GeneReviews: Diseases and Overviews

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Index of Review Titles

The following is a list of titles in the GeneReviews database. If your search term is not listed below, try searching for your term.

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1p36 Deletion Syndrome

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

22q11.2 Deletion Syndrome

22q13.3 Deletion Syndrome

2q37 Deletion Syndrome

3-M Syndrome

3-Methylglutaconic Aciduria Type 3

46,XX Testicular Disorder of Sex Development

ALS2-Related Disorders

APC-Associated Polyposis Conditions

ARSACS

Aceruloplasminemia

Achondrogenesis Type 1B

Achondroplasia

Achromatopsia

Acid Sphingomyelinase Deficiency

Acute Intermittent Porphyria

Adenosine Deaminase Deficiency

Adrenal Hypoplasia Congenita, X-Linked

Adrenoleukodystrophy, X-Linked

Agammaglobulinemia, X-Linked

Aicardi Syndrome

Aicardi-Goutieres Syndrome

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

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

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

CFTR-Related Disorders

CHARGE Syndrome

CHMP2B-Related Frontotemporal Dementia

CLCN7-Related Osteopetrosis

Calpainopathy

Camurati-Engelmann Disease

Canavan Disease

Cardiofaciocutaneous Syndrome

Carney Complex

Carnitine Palmitoyltransferase 1A Deficiency

Carnitine Palmitoyltransferase II Deficiency

Catecholaminergic Polymorphic Ventricular Tachycardia

Caveolinopathies

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

Cherubism

Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter

Chorea-Acanthocytosis

Choroideremia

Citrin Deficiency

Citrullinemia Type I

Cleidocranial Dysplasia

Cockayne Syndrome

Coffin-Lowry Syndrome

Cohen Syndrome

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 Ia

Congenital Disorders of Glycosylation Overview

Congenital Fiber-Type Disproportion

Congenital Fibrosis of the Extraocular Muscles

Congenital Ichthyosis, Autosomal Recessive

Congenital Muscular Dystrophy Overview

Congenital Myasthenic Syndromes

Cornelia de Lange Syndrome

Costello Syndrome

Craniometaphyseal Dysplasia

Craniosynostosis Syndromes, FGFR-Related

Cystinosis

Cytochrome P450 Oxidoreductase Deficiency

DCX-Related Disorders

DFNA2 Nonsyndromic Hearing Loss

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

Diastrophic Dysplasia

Dilated Cardiomyopathy Overview

Disorders of Intracellular Cobalamin Metabolism

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

FMR1-Related Disorders

Fabry Disease

Facioscapulohumeral Muscular Dystrophy

Factor V Leiden Thrombophilia

Familial Dysautonomia

Familial Exudative Vitreoretinopathy, Autosomal Dominant

Familial Hemiplegic Migraine

Familial Hyperinsulinism (FHI)

Familial Mediterranean Fever

Familial Paroxysmal Kinesigenic Dyskinesia

Familial Paroxysmal Nonkinesigenic Dyskinesia

Fanconi Anemia

Free Sialic Acid Storage Disorders

Friedreich Ataxia

Frontotemporal Dementia with Parkinsonism-17

Fryns Syndrome

Fukuyama Congenital Muscular Dystrophy

Fumarase Deficiency

GATA1-Related Cytopenia

GRN-Related Frontotemporal Dementia

GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Galactosemia

Gaucher Disease

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

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 Hemorrhagic Telangiectasia

Hereditary Leiomyomatosis and Renal Cell Cancer

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Hereditary Neuralgic Amyotrophy

Hereditary Neuropathy with Liability to Pressure Palsies

Hereditary Non-Polyposis Colon Cancer

Hereditary Sensory Neuropathy Type I

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

Hypophosphatasia

IPEX Syndrome

IRF6-Related Disorders

Inclusion Body Myopathy 2

Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

Incontinentia Pigmenti

Jervell and Lange-Nielsen Syndrome

Joubert Syndrome

Junctional Epidermolysis Bullosa

Juvenile Hereditary Hemochromatosis

Juvenile Polyposis Syndrome

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

MELAS

MERRF

Malignant Hyperthermia Susceptibility

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

Milroy Disease

Mitochondrial DNA Deletion Syndromes

Mitochondrial DNA-Associated Leigh Syndrome and NARP

Mitochondrial Disorders Overview

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mowat-Wilson Syndrome

Mucolipidosis IV

Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type II

Muenke Syndrome

Multiminicore Disease

Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 2

Multiple Epiphyseal Dysplasia, Dominant

Multiple Epiphyseal Dysplasia, Recessive

Multiple Exostoses, Hereditary

Multiple Sclerosis Overview

Myoclonus-Dystonia

Myofibrillar Myopathy

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

PLOSL

PLP1-Related Disorders

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

Polycystic Kidney Disease, Autosomal Dominant

Polycystic Kidney Disease, Autosomal Recessive

Polymicrogyria Overview

Prader-Willi Syndrome

Primary Ciliary Dyskinesia

Primary Congenital Glaucoma

Prion Diseases

Progressive Myoclonus Epilepsy, Lafora Type

Prothrombin Thrombophilia

Pseudoachondroplasia

Pseudoxanthoma Elasticum

Pulmonary Fibrosis, Familial

Pyridoxine-Dependent Seizures

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

SOST-Related Sclerosing Bone Dysplasias

SOX2-Related Eye Disorders

Saethre-Chotzen Syndrome

Schimke Immunoosseous Dysplasia

Shprintzen-Goldberg Syndrome

Sialuria

Sickle Cell Disease

Simpson-Golabi-Behmel Syndrome

Smith-Lemli-Opitz Syndrome

Smith-Magenis Syndrome

Sotos Syndrome

Spastic Paraplegia 7

Spastic Paraplegia Type 11

Spastic Paraplegia Type 4

Spinal Muscular Atrophy

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 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

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

Von Hippel-Lindau Syndrome

WAS-Related Disorders

Waardenburg Syndrome Type 1

Weill-Marchesani Syndrome

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

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