| Denys–Drash syndrome |
| De Grouchy syndrome |
| Di George's syndrome |
| Distal hereditary motor neuropathies, multiple types |
| Ehlers–Danlos syndrome |
| Emery–Dreifuss syndrome |
| Erythropoietic protoporphyria |
| Fanconi anemia (FA) |
| Fabry disease |
| Factor V Leiden thrombophilia |
| Familial adenomatous polyposis |
| Familial dysautonomia |
| Feingold syndrome |
| FG syndrome |
| Friedreich's ataxia |
| G6PD deficiency |
| Galactosemia |
| Gaucher disease |
| Gillespie syndrome |
| Griscelli syndrome |
| Hailey-Hailey disease |
| Harlequin type ichthyosis |
| Hemochromatosis, hereditary |
| Hemophilia |
| Hepatoerythropoietic porphyria UROD |
| Hereditary coproporphyria |
| Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) |
| Hereditary Inclusion Body Myopathy |
| Hereditary multiple exostoses |
| Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) |
| Hermansky–Pudlak syndrome |
| Hereditary neuropathy with liability to pressure palsies (HNPP) |
| Homocystinuria |
| Huntington's disease |
| Hunter syndrome |
| Hurler syndrome |
| Hutchinson-Gilford progeria syndrome |
| Hyperoxaluria, primary |
| Hyperphenylalaninemia |
| Hypoalphalipoproteinemia (Tangier disease) |
| Hypochondrogenesis |
| Hypochondroplasia |
| Immunodeficiency, centromere instability and facial anomalies syndrome (ICF syndrome) |
| Incontinentia pigmenti |
| Isodicentric 15 |
| Jackson– Weiss syndrome |
| Joubert syndrome |
| Juvenile Primary Lateral Sclerosis (JPLS) |
| Keloid disorder |
| Kniest dysplasia |
| Kosaki overgrowth syndrome |
| Krabbe disease |
| Kufor–Rakeb syndrome |
| LCAT deficiency |
| Lesch-Nyhan syndrome) |
| Li-Fraumeni syndrome |
| Lynch Syndrome |
| Lipoprotein lipase deficiency, familial |
| Marfan syndrome |
| Maroteaux–Lamy syndrome |
| McCune–Albright syndrome |
| McLeod syndrome |
| MEDNIK syndrome |
| Mediterranean fever, familial |
| Menkes disease |
| Methemoglobinemia |
| methylmalonic acidemia |
| Micro syndrome |
| Microcephaly |
| Morquio syndrome |
| Mowat-Wilson syndrome |
| Muenke syndrome |
| Multiple endocrine neoplasia (type 1 and type 2) |
| Muscular dystrophy |
| Muscular dystrophy, Duchenne and Becker type |
| Myostatin-related muscle hypertrophy |
| myotonic dystrophy |
| Natowicz syndrome |
| Neurofibromatosis type I |
| Neurofibromatosis type II |
| Niemann–Pick disease |
| Nonketotic hyperglycinemia |
| nonsyndromic deafness |
| Noonan syndrome |
| Ogden syndrome |
| osteogenesis imperfecta |
| Pantothenate kinase-associated neurodegeneration |
| Patau Syndrome (Trisomy 13) |
| PCC deficiency (propionic acidemia) |
| Porphyria cutanea tarda (PCT) |
| Pendred syndrome |
| Peutz-Jeghers syndrome |
| Pfeiffer syndrome |
| phenylketonuria |
| Pitt–Hopkins syndrome |
| Polycystic kidney disease |
| Polycystic Ovarian Syndrome (PCOS) |
| porphyria |
| Prader-Willi syndrome |
| Primary ciliary dyskinesia (PCD) |
| primary pulmonary hypertension |
| protein C deficiency |
| protein S deficiency |
| Pseudo-Gaucher disease |
| Pseudoxanthoma elasticum |
| Retinitis pigmentosa |
| Rett syndrome |
| Rubinstein-Taybi syndrome (RSTS) |
| Sandhoff disease |
| Sanfilippo syndrome |
| Schwartz–Jampel syndrome |
| spondyloepiphyseal dysplasia congenita (SED) |
| Shprintzen–Goldberg syndrome FBN1 |
| sickle cell anemia |
| Siderius X-linked mental retardation syndrome |
| Sideroblastic anemia |
| Sly syndrome |
| Smith-Lemli-Opitz syndrome |
| Smith Magenis Syndrome |
| Spinal muscular atrophy |
| Spinocerebellar ataxia (types 1-29) |
| SSB syndrome (SADDAN) |
| Stargardt disease (macular degeneration) |
| Stickler syndrome |
| Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) |
| Tay-Sachs disease |
| tetrahydrobiopterin deficiency |
| thanatophoric dysplasia |
| Treacher Collins syndrome |
| Tuberous Sclerosis Complex (TSC) |
| Turner syndrome |
| Usher syndrome |
| Variegate porphyria |
| von Hippel-Lindau disease |
| Waardenburg syndrome |
| Weissenbacher-Zweymüller syndrome |
| Williams Syndrome |
| Wilson disease |
| Woodhouse–Sakati syndrome |
| Wolf–Hirschhorn syndrome |
| Xeroderma pigmentosum |
| X-linked mental retardation and macroorchidism (fragile X syndrome) |
| X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) |
| Xp11.22 deletion |
| X-linked severe combined immunodeficiency (X-SCID) |
| X-linked sideroblastic anemia (XLSA) |
| 47,XXX (triple X syndrome) |
| XXXX syndrome (48, XXXX) |
| XXXXX syndrome (49, XXXXX) |
| XYY syndrome (47,XYY) |
| 8. Population genetics |
| Modern synthesis |
| Four processes |
| Selection |
| Dominance |
| Epistasis |
| Mutation |
| Genetic drift |
| Gene flow |
| Horizontal gene transfer |
| Linkage |
| Applications |
| Explaining levels of genetic variation |
| Detecting selection |
| Demographic inference |
| Evolution of genetic systems |
| Quantitative genetics |
| Genetic epidemiology |
| Statistical genetics |
| 9. Genetic counseling |
