OBO ID: DOID:0080128
Term Name: mitochondrial DNA depletion syndrome 9 Search Ontology:
Synonyms:
  • fatal infantile lactic acidosis
Definition: A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. (5)
References:
Ontology: Human Disease   (DOID:0080128)
OTHER mitochondrial DNA depletion syndrome 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SUCLG1 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 245400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None