Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH.

Discover how the Genetic and Rare Diseases Information Center Website and Contact Center can help patients and families who have a rare disease. Registration for this year's FDA-NIH Rare Disease Day is now open!

Symptoms of this disease may start to appear as a Newborn and as an Infant. The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges.

RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.

RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.

RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.

Signs and symptoms may include: cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities.

Tay-Sachs disease is a rare, inherited neurodegenerative disease. People with Tay-Sachs disease do not have enough of an enzyme called beta-hexosaminidase A. The less enzyme a person has, the more severe the disease and the earlier that symptoms appear.

Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. Contact a GARD Information Specialist for help finding an expert.

Symptoms of this disease may start to appear during Pregnancy and as a Newborn. The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age.