| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Muscle eye brain disease with bilateral multicystic leukodystrophy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Hyperekplexia epilepsy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| 21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| 14q32 deletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Mowat-Wilson syndrome due to monosomy 2q22 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| X-linked complicated corpus callosum dysgenesis |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
9 |
| X-linked intellectual disability Brooks type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked intellectual disability hypotonic face syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Angelman syndrome due to maternal monosomy 15q11q13 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Tall stature, intellectual disability, renal anomalies syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Combined oxidative phosphorylation defect type 23 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Infantile inflammatory bowel disease with neurological involvement |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Gabriele-de Vries syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Growth delay, intellectual disability, hepatopathy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Non-specific syndromic intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Witteveen Kolk syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Microcephalic cortical malformations, short stature due to rotatin deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, epilepsy, extrapyramidal syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Seizures, scoliosis, macrocephaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Short stature, brachydactyly, obesity, global developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Basel Vanagaite Smirin Yosef syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Metopic ridging, ptosis, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe oculo-renal-cerebellar syndrome |
Interprets |
False |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
10 |
| Fryns Smeets Thiry syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive cerebello-cerebral atrophy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Special AT-rich sequence-binding protein 2-associated syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Cross syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
9 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
10 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Keppen Lubinsky syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Pierpont syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Prune exopolyphosphatase 1-related neurological syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| 3-methylglutaconic aciduria type 9 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| 9q33.3q34.11 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| 16p13.2 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Xq25 microduplication syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| 17q24.2 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| 9q21.13 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| 11q22.2q22.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| 19p13.3 microduplication syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| 20q11.2 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| 8q24.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Megaconial congenital muscular dystrophy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Contactin associated protein 2-related developmental and epileptic encephalopathy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |