mitochondrial DNA depletion syndrome 8a (DOID:0080127)
Alliance: disease page
Synonyms: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Alt IDs: OMIM:612075, MESH:C536350
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.