OBO ID: DOID:0112330
Term Name: pontocerebellar hypoplasia type 1E Search Ontology:
Synonyms:
  • PCH1E
Definition: A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within a weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A46 on chromosome 5q22.1. (2)
References:
Ontology: Human Disease   (DOID:0112330)
OTHER pontocerebellar hypoplasia type 1E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A46 Pontocerebellar hypoplasia, type 1E 619303
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None