X-linked intellectual disability, Van Esch type

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X-linked intellectual disability, Van Esch type

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.

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 March 2024

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X-linked intellectual disability, Van Esch type?

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