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White matter disorders and cerebral calcification - narrow panel v0.11 | ACP5 |
Ellen McDonagh gene: ACP5 was added gene: ACP5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217752; 21217755; 26951490 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia; Spondyloenchondrodysplasia with immune dysregulation |