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Index of Review Titles The following is a list of titles of reviews in the GeneReviews database. If your search term is not listed below, try searching for your term. [ 1 | 2 | 3 | 4 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | v ] 1p36 Deletion Syndrome 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 22q11.2 Deletion Syndrome 22q11.2 Duplication 22q13.3 Deletion Syndrome 2q37 Deletion Syndrome 3-M Syndrome 3-Methylglutaconic Aciduria Type 3 46,XX Testicular Disorder of Sex Development 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis ALS2-Related Disorders APC-Associated Polyposis Conditions ARSACS ATP6V0A2-Related Cutis Laxa ATP7A-Related Copper Transport Disorders Aceruloplasminemia Achondrogenesis Type 1B Achondroplasia Achromatopsia Acid Sphingomyelinase Deficiency Acute Intermittent Porphyria Adenosine Deaminase Deficiency Adrenal Hypoplasia Congenita, X-Linked Adrenoleukodystrophy, X-Linked Adult Polyglucosan Body Disease Agammaglobulinemia, X-Linked Aicardi Syndrome Aicardi-Goutieres Syndrome Alagille Syndrome Alexander Disease Alkaptonuria Alpha-Mannosidosis Alpha-Thalassemia Alpha-Thalassemia X-Linked Mental Retardation Syndrome Alpha1-Antitrypsin Deficiency Alstrom Syndrome Alzheimer Disease Overview Alzheimer Disease, Early-Onset Familial Amish Lethal Microcephaly Amyotrophic Lateral Sclerosis Overview Andersen-Tawil Syndrome Androgen Insensitivity Syndrome Angelman Syndrome Aniridia Anophthalmia / Microphthalmia Overview Arginase Deficiency Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy, Autosomal Dominant Arts Syndrome Arylsulfatase A Deficiency Ataxia Overview Ataxia with Oculomotor Apraxia Type 1 Ataxia with Oculomotor Apraxia Type 2 Ataxia with Vitamin E Deficiency Ataxia-Telangiectasia Atelosteogenesis Type 2 Atypical Hemolytic-Uremic Syndrome Autism Overview Autoimmune Lymphoproliferative Syndrome Autosomal Dominant Partial Epilepsy with Auditory Features BMPR2-Related Pulmonary Arterial Hypertension BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer BSCL2-Related Neurologic Disorders Baller-Gerold Syndrome Bardet-Biedl Syndrome Basal Ganglia Calcification, Familial Idiopathic Beckwith-Wiedemann Syndrome Berardinelli-Seip Congenital Lipodystrophy Best Vitelliform Macular Dystrophy Beta-Thalassemia Biotinidase Deficiency Birt-Hogg-Dube Syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus Bloom's Syndrome Branchiootorenal Syndrome Brugada Syndrome CADASIL CDC73-Related Disorders CFTR-Related Disorders CHARGE Syndrome CHMP2B-Related Frontotemporal Dementia CLCN7-Related Osteopetrosis COL4A1-Related Disorders Calpainopathy Campomelic Dysplasia Camurati-Engelmann Disease Canavan Disease Cardiofaciocutaneous Syndrome Carney Complex Carnitine Palmitoyltransferase 1A Deficiency Carnitine Palmitoyltransferase II Deficiency Catecholaminergic Polymorphic Ventricular Tachycardia Caveolinopathies Celiac Disease Central Core Disease Cerebral Cavernous Malformation, Familial Cerebrotendinous Xanthomatosis Char Syndrome Charcot-Marie-Tooth Hereditary Neuropathy Overview Charcot-Marie-Tooth Neuropathy Type 1 Charcot-Marie-Tooth Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy Type 2A Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V Charcot-Marie-Tooth Neuropathy Type 2E/1F Charcot-Marie-Tooth Neuropathy Type 4 Charcot-Marie-Tooth Neuropathy Type 4A Charcot-Marie-Tooth Neuropathy Type 4C Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5 Chediak-Higashi Syndrome Cherubism Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter Chondrodysplasia Punctata 1, X-Linked Recessive Chorea-Acanthocytosis Choroideremia Citrin Deficiency Citrullinemia Type I Cleidocranial Dysplasia Cockayne Syndrome Coffin-Lowry Syndrome Cohen Syndrome Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) Collagen Type VI-Related Disorders Common Variable Immune Deficiency Overview Congenital Central Hypoventilation Syndrome Congenital Contractural Arachnodactyly Congenital Diaphragmatic Hernia Overview Congenital Disorder of Glycosylation Type 1a Congenital Disorders of Glycosylation Overview Congenital Dyserythropoietic Anemia Type 1 Congenital Fiber-Type Disproportion Congenital Fibrosis of the Extraocular Muscles Congenital Hepatic Fibrosis Overview Congenital Ichthyosis, Autosomal Recessive Congenital Muscular Dystrophy Overview Congenital Myasthenic Syndromes Congenital Stromal Corneal Dystrophy Cornelia de Lange Syndrome Costello Syndrome Craniofacial Microsomia Overview Craniometaphyseal Dysplasia Craniosynostosis Syndromes, FGFR-Related Creatine Deficiency Syndromes Cystinosis Cytochrome P450 Oxidoreductase Deficiency DCX-Related Disorders DFNA2 Nonsyndromic Hearing Loss DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form DRPLA Deafness and Hereditary Hearing Loss Overview Deafness-Dystonia-Optic Neuronopathy Syndrome Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Diabetes Mellitus, 6q24-Related Transient Neonatal Diamond-Blackfan Anemia Diastrophic Dysplasia Dilated Cardiomyopathy Overview Disorders of Intracellular Cobalamin Metabolism Donnai-Barrow Syndrome Dopamine Beta-Hydroxylase Deficiency Duane Syndrome, Isolated Dysferlinopathy Dystonia Overview Dystonia, Early-Onset Primary (DYT1) Dystrophic Epidermolysis Bullosa Dystrophinopathies ELA2-Related Neutropenia Ehlers-Danlos Syndrome, Classic Type Ehlers-Danlos Syndrome, Hypermobility Type Ehlers-Danlos Syndrome, Kyphoscoliotic Form Ehlers-Danlos Syndrome, Vascular Type Emanuel Syndrome Emery-Dreifuss Muscular Dystrophy Enlarged Parietal Foramina/Cranium Bifidum Epidermolysis Bullosa Simplex Epidermolysis Bullosa with Pyloric Atresia Episodic Ataxia Type 2 Esophageal Atresia/Tracheoesophageal Fistula Overview FBLN5-Related Cutis Laxa FLNB-Related Disorders FMR1-Related Disorders FRMD7-Related Infantile Nystagmus Fabry Disease Facioscapulohumeral Muscular Dystrophy Factor V Leiden Thrombophilia Familial Dysautonomia Familial Exudative Vitreoretinopathy, Autosomal Dominant Familial Hemiplegic Migraine Familial Hyperinsulinism (FHI) Familial Hypertrophic Cardiomyopathy Overview Familial Mediterranean Fever Familial Paroxysmal Kinesigenic Dyskinesia Familial Paroxysmal Nonkinesigenic Dyskinesia Fanconi Anemia Feingold Syndrome Focal Dermal Hypoplasia Free Sialic Acid Storage Disorders Friedreich Ataxia Frontotemporal Dementia with Parkinsonism-17 Fryns Syndrome Fukuyama Congenital Muscular Dystrophy Fumarate Hydratase Deficiency GATA1-Related Cytopenia GRN-Related Frontotemporal Dementia GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Galactosemia Gaucher Disease Genetic Prion Diseases Giant Axonal Neuropathy Glucose Transporter Type 1 Deficiency Syndrome Glycine Encephalopathy Glycogen Storage Disease Type I Glycogen Storage Disease Type II (Pompe Disease) Glycogen Storage Disease Type V Glycogen Storage Disease Type VI Greig Cephalopolysyndactyly Syndrome HFE-Associated Hereditary Hemochromatosis Hand-Foot-Genital Syndrome Hemophagocytic Lymphohistiocytosis, Familial Hemophilia A Hemophilia B Hepatic Veno-Occlusive Disease with Immunodeficiency Hereditary Diffuse Gastric Cancer Hereditary Folate Malabsorption Hereditary Hemorrhagic Telangiectasia Hereditary Leiomyomatosis and Renal Cell Cancer Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Hereditary Multiple Osteochondromas Hereditary Neuralgic Amyotrophy Hereditary Neuropathy with Liability to Pressure Palsies Hereditary Non-Polyposis Colon Cancer Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary Sensory Neuropathy Type I Hereditary Sensory and Autonomic Neuropathy IV Hereditary