Human genes for mitochondrial DNA depletion syndrome 8b
Mitochondrial DNA depletion syndrome 8b [DOID:0070331]
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.
Synonyms: mitochondrial DNA depletion syndrome 8b, DOID:0070331, mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related, mitochondrial neurogastrointestinal encephalopathy syndrome RRM2Brelated, RRM2B-related mitochondrial neurogastrointestinal encephalopathy syndrome ...