- Functional abnormality of the bladder (HP:0000009): Dysfunction of the urinary bladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2571)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2571)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2571)
- 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: Frequent (HP:0040282). (ORPHA:2571)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2571)
- 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:2571)
- Hemiplegia/hemiparesis (HP:0004374): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2571)
- Decreased circulating IgG2 concentration (HP:0008348): A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2571)
- Abnormal nervous system physiology (HP:0012638): A functional anomaly of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2571)
- 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:2571)
- Abnormal pleura morphology (HP:0002103): An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2571)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2571)
These phenotypes are associated with the disease X-linked immunoneurologic disorder (ORPHA:2571).