Search Ontology:
Human Disease

pontocerebellar hypoplasia type 2E

Term ID
DOID:0060271
Synonyms
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models