Term Name: | mitochondrial DNA depletion syndrome 4b |
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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. |
Ontology: | Human Disease [DOID:0080123] ( DOID:0080123 ) |