OBO ID: DOID:0112322
Term Name: pontocerebellar hypoplasia type 1 Search Ontology:
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. (2)
References:
Ontology: Human Disease   (DOID:0112322)
OTHER pontocerebellar hypoplasia type 1 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None