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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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Pontocerebellar hypoplasia type 1A 0 trials
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Pontocerebellar hypoplasia type 1B 0 trials
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Pontocerebellar hypoplasia, type 1C 0 trials