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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	MIM:619780
Synonyms	mitochondrial DNA depletion syndrome 20 (MNGIE type) [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease