1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080130 | mitochondrial DNA depletion syndrome 12a | A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070329 | mitochondrial DNA depletion syndrome | A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. |
