Terms : Hide Images
| 5186454034 | Angelman Syndrome | 0 | ||
| 5188181356 | Li-Fraumeni Syndrome | A.D germline mutations affecting the p53 gene located on 17p13 Clinical Manifestation: onset of malignancies at young age Dx: DNA analysis of p53 Tx: Early screening, | 1 | |
| 5187635085 | Down syndrome | 47,XX,+21 most common causes: nondisjuction (95%), Simian creases 100% develop Alzheimer disease | 2 | |
| 5187632550 | Edwards' syndrome | 47,XY,+18 | 3 | |
| 5187632551 | Patau's Syndrome | 47,XX,+13 | 4 | |
| 5187630767 | Klinefelter's syndrome | 47,XXY | 5 | |
| 5187728612 | Cri-du-chat- syndrome | Micro-Deletion of chromosome 5 *High pitched, cat-like cry* | 6 | |
| 5187729939 | Williams Syndrome | Micro-Deletion of Chromosome 7 Deficiency of elastin Mental Retardation "Elfin" face Hypercalcemia | 7 | |
| 5187736762 | DiGeorge Syndrome | Micro-Deletion of Chromosome 22 Thymic, parathyroid, and cardiac problems CATCH-22 | 8 | |
| 5186447413 | Prader-Willi Syndrome | 9 | ||
| 5187635084 | Turner Syndrome | 10 | ||
| 5187768634 | Achondroplasia | A.D form of dwarfism; mutation of the fibroblast growth factor receptor 3 (FGFR3) Abnormal Cartilage Synthesis Decreased Epithelial bone formation Short limbs, proportionately large body and head, "saddle nose" | 11 | |
| 5187796650 | Polycystic Kidney Disease | 12 | ||
| 5187801630 | Familial Adenomatous Polyposis | 13 | ||
| 5187805651 | Familial Hypercholesterolemia |  | 14 | |
| 5187814087 | Hereditary Hemorrhagic Telangiectasia | 15 | ||
| 5187819292 | Hereditary Spherocytosis | 16 | ||
| 5187826209 | Huntington's Disease | A.D | 17 | |
| 5187833269 | Marfan Syndrome | A.D mutation | 18 | |
| 5187847973 | Multiple Endocrine Neoplasia Syndromes | 19 | ||
| 5187849977 | Neurofibromatosis |  | 20 | |
| 5187858999 | Tuberous Sclerosis | A.D |  | 21 |
| 5187866773 | von Hippel-Lindau Disease | 22 | ||
| 5187878605 | Albinism | 23 | ||
| 5187880702 | Autosomal Recessive polycystic kidney disease | 24 | ||
| 5187884936 | Glycogen storage diseases | 25 | ||
| 5187887412 | Hemochromatosis | 26 | ||
| 5187891482 | Mucopolysaccharidoses | 27 | ||
| 5187893579 | Phenylketonuria | 28 | ||
| 5187893580 | Sickle Cell Anemia | 29 | ||
| 5187896677 | Sphingolipidoses | 30 | ||
| 5187896678 | Thalassemias | 31 | ||
| 5187899320 | Cystic Fibrosis | 32 | ||
| 5187915920 | Bruton's agammaglobulinemia | 33 | ||
| 5187917750 | Wiskott-Aldrich Syndrome | 34 | ||
| 5187919222 | Fabry's Disease | 35 | ||
| 5187921222 | G6PD Deficiency | 36 | ||
| 5187921223 | Ocular Albinism | 37 | ||
| 5187923465 | Lesch-Nyhan Syndrome | 38 | ||
| 5187926127 | Duchenne's Muscular Dystrophy | frame shift mutation of dystrophin gene on chromosome X leading to ineffective dystrophin protein |  | 39 |
| 5187941025 | Becker's Muscular Dystrophy | 40 | ||
| 5187941026 | Hunter's Syndrome | 41 | ||
| 5187944032 | Hemophilia A and B | 42 | ||
| 5187965292 | Fragile X Syndrome | 43 | ||
| 5187978055 | Friedreich's Ataxia | 44 | ||
| 5187982984 | Myotonic Dystrophy | 45 |
