Xp22.3 microdeletion syndrome

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.

Also known as: Del(X)(p23)

5 clinical trials for this condition and its sub-types, 0 tagged with Xp22.3 microdeletion syndrome itself.