ClinVar Miner

Variants reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283463
Total variants unanimously reported as benign: 200387

Breakdown by submitter #

Total submitters: 359
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Submitter Variants
Invitae 134921
GeneDx 128216
Illumina Laboratory Services, Illumina 35387
PreventionGenetics, part of Exact Sciences 30215
Genome-Nilou Lab 16387
CeGaT Center for Human Genetics Tuebingen 8200
Ambry Genetics 7947
Eurofins Ntd Llc (ga) 7945
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7628
Athena Diagnostics Inc 7190
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7171
Clinical Genetics, Academic Medical Center 6814
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6340
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4587
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4522
Natera, Inc. 3905
Genetic Services Laboratory, University of Chicago 3886
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3595
Genome Diagnostics Laboratory, University Medical Center Utrecht 3041
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2297
Mendelics 2093
Color Diagnostics, LLC DBA Color Health 2027
Quest Diagnostics Nichols Institute San Juan Capistrano 1760
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1741
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1713
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1668
Myriad Genetics, Inc. 1578
Sema4, Sema4 1503
Mayo Clinic Laboratories, Mayo Clinic 1410
Fulgent Genetics, Fulgent Genetics 1384
Genome Diagnostics Laboratory, The Hospital for Sick Children 1361
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1350
ISCA site 19 1157
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 972
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 928
All of Us Research Program, National Institutes of Health 887
Department of Pathology and Laboratory Medicine, Sinai Health System 754
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 685
Dept Of Ophthalmology, Nagoya University 635
ISCA site 4 615
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 578
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 559
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 553
ISCA Site 6 552
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 414
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 403
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 392
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 370
Pars Genome Lab 350
ISCA site 8 331
Molecular Genetics Laboratory, London Health Sciences Centre 320
Sharing Clinical Reports Project (SCRP) 312
Counsyl 309
ISCA site 7 307
OMIM 245
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 213
Cohesion Phenomics 208
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 206
RettBASE 190
ISCA site 2 184
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 182
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 182
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 165
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 159
Centre for Population Genomics, CPG 146
Michigan Medical Genetics Laboratories, University of Michigan 140
Molecular Genetics, Royal Melbourne Hospital 138
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 134
ClinGen RASopathy Variant Curation Expert Panel 128
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 122
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 120
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 120
Baylor Genetics 111
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 108
Centre for Mendelian Genomics, University Medical Centre Ljubljana 105
BRCAlab, Lund University 90
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 89
SIB Swiss Institute of Bioinformatics 80
ClinGen Myeloid Malignancy Variant Curation Expert Panel 80
GeneReviews 73
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 72
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 69
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 69
Leiden Open Variation Database 68
Institute of Human Genetics, University of Leipzig Medical Center 65
Breast Cancer Information Core (BIC) (BRCA2) 61
ClinGen CDH1 Variant Curation Expert Panel 61
Vantari Genetics 58
GeneKor MSA 56
Genetics Program, Instituto Nacional de Cancer 56
King Laboratory, University of Washington 54
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 54
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 54
Pathway Genomics 53
CFTR-France 53
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 51
Genomic Research Center, Shahid Beheshti University of Medical Sciences 48
ClinGen Cardiomyopathy Variant Curation Expert Panel 47
ISCA site 17 46
True Health Diagnostics 45
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 43
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health 43
Johns Hopkins Genomics, Johns Hopkins University 42
Clinical Genetics, Erasmus University Medical Center 41
Phosphorus, Inc. 41
Reproductive Health Research and Development, BGI Genomics 39
H3Africa Consortium 39
Genetics and Molecular Pathology, SA Pathology 38
Center of Medical Genetics and Primary Health Care 36
CeMIA 36
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 36
Breast Cancer Information Core (BIC) (BRCA1) 35
Department of Medical and Surgical Sciences, University of Bologna 35
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 34
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 33
PXE International 32
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 32
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 30
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 29
Robarts Research Institute, Western University 28
ClinGen Hearing Loss Variant Curation Expert Panel 27
Institute of Human Genetics, Medical University Innsbruck 26
LDLR-LOVD, British Heart Foundation 26
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 26
Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital 25
Claritas Genomics 24
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 24
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 23
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 22
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 21
Dunham Lab, University of Washington 20
ISCA site 1 19
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 18
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 18
ClinGen Monogenic Diabetes Variant Curation Expert Panel 18
Northcott Neuroscience Laboratory, ANZAC Research Institute 17
Medical Molecular Genetics Department, National Research Center 17
Department of Pathology and Molecular Medicine, Queen's University 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 17
Inherited Neuropathy Consortium 17
ClinGen PAH Variant Curation Expert Panel 17
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 17
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 17
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 16
ISCA site 15 15
Stanford Center for Inherited Cardiovascular Disease, Stanford University 15
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 15
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 15
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 15
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 15
Revvity Omics, Revvity 14
University of Washington Department of Laboratory Medicine, University of Washington 14
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology 14
Neuromuscular Research, Maastricht University Medical Centre 14
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 14
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 14
IntelligeneCG 13
Reproductive Development, Murdoch Childrens Research Institute 13
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 13
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 11
Iberoamerican FH Network 10
Clingen PTEN Variant Curation Expert Panel, Clingen 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 9
MGZ Medical Genetics Center 9
Blueprint Genetics 9
Medical Genetics, University of Parma 9
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 9
Phillips Lab, Hematology, University of Utah 9
ClinGen Glaucoma Variant Curation Expert Panel 9
Center for Human Genetics, Inc, Center for Human Genetics, Inc 8
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8
Willoughby Group, Queen's University Belfast 8
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 8
INGEBI, INGEBI / CONICET 8
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 8
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 8
Genetics Laboratory, Lanzhou University 8
ISCA site 11 7
Cytogenetics- Mohapatra Lab, Banaras Hindu University 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Faculty of Medicine Ramathibodi Hospital, Mahidol University 7
Carola Vinuesa Lab, John Curtin School of Medical Research 7
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 7
Dept of Medical Biology, Uskudar University 7
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 7
Center for Forensic Mental Health, Chiba University 7
Molecular Genetics Laboratory, Institute for Ophthalmic Research 6
CSER _CC_NCGL, University of Washington 6
Human Genetics Disease in Children – Taif University, Taif University 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6
Pharmacology and Genetics Laboratory, Bauru School of Dentistry, University of Sao Paulo 6
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 6
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 6
Pecori Giraldi Lab, University of Milan 6
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 6
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 6
Ayesha Lab, University of the Punjab 6
Division of Hematology and Transfusion Medicine, Lund University 6
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen 6
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 5
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 5
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5
Fundacion Hipercolesterolemia Familiar 5
ClinGen TP53 Variant Curation Expert Panel, ClinGen 5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 5
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 5
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 5
Cytogenetics Laboratory, University of Washington 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 4
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 4
College of Science, Al Muthanna University, Al Muthanna University 4
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 4
Stefan Somlo Laboratory, Yale School of Medicine 4
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 4
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 4
ClinGen Brain Malformations Variant Curation Expert Panel 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 4
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 4
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 4
Clinical Biochemistry Laboratory, Health Services Laboratory 3
Institute of Human Genetics, University of Ulm 3
American College of Medical Genetics and Genomics (ACMG) 3
ISCA site 3 3
Dr. Guy Rouleau's laboratory, McGill University 3
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 3
Daryl Scott Lab, Baylor College of Medicine 3
Muenke lab, National Institutes of Health 3
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 3
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 3
Institute of Human Genetics, University Hospital Muenster 3
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 3
Laboratorio de Biologia Experimental, Instituto Nacional de Pediatria, Mexico 3
iDNA Genomics 3
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 3
Razi Pathobiology & Medical Genetics 3
Genomics Division, Defence Institute of Physiology and Allied Sciences 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2
Eye Genetics Research Group, Children's Medical Research Institute 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2
Nyegaard lab; Aarhus University 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2
ISCA site 14 2
National Institute of Mental Health and Neurosciences 2
University of Washington Center for Mendelian Genomics, University of Washington 2
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 2
Oral and Maxillofacial Surgery, Tokyo Medical and Dental University 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2
Department of Ophthalmology, Flinders University 2
Department of Medical Genetics, University Hospital of North Norway 2
Neurogenetics Research Program, University of Adelaide 2
Santos-Cortez Lab, University of Colorado School of Medicine 2
Molecular Oncology Laboratory, Hospital Clínico San Carlos 2
Division of Genomics, Kyushu university 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 2
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer 2
SingHealth Duke-NUS Institute of Precision Medicine 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2
Dash Lab, University Health Network 2
Polak associated Lab, IMAGINE Institute 2
Centre for Medical Genetics, Mumbai 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2
Applied Genomics Center, Hong Kong University of Science and Technology 2
DBGen Ocular Genomics 2
Department of Biosciences, University of Milan 2
Faculté de Médecine, de Pharmacie et d'odontostomatologie, Université Cheikh Anta Diop 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 2
Molecular Reproductive And Human Genetics Laboratory, University Of Mysore 2
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1
Centogene AG - the Rare Disease Company 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1
Versiti Diagnostic Laboratories, Versiti, Inc 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1
Elahi Laboratory, University of Tehran 1
Laboratorio de Genetica Humana; Universidad de los Andes 1
IIFP, CONICET-UNLP 1
University of British Columbia 1
Centre for Human Genetics 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1
Northeastern University 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1
emedgene Technologies 1
Diagnostic Laboratory, Strasbourg University Hospital 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1
Institute of Human Genetics, University Hospital of Duesseldorf 1
NIHR Bioresource Rare Diseases, University of Cambridge 1
Heart Center, Academic Medical Center Amsterdam 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1
Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development, UConn Health Center 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1
Dept of Molecular Biology and Genetics, Bogazici University 1
Pediatric Nephrology (Iijima Lab), Kobe University Graduate School of Medicine 1
Neurometabolisches Labor, University hospital Tuebingen 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 1
New Leaf Center 1
Medical Institute of Bioregulation, Kyushu university 1
Institutes of Biomedical Sciences, Shanxi University 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 1
Department of Human Genetics, University Hospital Magdeburg 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 1
Center of Medical Genetics, Central South University 1
Division of Genetic Medicine, Lausanne University Hospital 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1
Laboratory of Medical Genetics, University of Torino 1
Gharavi Laboratory, Columbia University 1
Breda Genetics srl 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1
James R Lupski Laboratory, Baylor College Of Medicine 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1
Department of Medical Genomics, Royal Prince Alfred Hospital 1
Cancer Genomics Group, Japanese Foundation For Cancer Research 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 1
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 1
Molecular Diagnosis Center for Deafness 1
Genomics Facility, Ludwig-Maximilians-Universität München 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1
Breast Center, Key Laboratory of Carcinogenesis and Translational Research 1
Lifecell International Pvt. Ltd 1
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 1
Physiology, Radboud University Medical Center 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 1
Institute of Medical Genetics, Medical University of Vienna 1
Neuberg Centre For Genomic Medicine, NCGM 1
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1
Davare Laboratory, Oregon Health & Science University 1
JKU Lab, Dept of Paediatrics, Johannes Kepler University 1
Department of Laboratory Medicine, Ruijin Hospital 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 1
Laboratory of Hematology, Radboud University Medical Center 1
Dr. Afia Zoology Lab, University of Education 1
Human Disease Genetics and Animal Model Lab, Shanxi University 1
Narges Medical Genetic and Prenatal Diagnosis Lab 1
Biotechnology Lab, University of Central Punjab 1
Vasylyeva lab, Texas Tech University Health Sciences Center 1
Rare Disease Genomics Group, St George's University of London 1

Breakdown by condition #

Total conditions: 9673
Download table as spreadsheet
Condition Variants
not provided 193746
not specified 43115
See cases 4229
Hereditary cancer-predisposing syndrome 3172
Cardiovascular phenotype 2662
Primary ciliary dyskinesia 2311
Inborn genetic diseases 2067
Cardiomyopathy 1625
Tuberous sclerosis 2 1520
Tibial muscular dystrophy 1492
Myopathy, myofibrillar, 9, with early respiratory failure 1393
Familial adenomatous polyposis 1 1273
Kabuki syndrome 1125
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 947
Spastic paraplegia 940
Breast-ovarian cancer, familial, susceptibility to, 2 908
Hereditary breast ovarian cancer syndrome 883
Familial thoracic aortic aneurysm and aortic dissection 805
Leigh syndrome 802
Breast-ovarian cancer, familial, susceptibility to, 1 794
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 698
Ehlers-Danlos syndrome, classic type, 1 650
Early-onset myopathy with fatal cardiomyopathy 642
Long QT syndrome 642
Adams-Oliver syndrome 5 641
Autosomal recessive limb-girdle muscular dystrophy type 2J 641
Hereditary nonpolyposis colorectal neoplasms 635
Retinal dystrophy 635
Bethlem myopathy 1A 634
Retinitis pigmentosa 629
Early infantile epileptic encephalopathy with suppression bursts 616
Nemaline myopathy 2 530
Fanconi anemia 511
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 472
Familial cancer of breast 456
Gorlin syndrome 420
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 410
Duchenne muscular dystrophy 399
Collagen 6-related myopathy 398
CHARGE association 395
Tuberous sclerosis 1 391
Hypertrophic cardiomyopathy 370
Ovarian cancer 370
Maturity onset diabetes mellitus in young 368
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 351
Charcot-Marie-Tooth disease 326
Epileptic encephalopathy 324
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 320
Congenital contractural arachnodactyly 316
Catecholaminergic polymorphic ventricular tachycardia 1 291
RASopathy 290
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 280
MUC16-related condition 276
Connective tissue disorder 268
Methylmalonic acidemia with homocystinuria, type cblX 267
Ehlers-Danlos syndrome 258
Alpha thalassemia-X-linked intellectual disability syndrome 253
Hereditary spastic paraplegia 249
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 249
Kleefstra syndrome 1 249
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 248
Occult macular dystrophy 247
Charcot-Marie-Tooth disease type 2 246
Wolfram syndrome 1 242
Ataxia-telangiectasia syndrome 241
Hypercholesterolemia, familial, 1 239
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 234
Rubinstein-Taybi syndrome 229
Bardet-Biedl syndrome 228
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 224
Charcot-Marie-Tooth disease type 4 220
Nephronophthisis 214
Lynch syndrome 213
RYR1-Related Disorders 213
KBG syndrome 211
Malignant tumor of breast 210
Breast and/or ovarian cancer 209
Neurofibromatosis, type 1 206
Primary dilated cardiomyopathy 198
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 195
Autoinflammatory syndrome 192
Aortic valve disease 1 191
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 188
Brugada syndrome 184
Fibromuscular dysplasia, multifocal 184
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 183
