| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Paternal 14q32.2 microdeletion (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Partial deletion of short arm of chromosome 5 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Partial deletion of short arm of chromosome 5 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 5p partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 5q31.3 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 5q31.3 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3. The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of long arm of chromosome 5 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 5q22.2 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Medial deletion of long arm of chromosome 5 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Proximal deletion of long arm of chromosome 5 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of autosome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 22q11 partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 22q11 partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of short arm of chromosome 16 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
6 |
| An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 7p12-p14 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 7p21.1 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Proximal deletion of short arm of chromosome 7 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of part of long arm of chromosome 3 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Distal deletion of long arm of chromosome 3 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Proximal deletion of long arm of chromosome 3 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of short arm of chromosome 6 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Proximal deletion of short arm of chromosome 6 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of long arm of chromosome 17 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia have also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Proximal deletion of long arm of chromosome 17 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of short arm of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of short arm of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of long arm of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 12q15 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 12q24.31-q24.32 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal deletion of long arm of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Proximal deletion of long arm of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Partial deletion of long arm of chromosome 15 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Partial deletion of long arm of chromosome 15 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 15q13.3 microdeletion |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 15q13.3 microdeletion |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 15q24 microdeletion |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 15q24 microdeletion |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Partial deletion of long arm of chromosome 16 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Partial deletion of long arm of chromosome 16 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Distal deletion of long arm of chromosome 16 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Proximal deletion of long arm of chromosome 16 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Chromosome 16p11.2 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Chromosome 16p11.2 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Chromosome 2q37 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of long arm of chromosome 2 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Distal deletion of long arm of chromosome 2 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Medial deletion of long arm of chromosome 2 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Proximal deletion of long arm of chromosome 2 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 2q33.1 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
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