Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Syndromic X-linked intellectual disability type 7 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Syndromic X-linked intellectual disability due to JARID1C mutation |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
Spondyloepiphyseal dysplasia tarda Kohn type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Microcephaly cardiomyopathy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Disorder of sex development with intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Cleft palate with short stature and vertebral anomaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
17q11.2 microduplication syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
19q13.11 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
1p21.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
DOORS syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
Chromosome Xp11.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
X-linked intellectual disability with seizure and psoriasis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
X-linked intellectual disability Cabezas type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
X-linked intellectual disability with plagiocephaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
X-linked intellectual disability with acromegaly and hyperactivity syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Wilson Turner syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Congenital hypoplasia of ulna and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Temtamy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Cystic fibrosis with gastritis and megaloblastic anaemia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Aniridia and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Arachnodactyly with abnormal ossification and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Arachnodactyly and intellectual disability with facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Ataxia with deafness and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Brachymorphism with onychodysplasia and dysphalangism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Cerebro-facio-thoracic dysplasia |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
CHIME syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
8 |
Cooper Jabs syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Cystic leucoencephalopathy without megalencephaly |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Cerebrooculonasal syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Filippi syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Fine Lubinsky syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Fountain syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Alopecia, contracture, dwarfism, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Hair defect with photosensitivity and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Hall Riggs syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Oliver syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Short stature with webbed neck and congenital heart disease syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
Deafness and intellectual disability Martin Probst type syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Hernandez Aguirre Negrete syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Ectodermal dysplasia with blindness syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
GAPO syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
8 |
Juberg Marsidi syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Radioulnar synostosis with developmental delay and hypotonia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Lipodystrophy, intellectual disability, deafness syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Lowry MacLean syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Intellectual disability, balding, patella luxation, acromicria syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Intellectual disability with cataract and kyphosis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Kapur Toriello syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Macrocephaly, short stature, paraplegia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
9 |
MEDNIK syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Oculo-palato-cerebral syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Oculocerebrofacial syndrome Kaufman type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Okamoto syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Orofaciodigital syndrome type 10 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Orofaciodigital syndrome type 5 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Orofaciodigital syndrome type 8 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Ossification anomaly with psychomotor developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
8 |
Severe X-linked intellectual disability Gustavson type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
7 |
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Congenital cataract with deafness and hypogonadism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Congenital cataract with hypertrichosis and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Intellectual disability, developmental delay, contracture syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Toriello Carey syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Skeletal dysplasia with intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
5 |
Duplication/inversion 15q11 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Faciocardiorenal syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Fallot complex with intellectual disability and growth delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Hypotrichosis and intellectual disability syndrome Lopes type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Microbrachycephaly, ptosis, cleft lip syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
N syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Non-progressive cerebellar ataxia with intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |
Phosphoribosylpyrophosphate synthetase superactivity |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Ramos Arroyo syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Interprets |
False |
Intellectual ability |
Inferred relationship |
Some |
5 |
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
4 |
Seizures and intellectual disability due to hydroxylysinuria syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
2 |
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
6 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Some |
3 |