- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Abnormality of facial musculature (HP:0000301): An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98897)
- Progressive external ophthalmoplegia (HP:0000590): Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98897)
- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98897)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98897)
- Progressive ptosis (HP:0007838): A progressive form of ptosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98897)
- Nasal dysarthria (HP:0008376). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98897)
- 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: Very frequent (HP:0040281). (ORPHA:98897)
- Tongue muscle weakness (HP:0000183): Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- 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:98897)
- Vocal cord paresis (HP:0001604): Decreased strength of the vocal folds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Myopathic facies (HP:0002058): A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Recurrent aspiration pneumonia (HP:0002100): Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Distal upper limb amyotrophy (HP:0007149): Muscular atrophy of distal arm muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Bowing of the vocal cords (HP:0008756): Bowing (abnormal curvature) of the vocal folds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Progressive distal muscle weakness (HP:0009063): Progressively reduced strength of the distal musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Impaired oropharyngeal swallow response (HP:0031162): Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Oral-pharyngeal dysphagia (HP:0200136). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Abnormal morphology of musculature of pharynx (HP:0430015): An abnormality of any of the muscles of the pharynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98897)
- Progressive sensorineural hearing impairment (HP:0000408): A progressive form of sensorineural hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- 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:98897)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Tibialis muscle weakness (HP:0008963): Muscle weakness affecting the tibialis anterior muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Progressive proximal muscle weakness (HP:0009073): Lack of strength of the proximal muscles that becomes progressively more severe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Fatigable weakness of bulbar muscles (HP:0030192): A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) 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: Occasional (HP:0040283). (ORPHA:98897)
- Abnormality of masseter muscle (HP:3000005): An abnormality of a masseter muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98897)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98897)
- Paraplegia (HP:0010550): Severe or complete weakness of both lower extremities with sparing of the upper extremities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98897)
- Abnormality of orbicularis oris muscle (HP:3000010): An abnormality of an orbicularis oris muscle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98897)
These phenotypes are associated with the disease Oculopharyngodistal myopathy (ORPHA:98897).