Spastic Paraplegia Overview Hermansky-Pudlak Syndrome Hexosaminidase A Deficiency Hidrotic Ectodermal Dysplasia 2 Hirschsprung Disease Overview Holoprosencephaly Overview Holt-Oram Syndrome Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Huntington Disease Huntington Disease-Like 2 Hutchinson-Gilford Progeria Syndrome Hyalinosis, Inherited Systemic Hyperekplexia Hyperkalemic Periodic Paralysis Type 1 Hyperoxaluria, Primary, Type 1 Hypochondroplasia Hypogonadotropic Hypogonadism Overview Hypohidrotic Ectodermal Dysplasia Hypokalemic Periodic Paralysis Hypomyelination and Congenital Cataract Hypophosphatasia IPEX Syndrome IRF6-Related Disorders Inclusion Body Myopathy 2 Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia Incontinentia Pigmenti Infantile Neuroaxonal Dystrophy Infantile-Onset Spinocerebellar Ataxia Jervell and Lange-Nielsen Syndrome Joubert Syndrome Junctional Epidermolysis Bullosa Juvenile Hereditary Hemochromatosis Juvenile Polyposis Syndrome Kallmann Syndrome Krabbe Disease L1 Syndrome LEOPARD Syndrome LIS1-Associated Lissencephaly/Subcortical Band Heterotopia LMNA-Related Dilated Cardiomyopathy LRRK2-Related Parkinson Disease Laing Distal Myopathy Leber Congenital Amaurosis Leber Hereditary Optic Neuropathy Lenz Microphthalmia Syndrome Lesch-Nyhan Syndrome Li-Fraumeni Syndrome Limb-Girdle Muscular Dystrophy Overview Lipoprotein Lipase Deficiency, Familial Loeys-Dietz Syndrome Low Gamma-GT Familial Intrahepatic Cholestasis Lowe Syndrome Lymphedema-Distichiasis Syndrome Lymphoproliferative Disease, X-Linked Lysinuric Protein Intolerance MECP2 Duplication Syndrome MECP2-Related Disorders MED12-Related Disorders MELAS MERRF MYH9-Related Disorders Majeed Syndrome Malignant Hyperthermia Susceptibility Manitoba Oculotrichoanal Syndrome Maple Syrup Urine Disease Marfan Syndrome Marinesco-Sjogren Syndrome McKusick-Kaufman Syndrome McLeod Neuroacanthocytosis Syndrome Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Megalencephalic Leukoencephalopathy with Subcortical Cysts Methylmalonic Acidemia Microphthalmia with Linear Skin Lesions Syndrome Milroy Disease Mitochondrial DNA Deletion Syndromes Mitochondrial DNA-Associated Leigh Syndrome and NARP Mitochondrial Disorders Overview Mitochondrial Neurogastrointestinal Encephalopathy Disease Mowat-Wilson Syndrome Mucolipidosis II Mucolipidosis III Alpha/Beta Mucolipidosis IV Mucopolysaccharidosis Type I Mucopolysaccharidosis Type II Muenke Syndrome Multiminicore Disease Multiple Cutaneous and Mucosal Venous Malformations Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2 Multiple Epiphyseal Dysplasia, Dominant Multiple Epiphyseal Dysplasia, Recessive Multiple Sclerosis Overview Myoclonus-Dystonia Myofibrillar Myopathy Myopathy with Deficiency of ISCU Myostatin-Related Muscle Hypertrophy Myotonia Congenita Myotonic Dystrophy Type 1 Myotonic Dystrophy Type 2 Myotubular Myopathy, X-Linked NDP-Related Retinopathies Nail-Patella Syndrome Nemaline Myopathy Nephrogenic Diabetes Insipidus Neuroferritinopathy Neurofibromatosis 1 Neurofibromatosis 2 Neuronal Ceroid-Lipofuscinosis Nevoid Basal Cell Carcinoma Syndrome Niemann-Pick Disease Type C Nijmegen Breakage Syndrome Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant Nonsyndromic Hearing Loss and Deafness, DFNA3 Nonsyndromic Hearing Loss and Deafness, DFNB1 Nonsyndromic Hearing Loss and Deafness, Mitochondrial Noonan Syndrome OTOF-Related Deafness Ocular Albinism, X-Linked Oculocutaneous Albinism Type 1 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type 4 Oculopharyngeal Muscular Dystrophy Optic Atrophy Type 1 Oral-Facial-Digital Syndrome Type I Organic Acidemias Overview Osteogenesis Imperfecta Otopalatodigital Spectrum Disorders PLP1-Related Disorders PROP1-Related Combined Pituitary Hormone Deficiency PTEN Hamartoma Tumor Syndrome