Any ciliopathy caused by variants in the MKS1 gene.
Comprehensive, easy-to-understand information about this condition
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Alstrom syndrome
MONDO:0008763
Marden-Walker syndrome
MONDO:0009564
Meckel syndrome, type 1
MONDO:0009571
nephronophthisis 1
MONDO:0009728
Bardet-Biedl syndrome 13
MONDO:0014441
Joubert syndrome 28
MONDO:0014928