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| Leukodystrophy - paediatric v0.29 | OCRL | Bryony Thompson reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: 31922591, 19168822, 11315202; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.0 | OCRL |
Bryony Thompson gene: OCRL was added gene: OCRL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 |
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