X-linked intellectual disability-short stature-overweight syndrome

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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 consitent pattern has been noted.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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