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Syndromic Retinopathy v0.0 | OFD1 |
Bryony Thompson gene: OFD1 was added gene: OFD1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209; Joubert syndrome 10, 300804 |