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Lysosomal Storage Disorder v1.11 | WDR45 |
Bryony Thompson gene: WDR45 was added gene: WDR45 was added to Lysosomal Storage Disorder. Sources: Expert Review Green Mode of inheritance for gene: WDR45 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: WDR45 were set to 38465922; 29884839 Phenotypes for gene: WDR45 were set to Disorders of autophagy; X-linked complex neurodevelopmental disorder MONDO:0100148 |