mitochondrial DNA depletion syndrome 8b (DOID:0070331)
Alliance: disease page
Synonyms: mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
Alt IDs: OMIM:612075, MESH:C536350
Definition: A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.