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White matter disorders and cerebral calcification - narrow panel v0.11 | BCAP31 |
Ellen McDonagh gene: BCAP31 was added gene: BCAP31 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475 |