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:
Ontology: Human Disease   (DOID:0080130)
OTHER mitochondrial DNA depletion syndrome 12a PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A4 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None