| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Tall stature, intellectual disability, renal anomalies syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| RERE-related neurodevelopmental syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| TELO2-related intellectual disability, neurodevelopmental disorder |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| CLCN4-related X-linked intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| PMP22-RAI1 contiguous gene duplication syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Combined oxidative phosphorylation defect type 23 |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Infantile inflammatory bowel disease with neurological involvement |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Gabriele-de Vries syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Growth delay, intellectual disability, hepatopathy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Non-specific syndromic intellectual disability |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Witteveen Kolk syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Microcephalic cortical malformations, short stature due to RTTN deficiency |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Intellectual disability, epilepsy, extrapyramidal syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| VPS11-related autosomal recessive hypomyelinating leucodystrophy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Seizures, scoliosis, macrocephaly syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Short stature, brachydactyly, obesity, global developmental delay syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Basel Vanagaite Smirin Yosef syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Congenital cerebellar ataxia due to RNU12 mutation |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Metopic ridging, ptosis, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| DYRK1A-related intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Sanjad Sakati syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Severe oculo-renal-cerebellar syndrome |
Interprets |
False |
Adaptation behaviour |
Inferred relationship |
Some |
9 |
| Fryns Smeets Thiry syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
| Progressive cerebello-cerebral atrophy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| SATB2-associated syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
1 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
| Improvement in post-trauma response |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
| Cross syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| NKX6-2-related autosomal recessive hypomyelinating leucodystrophy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
9 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| QRICH1-related intellectual disability, chondrodysplasia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Keppen Lubinsky syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Pierpont syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| RARS-related autosomal recessive hypomyelinating leucodystrophy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| SYNGAP1-related developmental and epileptic encephalopathy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| PRUNE1-related neurological syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| 3-methylglutaconic aciduria type 9 |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| 9q33.3q34.11 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| 16p13.2 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Xq25 microduplication syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| 17q24.2 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| 9q21.13 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
| 11q22.2q22.3 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| 19p13.3 microduplication syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| 20q11.2 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| 8q24.3 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Megaconial congenital muscular dystrophy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| CNTNAP2-related developmental and epileptic encephalopathy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| PDE4D haploinsufficiency syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| FG syndrome type 1 |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Symptomatic form of fragile X syndrome in female carrier |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| PYCR2-related microcephaly, progressive leucoencephalopathy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| NDE1-related microhydranencephaly |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Short stature, developmental delay, congenital heart defect syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Coffin-Lowry syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Fatty acyl-CoA reductase 1 deficiency |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |