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| White matter disorders and cerebral calcification - narrow panel v0.11 | XPR1 |
Ellen McDonagh gene: XPR1 was added gene: XPR1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: XPR1 were set to 27230854 - report of a novel variant in a 41-year old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction; 25938945 Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6, 616413; Basal ganglia calcification (Fahr syndrome) |
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