Xp22.3 microdeletion syndrome
MONDO:0015606Xp22.3 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)
6 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
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Chromosomal disorder
(12)
Gonosome anomaly
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Disease of genetic or genomic mechanism
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Chromosome X disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome X
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Partial monosomy of the short arm of chromosome X
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Syndrome caused by partial chromosomal deletion
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