Term Name:	pontocerebellar hypoplasia type 1
Synonyms:	Norman disease, PCH1, pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy
Definition:	A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.
Ontology:	Human Disease [DOID:0112322]   ( DOID:0112322 )