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.

Also known as: MRT32, Norman disease, PCH1, mental retardation, autosomal recessive 32

11 clinical trials for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia type 1 itself.