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Human Disease

mitochondrial DNA depletion syndrome 4b

Term ID
DOID:0080123
Synonyms
Definition
A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (4)
References
Ontology
Human Disease   ( DOID:0080123 )
Relationships
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Genes Involved
Zebrafish Models