Autosomal recessive polycystic kidney disease 181
Familial aplasia of the vermis; Meckel-Gruber syndrome 180
Tuberous sclerosis syndrome 178
Polycystic kidney disease, adult type 177
Jeune thoracic dystrophy 176
Severe neonatal-onset encephalopathy with microcephaly 176
Usher syndrome type 1 176
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 174
Charcot-Marie-Tooth disease axonal type 2O 172
Imerslund-Grasbeck syndrome 171
Usher syndrome type 2A 171
Landau-Kleffner syndrome 169
FG syndrome 168
OBSCN-related condition 167
Premature ovarian failure 167
Cardiac arrhythmia 165
Rett syndrome 165
Dystonic disorder 161
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 159
Cohen syndrome 157
Osteogenesis imperfecta type I 157
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 155
Retinoblastoma 155
DICER1-related tumor predisposition 154
Ellis-van Creveld syndrome; Curry-Hall syndrome 151
Malignant hyperthermia, susceptibility to, 1 150
Osteogenesis imperfecta 150
LAMA2-related muscular dystrophy 149
Dyskeratosis congenita 147
Noonan syndrome and Noonan-related syndrome 147
DNAH17-related condition 146
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 146
Polycystic kidney disease 143
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 143
Familial hypercholesterolemia 141
Fraser syndrome 1 139
Hyperkalemic periodic paralysis 139
Maple syrup urine disease 139
Qualitative or quantitative defects of dysferlin 139
Autosomal dominant cerebellar ataxia 138
Cystic fibrosis 138
Fibrous dysplasia of jaw 138
Monogenic diabetes 138
Vitreoretinopathy 138
Disorders of Intracellular Cobalamin Metabolism 135
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 135
Hypokalemic periodic paralysis, type 1 134
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 134
Autosomal recessive ataxia, Beauce type 131
Transposition of the great arteries, dextro-looped 130
Weill-Marchesani syndrome 130
Pheochromocytoma 129
Dilated cardiomyopathy 1G 128
Developmental and epileptic encephalopathy, 5 126
Intellectual disability, X-linked 1 126
MHC class II deficiency 126
Susceptibility to mononeuropathy of the median nerve, mild 125
Androgen resistance syndrome; Kennedy disease 124
Familial aplasia of the vermis 124
Creatine transporter deficiency 123
Alstrom syndrome 122
Ellis-van Creveld syndrome 122
Paroxysmal extreme pain disorder 122
Hereditary diffuse gastric adenocarcinoma 121
Aortic aneurysm, familial thoracic 4 120
Intellectual disability, autosomal dominant 5 120
Sotos syndrome 120
Alport syndrome 119
Donnai-Barrow syndrome 119
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 119
MYH9-related disorder 119
Mowat-Wilson syndrome 119
Porencephaly 2 119
Brittle cornea syndrome 1 118
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 117
Lethal Kniest-like syndrome 116
Cardiac arrhythmia, ankyrin-B-related 115
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 115
Isolated focal non-epidermolytic palmoplantar keratoderma 115
Rhabdoid tumor predisposition syndrome 2 115
Schwartz-Jampel syndrome 115
Hypoalphalipoproteinemia, primary, 1 114
Luscan-Lumish syndrome 114
Baller-Gerold syndrome 113
Congenital myasthenic syndrome 8 113
Hypertrophic cardiomyopathy 14 113
Hereditary pancreatitis 112
Charcot-Marie-Tooth disease type 4C 111
Freeman-Sheldon syndrome 111
Hereditary pheochromocytoma-paraganglioma 111
Marfan syndrome 111
Nance-Horan syndrome 111
Autosomal dominant polycystic kidney disease 110
Gastrointestinal stromal tumor 110
Lynch syndrome 1 108
Chorea-acanthocytosis 107
Koolen-de Vries syndrome 107
Microcephalic osteodysplastic primordial dwarfism type II 107
Primary erythromelalgia 107
Adrenoleukodystrophy 106
Fanconi anemia complementation group A 106
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 106
Lynch syndrome 5 106
Potassium-aggravated myotonia 106
Seizures, benign familial neonatal, 2 106
Alagille syndrome due to a JAG1 point mutation 104
Emery-Dreifuss muscular dystrophy 104
Usher syndrome type 1D 104
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 103
Ehlers-Danlos syndrome, dermatosparaxis type 103
Immunodeficiency 104 103
Wilms tumor 1 103
Craniometaphyseal dysplasia, autosomal dominant 102
Pseudohypoaldosteronism type 2C 102
Severe combined immunodeficiency due to DNA-PKcs deficiency 102
Autosomal recessive hyper-IgE syndrome 101
Dilated cardiomyopathy 1DD 101
Infantile-onset X-linked spinal muscular atrophy 101
Autosomal dominant Parkinson disease 8 100
Combined immunodeficiency due to LRBA deficiency 100
Holoprosencephaly 11 100
Junctional epidermolysis bullosa, non-Herlitz type 100
Neuropathy, hereditary sensory and autonomic, type 1C 100
Werner syndrome 100
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 99
Brain small vessel disease 1 with or without ocular anomalies 99
Congenital multicore myopathy with external ophthalmoplegia 99
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 99
Genitopatellar syndrome 99
Alternating hemiplegia of childhood 1 98
Colorectal cancer, susceptibility to, 10 98
Paramyotonia congenita of Von Eulenburg 98
Primary ciliary dyskinesia 3 98
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 97
Familial cold autoinflammatory syndrome 3 97
Hereditary sensory neuropathy-deafness-dementia syndrome 97
Neuroblastoma, susceptibility to, 3 97
Platelet-type bleeding disorder 9 97
Autosomal dominant nocturnal frontal lobe epilepsy 96
Chédiak-Higashi syndrome 96
Greig cephalopolysyndactyly syndrome 96
TTN-related condition 96
Weill-Marchesani 4 syndrome, recessive 96
Galactosylceramide beta-galactosidase deficiency 95
Hypokalemic periodic paralysis, type 2 95
Glucocorticoid-remediable aldosteronism 94
Glycogen storage disease, type II 94
Neuronal ceroid lipofuscinosis 94
Pallister-Hall syndrome 94
Pitt-Hopkins syndrome 94
Polydactyly 94
Oculofaciocardiodental syndrome 93
Catecholaminergic polymorphic ventricular tachycardia 92
Chondrocalcinosis 2 92
Congenital hyperammonemia, type I 92
Intellectual disability, CASK-related, X-linked 92
Malignant hyperthermia, susceptibility to, 5 92
Thrombocytopenia 2 92
Zellweger spectrum disorders 92
Developmental and epileptic encephalopathy, 36 91
FBN3-related condition 91
Noonan syndrome 9 91
Autosomal dominant nonsyndromic hearing loss 11 90
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 90
Early myoclonic encephalopathy 90
Ehlers-Danlos syndrome, type 4 90
Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 90
Geleophysic dysplasia 90
Migraine, familial hemiplegic, 2 90
Non-ketotic hyperglycinemia 90
Xanthinuria type II 90
Abnormality of neuronal migration 89
Acromicric dysplasia 89
Dilated cardiomyopathy 1JJ 89
Ectopia lentis 1, isolated, autosomal dominant 89
Focal segmental glomerulosclerosis 89
Stiff skin syndrome 89
Familial acute necrotizing encephalopathy 88
MHC class I deficiency 88
X-linked lymphoproliferative disease due to XIAP deficiency 88
Aortic aneurysm, familial thoracic 7 87
Developmental and epileptic encephalopathy, 12 87
Developmental and epileptic encephalopathy, 26 86
Hereditary hemorrhagic telangiectasia 86
Long QT syndrome 11 86
Age related macular degeneration 1 85
CBL-related disorder 85
Congenital factor V deficiency 85
DCHS2-related condition 85
Familial aplasia of the vermis; Orofaciodigital syndrome I 85
Imerslund-Grasbeck syndrome type 1 85
Pityriasis rubra pilaris; Psoriasis 2 85
Pyruvate dehydrogenase E1-alpha deficiency 85
Telangiectasia, hereditary hemorrhagic, type 2 85
Isolated focal cortical dysplasia type II 84
Peutz-Jeghers syndrome 84
Bloom syndrome 83
Developmental and epileptic encephalopathy, 30 83
Kabuki syndrome 2 83
Usher syndrome type 2C 83
Vici syndrome 83
Central core myopathy 82
Developmental and epileptic encephalopathy 94 82
Fleck corneal dystrophy 82
Hajdu-Cheney syndrome 82
Saldino-Mainzer syndrome 82
Treacher Collins syndrome 1 82
Chromosome 2q32-q33 deletion syndrome 81
Cortical dysplasia-focal epilepsy syndrome 81
Craniosynostosis syndrome 81
Familial cold autoinflammatory syndrome 2 81
Intellectual disability, autosomal dominant 16 81
Progressive sclerosing poliodystrophy 81
ZFHX3-related condition 81
Amyotrophic lateral sclerosis type 4 80
Fraser syndrome 2 80
Retinitis pigmentosa 39 80
Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 79
Heterotaxy, visceral, 4, autosomal 79
Oculotrichoanal syndrome 79
Optic atrophy 3 79
DNHD1-related condition 78
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 78
Myoclonic-atonic epilepsy 78
Nemaline myopathy 6 78
Niemann-Pick disease, type C1 78
Amyotrophic neuralgia 77
Ehlers-Danlos syndrome, classic type, 2 77
Oligodontia-cancer predisposition syndrome 77
Schuurs-Hoeijmakers syndrome 77
Vesicoureteral reflux 2 77
Supravalvar aortic stenosis 76
Wagner syndrome 76
Autosomal recessive nonsyndromic hearing loss 12 75
Brachydactyly 75
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 75
Colorectal cancer, hereditary nonpolyposis, type 2 75
Congenital muscular hypertrophy-cerebral syndrome 75
Danon disease 75
Ehlers-Danlos syndrome, arthrochalasia type 75
Epidermodysplasia verruciformis 75
Hereditary spastic paraplegia 39 75
Hypercholesterolemia, autosomal dominant, 3 75
Achondrogenesis, type IA 74
Carcinoma of colon 74
Cataract 18 74
Coffin-Siris syndrome 74
Cornelia de Lange syndrome 1 74
Developmental and epileptic encephalopathy, 69 74
Familial hemophagocytic lymphohistiocytosis 3 73
Junctional epidermolysis bullosa gravis of Herlitz 73
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 73
Parietal foramina 2 73
Renal tubular dysgenesis 73
Birt-Hogg-Dube syndrome 72
Blau syndrome 72
Chitotriosidase deficiency 72
Congenital myopathy 18 72
Glycogen storage disease type III 72
LRP1B-related condition 72
Nicolaides-Baraitser syndrome 72
Sacral defect with anterior meningocele 72
TP63-Related Spectrum Disorders 72
Thyrotoxic periodic paralysis, susceptibility to, 1 72
Autosomal dominant nocturnal frontal lobe epilepsy 5 71
DYRK1A-related intellectual disability syndrome 71
Developmental and epileptic encephalopathy, 14 71
Diamond-Blackfan anemia 71
Focal segmental glomerulosclerosis 5 71
Melanoma, cutaneous malignant, susceptibility to, 5 71
Mitochondrial complex I deficiency, nuclear type 1 71
Nail-patella syndrome 71
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 71
Cataract 6 multiple types 70
Charcot-Marie-Tooth disease dominant intermediate B 70
Gamma-aminobutyric acid transaminase deficiency 70
Hereditary spastic paraplegia 48 70
Autosomal dominant pseudohypoaldosteronism type 1 69
FSIP2-related condition 69
Hereditary spastic paraplegia 11 69
Intellectual disability, autosomal dominant 8 69
Progressive familial heart block type IB 69
Type 2 diabetes mellitus 69
Type II Collagenopathies 69
Autosomal recessive Alport syndrome 68
Developmental and epileptic encephalopathy 98 68
Ehlers-Danlos syndrome, classic type 68
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 68
Microcephaly, normal intelligence and immunodeficiency 68
Mucopolysaccharidosis, MPS-II 68
Usher syndrome type 1F 68
Wilson disease 68
Combined immunodeficiency due to DOCK8 deficiency 67
Junctional epidermolysis bullosa 67
ALPK2-related condition 66
Asphyxiating thoracic dystrophy 3 66
Atypical hemolytic-uremic syndrome with C3 anomaly 66
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 66
Fanconi anemia complementation group P 66
Hereditary spherocytosis type 1 66
Knobloch syndrome 66
Left ventricular noncompaction 8 66
MEGF8-related Carpenter syndrome 66
Methylcobalamin deficiency type cblG 66
Progressive myoclonic epilepsy 66
Rabson-Mendenhall syndrome 66
Severe X-linked myotubular myopathy 66
Dystonia 12 65
Growth delay due to insulin-like growth factor I resistance 65
Hereditary diffuse leukoencephalopathy with spheroids 65
Leprechaunism syndrome 65
Leukocyte adhesion deficiency 1 65
MAPT-Related Spectrum Disorders 65
MYOM2-related condition 65
Multiple cutaneous and mucosal venous malformations 65
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 65
Palmoplantar keratoderma-esophageal carcinoma syndrome 65
Papillary renal cell carcinoma type 1 65
Arterial calcification, generalized, of infancy, 1 64
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 64
Idiopathic generalized epilepsy 64
Multiple endocrine neoplasia, type 2 64
Posterior column ataxia-retinitis pigmentosa syndrome 64
Retinal cone dystrophy 4 64
XIRP2-related condition 64
ALG9 congenital disorder of glycosylation 63
Autosomal recessive inherited pseudoxanthoma elasticum 63
Brachydactyly type B1 63
Cone-rod dystrophy 2 63
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 63
Insulin-resistant diabetes mellitus AND acanthosis nigricans 63
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 63
Tangier disease 63
von Willebrand disease type 1 63
Atypical hemolytic-uremic syndrome 62
Autosomal recessive limb-girdle muscular dystrophy type 2B 62
Bardet-Biedl syndrome 1 62
Congenital microvillous atrophy 62
DOCK2 deficiency 62
Diabetes mellitus, transient neonatal, 2 62
Erythrocytosis, familial, 4 62
Fibromatosis, gingival, 1 62
Generalized juvenile polyposis/juvenile polyposis coli 62
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 62
Thyroid hormone resistance, generalized, autosomal dominant 62
Autosomal dominant distal renal tubular acidosis 61
Colorectal cancer, susceptibility to, 12 61
Congenital stationary night blindness autosomal dominant 2 61
Familial Mediterranean fever 61
Ichthyosis linearis circumflexa 61
Neurofibromatosis, type 2 61
Pulmonary hypertension, primary, 1 61
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 61
von Willebrand disease type 2 61
von Willebrand disease type 3 61
Anterior segment dysgenesis 7 60
CDH1-related diffuse gastric and lobular breast cancer syndrome 60
Cone-rod dystrophy 5 60
EGFR-related lung cancer 60
Familial focal epilepsy with variable foci 60
Hypophosphatemic rickets, autosomal recessive, 2 60
PTEN hamartoma tumor syndrome 60
Stuve-Wiedemann syndrome 60
46,XY sex reversal 6 59
Arthrogryposis multiplex congenita 6 59
Charcot-Marie-Tooth disease axonal type 2C 59
DNAH2-related condition 59
DNAH9-related condition 59
Dilated cardiomyopathy 1O 59
Exostoses, multiple, type 2 59
Familial Mediterranean fever, autosomal dominant 59
Glanzmann thrombasthenia 59
Immunodeficiency 14 59
Junctional epidermolysis bullosa with pyloric atresia 59
MYH7-related skeletal myopathy 59
Metachromatic leukodystrophy 59
Pitt-Hopkins-like syndrome 2 59
Renal cell carcinoma 59
Retinitis pigmentosa 25 59
Spondylometaphyseal dysplasia, Kozlowski type 59
Autosomal dominant nonsyndromic hearing loss 6 58
Blau syndrome; Regional enteritis 58
Brachyrachia (short spine dysplasia) 58
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 58
EPPK1-related condition 58
Episodic ataxia type 1 58
Erythrocytosis, familial, 3 58
Intellectual disability 58
Lethal multiple pterygium syndrome 58
Metatropic dysplasia 58
Neuroblastoma 58
Neurofibromatosis, familial spinal 58
Neuronopathy, distal hereditary motor, autosomal dominant 8 58
Norman-Roberts syndrome 58
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 58
Perlman syndrome 58
Propionic acidemia 58
Scapuloperoneal spinal muscular atrophy 58
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 58
T-B+ severe combined immunodeficiency due to JAK3 deficiency 58
Arterial calcification, generalized, of infancy, 2 57
Autoimmune lymphoproliferative syndrome type 1 57
Developmental and epileptic encephalopathy, 31 57
Dilated cardiomyopathy 1KK 57
Hypohidrotic ectodermal dysplasia 57
Intellectual disability, autosomal dominant 1 57
Isolated Nonsyndromic Congenital Heart Disease 57
Kidney disorder 57
MDN1-related condition 57
Majeed syndrome 57
Megalencephalic leukoencephalopathy with subcortical cysts 1 57
Mucopolysaccharidosis, MPS-IV-A 57
Netherton syndrome 57
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 56
Acrodysostosis 2 with or without hormone resistance 56
Alternating hemiplegia of childhood 2 56
Autoimmune lymphoproliferative syndrome type 2A 56
Desbuquois dysplasia 1 56
Diaphyseal medullary stenosis-bone malignancy syndrome 56
Elliptocytosis 2 56
Familial hypokalemia-hypomagnesemia 56
Holocarboxylase synthetase deficiency 56
Holoprosencephaly 7 56
Ichthyosis vulgaris 56
Pancreatic cancer, susceptibility to, 1 56
Polycystic liver disease 2 56
Pseudoxanthoma elasticum, forme fruste 56
Acrocallosal syndrome 55
Auriculocondylar syndrome 2 55
Autoimmune interstitial lung disease-arthritis syndrome 55
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 55
Congenital fibrosis of extraocular muscles type 1 55
Deficiency of alpha-mannosidase 55
Episodic ataxia type 5 55
Familial hyperthyroidism due to mutations in TSH receptor 55
Hemolytic uremic syndrome, atypical, susceptibility to, 1 55
Hermansky-Pudlak syndrome 55
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 55
Microcephaly 5, primary, autosomal recessive 55
Polydactyly of a triphalangeal thumb 55
Pyridoxine-dependent epilepsy 55
Seizures, benign familial infantile, 3 55
Ulnar-mammary syndrome 55
Usher syndrome type 1C 55
5-Oxoprolinase deficiency 54
Autosomal dominant nocturnal frontal lobe epilepsy 4 54
Autosomal dominant nonsyndromic hearing loss 20 54
Autosomal dominant nonsyndromic hearing loss 4A 54
Baraitser-winter syndrome 2 54
Bohring-Opitz syndrome 54
Colorectal cancer, hereditary nonpolyposis, type 7 54
Congenital myasthenic syndrome 54
Hereditary spastic paraplegia 49 54
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 54
Myofibrillar myopathy 4 54
Neonatal-onset encephalopathy with rigidity and seizures 54
Pseudohypoparathyroidism type 1B 54
Rotor syndrome 54
Spondyloepimetaphyseal dysplasia, aggrecan type 54
Arrhythmogenic right ventricular dysplasia 9 53
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 53
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 53
Childhood apraxia of speech 53
Combined malonic and methylmalonic acidemia 53
Congenital disorder of glycosylation 53
Congenital muscular dystrophy due to integrin alpha-7 deficiency 53
Corneal dystrophy-perceptive deafness syndrome 53
Dystonia 9 53
Ehlers-danlos syndrome, arthrochalasia type, 2 53
Encephalopathy due to GLUT1 deficiency 53
Granulomatous disease, chronic, X-linked 53
Histiocytic medullary reticulosis 53
Mucopolysaccharidosis type 1 53
Von Hippel-Lindau syndrome 53
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 53
3M syndrome 2 52
Amyotrophic lateral sclerosis type 21 52
Arrhythmogenic right ventricular cardiomyopathy 52
Arrhythmogenic right ventricular dysplasia 13 52
Cone-rod dystrophy 7 52
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 52
Developmental and epileptic encephalopathy, 54 52
Hennekam lymphangiectasia-lymphedema syndrome 1 52
Hereditary spastic paraplegia 6 52
Holt-Oram syndrome 52
Idiopathic hypereosinophilic syndrome 52
Multiple endocrine neoplasia 52
Multiple endocrine neoplasia, type 1 52
Polyglandular autoimmune syndrome, type 1 52
Pontoneocerebellar hypoplasia 52
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 52
Spastic ataxia 2 52
Spondyloepiphyseal dysplasia, Kimberley type 52
Autosomal dominant nonsyndromic hearing loss 22 51
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 51
BAP1-related tumor predisposition syndrome 51
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 51
Charcot-Marie-Tooth disease type 4H 51
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 51
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 51
Exudative vitreoretinopathy 1 51
Facioscapulohumeral muscular dystrophy 2 51
Frank-Ter Haar syndrome 51
Hyperprolinemia type 2 51
Immunodeficiency 51 51
Leber congenital amaurosis 51
Methylcobalamin deficiency type cblE 51
Nephropathic cystinosis 51
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 51
Polycystic kidney disease 4 51
Primary ciliary dyskinesia 7 51
Severe combined immunodeficiency due to DCLRE1C deficiency 51
Autosomal recessive nonsyndromic hearing loss 77 50
Cone-rod dystrophy 50
D-2-hydroxyglutaric aciduria 1 50
FGFR2-related craniosynostosis 50
Hereditary spastic paraplegia 4 50
Macular corneal dystrophy 50
Miyoshi muscular dystrophy 1 50
Multiple acyl-CoA dehydrogenase deficiency 50
Pseudohypoaldosteronism type 2B 50
Agenesis of the corpus callosum with peripheral neuropathy 49
Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 49
Autosomal dominant nonsyndromic hearing loss 56 49
Autosomal recessive nonsyndromic hearing loss 2 49
Autosomal recessive pseudohypoaldosteronism type 1 49
Beaded hair 49
Congenital myasthenic syndrome 12 49
DMXL1-related condition 49
Deficiency of ferroxidase 49
Developmental and epileptic encephalopathy 99 49
Developmental and epileptic encephalopathy, 18 49
Familial dysautonomia 49
Familial hemiplegic migraine 49
Fanconi anemia complementation group D2 49
Hereditary insensitivity to pain with anhidrosis 49
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 49
Hereditary spastic paraplegia 15 49
MYO7B-related condition 49
Multiple congenital anomalies-hypotonia-seizures syndrome 1 49
Myhre syndrome 49
Nephronophthisis 15 49
Orotic aciduria 49
Osteoglophonic dysplasia 49
Otofaciocervical syndrome 1 49
Symmetrical dyschromatosis of extremities 49
Usher syndrome type 1B 49
X-linked agammaglobulinemia with growth hormone deficiency 49
Arrhythmogenic right ventricular dysplasia 10 48
Autosomal recessive DOPA responsive dystonia 48
Familial hemophagocytic lymphohistiocytosis 5 48
Hearing loss, X-linked 6 48
Holoprosencephaly 9 48
Immunodeficiency 35 48
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 48
Neonatal diabetes mellitus with congenital hypothyroidism 48
Neuronopathy, distal hereditary motor, type 5A 48
Ocular cystinosis 48
Peroxisome biogenesis disorder 48
Polycystic liver disease 1 48
WFS1-Related Spectrum Disorders 48
Arthrogryposis, distal, type 1B 47
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 47
FAT2-related condition 47
Factor V deficiency 47
Glycogen storage disease, type V 47
Hereditary coproporphyria 47
Hypertrophic cardiomyopathy 1 47
Hypogonadotropic hypogonadism 5 with or without anosmia 47
Infantile-onset ascending hereditary spastic paralysis 47
Intellectual disability, X-linked 93 47
Juvenile polyposis syndrome 47
Lowe syndrome 47
Neurofibromatosis-Noonan syndrome 47
Rett syndrome, congenital variant 47
SLC35A2-congenital disorder of glycosylation 47
Seckel syndrome 1 47
Sick sinus syndrome 1 47
Trigonocephaly 1 47
APC-Associated Polyposis Disorders 46
Acute febrile neutrophilic dermatosis 46
Autosomal dominant centronuclear myopathy 46
Benign neonatal seizures 46
Biotin-responsive basal ganglia disease 46
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 46
Chronic infantile neurological, cutaneous and articular syndrome 46
Familial amyloid nephropathy with urticaria AND deafness 46
Familial cold autoinflammatory syndrome 1 46
Familial visceral amyloidosis, Ostertag type 46
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 46
Intellectual disability, autosomal dominant 14 46
Jeune thoracic dystrophy; Nephronophthisis 46
Left ventricular noncompaction 10 46
Loeys-Dietz syndrome 4 46
Lynch syndrome 4 46
MEGF10-related myopathy 46
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 46
Mucolipidosis type II; Pseudo-Hurler polydystrophy 46
Neuromuscular disease, congenital, with uniform type 1 fiber 46
PKD1-related condition 46
Peters plus syndrome 46
Proline dehydrogenase deficiency 46
11p partial monosomy syndrome 45
Age related macular degeneration 9 45
Atrichia with papular lesions 45
Autosomal recessive limb-girdle muscular dystrophy type 2A 45
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 45
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 45
Congenital long QT syndrome 45
Cranioectodermal dysplasia 1 45
Cutis laxa with osteodystrophy 45
Deficiency of 2-methylbutyryl-CoA dehydrogenase 45
Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 45
Dilated cardiomyopathy 3B 45
Episodic ataxia type 6 45
Fibrochondrogenesis 1 45
Foveal hypoplasia 1 45
Hereditary motor and sensory neuropathy with optic atrophy 45
Kindler syndrome 45
Mucopolysaccharidosis, MPS-III-A 45
Multiple gastrointestinal atresias 45
PDZD2-related condition 45
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 45
Primary pulmonary hypertension 45
Pseudohypoaldosteronism type 2D 45
Rafiq syndrome 45
TNS1-related condition 45
Transcobalamin II deficiency 45
Woodhouse-Sakati syndrome 45
Acute myeloid leukemia 44
Alopecia universalis congenita 44
Amyotrophic lateral sclerosis type 8 44
Autosomal dominant keratitis 44
Autosomal dominant striatal neurodegeneration type 1 44
Complement component 3 deficiency 44
Dilated cardiomyopathy 1W 44
Distal arthrogryposis type 2B1 44
Familial infantile myasthenia 44
Hermansky-Pudlak syndrome 2 44
Herpes simplex encephalitis, susceptibility to, 1 44
Holoprosencephaly 3 44
Hyperekplexia 2 44
KIF26B-related condition 44
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 44
Li-Fraumeni syndrome 1 44
Meretoja syndrome 44
Methylmalonic aciduria, cblB type 44
Myopathy, proximal, and ophthalmoplegia 44
Ornithine carbamoyltransferase deficiency 44
Orthostatic hypotension 1 44
Pyruvate carboxylase deficiency 44
Short-rib thoracic dysplasia 6 with or without polydactyly 44
Arrhythmogenic right ventricular dysplasia 2 43
Autosomal recessive nonsyndromic hearing loss 3 43
Beare-Stevenson cutis gyrata syndrome 43
Branchiootic syndrome 1 43
Bronchiectasis with or without elevated sweat chloride 2 43
Brugada syndrome 8 43
COG5-congenital disorder of glycosylation 43
Cataract 14 multiple types 43
Charlevoix-Saguenay spastic ataxia 43
Congenital myasthenic syndrome 16 43
Cutis laxa, autosomal dominant 1 43
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 43
Epidermolysis bullosa dystrophica 43
Familial cancer of breast; Fanconi anemia complementation group J 43
Finnish congenital nephrotic syndrome 43
Giant axonal neuropathy 1 43
Glycogen storage disease IXb 43
HIVEP3-related condition 43
Hereditary angioedema type 1 43
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 43
Joubert syndrome 21 43
Meacham syndrome 43
Perry syndrome 43
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 43
Pseudohypoaldosteronism type 2E 43
QRICH2-related condition 43
Steel syndrome 43
Tietz syndrome 43
Tyrosinemia type I 43
Acyl-CoA oxidase deficiency 42
Adult-onset foveomacular vitelliform dystrophy 42
Alzheimer disease 42
Brooke-Spiegler syndrome 42
Brugada syndrome 5 42
Coffin-Siris syndrome 1 42
Crouzon syndrome 42
Cryopyrin associated periodic syndrome 42
Developmental and epileptic encephalopathy, 23 42
Ectodermal dysplasia and immunodeficiency 2 42
Familial cylindromatosis 42
Farber lipogranulomatosis 42
Hereditary xanthinuria type 1 42
Hermansky-Pudlak syndrome 1 42
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 42
Hypouricemia, renal, 2 42
NCOR2-related condition 42
PRRC2A-related condition 42
Qualitative or quantitative defects of delta-sarcoglycan 42
UBR4-related condition 42
Weaver syndrome 42
White sponge nevus 1 42
X-linked severe combined immunodeficiency 42
XIRP1-related condition 42
Abnormal esophagus morphology 41
Aortic valve disease 2 41
Autosomal dominant optic atrophy classic form 41
Brugada syndrome 1 41
Christianson syndrome 41
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 41
Cornelia de Lange syndrome 3 41
Dilated Cardiomyopathy, Recessive 41
Distal spinal muscular atrophy 41
Dystonia 24 41
Familial hypoparathyroidism 41
Fanconi anemia complementation group I 41
Focal segmental glomerulosclerosis 1 41
Glycogen storage disease, type VII 41
Hereditary hemochromatosis 41
History of neurodevelopmental disorder 41
Holoprosencephaly sequence 41
Hyperekplexia 3 41
Hypertrophic cardiomyopathy 4 41
Ichthyosis bullosa of Siemens 41
Joubert syndrome 25 41
LRRK1-related condition 41
Long QT syndrome 1 41
Maturity-onset diabetes of the young type 1 41
Mucopolysaccharidosis type 6 41
Otospondylomegaepiphyseal dysplasia, autosomal recessive 41
POLQ-related condition 41
Permanent neonatal diabetes mellitus 41
Primary ciliary dyskinesia 15 41
Pyropoikilocytosis, hereditary 41
Short QT syndrome type 2 41
Short-rib thoracic dysplasia 8 with or without polydactyly 41
Smith-Lemli-Opitz syndrome 41
Succinate-semialdehyde dehydrogenase deficiency 41
Thrombophilia due to thrombin defect 41
46,XY sex reversal 9 40
Abetalipoproteinaemia 40
Age related macular degeneration 4 40
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 40
Autosomal recessive limb-girdle muscular dystrophy type 2Q 40
Brachyolmia-amelogenesis imperfecta syndrome 40
Budd-Chiari syndrome 40
Candidiasis, familial, 9 40
Duane-radial ray syndrome 40
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 40
Epidermolysis bullosa simplex 5B, with muscular dystrophy 40
Epidermolysis bullosa simplex, Ogna type 40
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 40
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 40
Frontotemporal dementia 40
Glycogen storage disease IXa1 40
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 40
Hypercholesterolemia, autosomal dominant, type B 40
Hypomyelination and Congenital Cataract 40
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 40
Liddle syndrome 2 40
Nephronophthisis 14 40
Niemann-Pick disease, type B; Niemann-Pick disease, type A 40
Parathyroid carcinoma 40
Paroxysmal nonkinesigenic dyskinesia 1 40
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 40
Rothmund-Thomson syndrome type 2 40
Sick sinus syndrome 2, autosomal dominant 40
Vanishing white matter disease 40
Very long chain acyl-CoA dehydrogenase deficiency 40
Xeroderma pigmentosum variant type 40
Xeroderma pigmentosum, group C 40
ALG1-congenital disorder of glycosylation 39
Autosomal recessive limb-girdle muscular dystrophy type 2L 39
Beta-D-mannosidosis 39
Charcot-Marie-Tooth disease dominant intermediate C 39
Chondrodysplasia punctata, brachytelephalangic, autosomal 39
Congenital glucose-galactose malabsorption 39
Corneal dystrophy 39
Developmental and epileptic encephalopathy, 28 39
Epidermolysis bullosa simplex 5C, with pyloric atresia 39
Epidermolysis bullosa simplex with nail dystrophy 39
Familial multiple trichoepitheliomata 39
Hepatic veno-occlusive disease-immunodeficiency syndrome 39
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 39
Hereditary sensory and autonomic neuropathy with spastic paraplegia 39
Hereditary spastic paraplegia 3A 39
Hereditary spastic paraplegia 7 39
Hereditary spherocytosis type 3 39
