Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
MONDO:0017811A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.
Also known as: 5q31.3 microdeletion syndrome, Del(5)(q31.3), monosomy 5q31.3
6 clinical trials for this condition and its sub-types.
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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