Human genes for mitochondrial DNA depletion syndrome 12a
Mitochondrial DNA depletion syndrome 12a [DOID:0080130]
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.
Synonyms: mitochondrial DNA depletion syndrome 12a, DOID:0080130