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mitochondrial DNA depletion syndrome 9
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080128
- MeSH
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P53597 | Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
| HP:0001276 | Hypertonia |
| HP:0001298 | Encephalopathy |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001371 | Flexion contracture |
| HP:0001397 | Hepatic steatosis |
| HP:0001508 | Failure to thrive |
