OBO ID: DOID:0112323
Term Name: pontocerebellar hypoplasia type 1D Search Ontology:
Synonyms:
  • PCH1D
Definition: A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC9 on chromosome 4q27. (2)
References:
Ontology: Human Disease   (DOID:0112323)
OTHER pontocerebellar hypoplasia type 1D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EXOSC9 Pontocerebellar hypoplasia, type 1D 618065
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None