SLC2A1

Familial dyskinesia with facial myokymia (ADCY5 gene)

A hyperkinetic disorder Familial dyskinesia with facial myokymia (also known as ADCY5-related dyskinesia) is an autosomal dominant mixed hyperkinetic disorder characterized by paroxysmal choreiform, myoclonic, and/or dystonic movements of the limbs and neck with frequent facial involvement. Onset is typically from infancy to late adolescence. The severity is variable, sometimes resulting in difficulty walking and

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Hereditary red cell membrane disorders

Nonimmune anemias Hereditary red cell membrane disorders are accounted for by nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) are disorders of the red cell cytoskeleton, whereas hereditary stomatocytoses are consistent with disorders of

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