Disease association ontology term - MONDO:0016396 - pontocerebellar hypoplasia type 1
Term summary
- ID
- MONDO:0016396
- Name
- pontocerebellar hypoplasia type 1
- Ontology or CV name
- Disease association
- 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.
