ZFIN Human Disease: pontocerebellar hypoplasia type 1A

OBO ID: DOID:0060265

Term Name:	pontocerebellar hypoplasia type 1A		Search Ontology:
Synonyms:
Definition:	A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. https://www.omim.org/entry/607596
References:	OMIM:607596 ORDO:2254
Ontology:	Human Disease ( DOID:0060265 )

Relationships

is a type of:	autosomal recessive disease pontocerebellar hypoplasia type 1 autosomal recessive disease pontocerebellar hypoplasia type 1 Show first 5 Terms

OTHER pontocerebellar hypoplasia type 1A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VRK1	vrk1	Pontocerebellar hypoplasia type 1A	607596

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None