intellectual disability, X-linked 1
An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0019181
non-syndromic X-linked intellectual disability
is_a
IQSEC2
related
IQSEC2-related disorder
exact
IQSEC2-related epilepsy
related
IQSEC2-related intellectual disability
related
IQSEC2-related syndromic intellectual disability
exact
MRX
exact
MRX1
exact
MRX78
exact
X-linked intellectual disability 1
related
X-linked intellectual disability 1/78
related
X-linked intellectual disability 78
related
intellectual developmental disorder, X-linked 1, X-linked dominant
exact
intellectual disability, X-linked 1
exact
mental retardation, X-linked 1
exact
mental retardation, X-linked 18
exact
mental retardation, X-linked 78
exact
mental retardation, X-linked type 1
exact