Pontocerebellar hypoplasia type 1

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.

Also known as MRT32, Norman disease, PCH1 — per MONDO

Also identified as

• DOID 0112322 per MONDO
• MESH C548069 per MONDO
• Orphanet 2254 per MONDO
• SCTID 718610008 per MONDO
• UMLS C5442006 per MONDO