OFD1-related ciliopathy

MONDO:1040039

Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia.

Also known as: OFD1-related ciliopathy

1 clinical trial for this condition and its sub-types, 0 tagged with OFD1-related ciliopathy itself.

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↑ Ciliopathy (49)

Sub-types of OFD1-related ciliopathy

Orofaciodigital syndrome I 1 trial
Joubert syndrome 10 0 trials
Retinitis pigmentosa 23 0 trials

Including sub-types (1) Tagged with OFD1-related ciliopathy (0)

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