- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2406)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Abnormality of the voice (HP:0001608). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2406)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Anarthria (HP:0002425): A defect in the motor ability that enables speech. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Tetraplegia (HP:0002445): Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
- Excessive salivation (HP:0003781): Excessive production of saliva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2406)
- 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:2406)
- Cerebral palsy (HP:0100021): Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2406)
These phenotypes are associated with the disease Locked-in syndrome (ORPHA:2406).