IGSF10-related condition 39
ITPR3-related condition 39
Inflammatory bowel disease 28 39
LAMA5-related condition 39
Leber congenital amaurosis 4 39
MYO16-related condition 39
Macular degeneration 39
Mitochondrial complex IV deficiency, nuclear type 1 39
Miyoshi muscular dystrophy 3 39
Muscular dystrophy-dystroglycanopathy type B6 39
Myopathy, centronuclear, 2 39
Neural tube defect 39
Phenylketonuria 39
Protoporphyria, erythropoietic, 1 39
Severe early-childhood-onset retinal dystrophy 39
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 39
Townes syndrome 39
Andersen Tawil syndrome 38
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 38
Autosomal recessive spinocerebellar ataxia 12 38
Bilateral frontoparietal polymicrogyria 38
CELSR1-related condition 38
Charcot-Marie-Tooth Neuropathy X 38
Charcot-Marie-Tooth disease, type I 38
Choroidal dystrophy, central areolar 2 38
Cleidocranial dysostosis 38
Cone-rod dystrophy 12 38
Congenital Muscular Dystrophy, alpha-dystroglycan related 38
Cornelia de Lange syndrome 5 38
Corticosterone 18-monooxygenase deficiency 38
Corticosterone methyloxidase type 2 deficiency 38
Coxopodopatellar syndrome 38
Epidermolysis bullosa simplex due to plakophilin deficiency 38
FAT3-related condition 38
Generalized epilepsy-paroxysmal dyskinesia syndrome 38
Glutamate formiminotransferase deficiency 38
Gnathodiaphyseal dysplasia 38
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 38
Hypohidrotic X-linked ectodermal dysplasia 38
Intellectual disability, autosomal recessive 53 38
Isovaleryl-CoA dehydrogenase deficiency 38
Maturity-onset diabetes of the young type 11 38
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 38
Multiple sulfatase deficiency 38
Neuronopathy, distal hereditary motor, autosomal recessive 4 38
Osteogenesis imperfecta type 8 38
Pyruvate dehydrogenase E3 deficiency 38
Renal carnitine transport defect 38
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 38
Sorsby fundus dystrophy 38
Spondyloepiphyseal dysplasia with congenital joint dislocations 38
2-aminoadipic 2-oxoadipic aciduria 37
Amyotrophic lateral sclerosis type 6 37
Angiokeratoma corporis diffusum with arteriovenous fistulas 37
Argininosuccinate lyase deficiency 37
Arrhythmogenic right ventricular dysplasia 11 37
Atrioventricular septal defect 4 37
Autosomal dominant nonsyndromic hearing loss 17 37
Autosomal recessive limb-girdle muscular dystrophy type R18 37
Brugada syndrome 4 37
CSMD3-related condition 37
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 37
Cone-rod dystrophy 13; Leber congenital amaurosis 6 37
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 37
Congenital myopathy with fiber type disproportion 37
Doyne honeycomb retinal dystrophy 37
Hypogonadotropic hypogonadism 1 with or without anosmia 37
KCNQ1-related condition 37
Loeys-Dietz syndrome 37
Nephronophthisis 16 37
Noonan syndrome 37
Osteopetrosis 37
Progressive familial intrahepatic cholestasis type 1 37
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 37
Quebec platelet disorder 37
Saethre-Chotzen syndrome 37
Spinocerebellar ataxia type 35 37
Xeroderma pigmentosum, group F 37
3-Methylglutaconic aciduria type 3 36
Autosomal dominant aplasia and myelodysplasia 36
Autosomal recessive nonsyndromic hearing loss 18A 36
Basal laminar drusen 36
Cone-rod dystrophy 6; Leber congenital amaurosis 1 36
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 36
Ehlers-Danlos syndrome, kyphoscoliotic type 1 36
Focal segmental glomerulosclerosis 2 36
Focal segmental glomerulosclerosis 3, susceptibility to 36
Glycogen storage disease IXd 36
Glycogen storage disorder due to hepatic glycogen synthase deficiency 36
Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 36
Immunodeficiency, common variable, 10 36
Irido-corneo-trabecular dysgenesis 36
Joubert syndrome 17 36
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 36
Leukocyte adhesion deficiency 3 36
Loeys-Dietz syndrome 2 36
Medium-chain acyl-coenzyme A dehydrogenase deficiency 36
Megalencephalic leukoencephalopathy with subcortical cysts 36
Neurodegeneration with brain iron accumulation 4 36
Osteogenesis imperfecta type 7 36
Primary ciliary dyskinesia 23 36
Progressive familial intrahepatic cholestasis type 2 36
Pyruvate dehydrogenase E3-binding protein deficiency 36
Schimke immuno-osseous dysplasia 36
Short QT syndrome type 3 36
Short-rib thoracic dysplasia 13 with or without polydactyly 36
Sitosterolemia 1 36
Thrombocytopenia 36
Waardenburg syndrome type 2A 36
Adult-onset proximal spinal muscular atrophy, autosomal dominant 35
Arterial tortuosity syndrome 35
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 35
Bronchiectasis with or without elevated sweat chloride 1 35
CEDNIK syndrome 35
Carnitine palmitoyl transferase 1A deficiency 35
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 35
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 35
Congenital myasthenic syndrome 4A 35
Congenital stationary night blindness 1C 35
Deficiency of acetyl-CoA acetyltransferase 35
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 35
Developmental and epileptic encephalopathy, 33 35
Dyskinesia with orofacial involvement, autosomal dominant 35
FLNB-Related Spectrum Disorders 35
Factor H deficiency 35
Hereditary spastic paraplegia 33 35
Hyperalphalipoproteinemia 1 35
Idiopathic basal ganglia calcification 1 35
KCNJ12-related condition 35
Keratosis follicularis 35
Lymphatic malformation 6 35
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 35
Mucolipidosis type II 35
Multiple endocrine neoplasia type 4 35
NRAP-related condition 35
Neuronopathy, distal hereditary motor, type 7B 35
PLXND1-related condition 35
PXDNL-related condition 35
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 35
Syndromic X-linked intellectual disability 14 35
Tay-Sachs disease, variant AB 35
Ullrich congenital muscular dystrophy 1A 35
Van der Woude syndrome 1 35
White sponge nevus 2 35
carboxymethyl-dextran-A2-gadolinium-DOTA 35
Bartter disease type 4B 34
Capillary malformation-arteriovenous malformation syndrome 34
Catecholaminergic polymorphic ventricular tachycardia 2 34
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 34
Charcot-Marie-Tooth disease type 4B3 34
Combined oxidative phosphorylation defect type 8 34
Congenital myasthenic syndrome 5 34
DiGeorge syndrome 34
Epiphyseal dysplasia, multiple, 2 34
H syndrome 34
Hyperlipoproteinemia, type I 34
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 34
Hypoparathyroidism, deafness, renal disease syndrome 34
Interstitial lung disease due to ABCA3 deficiency 34
Joubert syndrome 1 34
Laryngo-onycho-cutaneous syndrome 34
Legius syndrome 34
Liddle syndrome 1 34
Metaphyseal chondrodysplasia, Schmid type 34
Mitochondrial trifunctional protein deficiency 34
Myofibrillar myopathy 6 34
Nephronophthisis 4 34
Neurodegeneration with brain iron accumulation 5 34
Orofacial cleft 6, susceptibility to 34
Pancreatic adenocarcinoma 34
SYNE1-related condition 34
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 34
Shprintzen-Goldberg syndrome 34
Sphingolipid activator protein 1 deficiency 34
ALG12-congenital disorder of glycosylation 33
Achromatopsia 33
Alzheimer disease 4 33
Aortic aneurysm, familial thoracic 8 33
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 33
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 33
Autosomal recessive distal renal tubular acidosis 33
Autosomal recessive distal spinal muscular atrophy 1 33
BIRC6-related condition 33
COL15A1-related condition 33
Combined oxidative phosphorylation defect type 17 33
Cranioectodermal dysplasia 2 33
Cystinuria 33
Diabetes insipidus, nephrogenic, autosomal 33
Epilepsy, familial adult myoclonic, 5 33
Familial hyperaldosteronism type III 33
Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 33
Hyper-IgM syndrome type 1 33
Immunodeficiency, common variable, 7 33
Lethal acantholytic epidermolysis bullosa 33
Lissencephaly 4 33
Mastocytosis 33
Methylmalonic acidemia with homocystinuria, type cblJ 33
Multiple congenital anomalies-hypotonia-seizures syndrome 2 33
Nephronophthisis-like nephropathy 1 33
Neutropenia, severe congenital, 2, autosomal dominant 33
Renal hypomagnesemia 4 33
SYNE2-related condition 33
Salla disease 33
Senior-Loken syndrome 4 33
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 33
Short-rib thoracic dysplasia 7 with or without polydactyly 33
Stickler syndrome type 1 33
Stickler syndrome type 2 33
Succinyl-CoA acetoacetate transferase deficiency 33
Temtamy preaxial brachydactyly syndrome 33
Woolly hair-skin fragility syndrome 33
Amelocerebrohypohidrotic syndrome 32
Arthrogryposis multiplex congenita 3, myogenic type 32
Autosomal dominant nonsyndromic hearing loss 12 32
Camptomelic dysplasia 32
Charcot-Marie-Tooth disease axonal type 2Z 32
Cutis laxa 32
Deficiency of malonyl-CoA decarboxylase 32
Epidermolysis bullosa simplex 32
Familial hemophagocytic lymphohistiocytosis 2 32
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 32
Hereditary pulmonary alveolar proteinosis 32
Hypomyelinating leukodystrophy 6 32
Immunodeficiency 32
Infantile spasms 32
Lethal congenital glycogen storage disease of heart 32
Limb-Girdle Muscular Dystrophy, Recessive 32
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 32
Martsolf syndrome; Warburg micro syndrome 2 32
Microcytic anemia 32
Mosaic variegated aneuploidy syndrome 1 32
Nephrotic syndrome, type 3 32
Noonan syndrome 4 32
PKD1L1-related condition 32
Pigmented paravenous retinochoroidal atrophy 32
Primary hyperoxaluria, type I 32
Renal hypomagnesemia 6 32
Rhizomelic chondrodysplasia punctata type 3 32
Timothy syndrome 32
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 31
Adenylosuccinate lyase deficiency 31
Aniridia 1 31
Autosomal recessive limb-girdle muscular dystrophy type 2C 31
Autosomal recessive nonsyndromic hearing loss 30 31
Autosomal recessive proximal renal tubular acidosis 31
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 31
CPZ-related condition 31
Carney complex, type 1 31
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 31
Childhood onset GLUT1 deficiency syndrome 2 31
Congenital muscular dystrophy due to partial LAMA2 deficiency 31
