Genetic Conditions

Browse our database of genetic conditions with information from GeneReviews.

Filter by Category

All Categories Cancer Risk Cardiovascular Neurological Metabolic Blood Disorders Immunological Kidney Disorders Lung Disorders Musculoskeletal Endocrine Skin Disorders Eye Disorders Hearing Loss Developmental Psychiatric Other

Inheritance Patterns

AD Autosomal Dominant
AR Autosomal Recessive
XL X-Linked
MF Multifactorial
Neurological AD

Huntington Disease

Gene: HTT

A progressive brain disorder causing uncontrolled movements, emotional problems, and loss of thinking ability. Symptoms typically begin in adulthood.

Supportive Care
Learn More
Neurological AR

Spinal Muscular Atrophy

Gene: SMN1

A genetic neuromuscular disease affecting motor neurons, causing progressive muscle weakness. New treatments have transformed outcomes.

Treatment Available
Learn More
Neurological AR

Tay-Sachs Disease

Gene: HEXA

A fatal genetic disorder causing progressive destruction of nerve cells. Classic infantile form causes death by age 4-5.

Supportive Care
Learn More