Includes bibliographical references and index.

18p deletion syndrome -- 18q deletion syndrome -- 22q11.2 deletion syndrome -- 22q13 deletion syndrome -- 3-m syndrome -- 13-methylglutaconic aciduria type 2 -- 46,xx testicular disorder of sex development -- Aarskog syndrome -- Abetalipoproteinemia -- Absence of vas deferens -- Accutane embryopathy -- Aceruloplasminemia -- Achondrogenesis -- Achondroplasia -- ACHOO syndrome -- Acrocallosal syndrome (ACLS) Schinzel type-Joubert syndrome and related disorders -- Acromegaly -- Adams-Oliver syndrome -- Adelaide-type craniosynostosis -- Adenylosuccinate lyase deficiency -- Adrenoleukodystrophy -- Agenesis of the corpus callosum -- Aicardi syndrome -- Ala dehydratase deficiency -- Alagille syndrome -- Albinism -- Alcoholism -- Alexander disease -- Alkaptonuria -- Alpha thalassemia -- Alpha-1 antitrypsin deficiency -- Alpha-thalassemia x-linked intellectual disability syndrome -- Alport syndrome -- Alstrom syndrome -- Alzheimer's disease -- Ambiguous genitalia -- Amelia -- Amelogenesis imperfecta -- Amniocentesis -- Amyloidosis -- Amyotrophic lateral sclerosis -- Androgen insensitivity syndrome -- Anencephaly -- Angelman syndrome -- Ankylosing spondylitis -- Apert syndrome -- Arginase deficiency -- Arnold-Chiari malformation -- Arthrogryposis multiplex congenita -- Arthropathy-camptodactyly syndrome -- Asperger syndrome -- Asplenia -- Asthma -- Astrocytoma -- Ataxia-telangiectasia -- Attention deficit hyperactivity disorder -- Atypical Singleton-Merten syndrome -- Autism spectrum disorders -- Autosomal dominant multiple pterygium syndrome -- AUTS2 syndrome -- Bardet-biedl syndrome -- Beare-Stevenson cutis gyrata syndrome -- Beckwith-Wiedemann syndrome -- Beta thalassemia -- Bicuspid aortic valve -- Biotinidase deficiency -- Bipolar disorder -- Birt-Hogg-Dube syndrome -- Bloom syndrome -- Blue rubber bleb nevus syndrome -- Brachydactyly -- Branchiootonglyrenal (BOR) syndrome -- Breast cancer -- Bruton agammaglobulinemia -- Campomelic dysplasia -- Camurati-Engelmann disease -- Canavan disease -- Cancer -- Cancer genetics -- Cardiofaciocutaneous syndrome -- Carnitine palmitoyltransferase deficiency -- Carpenter syndrome -- Caudal dysplasia -- Cecr1 gene-recurrent fevers and strokes in children -- Celiac disease -- Cell-free DNA test -- Cenani-Lenz syndrome -- Central core disease -- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) -- Cerebral palsy -- Channelopathies -- Charcot-Marie-tooth disease -- Charge syndrome -- Chediak-Higashi syndrome -- Chondrodysplasia punctata -- Chondrosarcoma -- CHOPS syndrome -- Chorionic villus sampling -- Choroideremia -- Chromosomal abnormalities -- Chromosome -- Cleft lip and palate -- Cleidocranial dysplasia -- Clubfoot -- Cockayne syndrome -- CODAS syndrome -- Coffin-Lowry syndrome -- Coffin-Siris syndrome -- Cohen syndrome -- Cole-carpenter syndrome -- Colitis -- Collagenopathy, types II and XI -- Coloboma -- Color blindness -- Combined pituitary hormone deficiency -- Cone-rod dystrophy -- Congenital adrenal hyperplasia -- Congenital contractural arachnodactyly -- Congenital heart disease -- Congenital hypothyroid syndrome -- Congenital microcoria -- Conjoined twins -- Connectome genetics -- Corneal dystrophy -- Cornelia de lange syndrome -- Costello syndrome -- Cowden syndrome -- Crane-Heise syndrome -- Craniofacial macrosomia -- Craniosynostosis -- Creutzfeldt-Jakob disease -- Cri du chat syndrome -- CRISPR/Cas -- Crohn's disease -- Crouzon syndrome -- Crouzonodermoskeletal syndrome -- Cystic brosis -- Cystinosis -- Cystinuria -- Dandy-walker malformation -- De novo -- Ementia, hereditary forms -- Dent disease -- Dentatorubral-pallidoluysian atrophy -- Depression -- Diabetes -- Diamond-Blackfan anemia -- Diastrophic dysplasia -- DNA (deoxyribonucleic acid) -- Donohue syndrome -- Down syndrome -- Duane retraction syndrome -- Dubowitz syndrome -- Duchenne and Becker muscular dystrophy -- Dyschondrosteosis -- Dysplasia -- Dystonia -- Ectodermal dysplasia -- Ectrodactyly-ectodermal dysplasia-clefting syndrome -- Edwards syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Emery-Dreifuss muscular dystrophy -- Encephalocele -- Epidermolysis bullosa -- Epilepsy -- Erythropoietic porphyria -- Erythropoietic protoporphyria -- Essential hypertension -- Essential tremor -- Exome sequencing --

Fabry disease -- Facioscapulohumeral muscular dystrophy -- Factor V Leiden thrombophilia -- Familial adenomatous polyposis -- Familial dysautonomia -- Familial idiopathic basal ganglia calcification -- Familial lipoprotein iipase deficiency -- Familial Mediterranean fever -- Fanconi anemia -- Fanconi-Bickel syndrome -- Feingold syndrome -- Fetal alcohol syndrome -- FG syndrome -- Fibroblast growth factor receptor-related conditions -- First-trimester pregnancy screening -- Fluorescent in situ hybridization -- Focal dermal hypoplasia -- Fragile x syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Frontotemporal dementia -- Fryns syndrome -- Galactosemia -- Galactosialidosis -- Gastric cancer -- Gastroschisis -- Gaucher disease -- Gene -- Gene fusion -- Gene mutations -- Gene panel testing -- Gene pool -- Gene therapy -- Genetic counseling -- Genetic disorders -- Genetic information nondiscrimination act (GINA) -- Genetic mapping -- Genetic testing -- Genetics and congenital anomalies -- Genome -- Genome sequencing -- Genome- and epigenome-wide association studies -- Genotype and phenotype -- Genotype tissue expression project (GTEX) -- Giant congenital melanocytic nevus -- Glanzmann thrombasthenia -- Glaucoma -- Glycine encephalopathy -- Glycogen storage diseases -- GM1-gangliosidosis -- Greig cephalopolysyndactyly -- Griscelli syndrome -- Haim-Munk syndrome -- Hair loss syndromes -- Hallermann-Streiff syndrome -- Hand-foot-genital syndrome -- Harlequin ichthyosis -- Hemihypertrophy (hemihyperplasia) -- Hemochromatosis -- Hemolytic-uremic syndrome -- Hemophilia -- Hepatocellular carcinoma -- Herceptin -- Hereditary angioneurotic edema -- Hereditary colorectal cancer -- Hereditary coproporphyria -- Hereditary desmoid disease -- Hereditary hearing loss and deafness -- Hereditary hemorrhagic telangiectasia -- Hereditary hypertrophic cardiomyopathy -- Hereditary multiple osteochondromas -- Hereditary neuropathy with liability to pressure palsies -- Hereditary pancreatitis -- Hereditary spastic paraplegia -- Hereditary spherocytosis -- Hermansky-Pudlak syndrome -- Hermaphroditism -- Hirschsprung disease -- Holoprosencephaly -- Holt-Oram syndrome -- Homocystinuria -- Human genome project -- Huntington's disease -- Hutchinson-Gilford progeria syndrome -- Hydrocephalus -- Hydrolethalus syndrome 1 (HLS1) -- Hydrops fetalis -- Hyperlipoproteinemia -- Hyperoxaluria -- Hyperphenylalaninemia -- Hypochondrogenesis -- Hypochondroplasia -- Hypophosphatasia -- Hypophosphatemia -- Hypospadias and epispadias -- Ichthyosis -- Imprinting -- Incontinentia pigmenti -- Inheritance -- Inherited arrhythmia -- Jackson-Weiss syndrome -- Jacobsen syndrome -- Jervell and Lange-Nielsen syndrome -- Joubert syndrome -- Kabuki syndrome -- Kallmann syndrome -- Karyotype -- Keppen-Lubinsky syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay-Weber syndrome -- Kniest dysplasia -- Krabbe disease -- L1 syndrome -- Langer-Saldino achondrogenesis -- Larsen syndrome -- Laterality sequence -- Leber congenital amaurosis -- Lebers hereditary optic atrophy -- Leigh syndrome -- Lesch-Nyhan syndrome -- Leukodystrophy -- Li-Fraumeni syndrome -- Limb-girdle muscular dystrophy -- Lissencephaly -- Long QT syndrome -- Lowe oculocerebrorenal syndrome -- Lupus -- Lynch syndrome -- Macular degeneration, age-related -- Major histocompatibility complex -- Male infertility -- Malignant hyperthermia -- Mannosidosis -- Marfan syndrome -- Marshall syndrome -- Marshall-Smith syndrome -- MCAD deficiency -- McCune-Albright syndrome -- McKusick-Kaufman syndrome -- Meckel-Gruber syndrome -- Meckel's diverticulum -- Menkes syndrome -- Metaphyseal dysplasia -- Methemoglobinemia, beta-globin type -- Methylmalonic acidemia -- Micro syndrome -- Microbiome -- Microcephaly (childhood) -- Microcephaly and hypomyelination -- Microcephaly with spastic diplegia -- Microphthalmia with linear skin defects -- Miller-Dieker syndrome -- Mitochondrial disease -- Moebius syndrome -- Monosomy 1p36 syndrome -- Mowat-Wilson syndrome -- Moyamoya -- Mucolipidosis -- Mucopolysaccharidoses -- Muir-Torre syndrome -- Multifactorial inheritance -- Multiple endocrine neoplasia -- Multiple epiphyseal dysplasia -- Multiple lentigines syndrome -- Multiple sclerosis -- Multiplex ligation-dependent probe amplification -- Muscular dystrophy -- Myasthenia gravis -- MYH9-related disorders -- Myopia -- Myotonia congenita -- Myotonic dystrophy -- Myotubular myopathy -- Nail-patella syndrome -- Nance-Insley syndrome -- Narcolepsy -- Nephrogenic diabetes insipidus -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis -- Neuronal ceroid lipofuscinoses -- Nevoid basal cell carcinoma -- Next-generation sequencing -- NGLY1 deficiency -- Niemann-Pick disease -- Nijmegen breakage syndrome -- Noonan syndrome -- Norrie disease -- Obesity -- Oculodentodigital syndrome -- Oligohydramnios sequence -- Omphalocele -- Oncogene -- Opitz syndrome -- Oral-facial-digital syndrome -- Organic acidemias -- Ornithine transcarbamylase deficiency -- Osteoarthritis -- Osteogenesis imperfecta -- Osteoporosis -- Osteosarcoma -- Otopalatodigital syndrome -- Ovarian cancer --

Pallister-Hall syndrome -- Pallister-Killian syndrome -- Pancreatic beta cell agenesis -- Pancreatic cancer -- Panic disorder -- Pantothenate kinase-associated neurodegeneration -- Parkes weber syndrome -- Parkinson's disease -- Paroxysmal nocturnal hemoglobinuria -- Patent ductus arteriosus -- Pedigree analysis -- Pelizaeus-Merzbacher disease -- Pendred syndrome -- Pervasive developmental disorders -- Peutz-Jeghers syndrome -- Pfeiffer syndrome -- Pharmacogenetics -- Phenylketonuria (PKU) -- Pierre-Robin sequence -- Poland anomaly -- Polycystic kidney disease -- Polycystic ovary syndrome -- Polydactyly -- Pompe disease -- Pontocerebellar hypoplasia (PCH) -- Porphyrias -- Prader-Willi syndrome -- Preimplantation genetic diagnosis -- Prenatal ultrasound -- Primary ciliary dyskinesia -- Primary familial brain calcification -- Primordial dwarfism -- Prion diseases -- Propionic