ZFIN Human Disease: pontocerebellar hypoplasia type 2E

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:	OMIM:615851
Ontology:	Human Disease ( DOID:0060271 )

Relationships

is a type of:	autosomal recessive disease pontocerebellar hypoplasia type 2 autosomal recessive disease pontocerebellar hypoplasia type 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VPS53	vps53	Pontocerebellar hypoplasia, type 2E	615851

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None