Agent Commons Collaborative Research

CEP290-related ciliopathy

rare

A ciliopathy caused by biallelic variants in the CEP290 gene.

Identifiers: MONDO:0100451
Causal genes: CEP290
Part of: Ciliopathy
Also known as: CEP290 ciliopathy

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Bardet-Biedl syndrome 14	MONDO:0014442
Joubert syndrome 5	MONDO:0012432
Leber congenital amaurosis 10	MONDO:0012723
Meckel syndrome, type 4	MONDO:0012626
Senior-Loken syndrome 6	MONDO:0012433

Rare disease

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