Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intellectual ability - finding |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
1 |
Intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Sanjad Sakati syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Angelman syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Borderline intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Lowe syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Rett's disorder |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Moderate intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Mild intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Seckel syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Cutis laxa-corneal clouding-oligophrenia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
Borjeson-Forssman-Lehmann syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Profound intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Hyperphosphatasaemia with intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Bardet-Biedl syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Tetrasomy 12p syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Coffin-Siris syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Fragile X syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Kohlschutter's syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Hennekam syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Laurence-Moon syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Gillespie syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
X-linked intellectual disability with marfanoid habitus |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Severe intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Savant syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
MASA syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
1 |
Blepharophimosis-intellectual disability syndrome, SBBYS type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Myhre syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Renpenning syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Allan-Herndon-Dudley syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Pitt-Hopkins syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Christianson syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
X-linked intellectual disability-psychosis-macroorchidism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Partington syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
X-linked intellectual disability Snyder type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Deafness-dystonia-optic neuronopathy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Lethal ataxia-deafness-optic atrophy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
CASK related intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Neuronal ceroid lipofuscinosis 8 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Mowat-Wilson syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Autosomal recessive chorioretinopathy and microcephaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Microcephalic primordial dwarfism Alazami type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Microcephalic primordial dwarfism Dauber type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
X-linked cerebral, cerebellar, coloboma syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
3q27.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Microcephaly, thin corpus callosum, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Optic atrophy, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Intellectual disability, seizures, macrocephaly, obesity syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
2p13.2 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Developmental delay with autism spectrum disorder and gait instability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
5p13 microduplication syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
11p15.4 microduplication syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Kagami Ogata syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Alopecia, progressive neurological defect, endocrinopathy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Intellectual disability, short stature, hypertelorism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Hepatic fibrosis, renal cyst, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Pseudoleprechaunism syndrome Patterson type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Grubben, De Cock, Borghgraef syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Facial dysmorphism, cleft palate, loose skin syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Craniofaciofrontodigital syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Cerebrofacioarticular syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Wiedemann Steiner syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Intellectual disability due to nutritional deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Craniodigital syndrome and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Hypotonia, speech impairment, severe cognitive delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Intellectual disability, alacrima, achalasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Intellectual disability, polydactyly, uncombable hair syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Intellectual disability, spasticity, ectrodactyly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Intellectual disability, brachydactyly, Pierre Robin syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Intellectual disability Wolff type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Macrocephaly and developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Malan overgrowth syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Corpus callosum agenesis, abnormal genitalia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Oro-facial digital syndrome type 14 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
8 |
Pachygyria, intellectual disability, epilepsy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
Intellectual disability Birk-Barel type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Cryptorchidism, arachnodactyly, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |