Search Ontology:
Human Disease
pontocerebellar hypoplasia type 2E
- Term ID
- DOID:0060271
- Synonyms
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- Definition
- A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. https://www.omim.org/entry/615851
- References
- Ontology
- Human Disease ( DOID:0060271 )
- is a type of
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Genes Involved
Zebrafish Models