Albinism, Arthrogryposis Renal Dysfunction Cholestasis Syndrome, Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract, Bare Lymphocyte Syndrome 2, Breast Cancer, Cholestasis, Progressive Familial Intrahepatic 1, Cholestasis, Progressive Familial Intrahepatic 2, Cholestasis, Progressive Familial Intrahepatic 3, Congenital Chloride Diarrhea, Congenital Muscular Dystrophy, Congenital Nephrotic Syndrome Finnish Type, Down syndrome, Duchenne muscular dystrophy, Epidermolysis
bullosa, Hypoparathyroidism retardation dysmorphism syndrome, Joubert syndrome, Muscular dystrophy, Neurogenetic and neurometabolic
disorders, Osteogenesis imperfecta, Sickle cell anemia, Spinal muscular atrophy, Thalassemia, Adolescent nephronophthisis, Infantile nephronophthisis
Dystrophic epodermolysis
bullosa, or DEB, is an inherited skin fragility
disorder characterized by skin blistering, abnormal wound healing and excessive scarring, which often leads to aggressive skin cancer.