ZFIN Human Disease: mitochondrial DNA depletion syndrome 12a

OBO ID: DOID:0080130

Term Name:	mitochondrial DNA depletion syndrome 12a		Search Ontology:
Synonyms:
Definition:	A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. (2)
References:	NCI:C129977 OMIM:617184
Ontology:	Human Disease ( DOID:0080130 )

Relationships

is a type of:	autosomal dominant disease mitochondrial DNA depletion syndrome autosomal dominant disease mitochondrial DNA depletion syndrome Show first 5 Terms

OTHER mitochondrial DNA depletion syndrome 12a PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC25A4	slc25a4	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD	617184

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None