|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the eye||-|
|Agenesis of corpus callosum||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Conductive hearing impairment||-|
|Downslanted palpebral fissures||-|
|Hypoplasia of the epiglottis||-|
|Situs inversus totalis||-|
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.
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.