- Progressive external ophthalmoplegia (HP:0000590): Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:329336)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329336)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329336)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Bilateral ptosis (HP:0001488). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Areflexia of lower limbs (HP:0002522): Inability to elicit tendon reflexes in the lower limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Fatigable weakness of respiratory muscles (HP:0030196): A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Weakness of facial musculature (HP:0030319): Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329336)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Gait imbalance (HP:0002141). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Psychomotor deterioration (HP:0002361): Loss of previously present mental and motor abilities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Limb dysmetria (HP:0002406): A type of dysmetria involving the limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Deficit in phonologic short-term memory (HP:0002549): Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Abnormal spinocerebellar tract morphology (HP:0003133): An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Neck flexor weakness (HP:0003722): Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Abnormal atrioventricular conduction (HP:0005150): An impairment of the electrical continuity between the atria and ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329336)
These phenotypes are associated with the disease Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336).