Xp22.3 microdeletion syndrome

Alternate names

Xp22.3 microdeletion syndrome; Del(X)(p23)

Definition 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.

Xp22.3 microdeletion syndrome is a rare disease.

Frequently asked questions

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