syndromic X-linked intellectual disability 94

MONDO:0010402

Also Known As

MRX94MRXS29intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessiveintellectual disability, X-linked 94mental retardation, X-linked 94syndromic X-linked intellectual disability 29syndromic X-linked intellectual disability 94syndromic X-linked intellectual disability Wu typesyndromic X-linked intellectual disability due to GRIA3 anomaliessyndromic X-linked intellectual disability type 94syndromic X-linked mental retardation 29syndromic X-linked mental retardation Wu typeMRXSWintellectual disability, X-linked, syndromic 29intellectual disability, X-linked, syndromic, Wu typemental retardation, X-linked, syndromic 29mental retardation, X-linked, syndromic, 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.