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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:0000044 | Hypogonadotropic hypogonadism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000508 | Ptosis |
| HP:0000544 | External ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000726 | Dementia |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001155 | Abnormality of the hand |
| HP:0001249 | Intellectual disability |
| HP:0001394 | Cirrhosis |
