Copyright © 1993-2012, University of Washington, Seattle. All rights reserved.
- 1p36 Deletion Syndrome
- 1q21.1 Microdeletion
- 15q13.3 Microdeletion
- 15q24 Microdeletion Syndrome
- 16p11.2 Microdeletion
- 17q21.31 Microdeletion Syndrome
- 2q37 Deletion Syndrome
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- 22q11.2 Deletion Syndrome
- 22q11.2 Duplication
- 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
- 9q22.3 Microdeletion
- ADAMTSL4-Related Eye Disorders
- ALK-Related Neuroblastoma Susceptibility
- 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
- Adenosine Deaminase Deficiency
- Adult Polyglucosan Body Disease
- Aicardi Syndrome
- Aicardi-Goutières Syndrome
- Alagille Syndrome
- Alexander Disease
- Alkaptonuria
- Alpha-Mannosidosis
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
- Alpha-Thalassemia
- Alpha1-Antitrypsin Deficiency
- Alström Syndrome
- Alzheimer Disease Overview
- Amish Lethal Microcephaly
- Amyotrophic Lateral Sclerosis Overview
- Andersen-Tawil Syndrome
- Androgen Insensitivity Syndrome
- Angelman Syndrome
- Aniridia
- Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
- Anophthalmia / Microphthalmia Overview
- Arginase Deficiency
- Argininosuccinate Lyase Deficiency
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- Arts Syndrome
- Arylsulfatase A Deficiency
- 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 Spectrum Disorders
- Autoimmune Lymphoproliferative Syndrome
- Autosomal Dominant Hyper IgE Syndrome
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
- Autosomal Dominant Partial Epilepsy with Auditory Features
- Autosomal Recessive Congenital Ichthyosis
- BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
- BSCL2-Related Neurologic Disorders/Seipinopathy
- Baller-Gerold Syndrome
- Bardet-Biedl Syndrome
- Beckwith-Wiedemann Syndrome
- Benign Familial Neonatal Seizures
- Berardinelli-Seip Congenital Lipodystrophy
- Best Vitelliform Macular Dystrophy
- Beta-Thalassemia
- Bietti Crystalline Dystrophy
- Biotinidase Deficiency
- Birt-Hogg-Dubé Syndrome
- Blepharophimosis, Ptosis, and Epicanthus Inversus
- Bloom's Syndrome
- Branchiooculofacial Syndrome
- Branchiootorenal Spectrum Disorders
- Brugada Syndrome
- CADASIL
- CARASIL
- CATSPER-Related Male Infertility
- CDC73-Related Disorders
- CFTR-Related Disorders
- CHARGE Syndrome
- CHMP2B-Related Frontotemporal Dementia
- CHST3-Related Skeletal Dysplasia
- 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
- Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
- 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 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 Hypomyelination/Vanishing White Matter
- Chondrodysplasia Punctata 1, X-Linked
- Chondrodysplasia Punctata 2, X-Linked
- Chorea-Acanthocytosis
- Choroideremia
- Citrin Deficiency
- Citrullinemia Type I
- Cleidocranial Dysplasia
- Cockayne Syndrome
- Coffin-Lowry Syndrome
- Cohen Syndrome
- Cold-Induced Sweating Syndrome including Crisponi Syndrome
- Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)
- Collagen Type VI-Related Disorders
- Common Variable Immune Deficiency Overview
- Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- Congenital Central Hypoventilation Syndrome
- Congenital Contractural Arachnodactyly
- Congenital Diaphragmatic Hernia Overview
- Congenital Disorders of Glycosylation Overview
- Congenital Dyserythropoietic Anemia Type I
- Congenital Fiber-Type Disproportion
- Congenital Fibrosis of the Extraocular Muscles
- Congenital Hepatic Fibrosis Overview
- Congenital Muscular Dystrophy Overview
- Congenital Myasthenic Syndromes
- Congenital Stromal Corneal Dystrophy
- Cornelia de Lange Syndrome
- Costello Syndrome
- Craniofacial Microsomia Overview
- Craniometaphyseal Dysplasia, Autosomal Dominant
- Creatine Deficiency Syndromes
- Cystinosis
- Cytochrome P450 Oxidoreductase Deficiency
