CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births.
Lysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes.
Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray.
Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells.