|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the musculature||-|
|Autosomal recessive inheritance||-|
|Pulmonary arterial hypertension||-|
|Reduced subcutaneous adipose tissue||-|
|Right ventricular hypertrophy||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.