GeneReviews

Alphabetical list of GeneTests disorders for which a GeneReview is available.

1 2 3 4 9 A B C D E F G H I J K L M N O P R S T U V W X Y Z

 

1 

15q13.3 Microdeletion
15q24 Microdeletion Syndrome
16p11.2 Microdeletion
1p36 Deletion Syndrome
1q21.1 Deletion
 

2 

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
22q11.2 Deletion Syndrome
22q11.2 Duplication
2q37 Microdeletion Syndrome
 

3 

3-M Syndrome
3-Methylglutaconic Aciduria Type 3
 

4 

46,XX Testicular Disorder of Sex Development
46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
 

9 

9q22.3 Microdeletion
 

A 

Aceruloplasminemia
Achondrogenesis Type 1B
Achondroplasia
Achromatopsia
Acid Sphingomyelinase Deficiency
Acute Intermittent Porphyria
ADAMTSL4-Related Eye Disorders
Adenine Phosphoribosyltransferase Deficiency
Adenosine Deaminase Deficiency
Adrenoleukodystrophy, X-Linked
Adult Polyglucosan Body Disease
Aicardi Syndrome
Aicardi-Goutieres Syndrome
AIP-Related Familial Isolated Pituitary Adenomas
Alagille Syndrome
Alexander Disease
ALK-Related Neuroblastoma Susceptibility
Alkaptonuria
Alpha-Mannosidosis
Alpha-Thalassemia
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
Alpha1-Antitrypsin Deficiency
Alport Syndrome and Thin Basement Membrane Nephropathy
ALS2-Related Disorders
Alstrom Syndrome
Alzheimer Disease
Amish Lethal Microcephaly
Amyotrophic Lateral Sclerosis
Andersen-Tawil Syndrome
Androgen Insensitivity Syndrome
Angelman Syndrome
Aniridia
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
ANO5-Related Muscle Diseases
Anophthalmia/Microphthalmia
APC-Associated Polyposis Conditions
Arginase Deficiency
Argininosuccinate Lyase Deficiency
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
ARSACS
Arts Syndrome
Arylsulfatase A Deficiency
Ataxia with Oculomotor Apraxia 1
Ataxia with Oculomotor Apraxia 2
Ataxia with Vitamin E Deficiency
Ataxia-Telangiectasia
Atelosteogenesis Type II
ATP6V0A2-Related Cutis Laxa
ATP7A-Related Copper Transport Disorders
Atypical Hemolytic-Uremic Syndrome
Autism Spectrum Disorders
Autoimmune Lymphoproliferative Syndrome
Autosomal Dominant Hyper IgE Syndrome
Autosomal Recessive Congenital Ichthyosis
 

B 

Baller-Gerold Syndrome
Bardet-Biedl Syndrome
Beckwith-Wiedemann Syndrome
Berardinelli-Seip Congenital Lipodystrophy
Best Vitelliform Macular Dystrophy
Beta-Thalassemia
Bietti Crystalline Dystrophy
Biotin-Responsive Basal Ganglia Disease
Biotinidase Deficiency
Birt-Hogg-Dube Syndrome
Blepharophimosis, Ptosis, and Epicanthus Inversus
Bloom Syndrome
Branchiooculofacial Syndrome
Branchiootorenal Spectrum Disorders
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
Brugada Syndrome
BSCL2-Related Neurologic Disorders/Seipinopathy
 

C 

CADASIL
Caffey Disease
Calpainopathy
Campomelic Dysplasia
Camurati-Engelmann Disease
Canavan Disease
CARASIL
Cardiofaciocutaneous Syndrome
Carney Complex
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders
CASK-Related Disorders
Catecholaminergic Polymorphic Ventricular Tachycardia
CATSPER-Related Male Infertility
Caveolinopathies
CDC73-Related Disorders
Celiac Disease
Central Core Disease
Cerebrotendinous Xanthomatosis
CFTR-Related Disorders
Char Syndrome
Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy Type 2A
Charcot-Marie-Tooth Neuropathy Type 2C
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 Type 4H
Charcot-Marie-Tooth Neuropathy Type 4J
Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5
CHARGE Syndrome
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
Chronic Granulomatous Disease
CHST3-Related Skeletal Dysplasia
Citrin Deficiency
Citrullinemia Type I
CLCN7-Related Osteopetrosis
Cleidocranial Dysplasia
CLOVES Syndrome
Cockayne Syndrome
Coffin-Lowry Syndrome
Coffin-Siris Syndrome
Cohen Syndrome
COL1A1/2-Related Osteogenesis Imperfecta
COL4A1-Related Disorders
Cold-Induced Sweating Syndrome including Crisponi Syndrome
Collagen Type VI-Related Disorders
Common Variable Immune Deficiency
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Central Hypoventilation Syndrome
Congenital Contractural Arachnodactyly
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
Congenital Diaphragmatic Hernia
Congenital Disorders of Glycosylation
Congenital Dyserythropoietic Anemia Type I
Congenital Erythropoietic Porphyria
Congenital Fiber-Type Disproportion
Congenital Fibrosis of the Extraocular Muscles
Congenital Hepatic Fibrosis
Congenital Muscular Dystrophy
Congenital Myasthenic Syndromes
Congenital Stationary Night Blindness, X-Linked
Congenital Stromal Corneal Dystrophy
Cornelia de Lange Syndrome
Costello Syndrome
Cranioectodermal Dysplasia
Craniofacial Microsomia
Craniometaphyseal Dysplasia, Autosomal Dominant
Creatine Deficiency Syndromes
CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids
Cystinosis
Cytochrome P450 Oxidoreductase Deficiency
 

D 

DCX-Related Disorders
Deafness-Dystonia-Optic Neuronopathy Syndrome
Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Dent Disease
DFNA 2 Nonsyndromic Hearing Loss
DFNA 3 Nonsyndromic Hearing Loss and Deafness
DFNB 1 Nonsyndromic Hearing Loss and Deafness
DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
Diabetes Mellitus, 6q24-Related Transient Neonatal
Diamond-Blackfan Anemia
Diastrophic Dysplasia
Dihydrolipoamide Dehydrogenase E3 Deficiency
Dilated Cardiomyopathy
Disorders of Intracellular Cobalamin Metabolism
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
Donnai-Barrow Syndrome
Dopamine Beta-Hydroxylase Deficiency
DRPLA
Duane Syndrome
Dysferlinopathy
Dyskeratosis Congenita
Dystonia
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Dystrophic Epidermolysis Bullosa
Dystrophinopathies
 

E 

Early-Onset Familial Alzheimer Disease
Early-Onset Primary Dystonia (DYT1)
EFEMP2-Related Cutis Laxa
Ehlers-Danlos Syndrome Type IV
Ehlers-Danlos Syndrome, Classic Type
Ehlers-Danlos Syndrome, Hypermobility Type
Ehlers-Danlos Syndrome, Kyphoscoliotic Form
ELANE-Related Neutropenia
Emanuel Syndrome
Emery-Dreifuss Muscular Dystrophy
Enlarged Parietal Foramina
EPB42-Related Spherocytosis
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa with Pyloric Atresia
Epilepsy, Familial Temporal Lobe, 5
Epimerase Deficiency Galactosemia
Episodic Ataxia Type 1
Episodic Ataxia Type 2
Erythropoietic Protoporphyria, Autosomal Recessive
Esophageal Atresia/Tracheoesophageal Fistula
EZH2-Related Overgrowth
EZH2-Related Weaver Syndrome
 

F 

Fabry Disease
Facioscapulohumeral Muscular Dystrophy
Factor V Leiden Thrombophilia
Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA
Familial Cerebral Cavernous Malformation
Familial Dysautonomia
Familial Exudative Vitreoretinopathy, Autosomal Dominant
Familial Hemiplegic Migraine
Familial Hemophagocytic Lymphohistiocytosis
Familial Hypercholesterolemia
Familial Hyperinsulinism
Familial Hypertrophic Cardiomyopathy
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 Pulmonary Fibrosis
Familial Transthyretin Amyloidosis
Fanconi Anemia
Fatty Acid Hydroxylase-Associated Neurodegeneration
FBLN5-Related Cutis Laxa
Feingold Syndrome 1
FGFR-Related Craniosynostosis
FLNB-Related Disorders
Floating-Harbor Syndrome
FMR1-Related Disorders
Focal Dermal Hypoplasia
Free Sialic Acid Storage Disorders
Friedreich Ataxia
FRMD7-Related Infantile Nystagmus
Frontotemporal Dementia, Chromosome 3-Linked
Fryns Syndrome
Fukuyama Congenital Muscular Dystrophy
Fumarate Hydratase Deficiency
 

