|OBO ID: DOID:0112330|
|Term Name:||pontocerebellar hypoplasia type 1E||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0112330)|
|is a type of:||
OTHER pontocerebellar hypoplasia type 1E PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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