Orphanet: X linked intellectual disability short stature overweight syndrome

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X-linked intellectual disability-short stature-overweight syndrome

Disease 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 consitent pattern has been noted.

ORPHA:457240

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Infancy, Childhood, Adolescent
ICD-10: Q87.8
ICD-11: LD90
OMIM: 300957
UMLS: C5681122
MeSH: -
GARD: -
MedDRA: -

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X-linked intellectual disability-short stature-overweight syndrome

ORPHA:457240

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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