Search Ontology:
Human Disease

pontocerebellar hypoplasia type 1E

Term ID
DOID:0112330
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 weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (2)
References
Ontology
Human Disease   ( DOID:0112330 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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