ZFIN Human Disease: pontocerebellar hypoplasia type 1E

OBO ID: DOID:0112330

Term Name:	pontocerebellar hypoplasia type 1E		Search Ontology:
Synonyms:	PCH1E
Definition:	A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (2)
References:	OMIM:619303
Ontology:	Human Disease ( DOID:0112330 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC25A46	slc25a46	Pontocerebellar hypoplasia, type 1E	619303

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None