Xp22.3 microdeletion syndrome

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Synonyms: Del(X)(p23)

Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion) but is mainly characterized by X linked ichthyosis mild-moderate intellectual deficit Kallmann syndrome short stature chondrodysplasia punctata and ocular albinism. Epilepsy attention deficit-hyperactivity disorder autism and difficulties with social communication can be associated.

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 June 2024

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Xp22.3 microdeletion syndrome?

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