Syndromic X-Linked Intellectual Disability 94
Disease ID: disease_node_19239
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:F72, MIM:300699, ORDO:364028 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRX94, MRXS29, mental retardation, X-linked 94, syndromic X-linked intellectual disability due to GRIA3 anomalies, syndromic X-linked mental retardation 29, syndromic X-linked mental retardation Wu type |
| Doid Label | syndromic X-linked intellectual disability 94 |
| Doid Description | A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. |
| Disease Node Id | disease_node_19239 |
| Doid Id | DOID_0060823 |
| Label | Syndromic X-Linked Intellectual Disability 94 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)