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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P53597 | Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial | |
| Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000047 | Hypospadias |
| HP:0000202 | Orofacial cleft |
| HP:0000252 | Microcephaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000508 | Ptosis |
| HP:0000718 | Aggressive behavior |
| HP:0000736 | Short attention span |
| HP:0000975 | Hyperhidrosis |
| HP:0001249 | Intellectual disability |
