DeSanto-Shinawi syndrome due to WAC point mutation
MONDO:0014741Also known as: DESANTO-SHINAWI syndrome, DESSH, Desanto-Shinawi syndrome, facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, chromosome 10P12-p11 deletion syndrome, developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities, developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities
4 clinical trials for this condition and its sub-types.
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC