Single gene disorder
(A) Duchenne muscle dystrophy MENDELIAN DISORDERS/SINGLE GENE DISORDERSAutosomal DominantAutosomal RecessiveX-linked RecessiveX-linked DominantFAP of colonAchondroplasiaAcute intermittent porphyriaHyperlipoproteinemia1.2,3,4HemorrhagicHSHuntington's dsMarfan's syndromeNeurofibromatosisOsteogenesis imperfectaPolydactylyvWDRetinoblastomaPeutz Zeghers syndromeOsteosclerosisMost inborn error of metabolism e.g.AlbinismAlkaptonuriaAgammaglobulinemia(Swiss type)Cystic fibrosisMaple Syrup Urine dsHemochromatosisWilson's dsPKULysosomal storage dsGlycogenesis, Gaucher's ds., PK deficiency21-Hydoxylase def,CAHb-thalessemiaSickle cell anemiaHirschsprung's diseaseHemophiliaColor blindnessG-6-PD def.(incompletely dominant (expression)DICGDAgammaglobulinemia (Bruton's)Duchenne's and Becker'sMuscle dystrophyRPHydrocephalusOrnithine transcarbamylase deficiencyVit-D resistant/ hypophosphatemicRicketsAlport syndromeFamilialHypophosphatemiaBlood group XgIncontinentia PigmentiFabry's DS
Duchenne muscle dystrophy
Down syndrome
Turner syndrome
Klinefelter syndrome
Misc.