G 

Galactosemia
GARS-Associated Axonal Neuropathy
GATA1-Related Cytopenia
Gaucher Disease
Geleophysic Dysplasia
Genetic Prion Diseases
Giant Axonal Neuropathy
GLB1-Related Disorders
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 IV
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VI
GNE-Related Myopathy
Greig Cephalopolysyndactyly Syndrome
GRN-Related Frontotemporal Dementia
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
 

H 

Hand-Foot-Genital Syndrome
Hemophilia A
Hemophilia B
Hepatic Veno-occlusive Disease with Immunodeficiency
Hepatoerythropoietic Porphyria
Hereditary Ataxias
Hereditary Coproporphyria
Hereditary Diffuse Gastric Cancer
Hereditary Folate Malabsorption
Hereditary Hearing Loss and Deafness
Hereditary Hemorrhagic Telangiectasia
Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Hereditary Multiple Osteochondromas
Hereditary Myopathy with Early Respiratory Failure
Hereditary Neuralgic Amyotrophy
Hereditary Neuropathy with Liability to Pressure Palsies
Hereditary Pancreatitis
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Hereditary Sensory and Autonomic Neuropathy Type II
Hereditary Sensory and Autonomic Neuropathy Type IV
Hereditary Sensory Neuropathy Type IA
Hereditary Spastic Paraplegia
Heritable Pulmonary Arterial Hypertension
Hermansky-Pudlak Syndrome
Hexosaminidase A Deficiency
HFE-Associated Hereditary Hemochromatosis
Hidrotic Ectodermal Dysplasia 2
Hirschsprung Disease
Holoprosencephaly
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
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperoxaluria, Primary, Type 1
Hyperoxaluria, Primary, Type 2
Hypochondroplasia
Hypohidrotic Ectodermal Dysplasia
Hypokalemic Periodic Paralysis
Hypomyelination and Congenital Cataract
Hypophosphatasia
 

I 

IMAGe Syndrome
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Incontinentia Pigmenti
Infantile-Onset Spinocerebellar Ataxia
IPEX Syndrome
IRF6-Related Disorders
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
 

J 

Jervell and Lange-Nielsen Syndrome
Joubert Syndrome and Related Disorders
Junctional Epidermolysis Bullosa
Juvenile Hereditary Hemochromatosis
Juvenile Polyposis Syndrome
 

K 

Kabuki Syndrome
KANSL1-Related Intellectual Disability Syndrome
KAT6B-Related Disorders
KCNQ2-Related Disorders
KCNQ3-Related Benign Familial Neonatal Epilepsy
Kleefstra Syndrome
Krabbe Disease
 

L 

L1 Syndrome
Laing Distal Myopathy
LAMA2-Related Muscular Dystrophy
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Legius Syndrome
Lenz Microphthalmia Syndrome
LEOPARD Syndrome
Lesch-Nyhan Syndrome
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
Li-Fraumeni Syndrome
Limb-Girdle Muscular Dystrophy
LMNA-Related Dilated Cardiomyopathy
Loeys-Dietz Syndrome
Low Gamma-GT Familial Intrahepatic Cholestasis
Lowe Syndrome
LRRK2-Related Parkinson Disease
Lymphedema-Distichiasis Syndrome
Lymphoproliferative Disease, X-Linked
Lynch Syndrome
Lysinuric Protein Intolerance
 

