mitochondrial DNA depletion syndrome 4b (DOID:0080123)
Alliance: disease page
Synonyms: mitochondrial neurogastrointestinal encephalopathy syndrome
Alt IDs: OMIM:613662, ORDO:298
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.