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mitochondrial DNA depletion syndrome 20
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0070451
- Mondo Disease Ontology
- OMIM
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008049 | Abnormality of the extraocular muscles |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009830 | Peripheral neuropathy |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0012850 | Small intestinal dysmotility |