Pachyonychia Congenita Pallister-Hall Syndrome Pantothenate Kinase-Associated Neurodegeneration Parkin Type of Juvenile Parkinson Disease Parkinson Disease Overview Pendred Syndrome/DFNB4 Periventricular Heterotopia, X-Linked Permanent Neonatal Diabetes Mellitus Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peters Plus Syndrome Peutz-Jeghers Syndrome Phenylalanine Hydroxylase Deficiency Phosphoribosylpyrophosphate Synthetase (PRS) Superactivity Polycystic Kidney Disease, Autosomal Dominant Polycystic Kidney Disease, Autosomal Recessive Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) Polymicrogyria Overview Prader-Willi Syndrome Primary Ciliary Dyskinesia Primary Congenital Glaucoma Primary Hyperoxaluria Type 2 Progressive Myoclonus Epilepsy, Lafora Type Prothrombin Thrombophilia Pseudoachondroplasia Pseudoxanthoma Elasticum Pulmonary Fibrosis, Familial Pyridoxine-Dependent Seizures Pyruvate Carboxylase Deficiency ROR2-Related Robinow Syndrome Rapid-Onset Dystonia Parkinsonism Red-Green Color Vision Defects Refsum Disease Renal Coloboma Syndrome Retinitis Pigmentosa Overview Retinoblastoma Rhizomelic Chondrodysplasia Punctata Type 1 Roberts Syndrome Romano-Ward Syndrome Rothmund-Thomson Syndrome Rubinstein-Taybi Syndrome Russell-Silver Syndrome SALL4-Related Disorders SCN1A-Related Seizure Disorders SCN9A-Related Inherited Erythromelalgia SHOX-Related Haploinsufficiency Disorders SOST-Related Sclerosing Bone Dysplasias SOX2-Related Eye Disorders SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SYNE1-Related Autosomal Recessive Cerebellar Ataxia Saethre-Chotzen Syndrome Schimke Immunoosseous Dysplasia Shprintzen-Goldberg Syndrome Shwachman-Diamond Syndrome Sialuria Sickle Cell Disease Simpson-Golabi-Behmel Syndrome Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome Sotos Syndrome Spastic Paraplegia 7 Spastic Paraplegia 8 Spastic Paraplegia Type 11 Spastic Paraplegia Type 4 Spinal Muscular Atrophy Spinal Muscular Atrophy, X-Linked Infantile Spinal and Bulbar Muscular Atrophy Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 3 Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 8 Spinocerebellar Ataxia Type10 Spinocerebellar Ataxia Type11 Spinocerebellar Ataxia Type12 Spinocerebellar Ataxia Type13 Spinocerebellar Ataxia Type14 Spinocerebellar Ataxia Type15 Spinocerebellar Ataxia Type17 Spinocerebellar Ataxia Type20 Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda, X-Linked Stickler Syndrome Succinic Semialdehyde Dehydrogenase Deficiency TARDBP-Related Amyotrophic Lateral Sclerosis TFR2-Related Hereditary Hemochromatosis Tetra-Amelia Syndrome Thanatophoric Dysplasia Thiamine-Responsive Megaloblastic Anemia Syndrome Thoracic Aortic Aneurysms and Aortic Dissections Timothy Syndrome Townes-Brocks Syndrome Transthyretin Amyloidosis Treacher Collins Syndrome Trimethylaminuria Troyer Syndrome Tuberous Sclerosis Complex Tyrosine Hydroxylase Deficiency Tyrosinemia Type I UMOD-Related Kidney Disease Udd Distal Myopathy Unverricht-Lundborg Disease Urea Cycle Disorders Overview Usher Syndrome Type I Usher Syndrome Type II VCAN-Related Vitreoretinopathy VLDLR-Associated Cerebellar Hypoplasia Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Von Hippel-Lindau Syndrome WAS-Related Disorders WFS1-Related Disorders Waardenburg Syndrome Type 1 Weill-Marchesani Syndrome Werner Syndrome Williams Syndrome Wilms Tumor Overview Wilson Disease Wolf-Hirschhorn Syndrome X-Linked Congenital Stationary Night Blindness X-Linked Dystonia-Parkinsonism Syndrome X-Linked Hyper IgM Syndrome X-Linked Juvenile Retinoschisis X-Linked Opitz G/BBB Syndrome X-Linked Severe Combined Immunodeficiency X-Linked Sideroblastic Anemia and Ataxia Xeroderma Pigmentosum Y Chromosome Infertility von Willebrand Disease

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