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| Retinal disorders v8.86 | FSD1L |
Siying Lin gene: FSD1L was added gene: FSD1L was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FSD1L were set to 41720099 Phenotypes for gene: FSD1L were set to Retinitis pigmentosa; retinal dystrophy Penetrance for gene: FSD1L were set to unknown Mode of pathogenicity for gene: FSD1L was set to Other Review for gene: FSD1L was set to GREEN Added comment: Lin, Cancellieri, Cao et al (PMID 41720099) describe 6 affected individuals from 4 families with retinitis pigmentosa. 2 affected siblings had both retinitis pigmentosa and a mild neurodevelopmental phenotype; the remaining four individuals had apparent isolated retinal dystrophy, including one individual who underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement. This suggests that FSD1L-associated disease may therefore span a broad phenotypic spectrum, ranging from severe neurodevelopmental syndromes to, at its mildest, non-syndromic retinal dystrophy. Sources: Literature |
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