X-linked intellectual disability-hypotonia-movement disorder syndrome

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X-linked intellectual disability-hypotonia-movement disorder syndrome

A rare genetic syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features including hypotonia dyskinesia spasticity wide-based gait microcephaly epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity skin pigmentary abnormalities and visual impairment have also been reported.

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 December 2023

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X-linked intellectual disability-hypotonia-movement disorder syndrome?

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