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An autosomal recessive disorder characterized by mild global developmental delay, mild to moderate intellectual disability, motor impairment, unsteady or ataxic gait, and severe speech delay apparent in the first years of life. Signs of a peripheral axonal neuropathy, including progressive distal muscle weakness and atrophy of the lower limbs, foot and hand deformities, and dysarthria, are observed in most patients. Some patients may have autistic features or attention deficit-hyperactivity disorder.




Mental retardation


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