Orphanet: X linked intellectual disability, Van Esch type

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Disease definition

A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge.

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X-linked intellectual disability, Van Esch type

ORPHA:163976

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2009) Italiano (2009) Português (2009)

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