- DCX-Related Disorders
- DFNA2 Nonsyndromic Hearing Loss
- DFNX1 Nonsyndromic Hearing Loss and Deafness
- DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
- DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
- DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
- 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
- Dysferlinopathy
- Dyskeratosis Congenita
- Dystonia Overview
- Dystrophic Epidermolysis Bullosa
- Dystrophinopathies
- EFEMP2-Related Cutis Laxa
- ELANE-Related Neutropenia
- Early-Onset Familial Alzheimer Disease
- Early-Onset Primary Dystonia (DYT1)
- Ehlers-Danlos Syndrome, Classic Type
- Ehlers-Danlos Syndrome, Hypermobility Type
- Ehlers-Danlos Syndrome, Kyphoscoliotic Form
- Ehlers-Danlos Syndrome Type IV
- Emanuel Syndrome
- Emery-Dreifuss Muscular Dystrophy
- Enlarged Parietal Foramina/Cranium Bifidum
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa with Pyloric Atresia
- Epimerase Deficiency Galactosemia
- Episodic Ataxia Type 1
- Episodic Ataxia Type 2
- Esophageal Atresia/Tracheoesophageal Fistula Overview
- FBLN5-Related Cutis Laxa
- FGFR-Related Craniosynostosis Syndromes
- FLNB-Related Disorders
- FMR1-Related Disorders
- FRMD7-Related Infantile Nystagmus
- Fabry Disease
- Facioscapulohumeral Muscular Dystrophy
- Factor V Leiden Thrombophilia
- Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA
- Familial Dysautonomia
- Familial Exudative Vitreoretinopathy, Autosomal Dominant
- Familial Hemiplegic Migraine
- Familial Hyperinsulinism
- Familial Hypertrophic Cardiomyopathy Overview
- Familial Idiopathic Basal Ganglia Calcification
- Familial Juvenile Hyperuricemic Nephropathy Type 2
- Familial Lipoprotein Lipase Deficiency
- Familial Mediterranean Fever
- Familial Mosaic Monosomy 7 Syndrome
- Familial Paroxysmal Kinesigenic Dyskinesia
- Familial Paroxysmal Nonkinesigenic Dyskinesia
- Familial Transthyretin Amyloidosis
- Fanconi Anemia
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- Feingold Syndrome
- Focal Dermal Hypoplasia
- Free Sialic Acid Storage Disorders
- Friedreich Ataxia
- Fryns Syndrome
- Fukuyama Congenital Muscular Dystrophy
- Fumarate Hydratase Deficiency
- GARS-Associated Axonal Neuropathy
- GATA1-Related X-Linked Cytopenia
- GRN-Related Frontotemporal Dementia
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
- Galactosemia
- Gaucher Disease
- Geleophysic Dysplasia
- 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 III
- 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 Ataxia Overview
- 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 Paraganglioma-Pheochromocytoma Syndromes
- Hereditary Sensory and Autonomic Neuropathy IV
- Hereditary Sensory and Autonomic Neuropathy Type II
- Hereditary Sensory Neuropathy Type IA
- Hereditary Spastic Paraplegia Overview
- Heritable Pulmonary Arterial Hypertension
- 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
- Hydroxymethylbilane Synthase Deficiency
- Hyperekplexia
- Hyperkalemic Periodic Paralysis Type 1
- Hypochondroplasia
- 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-Onset Spinocerebellar Ataxia
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview
- Jervell and Lange-Nielsen Syndrome
- Joubert Syndrome and Related Disorders
- Junctional Epidermolysis Bullosa
- Juvenile Hereditary Hemochromatosis
- Juvenile Polyposis Syndrome
- Kabuki Syndrome
- Kallmann Syndrome
- Kleefstra 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
- Legius Syndrome
- Lenz Microphthalmia Syndrome
- Lesch-Nyhan Syndrome
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Li-Fraumeni Syndrome
- Limb-Girdle Muscular Dystrophy Overview
- Loeys-Dietz Syndrome
- Low γ-GT Familial Intrahepatic Cholestasis
- Lowe Syndrome
- Lymphedema-Distichiasis Syndrome
- Lymphoproliferative Disease, X-Linked
- Lynch Syndrome
- Lysinuric Protein Intolerance
- MAPT-Related Disorders
- MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
- MECP2 Duplication Syndrome
- MECP2-Related Disorders
- MED12-Related Disorders
- MELAS
- MERRF
- MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
- MYH9-Related Disorders
- Majeed Syndrome
- Malignant Hyperthermia Susceptibility
- Manitoba Oculotrichoanal Syndrome
- Maple Syrup Urine Disease
- Marfan Syndrome
- Marinesco-Sjögren 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 Defects 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 III Gamma
- 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
- NDP-Related Retinopathies
- NSDHL-Related Disorders
- Nail-Patella Syndrome
- Nemaline Myopathy
- Nephrogenic Diabetes Insipidus
- Neuroferritinopathy
- Neurofibromatosis 1
- Neurofibromatosis 2
- Neuronal Ceroid-Lipofuscinoses
- Nevoid Basal Cell Carcinoma Syndrome
- Niemann-Pick Disease Type C
- Nijmegen Breakage Syndrome
- 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
- Osteogenesis Imperfecta
- Otopalatodigital Spectrum Disorders
- PINK1 Type of Young-Onset Parkinson Disease
- PLA2G6-Associated Neurodegeneration
- PLP1-Related Disorders
- PMM2-CDG (CDG-Ia)
- POLG-Related Disorders
- PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
- PROP1-Related Combined Pituitary Hormone Deficiency
- PRSS1-Related Hereditary Pancreatitis
- PTEN Hamartoma Tumor Syndrome (PHTS)
- Pachyonychia Congenita
- Pallister-Hall Syndrome
- Pantothenate Kinase-Associated Neurodegeneration
- Parkin Type of Juvenile Parkinson Disease
- Parkinson Disease Overview
- Pendred Syndrome/DFNB4
- Permanent Neonatal Diabetes Mellitus
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Perry Syndrome
- Peters Plus Syndrome
- Peutz-Jeghers Syndrome
- Phelan-McDermid Syndrome
- Phenylalanine Hydroxylase Deficiency
- Phosphoribosylpyrophosphate Synthetase Superactivity
- Phosphorylase Kinase Deficiency
- Polycystic Kidney Disease, Autosomal Dominant
- Polycystic Kidney Disease, Autosomal Recessive
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
- Polymicrogyria Overview
- Pontocerebellar Hypoplasia Type 2 and Type 4
- Prader-Willi Syndrome
- Primary Autosomal Recessive Microcephaly
- Primary Ciliary Dyskinesia
- Primary Congenital Glaucoma
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 2
- Progressive Myoclonus Epilepsy, Lafora Type
- Propionic Acidemia
- Prothrombin-Related Thrombophilia
- Pseudoachondroplasia
- Pseudohypoaldosteronism Type II
- Pseudoxanthoma Elasticum
- Pulmonary Fibrosis, Familial
- Pyridoxine-Dependent Epilepsy
- Pyruvate Carboxylase Deficiency
- RASA1-Related Disorders
- 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
- Salih Myopathy
- Schimke Immunoosseous Dysplasia
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
- Shprintzen-Goldberg Syndrome
- Shwachman-Diamond Syndrome
- Sialuria
- Sickle Cell Disease
- Simpson-Golabi-Behmel Syndrome Type 1
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome
- Sotos Syndrome
- Spastic Paraplegia 3A
- Spastic Paraplegia 7
- Spastic Paraplegia 8
- Spastic Paraplegia Type 4
- Spastic Paraplegia Type 11
- Spinal and Bulbar Muscular Atrophy
- Spinal Muscular Atrophy
- Spinal Muscular Atrophy, X-Linked Infantile
- 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 Type 10
- Spinocerebellar Ataxia Type 11
- Spinocerebellar Ataxia Type 12
- Spinocerebellar Ataxia Type 13
- Spinocerebellar Ataxia Type 14
- Spinocerebellar Ataxia Type 15
- Spinocerebellar Ataxia Type 17
- Spinocerebellar Ataxia Type 20
- Spinocerebellar Ataxia Type 28
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
- Spondylocostal Dysostosis, Autosomal Recessive
- Spondylothoracic Dysostosis
- Stickler Syndrome
- Succinic Semialdehyde Dehydrogenase Deficiency
- Systemic Primary Carnitine Deficiency
- TARDBP-Related Amyotrophic Lateral Sclerosis
