OBO ID: DOID:0080336
Term Name: mitochondrial DNA depletion syndrome 14 Search Ontology:
Synonyms:
Definition: A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (4)
References:
Ontology: Human Disease   (DOID:0080336)
OTHER mitochondrial DNA depletion syndrome 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OPA1 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 616896
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None