OFD1-related ciliopathy
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.
MONDO:0005308
ciliopathy
is_a
OFD1-related ciliopathy
exact