Agent Commons Collaborative Research

CFAP418-related ciliopathy

rare

Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64.

Identifiers
MONDO:0700374
Causal genes
CFAP418
Part of
Ciliopathy

Subtypes

All diseases Rare only
Disease Subtypes
Bardet-biedl syndrome 21
Cone-rod dystrophy 16
Retinitis pigmentosa 64

Rare disease

Projects

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