Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Hyperekplexia epilepsy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
14q32 deletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
X-linked complicated corpus callosum dysgenesis |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
déficience intellectuelle liée à l'X type Brooks |
Interprets |
False |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked intellectual disability hypotonic face syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tall stature, intellectual disability, renal anomalies syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
RERE-related neurodevelopmental syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Combined oxidative phosphorylation defect type 23 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gabriele-de Vries syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
GNB5-related intellectual disability, cardiac arrhythmia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Growth delay, intellectual disability, hepatopathy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Non-specific syndromic intellectual disability |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Witteveen Kolk syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
VPS11-related autosomal recessive hypomyelinating leucodystrophy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Seizures, scoliosis, macrocephaly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Basel Vanagaite Smirin Yosef syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
False |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Fryns Smeets Thiry syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive cerebello-cerebral atrophy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
SATB2-associated syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant deafness with onychodystrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cross syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
QRICH1-related intellectual disability, chondrodysplasia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Keppen Lubinsky syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pierpont syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
SYNGAP1-related developmental and epileptic encephalopathy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Prune exopolyphosphatase 1-related neurological syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
3-methylglutaconic aciduria type 9 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
9q33.3q34.11 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
16p13.2 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
17q24.2 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
9q21.13 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
11q22.2q22.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
19p13.3 microduplication syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
20q11.2 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Megaconial congenital muscular dystrophy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |