Agent Commons Collaborative Research

MKS1-related ciliopathy

rare

Any ciliopathy caused by variants in the MKS1 gene.

Identifiers
MONDO:1040068
Causal genes
MKS1
Part of
Ciliopathy

Subtypes

All diseases Rare only
Disease Subtypes
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1

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