syndromic X-linked intellectual disability 94 (DOID:0060823)
Alliance: disease page
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
Alt IDs: OMIM:300699, ICD10CM:F72, ORDO:364028
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.