| Metadata | |
|---|---|
| ID | DOID:0070451 |
| Name | mitochondrial DNA depletion syndrome 20 |
| Definition | A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. https://pubmed.ncbi.nlm.nih.gov/33855352/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619780 |
| Synonyms |
mitochondrial DNA depletion syndrome 20 (MNGIE type) [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |