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| Leukodystrophy - adult onset v0.109 | ABCD1 | Kaitlyn Dianna Weldon reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301491; Phenotypes: adrenoleukodystrophy MONDO:0018544, X-linked cerebral adrenoleukodystrophy MONDO:0010247; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.0 | ABCD1 |
Bryony Thompson gene: ABCD1 was added gene: ABCD1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 |
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