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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
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005792 | Short humerus |
| HP:0012087 | Abnormal mitochondrial shape |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| HP:0011611 | Interrupted aortic arch |
| HP:0004742 | Abnormal renal collecting system morphology |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0012120 | Methylmalonic aciduria |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0010442 | Polydactyly |
