722380003: Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Genetic disease\Genetic intellectual disability\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Developmental hereditary disorder\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5402900019	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402901015	This syndrome is characterised by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331761013	Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331762018	Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331763011	Martsolf syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5966201000241116	syndrome de Martsolf	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5966211000241119	syndrome de cataracte congénitale, déficience intellectuelle et hypogonadisme hypogonadotrope	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602111000274110	Martsolf-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411531001000115	Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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