Fragile X syndrome
Fragile X syndrome (FXS) is a genetic condition that causes [...]
Familial dysautonomia
Familial dysautonomia (FD) affects the autonomic and sensory nervous systems [...]
Down Syndrome
Individuals born with Down syndrome have an extra copy of [...]
Cystic Fibrosis
Cystic fibrosis (CF) is a life-threatening condition, which causes mucus [...]
Costello Syndrome
Costello syndrome affects many different parts of the body. Signs [...]
22q11.2 Deletion
Common features associated with 22q11.2 deletion syndrome include cleft palate, [...]
Albinism
Albinism is a recessive genetic condition that causes the absence or reduction of pigmentation in the hair, skin and eyes.