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