Term Name:	mitochondrial DNA depletion syndrome 8a
Synonyms:	RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Definition:	A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.
Ontology:	Human Disease [DOID:0080127]   ( DOID:0080127 )