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.

[1]

Synonyms

mitochondrial DNA depletion syndrome 20 (MNGIE type)

Cross References

MIM:619780

Parent Terms

Child Terms

None

Sources of Associations

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mitochondrial DNA depletion syndrome 20

mitochondrial DNA depletion syndrome 20

Associated Genes

Associated Alleles

Associated Models