mitochondrial DNA depletion syndrome 20 (DOID:0070451)
Alliance: disease page
Synonyms: mitochondrial DNA depletion syndrome 20 (MNGIE type)
Alt IDs: OMIM:619780
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.