Human genes for syndromic X-linked intellectual disability 94
Syndromic X-linked intellectual disability 94 [DOID:0060823]
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.
Synonyms: syndromic X-linked intellectual disability 94, DOID:0060823, syndromic Xlinked intellectual disability 94, mental retardation, X-linked 94, MRX94 ...