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 study aims to unlock mysteries of sex chromosome disorders in children
Knowledge-focused ENROLLING_BY_INVITATIONThis study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists probe genetic secrets of lost fetuses to unravel sex chromosome mysteries
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC