mitochondrial DNA depletion syndrome 12a (DOID:0080130)
Alliance: disease page
Alt IDs: OMIM:617184, NCI:C129977
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.