ZFIN Human Disease: pontocerebellar hypoplasia type 13

OBO ID: DOID:0112332

Term Name:	pontocerebellar hypoplasia type 13		Search Ontology:
Synonyms:	PCH13
Definition:	A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/31207318/
References:	OMIM:618606
Ontology:	Human Disease ( DOID:0112332 )

Relationships

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

OTHER pontocerebellar hypoplasia type 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VPS51	vps51	Pontocerebellar hypoplasia, type 13	618606

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None