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mitochondrial DNA depletion syndrome 12a
Summary
- Definition
- 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.
- Super Class
- autosomal dominant disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080130
- Mondo Disease Ontology
- NCI Thesaurus
- OMIM
