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| White matter disorders and cerebral calcification - narrow panel v0.11 | EARS2 |
Ellen McDonagh gene: EARS2 was added gene: EARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 25655951 Phenotypes for gene: EARS2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL); Combined oxidative phosphorylation deficiency 12 |
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