acidemia -- Prostate cancer -- Protein C deficiency -- Protein S deficiency -- Proteus syndrome -- PRPS1 gene mutation, progressive hearing loss -- Prune-Belly syndrome -- Pseudo-Gaucher disease -- Pseudoachondroplasia -- Pseudoxanthoma elasticum -- PTSD (post-traumatic stress disorder) -- Pulmonary arterial hypertension -- Pyloric stenosis -- Pyruvate carboxylase deficiency -- Pyruvate dehydrogenase complex deficiency -- Pyruvate kinase deficiency -- Raynaud's disease -- Refsum disease -- Renal agenesis -- Renal failure due to hypertension -- Renal-hepatic ciliopathy -- Renpenning syndrome -- Retinitis pigmentosa -- Retinoblastoma -- Rett syndrome -- Rheumatoid arthritis -- Rhizomelic chondrodysplasia punctata -- Rhodopsin -- Rieger syndrome -- RNA (ribonucleic acid) -- Roberts SC phocomelia -- Robinow syndrome -- Rothmund-Thomson syndrome -- Rubinstein-Taybi syndrome -- Russell-Silver syndrome -- Saethre-Chotzen syndrome -- Schinzel-Giedion syndrome -- Schizophrenia -- Schwartz-Jampel syndrome -- Scleroderma -- Sclerosing bone dysplasias -- Scoliosis -- Seckel syndrome -- Selfish gene theory -- Septo-optic dysplasia -- Severe combined immunodeficiency -- Short-rib thoracic dysplasia with or without polydactyly -- Shprintzen-Goldberg craniosynostosis syndrome -- Sialidosis -- Sickle cell disease -- Simpson-Golabi-Behmel syndrome -- Single genome sequencing -- Sirenomelia -- Sjogren-Larsson syndrome -- Skeletal dysplasia -- Smith-Fineman-Myers syndrome -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- SPARCA1 spectrin-associated autosomal recessive cerebellar ataxia type1 -- Spastic cerebral palsy -- Spina bifida -- Spinal and bulbar muscular atrophy -- Spinal muscular atrophy -- Spinocerebellar ataxia -- Spinocerebellar ataxia 3 -- Spondyloepiphyseal dysplasia -- Spondyloepiphyseal dysplasia congenita -- SRY (sex-determining region Y) -- Stargardt disease -- Steroid-resistant nephrotic syndrome type 2/Gallowaymowat syndrome -- Stickler syndrome -- Sturge-Weber syndrome -- Super enhancers (SE) -- SWI/SNF-related autism syndrome -- Tangier disease -- Tar syndrome -- Tay-Sachs disease -- Teratogen -- Thalidomide embryopathy -- Thanatophoric dysplasia -- Thoracic aortic aneurysms -- Thyroid hormone resistance syndrome -- Tourette syndrome -- Treacher Collins syndrome -- Trichorhinophalangeal syndrome -- Triose phosphate isomerase deficiency -- Triple X syndrome -- Triploidy -- Trismus-pseudocamptodactyly syndrome -- Trisomy 8 mosaicism syndrome -- Trisomy 13 -- Tuberous sclerosis complex -- Turner syndrome -- Twin reversed arterial perfusion (TRAP) sequence -- Urea cycle disorders -- Urogenital adysplasia syndrome -- Usher syndrome -- Van der Woude syndrome -- Vater association -- Von Hippel-Lindau syndrome -- Von Willebrand disease -- Waardenburg syndrome -- Walker-Warburg syndrome -- Weaver syndrome -- Weissenbacher-Zweymuller syndrome -- Werner syndrome -- Williams syndrome -- Wilson disease -- Wiskott-Aldrich syndrome -- Wolf-Hirschhorn syndrome -- Wolman disease -- X-linked intellectual disability -- X-linked severe combined immunodeficiency -- X-linked sideroblastic anemia -- Xeroderma pigmentosum -- Xmen -- XXXX syndrome -- XXXXX syndrome -- XYY syndrome -- YY syndrome -- Zellweger spectrum -- Zimmermann-Laband syndrome -- Zinner syndrome -- Zygote.

Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand in language accessible to laypersons.

Description based on print version record.