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Chromosome 5q12 deletion syndrome
MONDO:0014298PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
Also known as: chromosome 5q12 deletion syndrome, PDE4D haploinsufficiency syndrome
6 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC