| Metadata | |
|---|---|
| ID | DOID:0080127 |
| Name | mitochondrial DNA depletion syndrome 8a |
| 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. https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy, https://www.ncbi.nlm.nih.gov/pubmed/24741716, https://www.ncbi.nlm.nih.gov/pubmed/30439532 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy [EXACT] |
| Parent Relationships |