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 31
DNMBP-related condition 31
Dilated Cardiomyopathy, Dominant 31
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 31
Familial Candidiasis, Recessive 31
Fanconi anemia complementation group J 31
Fibrochondrogenesis 2 31
GLUT1 deficiency syndrome 1, autosomal recessive 31
Gaucher disease due to saposin C deficiency 31
Gray platelet syndrome 31
Hemochromatosis type 4 31
Hereditary cryohydrocytosis with reduced stomatin 31
Hereditary spastic paraplegia 31 31
Hyaline fibromatosis syndrome 31
Interstitial lung disease 2 31
King Denborough syndrome 31
Long QT syndrome 3 31
Melnick-Fraser syndrome 31
Microcephalic primordial dwarfism due to ZNF335 deficiency 31
Multiple synostoses syndrome 3 31
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 31
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 31
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 31
PREX2-related condition 31
Parkinsonism-dystonia, infantile 31
Primary ciliary dyskinesia 28 31
Retinitis pigmentosa 12; Leber congenital amaurosis 8 31
SPEN-related condition 31
Sialuria 31
Small fiber neuropathy 31
Telangiectasia, hereditary hemorrhagic, type 1 31
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 31
VPS13D-related condition 31
3-methylcrotonyl-CoA carboxylase 2 deficiency 30
3M syndrome 1 30
3MC syndrome 1 30
Adams-Oliver syndrome 1 30
Ataxia-telangiectasia-like disorder 1 30
Autosomal dominant limb-girdle muscular dystrophy type 1F 30
Autosomal recessive early-onset Parkinson disease 6 30
Autosomal recessive omodysplasia 30
Bartsocas-Papas syndrome 1 30
CPAMD8-related condition 30
Congenital myopathy with internal nuclei and atypical cores 30
Congenital stationary night blindness 1E 30
Dilated cardiomyopathy 1J 30
Epilepsy, familial focal, with variable foci 3 30
Glycogen storage disease, type VI 30
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 30
Gonadotropin-independent familial sexual precocity 30
Hypophosphatemic nephrolithiasis/osteoporosis 1 30
Inflammatory skin and bowel disease, neonatal, 1 30
LEOPARD syndrome 1 30
Leber congenital amaurosis 7 30
Lissencephaly 9 with complex brainstem malformation 30
Metachondromatosis 30
Mucopolysaccharidosis, MPS-III-D 30
Multiple congenital exostosis 30
NLRP2-related condition 30
Paragangliomas 5 30
Peroxisome biogenesis disorder, complementation group K 30
Pigmentary retinal dystrophy 30
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 30
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 30
Stromme syndrome 30
Vitamin K-dependent clotting factors, combined deficiency of, type 1 30
Walker-Warburg congenital muscular dystrophy 30
X-linked Alport syndrome 30
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 29
3-methylcrotonyl-CoA carboxylase 1 deficiency 29
ANK3-related condition 29
Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 29
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 29
Arrhythmogenic right ventricular dysplasia 5 29
Aspartylglucosaminuria 29
Baraitser-Winter syndrome 1 29
Batten-Turner congenital myopathy 29
CEP170B-related condition 29
Café-au-lait macules with pulmonary stenosis 29
Cayman type cerebellar ataxia 29
Charcot-Marie-Tooth disease axonal type 2P 29
Charcot-Marie-Tooth disease type 4B2 29
Combined oxidative phosphorylation defect type 27 29
Congenital afibrinogenemia 29
Congenital ichthyosis of skin 29
DHX34-related condition 29
DNA ligase IV deficiency 29
Developmental and epileptic encephalopathy, 34 29
Developmental and epileptic encephalopathy, 8 29
Diabetes mellitus, transient neonatal, 3 29
Dubin-Johnson syndrome 29
Epilepsy, idiopathic generalized, susceptibility to, 12 29
Familial adenomatous polyposis 2 29
Familial infantile myoclonic epilepsy 29
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 29
Hepatic methionine adenosyltransferase deficiency 29
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 29
Hereditary acrodermatitis enteropathica 29
Hereditary spherocytosis type 4 29
Heterotaxy, visceral, 8, autosomal 29
Hypercholanemia, familial 1 29
Hypophosphatasia 29
Iodotyrosyl coupling defect 29
Kabuki syndrome 1 29
Matthew-Wood syndrome 29
Methylmalonate semialdehyde dehydrogenase deficiency 29
Neuronal ceroid lipofuscinosis 1 29
Neuronal ceroid lipofuscinosis 7 29
OTOG-related condition 29
PTPRT-related condition 29
Pendred syndrome 29
Primary familial hypertrophic cardiomyopathy 29
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 29
Purine-nucleoside phosphorylase deficiency 29
RFT1-congenital disorder of glycosylation 29
Warburg micro syndrome 3 29
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 29
X-linked intellectual disability Cabezas type 29
ALG6-congenital disorder of glycosylation 1C 28
Aromatase deficiency 28
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 28
Autosomal recessive osteopetrosis 5 28
Brown-Vialetto-van Laere syndrome 1 28
Cataract 28
Cerebral cavernous malformation 28
Citrullinemia type I 28
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 28
Compton-North congenital myopathy 28
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 28
DSCAML1-related condition 28
Desmin-related myofibrillar myopathy 28
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 28
Eichsfeld type congenital muscular dystrophy 28
Erythrokeratodermia variabilis et progressiva 1 28
Fanconi anemia complementation group C 28
Fanconi anemia complementation group D1 28
Fanconi-Bickel syndrome 28
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 28
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 28
Immunodeficiency due to CD25 deficiency 28
Juvenile myelomonocytic leukemia 28
Left ventricular noncompaction 1 28
Mucolipidosis type IV 28
NAV2-related condition 28
Oxoglutaricaciduria 28
Peroxisome biogenesis disorder 1A (Zellweger) 28
Peroxisome biogenesis disorder 7A (Zellweger) 28
Predisposition to invasive fungal disease due to CARD9 deficiency 28
RECQL5-related condition 28
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 28
Syndromic X-linked intellectual disability Raymond type 28
Torsion dystonia 4 28
Waardenburg syndrome 28
ALPK3-related condition 27
ANKRD1-related dilated cardiomyopathy 27
Achondrogenesis, type IB 27
Atelosteogenesis type II 27
Beckwith-Wiedemann syndrome 27
Bifunctional peroxisomal enzyme deficiency 27
Bullous ichthyosiform erythroderma 27
COG7 congenital disorder of glycosylation 27
CUL9-related condition 27
Cerebroretinal microangiopathy with calcifications and cysts 1 27
Congenital brain dysgenesis due to glutamine synthetase deficiency 27
Deficiency of steroid 11-beta-monooxygenase 27
Diaphanospondylodysostosis 27
Dystonia 5 27
FOCAD-related condition 27
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 27
Hemolytic anemia 27
Hereditary hyperinsulinism 27
Hermansky-Pudlak syndrome 3 27
Hyperglycinuria 27
Hypertrophic cardiomyopathy 2 27
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 27
Intellectual disability, autosomal dominant 20 27
Juvenile onset Parkinson disease 19A 27
LRIG1-related condition 27
Microcephaly 1, primary, autosomal recessive 27
Myasthenic syndrome, congenital, 22 27
Myosclerosis 27
Noonan syndrome-like disorder with loose anagen hair 1 27
PMM2-congenital disorder of glycosylation 27
Pitt-Hopkins-like syndrome 27
Polymorphous corneal dystrophy 27
Premature ovarian failure 15 27
Pyruvate dehydrogenase complex deficiency 27
Severe myoclonic epilepsy in infancy 27
Stargardt disease 4 27
Surfactant metabolism dysfunction, pulmonary, 2 27
Tumor predisposition syndrome 3 27
VACTERL association, X-linked, with or without hydrocephalus 27
Van der Woude syndrome 2 27
Wiskott-Aldrich syndrome 27
Xeroderma pigmentosum, group G 27
beta Thalassemia 27
Alzheimer disease 3 26
Arginine:glycine amidinotransferase deficiency 26
Ataxia-telangiectasia-like disorder 26
Atypical hemolytic-uremic syndrome with I factor anomaly 26
Autosomal recessive ataxia due to ubiquinone deficiency 26
Autosomal recessive congenital ichthyosis 1 26
Autosomal recessive limb-girdle muscular dystrophy type 2K 26
Bardet-Biedl syndrome 12 26
Bardet-Biedl syndrome 9 26
Bietti crystalline corneoretinal dystrophy 26
Brachydactyly type A1 26
Cardiomyopathy, familial restrictive, 3 26
Cataract 5 multiple types 26
Cerebral cavernous malformation 2 26
Charcot-Marie-Tooth disease type 4D 26
Congenital disorder of deglycosylation 26
Cowden syndrome 6 26
Diabetes insipidus, nephrogenic, X-linked 26
Diastrophic dysplasia 26
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 26
Dilated cardiomyopathy 1D 26
Distal hereditary motor neuropathy type 2 26
Dyskinesia with orofacial involvement, autosomal recessive 26
Epilepsy 26
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 26
Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 26
Familial juvenile hyperuricemic nephropathy type 1 26
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 26
Griscelli syndrome type 2 26
Hereditary factor VIII deficiency disease 26
Hereditary fructosuria 26
Hereditary spastic paraplegia 28 26
Hereditary spastic paraplegia 8 26
Hypogonadotropic hypogonadism 2 with or without anosmia 26
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 26
Ichthyosis, hystrix-like, with hearing loss 26
Immunodeficiency 39 26
Immunodeficiency 67 26
Inherited prion disease 26
Intellectual disability, autosomal recessive 42 26
Joubert syndrome 14 26
Leber congenital amaurosis 3 26
Malignant tumor of prostate 26
Metaphyseal anadysplasia 26
Mitochondrial DNA depletion syndrome 8a 26
Mucopolysaccharidosis type 7 26
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 26
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 26
Neuronal ceroid lipofuscinosis 2 26
Neuropathy, hereditary sensory, type 1F 26
PITRM1-related condition 26
Premature ovarian failure 2B 26
Primary ciliary dyskinesia 6 26
Primary open angle glaucoma 26
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 26
Progressive myositis ossificans 26
Pseudo-Hurler polydystrophy 26
SHROOM2-related condition 26
Spinocerebellar ataxia type 11 26
Systemic lupus erythematosus 26
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 26
YTHDC2-related condition 26
