syndromic X-linked intellectual disability 94
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.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRX94
exact
MRXS29
exact
MRXSW
related
intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive
exact
intellectual disability, X-linked 94
exact
intellectual disability, X-linked, syndromic, Wu type
related
mental retardation, X-linked 94
exact
mental retardation, X-linked, syndromic 29
related
mental retardation, X-linked, syndromic, Wu type
related
syndromic X-linked intellectual disability 29
exact
syndromic X-linked intellectual disability 94
exact
syndromic X-linked intellectual disability Wu type
exact
syndromic X-linked intellectual disability type 94
exact