Coffin-Siris syndrome is a genetic condition that affects multiple body systems. Variants in the ARID1B gene are the most common [...]
Albinism is a recessive genetic condition that causes the absence or reduction of pigmentation in the hair, skin and eyes.
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.
Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin.
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs [...]