/X-linked intellectual disability-short stature-overweight syndrome

X-linked intellectual disability-short stature-overweight syndrome

Rare Disease

MONDO:0010496

Also Known As

intellectual developmental disorder, X-linked 12, X-linked recessiveintellectual disability, X-linked type 12mental retardation, X-linked type 12MRX12intellectual disability, X-linked 12intellectual disability, X-linked 35mental retardation, X-linked 12mental retardation, X-linked 35

Definition

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.