Term Name: | syndromic X-linked intellectual disability 94 |
---|---|
Synonyms: | mental retardation, X-linked 94, MRX94, MRXS29, syndromic X-linked intellectual disability due to GRIA3 anomalies, syndromic X-linked mental retardation 29, syndromic X-linked mental retardation Wu type |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060823] ( DOID:0060823 ) |