Syndromic X-linked intellectual disability 94
Syndromic X-linked intellectual disability 94
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.
Also known as intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive, intellectual disability, X-linked 94, mental retardation, X-linked 94, MRX94, MRXS29, syndromic X-linked intellectual disability 29, syndromic X-linked intellectual disability 94, syndromic X-linked intellectual disability type 94, syndromic X-linked intellectual disability Wu type — per MONDO