- Progressive visual loss (HP:0000529, a Human Phenotype Ontology term): A reduction of previously attained ability to see. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:1215)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): 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: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:1215)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Progressive external ophthalmoplegia (HP:0000590, a Human Phenotype Ontology term): Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Abnormality of visual evoked potentials (HP:0000649, a Human Phenotype Ontology term): An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Bilateral ptosis (HP:0001488, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Myopathy (HP:0003198, a Human Phenotype Ontology term): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Limb-girdle muscle weakness (HP:0003325, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:1215)
- Mitochondrial myopathy (HP:0003737, a Human Phenotype Ontology term): A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Absent brainstem auditory responses (HP:0004463, a Human Phenotype Ontology term): Lack of measurable response to stimulation of auditory evoked potentials. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Abnormal retinal nerve fiber layer morphology (HP:0020119, a Human Phenotype Ontology term): A structural abnormality of the retinal nerve fiber layer. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- EMG: impaired neuromuscular transmission (HP:0100285, a Human Phenotype Ontology term): An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1215)
- Sensory neuropathy (HP:0000763, a Human Phenotype Ontology term): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Constriction of peripheral visual field (HP:0001133, a Human Phenotype Ontology term): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:1215)
- Spastic paraplegia (HP:0001258, a Human Phenotype Ontology term): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Absent Achilles reflex (HP:0003438, a Human Phenotype Ontology term): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- EMG: chronic denervation signs (HP:0003444, a Human Phenotype Ontology term): Evidence of chronic denervation on electromyography. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Motor axonal neuropathy (HP:0007002, a Human Phenotype Ontology term): Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Temporal optic disc pallor (HP:0012511, a Human Phenotype Ontology term): A pale yellow discoloration of the temporal (lateral) portion of the optic disc. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1215)
- Diabetes mellitus (HP:0000819, a Human Phenotype Ontology term): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:1215)
- Cardiomyopathy (HP:0001638, a Human Phenotype Ontology term): 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: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:1215)
- Migraine (HP:0002076, a Human Phenotype Ontology term): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:1215)
These phenotypes are associated with the disease Autosomal dominant optic atrophy plus syndrome (ORPHA:1215, an Orphanet rare-disease identifier).