Autosomal dominant and X-linked disorders

Familial Hypercholesterolemia (low density lipoprotein receptor)

#19, LDLR gene

Huntington’s disease (nerve cells)

#4, HTT gene

Marfan syndrome (connective tissue)

#15, FBN1 gene

Achondroplasia (short-limbed dwarfism)

#4, FGFR3 gene

Cycstic Fibrosis (thick mucus in lungs)

#7, CFTR gene

Sickle Cell Anemia (stiff red blood cells)

#11, HBB gene

Tay-Sachs disease (lysosomal storage)

#15, HEXA

Albinism (no melanin)

#11, TYR gene

Hemophilia A (blood cannot clot)

F8 Gene

Hemophilia B (blood cannot clot)

F9 gene

Red Geren color blindness

OPN1LW, OPN1MW, OPN1SW genes

Duchenne Muscular Dystrophy (dystrophin cannot be produced)

DMD gene

Rett syndrome (can’t learn/communicate, no brain funciton)

MECP2 gene

Fragile X Syndrome (cognitie impairment)

FMR1 gene. 1 in 4000 males and 1 in 1 in 8000 females