| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Temple Baraitser syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked spasticity, intellectual disability, epilepsy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| 5-amino-4-imidazole carboxamide ribosiduria |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Is a |
False |
Intellectual disability |
Inferred relationship |
Some |
|
| Bullous dystrophy macular type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability Buenos Aires type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Neurofaciodigitorenal syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked intellectual disability Brooks type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| CAMOS syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Caudal appendage deafness syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Weaver Williams syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Pfeiffer Palm Teller syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked intellectual disability Hedera type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked intellectual disability Nascimento type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Cortical blindness, intellectual disability, polydactyly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Osteopenia, intellectual disability, sparse hair syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Brachydactyly and preaxial hallux varus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Spastic paraplegia with precocious puberty syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Lambert syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Epilepsy telangiectasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Bonnemann Meinecke Reich syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Stimmler syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Pseudoprogeria syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Preaxial polydactyly, colobomata, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Microcephalus, digital anomaly, intellectual disability syndrome |
Is a |
False |
Intellectual disability |
Inferred relationship |
Some |
|
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Van den Bosch syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Thumb stiffness, brachydactyly, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Spastic paraplegia, glaucoma, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Megalocornea with intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| SCARF syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Grubben, De Cock, Borghgraef syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Facial dysmorphism, cleft palate, loose skin syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Craniofaciofrontodigital syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Cerebrofacioarticular syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Family history of intellectual disability |
Associated finding |
True |
Intellectual disability |
Inferred relationship |
Some |
1 |
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Wiedemann Steiner syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability screening |
Has focus |
True |
Intellectual disability |
Inferred relationship |
Some |
2 |
| Intellectual disability due to nutritional deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Craniodigital syndrome and intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Hypotonia, speech impairment, severe cognitive delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, alacrima, achalasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, polydactyly, uncombable hair syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, spasticity, ectrodactyly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, brachydactyly, Pierre Robin syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability Wolff type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked intellectual disability with ataxia and apraxia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Macrocephaly and developmental delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Malan overgrowth syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Corpus callosum agenesis, abnormal genitalia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Oro-facial digital syndrome type 14 |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Pachygyria, intellectual disability, epilepsy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability Birk-Barel type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Cryptorchidism, arachnodactyly, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Microcephalic primordial dwarfism Montreal type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Nijmegen breakage syndrome-like disorder |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Diencephalic mesencephalic junction dysplasia |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Purine rich element binding protein A syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Tall stature, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Microcephalic primordial dwarfism Alazami type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Autosomal recessive chorioretinopathy and microcephaly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Microcephalic primordial dwarfism Dauber type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| X-linked cerebral, cerebellar, coloboma syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| 5p13 microduplication syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Microcephaly, thin corpus callosum, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, seizures, macrocephaly, obesity syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Optic atrophy, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| 2p13.2 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Is a |
True |
Intellectual disability |
Inferred relationship |
Some |
|