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Albinism or congenital nystagmus v0.2 | FRMD7 |
Ellen McDonagh gene: FRMD7 was added gene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: FRMD7 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: FRMD7 were set to 24688117; 17013395; 21303855; 17397053; 18431453; 17846367 Phenotypes for gene: FRMD7 were set to Nystagmus 1, Congenital, X-Linked; Infantile Nystagmus; Nystagmus, infantile periodic alternating, X-linked, 310700; Nystagmus 1, congenital, X-linked, 310700; (not relevant if inheritance through paternal line) |