Term Name:	mitochondrial DNA depletion syndrome 4b
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 (POLG) on chromosome 15q26.
Ontology:	Human Disease [DOID:0080123]   ( DOID:0080123 )