X-linked intellectual disability-retinitis pigmentosa syndrome
MONDO:0010364X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Also known as: Aldred syndrome, chromosome xp11.3 deletion syndrome, X-linked recessive, retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion, retinitis pigmentosa and intellectual disability due to del(X)(p11.3), retinitis pigmentosa and intellectual disability due to monosomy Xp11.3, X-linked mental handicap-retinitis pigmentosa syndrome, chromosome Xp11.3 deletion syndrome, intellectual disability, X-linked, with retinitis pigmentosa
5 clinical trials for this condition and its sub-types.
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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: PHASE1 • Sponsor: University of Oslo • Aim: Symptom relief
Last updated Jul 24, 2026 00:00 UTC