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mitochondrial DNA depletion syndrome 14
Summary
- Definition
- A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.
- Super Class
- mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080336
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60313 | Dynamin-like GTPase OPA1, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0000648 | Optic atrophy |
| HP:0011410 | Caesarian section |
| HP:0002490 | Increased CSF lactate |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0008936 | Axial hypotonia |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0012736 | Profound global developmental delay |
| HP:0001612 | Weak cry |
