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MKS1-related ciliopathy

MONDO:1040068

Any ciliopathy caused by variants in the MKS1 gene.

Also known as: MKS1-related ciliopathy

1 clinical trial for this condition and its sub-types, 0 tagged with MKS1-related ciliopathy itself.

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↑ Ciliopathy (49)

Sub-types of MKS1-related ciliopathy

  • Meckel syndrome, type 1 1 trial
  • Bardet-Biedl syndrome 13 0 trials
  • Joubert syndrome 28 0 trials
Including sub-types (1) Tagged with MKS1-related ciliopathy (0)
Trials to join now! 1
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  • New registry aims to unlock secrets of rare Kidney-Liver diseases

    Knowledge-focused Recruiting now

    This study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

    Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

    Last updated Jun 27, 2026 14:00 UTC

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