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

• OMIM:613662
• ORDO:298

Ontology

Human Disease   ( DOID:0080123 )