Deafness, Dystonia, And Cerebral Hypomyelination

About the Disease
Deafness, Dystonia, and Cerebral Hypomyelination, also known as severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, is related to adrenoleukodystrophy and peroxisome biogenesis disorder 1a, and has symptoms including abnormal pyramidal signs An important gene associated with Deafness, Dystonia, and Cerebral Hypomyelination is BCAP31 (B Cell Receptor Associated Protein 31), and among its related pathways/superpathways is Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include brain, liver and eye, and related phenotypes are failure to thrive and abnormal pyramidal sign

Common Targets
BCAP31

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