An autosomal dominant disorder in which a person has chronic high cholesterol.
An autosomal dominant disorder which does not show up until later in life often after the gene has been passed onto offspring. It is a neurodegenerative disorder that causes motor and cognitive impairment and eventually becomes fatal.
A genetic disorder of connective tissue that causes people to have a certain appearance: being abnormally tall with long limbs and digits. It can also affect other connective tissues such as heart valves and be fatal.
An autosomal dominant disorder in which the person is abnormally short in stature with short arms and legs.
A trait or disorder caused by the inheritance of at least one dominant allele on an autosome.