ARFGEF3-related condition 25
ATAD5-related condition 25
Acyl-CoA dehydrogenase 9 deficiency 25
Anophthalmia-microphthalmia syndrome 25
Arthrogryposis, distal, with impaired proprioception and touch 25
Autosomal recessive Robinow syndrome 25
Autosomal recessive limb-girdle muscular dystrophy type 2F 25
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 25
Axenfeld-Rieger syndrome type 1 25
Bartter disease type 3 25
Breast-ovarian cancer, familial, susceptibility to, 4 25
Brody myopathy 25
Cenani-Lenz syndactyly syndrome 25
Charcot-Marie-Tooth disease type 2D 25
Charcot-Marie-Tooth disease type 4F 25
Citrin deficiency 25
Citrullinemia 25
Combined PSAP deficiency 25
Cone-rod dystrophy 11 25
Congenital defect of folate absorption 25
Craniosynostosis 2 25
Dent disease type 1 25
Developmental malformations-deafness-dystonia syndrome 25
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 25
Dystonia 16 25
Factor 5 and Factor VIII, combined deficiency of, 2 25
Familial encephalopathy with neuroserpin inclusion bodies 25
Familial hemophagocytic lymphohistiocytosis 4 25
Fanconi anemia complementation group E 25
Glomuvenous malformation 25
Glucocorticoid deficiency 1 25
Glycogen storage disease, type IV 25
Growth delay due to insulin-like growth factor type 1 deficiency 25
Hereditary spastic paraplegia 30 25
Inclusion body myopathy and brain white matter abnormalities 25
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 25
Intestinal hypomagnesemia 1 25
Isolated microphthalmia 5 25
Lethal polymalformative syndrome, Boissel type 25
Li-Fraumeni syndrome 25
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 25
Lymphoproliferative syndrome 1 25
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 25
Multicentric osteolysis nodulosis arthropathy spectrum 25
Muscle AMP deaminase deficiency 25
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 25
Myoglobinuria, acute recurrent, autosomal recessive 25
NUP188-related condition 25
Neurogenic scapuloperoneal syndrome, Kaeser type 25
PITX2-Related Eye Abnormalities 25
Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 25
Perrault syndrome 1 25
Renal cysts and diabetes syndrome 25
Ring dermoid of cornea 25
Schnyder crystalline corneal dystrophy 25
Seckel syndrome 5 25
Severe combined immunodeficiency due to IKK2 deficiency 25
Sitosterolemia 25
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 25
Tay-Sachs disease 25
Three Vessel Coronary Disease 25
ATP2A3-related condition 24
Achromatopsia 3 24
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 24
Atypical hemolytic-uremic syndrome with B factor anomaly 24
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 24
Autosomal dominant nonsyndromic hearing loss 10 24
Autosomal dominant nonsyndromic hearing loss 5 24
Autosomal recessive nonsyndromic hearing loss 9 24
Cataract 12 multiple types 24
Caveolinopathy 24
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 24
Charcot-Marie-Tooth disease X-linked dominant 6 24
Charcot-Marie-Tooth disease axonal type 2N 24
Charcot-Marie-Tooth disease type 1C 24
Cholestanol storage disease 24
DHX37-related condition 24
DNAH7-related condition 24
Deafness-lymphedema-leukemia syndrome 24
Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 24
Deficiency of butyryl-CoA dehydrogenase 24
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 24
Ectopia lentis 2, isolated, autosomal recessive 24
Epidermolysis bullosa dystrophica inversa, autosomal recessive 24
Fabry disease 24
Familial pulmonary capillary hemangiomatosis 24
Fanconi anemia complementation group B 24
Focal segmental glomerulosclerosis 8 24
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 24
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 24
Gordon syndrome 24
Hirschsprung disease, susceptibility to, 1 24
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 24
Hypercalcemia, infantile, 1 24
Hypercholesterolemia, familial, 4 24
Hyperparathyroidism 2 with jaw tumors 24
Hypobetalipoproteinemia 24
Inherited Erythromelalgia 24
Jervell and Lange-Nielsen syndrome 2 24
Joubert syndrome 15 24
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 24
LEOPARD syndrome 2 24
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 24
Maple syrup urine disease type 1A 24
Marden-Walker syndrome 24
Maturity-onset diabetes of the young type 3 24
Merosin deficient congenital muscular dystrophy 24
Methylmalonic aciduria and homocystinuria type cblF 24
Microcytic anemia with liver iron overload 24
Mucopolysaccharidosis, MPS-III-C 24
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 24
Multiple synostoses syndrome 2 24
NLRP5-related condition 24
Neuropathy, hereditary sensory and autonomic, type 2A 24
Neuropathy, hereditary sensory, type 1D 24
Neutral lipid storage myopathy 24
Ornithine aminotransferase deficiency 24
PHGDH deficiency 24
PTPRS-related condition 24
Peroxisome biogenesis disorder 12A (Zellweger) 24
Peroxisome biogenesis disorder 9B 24
Primary ciliary dyskinesia 13 24
Primary ciliary dyskinesia 32 24
Primary familial polycythemia due to EPO receptor mutation 24
REV3L-related condition 24
SHROOM3-related condition 24
SLC28A1-related condition 24
Sarcoglycanopathy 24
Seckel syndrome 4 24
Senior-Loken syndrome 6 24
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 24
Short-rib thoracic dysplasia 11 with or without polydactyly 24
Spinocerebellar ataxia 45 24
Spinocerebellar ataxia type 19/22 24
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 24
Sterile multifocal osteomyelitis with periostitis and pustulosis 24
Surfactant metabolism dysfunction, pulmonary, 4 24
Torsion dystonia 6 24
Triglyceride storage disease with ichthyosis 24
ZAP70-Related Severe Combined Immunodeficiency 24
3-methylglutaconic aciduria, type VIIB 23
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 23
ANO5-Related Muscle Diseases 23
Adult-onset autosomal dominant demyelinating leukodystrophy 23
Agammaglobulinemia 2, autosomal recessive 23
Amelogenesis imperfecta type 1A 23
Amyotrophic lateral sclerosis type 11 23
Asphyxiating thoracic dystrophy 4 23
Autosomal recessive limb-girdle muscular dystrophy type 2N 23
CDKL5 disorder 23
COL6A3-related condition 23
Chondrodysplasia with joint dislocations, gPAPP type 23
Classic homocystinuria 23
Congenital central hypoventilation 23
Congenital hereditary endothelial dystrophy of cornea 23
Cranioectodermal dysplasia 4 23
D-2-hydroxyglutaric aciduria 2 23
Dermatofibrosis lenticularis disseminata 23
Dihydropteridine reductase deficiency 23
Dyskeratosis congenita, autosomal recessive 5 23
EAST syndrome 23
Episodic ataxia type 2 23
FCSK-related condition 23
Familial spontaneous pneumothorax 23
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 23
Generalized pustular psoriasis 23
Hemochromatosis type 3 23
Hereditary spastic paraplegia 2 23
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 23
Hermansky-Pudlak syndrome 5 23
Herpes simplex encephalitis, susceptibility to, 3 23
Hypertrophic cardiomyopathy 19 23
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 23
Juvenile myoclonic epilepsy 23
KMT2C-related condition 23
Klippel-Feil syndrome 1, autosomal dominant 23
Kufor-Rakeb syndrome 23
Long QT syndrome 5 23
Lysinuric protein intolerance 23
MACF1-related condition 23
Maturity-onset diabetes of the young type 7 23
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 23
NFATC1-related condition 23
NOS1-related condition 23
Nemaline myopathy 10 23
Nephrolithiasis/nephrocalcinosis 23
Niemann-Pick disease, type A 23
Nonsyndromic genetic hearing loss 23
PIK3C2B-related condition 23
PPP2R3A-related condition 23
Parietal foramina 1 23
Peroxisome biogenesis disorder 5A (Zellweger) 23
Primary ciliary dyskinesia 33 23
Primary hyperoxaluria, type II 23
Renal tubular acidosis with progressive nerve deafness 23
Renal-hepatic-pancreatic dysplasia 1 23
Retinitis Pigmentosa, Recessive 23
Spondyloepiphyseal dysplasia congenita 23
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 23
Syndromic intellectual disability 23
TTC21A-related condition 23
Thrombophilia due to protein S deficiency, autosomal recessive 23
Tumoral calcinosis, hyperphosphatemic, familial, 3 23
Tyrosinase-positive oculocutaneous albinism 23
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 22
Acute intermittent porphyria 22
Acute lymphoid leukemia 22
Alkaptonuria 22
Alpha-1-antitrypsin deficiency 22
Amyotrophic lateral sclerosis type 2, juvenile 22
Arthrogryposis, distal, type 2B3 22
Asphyxiating thoracic dystrophy 5 22
Atrial fibrillation, familial, 7 22
Autosomal dominant hypophosphatemic rickets 22
Autosomal dominant vitreoretinochoroidopathy 22
Axenfeld-Rieger syndrome type 3 22
Bardet-Biedl syndrome 14 22
Cerebrooculofacioskeletal syndrome 1 22
Charcot-Marie-Tooth disease type 4B1 22
Chilblain lupus 2 22
Cockayne syndrome type 2 22
Congenital disorder of glycosylation type Ir 22
Congenital glaucoma 22
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 22
Contractures, pterygia, and variable skeletal fusions syndrome 1B 22
Deficiency of aromatic-L-amino-acid decarboxylase 22
Developmental and epileptic encephalopathy, 25 22
EEM syndrome 22
Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 22
Fructose-biphosphatase deficiency 22
Gaze palsy, familial horizontal, with progressive scoliosis 1 22
Glutaric aciduria, type 1 22
Glycogen storage disease due to muscle beta-enolase deficiency 22
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 22
Hereditary angioedema type 3 22
Hereditary spastic paraplegia 51 22
Hyperekplexia 22
IQCE-related condition 22
Infantile neuroaxonal dystrophy 22
Isolated microphthalmia 2 22
Joubert syndrome 9 22
Maturity-onset diabetes of the young type 13 22
Maturity-onset diabetes of the young type 2 22
Metaphyseal chondrodysplasia, Jansen type 22
Methylmalonic aciduria, cblA type 22
Migraine, familial hemiplegic, 3 22
Myoclonic dystonia 11 22
Myofibrillar myopathy 3 22
NCOR1-related condition 22
Nephrotic syndrome, type 4 22
Neuroblastoma, susceptibility to, 2 22
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 22
PGM1-congenital disorder of glycosylation 22
PRR12-related condition 22
Peripheral neuropathy 22
Pontocerebellar hypoplasia type 6