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.
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.