achondroplasia (FGF-R 3)
AD
adult PKD (APKD1, chromosome 16)
AD
albinism
AR
Bruton’s agammaglobinemia
XLR
cystic fibrosis
AR
Duchenne (and Becker’s)
XLR
Fabry’s
XLR
familial adenomatous polyposis (APC gene, chromosome 5)
AD
familial hypercholesterolemia (LDL-R)
AD
fragile x
CGG repeats
Friedrich’s ataxia
AR (GAA repeats, chromosome 9)
G6PD deficiency
XLR
glycogen storage diseases
AR
hemochromatosis
AR
Hemophilia A and B
XLR
hereditary hemorrhagic telangiectasias = Osler-Weber-Rendu syndrome
AD
hereditary spherocytosis (spectrin or ankyrin)
AD
Hunter’s syndrome
XLR
Huntington (chromosome 4)
AD
infantile PKD
AR
Lesch-Nyhan syndrome
XLR
Marfan’s
AD
MEN
AD
mucopolysaccharidoses (except Hunter’s)
AR