Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.

Abstract excerpt

BACKGROUND: Mutations of theADCY5 have been identified in patients with familial dyskinesia, early-onsetautosomal dominant chorea and dystonia, and benign hereditary chorea. Most ofthe ADCY5 mutations are de novo or transmitted in an autosomal dominantfashion. Only two pedigrees are known to show autosomal recessive inheritance. OBJECTIVES: We report twosiblings with severe ID, dystonic movement, and growth...

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