| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Deletion of part of chromosome 20 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of long arm of chromosome 20 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of chromosome 21 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 22 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of long arm of chromosome 3 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of part of short arm of chromosome 17 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of long arm of chromosome 19 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of part of short arm of chromosome 20 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of long arm of chromosome 6 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of part of chromosome 1 (disorder) |
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 |
2 |
| Deletion of part of long arm of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
2 |
| 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 |
2 |
| Deletion of part of long arm of chromosome 17 (disorder) |
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 |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumors. Most deletions are de novo. |
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 |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the centre of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 2q33.1 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
1 |
| 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion 22q11.2 (morphologic abnormality) |
Is a |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
|
| 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 |
2 |
| 5q31.3 microdeletion syndrome (disorder) |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
1 |
| Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
2 |
| 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 |
2 |
| 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 |
1 |
| 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 |
1 |
| Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
1 |
| 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. |
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 12, characterised by intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. |
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 |
2 |
| 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 |
1 |
| 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 |
1 |
| A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Monosomie 14q, distale |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Williams syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Williams syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 11p partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Chromosome 2q37 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| syndrome de délétion 14q32 |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 11p15 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 12q15 deletion syndrome (disorder) |
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 |
1 |
| 20p12.2 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 5q22.2 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 7p12-p14 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 7p21.1 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 9p24.3 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 9q34 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 7p partial monosomy (disorder) |
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 |
2 |
| 12q24.31-q24.32 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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