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Pontocerebellar hypoplasia type 1
rarePontocerebellar 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.
- Identifiers
- MONDO:0016396 Orphanet:2254
- Part of
- Autosomal recessive non-syndromic intellectual disabilityBulbospinal muscular atrophyDevelopmental anomaly of metabolic originPontocerebellar hypoplasia
- Also known as
- mental retardation, autosomal recessive 32 · MRT32 · Norman disease · PCH1
Subtypes
Rare disease
Projects
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