Term Name:	mitochondrial DNA depletion syndrome 12a
Synonyms:
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.
Ontology:	Human Disease [DOID:0080130]   ( DOID:0080130 )