X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRX12
related
intellectual developmental disorder, X-linked 12, X-linked recessive
exact
intellectual disability, X-linked 12
related
intellectual disability, X-linked type 12
exact
mental retardation, X-linked 12
related
mental retardation, X-linked 35
related
mental retardation, X-linked type 12
exact
SPAC1D4.14