ZFIN Human Disease: pontocerebellar hypoplasia type 1D

OBO ID: DOID:0112323

Term Name:	pontocerebellar hypoplasia type 1D		Search Ontology:
Synonyms:	PCH1D
Definition:	A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. (2)
References:	OMIM:618065
Ontology:	Human Disease ( DOID:0112323 )

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 1D PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EXOSC9	exosc9	Pontocerebellar hypoplasia, type 1D	618065

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None