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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:0011968 | Feeding difficulties |
| HP:0008936 | Axial hypotonia |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0009141 | Depletion of mitochondrial DNA in muscle tissue |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0008935 | Generalized neonatal hypotonia |
| HP:0010864 | Intellectual disability, severe |