M 

Majeed Syndrome
Malignant Hyperthermia Susceptibility
Mandibulofacial Dysostosis, Guion-Almeida Type
Manitoba Oculotrichoanal Syndrome
Maple Syrup Urine Disease
MAPT-Related Disorders
Marfan Syndrome
Marinesco-Sjogren Syndrome
McKusick-Kaufman Syndrome
McLeod Neuroacanthocytosis Syndrome
MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency
MECP2 Duplication Syndrome
MECP2-Related Disorders
MED12-Related Disorders
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Medullary Cystic Kidney Disease 1
Megalencephalic Leukoencephalopathy with Subcortical Cysts
MELAS
MERRF
Methylmalonic Acidemia
Microcephaly-Capillary Malformation Syndrome
Microphthalmia with Linear Skin Defects Syndrome
Milroy Disease
Mitochondrial Disorders
Mitochondrial DNA Deletion Syndromes
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mowat-Wilson Syndrome
MPV17- Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
Mucolipidosis II
Mucolipidosis III Alpha/Beta
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IVA
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
MUTYH-Associated Polyposis
MYH9-Related Disorders
Myoclonus-Dystonia
Myofibrillar Myopathy
Myopathy with Deficiency of ISCU
Myostatin-Related Muscle Hypertrophy
Myotonia Congenita
Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 2
 

N 

Nail-Patella Syndrome
NDP-Related Retinopathies
Nemaline Myopathy
Nephrogenic Diabetes Insipidus
Neurodegeneration with Brain Iron Accumulation
Neuroferritinopathy
Neurofibromatosis 1
Neurofibromatosis 2
Neuronal Ceroid-Lipofuscinoses
Nevoid Basal Cell Carcinoma Syndrome
Niemann-Pick Disease Type C
Nijmegen Breakage Syndrome
NKX2-1-Related Disorders
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Noonan Syndrome
NSDHL-Related Disorders
 

O 

Ocular Albinism, X-Linked
Oculocutaneous Albinism Type 1
Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type 4
Oculopharyngeal Muscular Dystrophy
Opitz G/BBB Syndrome, X-Linked
Optic Atrophy Type 1
Oral-Facial-Digital Syndrome Type I
Organic Acidemias
Ornithine Transcarbamylase Deficiency
OTOF-Related Deafness
Otopalatodigital Spectrum Disorders
 

P 

Pachyonychia Congenita
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia
Pallister-Hall Syndrome
Pantothenate Kinase-Associated Neurodegeneration
Parkin Type of Early-Onset Parkinson Disease
Parkinson Disease
Pendred Syndrome/DFNB4
Periventricular Heterotopia, X-Linked
Permanent Neonatal Diabetes Mellitus
Perry Syndrome
Peters Plus Syndrome
Peutz-Jeghers Syndrome
Phelan-McDermid Syndrome
Phenylalanine Hydroxylase Deficiency
Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphorylase Kinase Deficiency
PIK3CA-Related Fibroadipose Hyperplasia
PIK3CA-Related Segmental Overgrowth
PINK1 Type of Young-Onset Parkinson Disease
Pitt-Hopkins Syndrome
PLA2G6-Associated Neurodegeneration
Pleuropulmonary Blastoma
PLP1-Related Disorders
PMM2-CDG (CDG-Ia)
Pol III-Related Leukodystrophies
POLG-Related Disorders
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Recessive
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Polymicrogyria
Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 4
Prader-Willi Syndrome
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
Primary Autosomal Recessive Microcephaly
Primary Ciliary Dyskinesia
Primary Congenital Glaucoma
Primary Familial Brain Calcification
Progressive Myoclonus Epilepsy, Lafora Type
Proopiomelanocortin Deficiency
PROP1-Related Combined Pituitary Hormone Deficiency
Propionic Acidemia
Proteus Syndrome
Prothrombin-Related Thrombophilia
PRSS1-Related Hereditary Pancreatitis
Pseudoachondroplasia
Pseudohypoaldosteronism Type II
Pseudoxanthoma Elasticum
PTEN Hamartoma Tumor Syndrome (PHTS)
Pyridoxine-Dependent Epilepsy
Pyruvate Carboxylase Deficiency
 

