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