X-linked intellectual disability-short stature-overweight syndrome

Orpha code: 457240OMIM code: 300957

Definicja

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 consitent pattern has been noted.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
457240
Kod OMIM
300957
Kod ICD10
-
Kod ICD11
-

No additional description.

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