mitochondrial DNA depletion syndrome 8a

Term ID

DOID:0080127

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. (5)

References

• GARD:13200
• MESH:C536350
• OMIM:612075

Ontology

Human Disease   ( DOID:0080127 )