OBO ID: DOID:0080335
Term Name: mitochondrial DNA depletion syndrome 12b Search Ontology:
Synonyms:
Definition: A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (4)
References:
Ontology: Human Disease   (DOID:0080335)
OTHER mitochondrial DNA depletion syndrome 12b PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A4 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None