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14-Aug-2019 13:30

If you can’t find a specialist in your local area, try contacting national or international specialists.They may be able to refer you to someone they know through conferences or research efforts.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.This table lists symptoms that people with this disease may have.For most diseases, symptoms will vary from person to person.Inclusion on this list is not an endorsement by GARD.

You may want to review these resources with a medical professional.These are of two types: abnormalities due to aneuploidy and aberrations either in autosomes or in sex chromosomes.