- TFR2-Related Hereditary Hemochromatosis
- Tetra-Amelia Syndrome
- Thanatophoric Dysplasia
- The Organic Acidemias: An Overview
- Thiamine-Responsive Megaloblastic Anemia Syndrome
- Thoracic Aortic Aneurysms and Aortic Dissections
- Thrombocytopenia Absent Radius Syndrome
- Timothy Syndrome
- Tourette Disorder Overview
- Townes-Brocks Syndrome
- Treacher Collins Syndrome
- Trimethylaminuria
- Troyer Syndrome
- Tuberous Sclerosis Complex
- Tyrosine Hydroxylase Deficiency
- Tyrosinemia Type 1
- UMOD-Associated Kidney Disease
- Udd Distal Myopathy
- Unverricht-Lundborg Disease
- Urea Cycle Disorders Overview
- Usher Syndrome Type I
- Usher Syndrome Type II
- von Willebrand Disease
- 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 I
- Weill-Marchesani Syndrome
- Werner Syndrome
- Williams Syndrome
- Wilms Tumor Overview
- Wilson Disease
- Wolf-Hirschhorn Syndrome
- X-Linked Adrenal Hypoplasia Congenita
- X-Linked Adrenoleukodystrophy
- X-Linked Agammaglobulinemia
- X-Linked Centronuclear Myopathy
- X-Linked Congenital Stationary Night Blindness
- X-Linked Dystonia-Parkinsonism
- X-Linked Hyper IgM Syndrome
- X-Linked Hypophosphatemia
- X-Linked Juvenile Retinoschisis
- X-Linked Opitz G/BBB Syndrome
- X-Linked Periventricular Heterotopia
- X-Linked Severe Combined Immunodeficiency
- X-Linked Sideroblastic Anemia and Ataxia
- X-Linked Spondyloepiphyseal Dysplasia Tarda
- Xeroderma Pigmentosum
- Y Chromosome Infertility
- ZAP70-Related Severe Combined Immunodeficiency
- Glossary Instructions
- Illustrated Glossary
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
Bookshelf ID: NBK5190
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- 1p36 Deletion Syndrome
- 1q21.1 Microdeletion
- 15q13.3 Microdeletion
- 15q24 Microdeletion Syndrome
- 16p11.2 Microdeletion
- 17q21.31 Microdeletion Syndrome
- 2q37 Deletion Syndrome
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- 22q11.2 Deletion Syndrome
- 22q11.2 Duplication
- 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
- 9q22.3 Microdeletion
- ADAMTSL4-Related Eye Disorders
- ALK-Related Neuroblastoma Susceptibility
- 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
- Adenosine Deaminase Deficiency
- Adult Polyglucosan Body Disease
- Aicardi Syndrome
- Aicardi-Goutières Syndrome
- Alagille Syndrome
- Alexander Disease
- Alkaptonuria
- Alpha-Mannosidosis
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
- Alpha-Thalassemia
- Alpha1-Antitrypsin Deficiency
- Alström Syndrome
- Alzheimer Disease Overview
- Amish Lethal Microcephaly
- Amyotrophic Lateral Sclerosis Overview
- Andersen-Tawil Syndrome
- Androgen Insensitivity Syndrome
- Angelman Syndrome
- Aniridia
- Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
- Anophthalmia / Microphthalmia Overview
- Arginase Deficiency
- Argininosuccinate Lyase Deficiency
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- Arts Syndrome
- Arylsulfatase A Deficiency
- 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 Spectrum Disorders
- Autoimmune Lymphoproliferative Syndrome
- Autosomal Dominant Hyper IgE Syndrome
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
- Autosomal Dominant Partial Epilepsy with Auditory Features
- Autosomal Recessive Congenital Ichthyosis
- BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
- BSCL2-Related Neurologic Disorders/Seipinopathy
- Baller-Gerold Syndrome
- Bardet-Biedl Syndrome
- Beckwith-Wiedemann Syndrome
- Benign Familial Neonatal Seizures
- Berardinelli-Seip Congenital Lipodystrophy
- Best Vitelliform Macular Dystrophy
- Beta-Thalassemia
- Bietti Crystalline Dystrophy
- Biotinidase Deficiency
- Birt-Hogg-Dubé Syndrome
- Blepharophimosis, Ptosis, and Epicanthus Inversus
- Bloom's Syndrome
- Branchiooculofacial Syndrome
- Branchiootorenal Spectrum Disorders
- Brugada Syndrome
- CADASIL
- CARASIL
- CATSPER-Related Male Infertility
- CDC73-Related Disorders
- CFTR-Related Disorders
- CHARGE Syndrome
- CHMP2B-Related Frontotemporal Dementia
- CHST3-Related Skeletal Dysplasia
- 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
- Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
- 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 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 Hypomyelination/Vanishing White Matter
- Chondrodysplasia Punctata 1, X-Linked
- Chondrodysplasia Punctata 2, X-Linked
- Chorea-Acanthocytosis
- Choroideremia
- Citrin Deficiency
- Citrullinemia Type I
- Cleidocranial Dysplasia
- Cockayne Syndrome
- Coffin-Lowry Syndrome
- Cohen Syndrome
- Cold-Induced Sweating Syndrome including Crisponi Syndrome
- Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)
- Collagen Type VI-Related Disorders
- Common Variable Immune Deficiency Overview
- Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- Congenital Central Hypoventilation Syndrome
- Congenital Contractural Arachnodactyly
- Congenital Diaphragmatic Hernia Overview
- Congenital Disorders of Glycosylation Overview
- Congenital Dyserythropoietic Anemia Type I
- Congenital Fiber-Type Disproportion
- Congenital Fibrosis of the Extraocular Muscles
- Congenital Hepatic Fibrosis Overview
- Congenital Muscular Dystrophy Overview
- Congenital Myasthenic Syndromes
- Congenital Stromal Corneal Dystrophy
- Cornelia de Lange Syndrome
- Costello Syndrome
- Craniofacial Microsomia Overview
- Craniometaphyseal Dysplasia, Autosomal Dominant
- Creatine Deficiency Syndromes
- Cystinosis
- Cytochrome P450 Oxidoreductase Deficiency
- DCX-Related Disorders
- DFNA2 Nonsyndromic Hearing Loss
- DFNX1 Nonsyndromic Hearing Loss and Deafness
- DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
- DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
- DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
- 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
- Dysferlinopathy
- Dyskeratosis Congenita
- Dystonia Overview
- Dystrophic Epidermolysis Bullosa
- Dystrophinopathies
- EFEMP2-Related Cutis Laxa
- ELANE-Related Neutropenia
- Early-Onset Familial Alzheimer Disease
- Early-Onset Primary Dystonia (DYT1)
- Ehlers-Danlos Syndrome, Classic Type
- Ehlers-Danlos Syndrome, Hypermobility Type
- Ehlers-Danlos Syndrome, Kyphoscoliotic Form
- Ehlers-Danlos Syndrome Type IV
- Emanuel Syndrome
- Emery-Dreifuss Muscular Dystrophy
- Enlarged Parietal Foramina/Cranium Bifidum
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa with Pyloric Atresia
- Epimerase Deficiency Galactosemia
- Episodic Ataxia Type 1
- Episodic Ataxia Type 2
- Esophageal Atresia/Tracheoesophageal Fistula Overview
- FBLN5-Related Cutis Laxa
- FGFR-Related Craniosynostosis Syndromes
- FLNB-Related Disorders
- FMR1-Related Disorders
- FRMD7-Related Infantile Nystagmus
- Fabry Disease
- Facioscapulohumeral Muscular Dystrophy
- Factor V Leiden Thrombophilia
- Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA
- Familial Dysautonomia
- Familial Exudative Vitreoretinopathy, Autosomal Dominant
- Familial Hemiplegic Migraine
- Familial Hyperinsulinism
- Familial Hypertrophic Cardiomyopathy Overview
- Familial Idiopathic Basal Ganglia Calcification
- Familial Juvenile Hyperuricemic Nephropathy Type 2
- Familial Lipoprotein Lipase Deficiency
- Familial Mediterranean Fever
- Familial Mosaic Monosomy 7 Syndrome
- Familial Paroxysmal Kinesigenic Dyskinesia
- Familial Paroxysmal Nonkinesigenic Dyskinesia
- Familial Transthyretin Amyloidosis
- Fanconi Anemia
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- Feingold Syndrome
- Focal Dermal Hypoplasia
- Free Sialic Acid Storage Disorders
- Friedreich Ataxia
- Fryns Syndrome
- Fukuyama Congenital Muscular Dystrophy
- Fumarate Hydratase Deficiency
- GARS-Associated Axonal Neuropathy
- GATA1-Related X-Linked Cytopenia
