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.
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0016113
bulbospinal muscular atrophy
is_a
MONDO:0019502
autosomal recessive non-syndromic intellectual disability
is_a
MONDO:0020135
pontocerebellar hypoplasia
is_a
MRT32
exact
Norman disease
exact
PCH1
exact
mental retardation, autosomal recessive 32
related
SPCC757.08 SPBC17D1.03c SPAC22A12.12c