Disease-gene associations mined from literature

Human genes for mitochondrial DNA depletion syndrome 14

Mitochondrial DNA depletion syndrome 14 [DOID:0080336]

A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.

Synonyms:  mitochondrial DNA depletion syndrome 14,  DOID:0080336