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The Gale encyclopedia of genetic disorders
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ISBN
9781410332806
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Table of Contents
From the eBook - Fourth edition.
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.
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