mitochondrial DNA depletion syndrome 20

Term ID

DOID:0070451

Synonyms

• mitochondrial DNA depletion syndrome 20 (MNGIE type)

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/

References

• OMIM:619780

Ontology

Human Disease   ( DOID:0070451 )