Human genes for mitochondrial DNA depletion syndrome 8a
Mitochondrial DNA depletion syndrome 8a [DOID:0080127]
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.
Synonyms: mitochondrial DNA depletion syndrome 8a, DOID:0080127, RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy, encephalomyopathic form with renal tubulopathy RRM2B-related mitochondrial DNA depletion syndrome, RRM2Brelated mitochondrial DNA depletion syndrome encephalomyopathic form with renal tubulopathy ...