Human genes for mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 4b [DOID:0080123]
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.
Synonyms: mitochondrial DNA depletion syndrome 4b, DOID:0080123, mitochondrial neurogastrointestinal encephalopathy syndrome, mitochondrial neurogastrointestinal encephalopathy disease, mitochondrial neurogastrointestinal encephalopathy disorder ...