|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of immune system physiology||90%|
|Decreased nerve conduction velocity||90%|
|Sensorineural hearing impairment||90%|
|Death in infancy||-|
|Progressive muscle weakness||-|
|Recurrent upper respiratory tract infections||-|
|Spinal cord posterior columns myelin loss||-|
|X-linked recessive inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.