/pontocerebellar hypoplasia type 1

pontocerebellar hypoplasia type 1

Rare Disease

MONDO:0016396

Also Known As

MRT32Norman diseasePCH1mental retardation, autosomal recessive 32

Definition

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.