OBO ID: DOID:0112334
Term Name: pontocerebellar hypoplasia type 1C Search Ontology:
Synonyms:
  • PCH1C
Definition: A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC8 on chromosome 13q13.3. https://pubmed.ncbi.nlm.nih.gov/24989451/
References:
Ontology: Human Disease   (DOID:0112334)
OTHER pontocerebellar hypoplasia type 1C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EXOSC8 Pontocerebellar hypoplasia, type 1C 616081
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None