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)
5 clinical trials for this condition and its sub-types, 0 tagged with Xp22.3 microdeletion syndrome itself.
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New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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Social coaching may ease anxiety and autism traits in rare chromosome conditions
Symptom relief Recruiting nowThis trial tests whether a 10-session group program called Social Management Training can improve mental health, executive function, and social skills in adults aged 16 to 69 who have sex chromosome aneuploidies (extra or missing sex chromosomes). Participants complete questionna…
Phase 1 • Sponsor: University of Oslo • Aim: Symptom relief
Last updated Jul 24, 2026 00:00 UTC