- GRN-Related Frontotemporal Dementia
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
- Galactosemia
- Gaucher Disease
- Geleophysic Dysplasia
- 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 III
- 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 Ataxia Overview
- 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 Paraganglioma-Pheochromocytoma Syndromes
- Hereditary Sensory and Autonomic Neuropathy IV
- Hereditary Sensory and Autonomic Neuropathy Type II
- Hereditary Sensory Neuropathy Type IA
- Hereditary Spastic Paraplegia Overview
- Heritable Pulmonary Arterial Hypertension
- 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
- Hydroxymethylbilane Synthase Deficiency
- Hyperekplexia
- Hyperkalemic Periodic Paralysis Type 1
- Hypochondroplasia
- 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-Onset Spinocerebellar Ataxia
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview
- Jervell and Lange-Nielsen Syndrome
- Joubert Syndrome and Related Disorders
- Junctional Epidermolysis Bullosa
- Juvenile Hereditary Hemochromatosis
- Juvenile Polyposis Syndrome
- Kabuki Syndrome
- Kallmann Syndrome
- Kleefstra 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
- Legius Syndrome
- Lenz Microphthalmia Syndrome
- Lesch-Nyhan Syndrome
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Li-Fraumeni Syndrome
- Limb-Girdle Muscular Dystrophy Overview
- Loeys-Dietz Syndrome
- Low γ-GT Familial Intrahepatic Cholestasis
- Lowe Syndrome
- Lymphedema-Distichiasis Syndrome
- Lymphoproliferative Disease, X-Linked
- Lynch Syndrome
- Lysinuric Protein Intolerance
- MAPT-Related Disorders
- MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
- MECP2 Duplication Syndrome
- MECP2-Related Disorders
- MED12-Related Disorders
- MELAS
- MERRF
- MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
- MYH9-Related Disorders
- Majeed Syndrome
- Malignant Hyperthermia Susceptibility
- Manitoba Oculotrichoanal Syndrome
- Maple Syrup Urine Disease
- Marfan Syndrome
- Marinesco-Sjögren 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 Defects 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 III Gamma
- 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
- NDP-Related Retinopathies
- NSDHL-Related Disorders
- Nail-Patella Syndrome
- Nemaline Myopathy
- Nephrogenic Diabetes Insipidus
- Neuroferritinopathy
- Neurofibromatosis 1
- Neurofibromatosis 2
- Neuronal Ceroid-Lipofuscinoses
- Nevoid Basal Cell Carcinoma Syndrome
- Niemann-Pick Disease Type C
- Nijmegen Breakage Syndrome
- 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
- Osteogenesis Imperfecta
- Otopalatodigital Spectrum Disorders
- PINK1 Type of Young-Onset Parkinson Disease
- PLA2G6-Associated Neurodegeneration
- PLP1-Related Disorders
- PMM2-CDG (CDG-Ia)
- POLG-Related Disorders
- PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
- PROP1-Related Combined Pituitary Hormone Deficiency
- PRSS1-Related Hereditary Pancreatitis
- PTEN Hamartoma Tumor Syndrome (PHTS)
- Pachyonychia Congenita
- Pallister-Hall Syndrome
- Pantothenate Kinase-Associated Neurodegeneration
- Parkin Type of Juvenile Parkinson Disease
- Parkinson Disease Overview
- Pendred Syndrome/DFNB4
- Permanent Neonatal Diabetes Mellitus
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Perry Syndrome
- Peters Plus Syndrome
- Peutz-Jeghers Syndrome
- Phelan-McDermid Syndrome
- Phenylalanine Hydroxylase Deficiency
- Phosphoribosylpyrophosphate Synthetase Superactivity
- Phosphorylase Kinase Deficiency
- Polycystic Kidney Disease, Autosomal Dominant
- Polycystic Kidney Disease, Autosomal Recessive
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
- Polymicrogyria Overview
- Pontocerebellar Hypoplasia Type 2 and Type 4
- Prader-Willi Syndrome
- Primary Autosomal Recessive Microcephaly
- Primary Ciliary Dyskinesia
- Primary Congenital Glaucoma
