OBO ID: DOID:0060271
Term Name: pontocerebellar hypoplasia type 2E Search Ontology:
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)
OTHER pontocerebellar hypoplasia type 2E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VPS53 Pontocerebellar hypoplasia, type 2E 615851
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None