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Meckel syndrome, type 10

MONDO:0013609

Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.

Also known as: B9D2 Meckel syndrome, Meckel syndrome caused by mutation in B9D2, Meckel syndrome, type 10, meckel syndrome 10, JBTS34, Joubert syndrome 34, MKS10

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Completed 1
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  • Scientists hunt for drug targets in rare kidney disorder

    Knowledge-focused Recruiting now

    This study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…

    Phase: NA • Sponsor: Imagine Institute • Aim: Knowledge-focused

    Last updated Jun 26, 2026 14:13 UTC

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