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Up to: Developmental anomaly of metabolic origin · Pontocerebellar hypoplasia · Bulbospinal muscular atrophy · Autosomal recessive non-syndromic intellectual disability

Pontocerebellar hypoplasia type 1

Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.

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