OBO ID: DOID:0112331
Term Name: pontocerebellar hypoplasia type 1F Search Ontology:
Synonyms:
  • PCH1F
Definition: A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC1 on chromosome 10q24.1. https://pubmed.ncbi.nlm.nih.gov/33463720/
References:
Ontology: Human Disease   (DOID:0112331)
OTHER pontocerebellar hypoplasia type 1F PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EXOSC1 ?Pontocerebellar hypoplasia, type 1F 619304
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None