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 2
- Progressive Myoclonus Epilepsy, Lafora Type
- Propionic Acidemia
- Prothrombin-Related Thrombophilia
- Pseudoachondroplasia
- Pseudohypoaldosteronism Type II
- Pseudoxanthoma Elasticum
- Pulmonary Fibrosis, Familial
- Pyridoxine-Dependent Epilepsy
- Pyruvate Carboxylase Deficiency
- RASA1-Related Disorders
- 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
- Salih Myopathy
- Schimke Immunoosseous Dysplasia
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
- Shprintzen-Goldberg Syndrome
- Shwachman-Diamond Syndrome
- Sialuria
- Sickle Cell Disease
- Simpson-Golabi-Behmel Syndrome Type 1
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome
- Sotos Syndrome
- Spastic Paraplegia 3A
- Spastic Paraplegia 7
- Spastic Paraplegia 8
- Spastic Paraplegia Type 4
- Spastic Paraplegia Type 11
- Spinal and Bulbar Muscular Atrophy
- Spinal Muscular Atrophy
- Spinal Muscular Atrophy, X-Linked Infantile
- 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 Type 10
- Spinocerebellar Ataxia Type 11
- Spinocerebellar Ataxia Type 12
- Spinocerebellar Ataxia Type 13
- Spinocerebellar Ataxia Type 14
- Spinocerebellar Ataxia Type 15
- Spinocerebellar Ataxia Type 17
- Spinocerebellar Ataxia Type 20
- Spinocerebellar Ataxia Type 28
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
- Spondylocostal Dysostosis, Autosomal Recessive
- Spondylothoracic Dysostosis
- Stickler Syndrome
- Succinic Semialdehyde Dehydrogenase Deficiency
- Systemic Primary Carnitine Deficiency
- TARDBP-Related Amyotrophic Lateral Sclerosis
- TFR2-Related Hereditary Hemochromatosis
- Tetra-Amelia Syndrome
- Thanatophoric Dysplasia
- The Organic Acidemias: An Overview
- Thiamine-Responsive Megaloblastic Anemia Syndrome
- Thoracic Aortic Aneurysms and Aortic Dissections
- Thrombocytopenia Absent Radius Syndrome
- Timothy Syndrome
- Tourette Disorder Overview
- Townes-Brocks Syndrome
- Treacher Collins Syndrome
- Trimethylaminuria
- Troyer Syndrome
- Tuberous Sclerosis Complex
- Tyrosine Hydroxylase Deficiency
- Tyrosinemia Type 1
- UMOD-Associated Kidney Disease
- Udd Distal Myopathy
- Unverricht-Lundborg Disease
- Urea Cycle Disorders Overview
- Usher Syndrome Type I
- Usher Syndrome Type II
- von Willebrand Disease
- 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 I
- Weill-Marchesani Syndrome
- Werner Syndrome
- Williams Syndrome
- Wilms Tumor Overview
- Wilson Disease
- Wolf-Hirschhorn Syndrome
- X-Linked Adrenal Hypoplasia Congenita
- X-Linked Adrenoleukodystrophy
- X-Linked Agammaglobulinemia
- X-Linked Centronuclear Myopathy
- X-Linked Congenital Stationary Night Blindness
- X-Linked Dystonia-Parkinsonism
- X-Linked Hyper IgM Syndrome
- X-Linked Hypophosphatemia
- X-Linked Juvenile Retinoschisis
- X-Linked Opitz G/BBB Syndrome
- X-Linked Periventricular Heterotopia
- X-Linked Severe Combined Immunodeficiency
- X-Linked Sideroblastic Anemia and Ataxia
- X-Linked Spondyloepiphyseal Dysplasia Tarda
- Xeroderma Pigmentosum
- Y Chromosome Infertility
- ZAP70-Related Severe Combined Immunodeficiency
- Glossary Instructions
- Illustrated Glossary
GeneReviews™ [Internet].
Pagon RA, Bird TD, Dolan CR, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-.
Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Glossary Instructions.
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Glossary Instructions - GeneReviews™
Glossary Instructions - GeneReviews™Bookshelf
-
Primary Congenital Glaucoma - GeneReviews™
Primary Congenital Glaucoma - GeneReviews™Bookshelf
-
Geleophysic Dysplasia - GeneReviews™
Geleophysic Dysplasia - GeneReviews™Bookshelf
-
SCN1A-Related Seizure Disorders - GeneReviews™
SCN1A-Related Seizure Disorders - GeneReviews™Bookshelf
-
Gaucher Disease - GeneReviews™
Gaucher Disease - GeneReviews™Bookshelf
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