mitochondrial DNA depletion syndrome 16B

A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutati

A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.

Signs and symptoms

• Visual loss
• Peripheral axonal neuropathy
• Premature ovarian insufficiency
• Gait disturbance
• Cerebral cortical atrophy
• Cerebellar atrophy
• Amenorrhea
• Ataxia
• Open angle glaucoma
• Depression

Also known as: mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)