|OBO ID: DOID:0060267|
|Term Name:||pontocerebellar hypoplasia type 2A||Search Ontology:|
|Definition:||A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/277470|
|Ontology:||Human Disease (DOID:0060267)|
|is a type of:||
OTHER pontocerebellar hypoplasia type 2A PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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