- Progressive external ophthalmoplegia (HP:0000590): Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Bilateral ptosis (HP:0001488). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Limb-girdle muscle weakness (HP:0003325): Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Sensory axonal neuropathy (HP:0003390): An axonal neuropathy of peripheral sensory nerves. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Limb-girdle muscle atrophy (HP:0003797): Muscular atrophy affecting the muscles of the limb girdle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Adult onset sensorineural hearing impairment (HP:0008615): The presence of sensorineural deafness with late onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329314)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Viral infection-induced rhabdomyolysis (HP:0003558): Rhabdomyolysis induced by a viral infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Pelvic girdle muscle weakness (HP:0003749): Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329314)
These phenotypes are associated with the disease Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314).