Metadata | |
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ID | DOID:0070331 |
Name | mitochondrial DNA depletion syndrome 8b |
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. https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/30373120 |
Xrefs | |
Synonyms |
mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related [EXACT] |
Parent Relationships |