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| Renal ciliopathies v0.1 | OFD1 |
Eleanor Williams gene: OFD1 was added gene: OFD1 was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OFD1 were set to 19800048; 22353940 Phenotypes for gene: OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I |
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