R 

Rapid-Onset Dystonia-Parkinsonism
RASA1-Related Disorders
Red-Green Color Vision Defects
Refsum Disease
Renal Coloboma Syndrome
Retinitis Pigmentosa
Retinoblastoma
Rhizomelic Chondrodysplasia Punctata Type 1
Roberts Syndrome
Romano-Ward Syndrome
ROR2-Related Robinow Syndrome
Rothmund-Thomson Syndrome
Rotor Syndrome
RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
Rubinstein-Taybi Syndrome
Russell-Silver Syndrome
 

S 

Saethre-Chotzen Syndrome
Salih Myopathy
SALL4-Related Disorders
Schimke Immunoosseous Dysplasia
SCN1A-Related Seizure Disorders
SCN9A-Related Inherited Erythromelalgia
Short Chain Acyl-CoA Dehydrogenase Deficiency
SHORT Syndrome
SHOX-Related Haploinsufficiency Disorders
Shprintzen-Goldberg Syndrome
Shwachman-Diamond Syndrome
Sialuria
Sickle Cell Disease
Simpson-Golabi-Behmel Syndrome Type 1
Sitosterolemia
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Snyder-Robinson Syndrome
SOST-Related Sclerosing Bone Dysplasias
Sotos Syndrome
SOX2-Related Eye Disorders
Spastic Paraplegia 11
Spastic Paraplegia 3A
Spastic Paraplegia 4
Spastic Paraplegia 7
Spastic Paraplegia 8
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 Type10
Spinocerebellar Ataxia Type11
Spinocerebellar Ataxia Type12
Spinocerebellar Ataxia Type13
Spinocerebellar Ataxia Type14
Spinocerebellar Ataxia Type15
Spinocerebellar Ataxia Type17
Spinocerebellar Ataxia Type20
Spinocerebellar Ataxia Type28
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
Spondylocostal Dysostosis, Autosomal Recessive
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondylothoracic Dysostosis
Stickler Syndrome
Succinic Semialdehyde Dehydrogenase Deficiency
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria
SYNE1-Related Autosomal Recessive Cerebellar Ataxia
Systemic Primary Carnitine Deficiency
 

T 

TARDBP-Related Amyotrophic Lateral Sclerosis
TBX5-Related Holt-Oram Syndrome
Tetra-Amelia Syndrome
TFR2-Related Hereditary Hemochromatosis
Thanatophoric Dysplasia
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thoracic Aortic Aneurysms and Aortic Dissections
Thrombocytopenia Absent Radius Syndrome
Timothy Syndrome
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
Tourette Syndrome
Townes-Brocks Syndrome
Treacher Collins Syndrome
Trimethylaminuria
Troyer Syndrome
TSEN54-Related Pontocerebellar Hypoplasia
Tuberous Sclerosis Complex
Tyrosine Hydroxylase Deficiency
Tyrosinemia Type I
 

U 

Udd Distal Myopathy
UMOD-Associated Kidney Disease
Unverricht-Lundborg Disease
Urea Cycle Disorders
UROD-Related Porphyrias
Urofacial Syndrome
Usher Syndrome Type 2
Usher Syndrome Type I
 

V 

Variegate Porphyria
VCAN-Related Vitreoretinopathy
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency
VLDLR-Associated Cerebellar Hypoplasia
Von Hippel-Lindau Disease
von Willebrand Disease
 

W 

Waardenburg Syndrome Type I
WAS-Related Disorders
Weill-Marchesani Syndrome
Werner Syndrome
WFS1-Related Disorders
Williams Syndrome
Wilms Tumor
Wilson Disease
Wolf-Hirschhorn Syndrome
 

X 

X-Linked Adrenal Hypoplasia Congenita
X-Linked Agammaglobulinemia
X-Linked Centronuclear Myopathy
X-Linked Dystonia-Parkinsonism Syndrome
X-Linked Hyper IgM Syndrome
X-Linked Hypophosphatemia
X-Linked Juvenile Retinoschisis
X-Linked Protoporphyria
X-Linked Severe Combined Immunodeficiency
X-Linked Sideroblastic Anemia and Ataxia
Xeroderma Pigmentosum
 

Y 

Y Chromosome Infertility
 

Z 

ZAP70-Related Severe Combined Immunodeficiency
Zellweger Syndrome Spectrum