ClinVar Miner

Variants reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37933
Total variants unanimously reported as likely pathogenic: 26927

Breakdown by submitter #

Total submitters: 565
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Submitter Variants
Counsyl 8014
GeneDx 7843
Invitae 3243
Ambry Genetics 1965
Integrated Genetics/Laboratory Corporation of America 1293
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1117
Database of Curated Mutations (DoCM) 1114
CeGaT Praxis fuer Humangenetik Tuebingen 853
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 827
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 804
LDLR-LOVD, British Heart Foundation 789
Genetic Services Laboratory, University of Chicago 687
ISCA site 1 524
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 485
NIHR Bioresource Rare Diseases,University of Cambridge 400
Center for Human Genetics, Inc 393
Center for Medical Genetics Ghent,University of Ghent 382
Color 381
Illumina Clinical Services Laboratory,Illumina 366
Quest Diagnostics Nichols Institute San Juan Capistrano 364
Centre for Mendelian Genomics,University Medical Centre Ljubljana 315
Athena Diagnostics Inc 314
Fulgent Genetics 309
Genomic Research Center,Shahid Beheshti University of Medical Sciences 285
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 257
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 257
Blueprint Genetics, 250
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 217
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 206
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 201
SIB Swiss Institute of Bioinformatics 201
Department of Psychiatry,Nagoya University 195
Gharavi Laboratory,Columbia University 192
Stanford Center for Inherited Cardiovascular Disease,Stanford University 186
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 181
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 179
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 173
Baylor Miraca Genetics Laboratories, 170
PreventionGenetics 166
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 165
Molecular Diagnostics Laboratory,M Health: University of Minnesota 160
Robarts Research Institute,Western University 154
Mendelics 153
UCLA Clinical Genomics Center, UCLA 152
University of Washington Center for Mendelian Genomics,University of Washington 130
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 127
NeuroMeGen,Hospital Clinico Santiago de Compostela 125
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 122
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 104
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 103
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 100
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 99
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 98
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 98
Institute of Human Genetics,Klinikum rechts der Isar 94
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 90
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 90
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 83
HudsonAlpha Institute for Biotechnology 78
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 78
Fundacion Hipercolesterolemia Familiar 77
Undiagnosed Diseases Network,NIH 75
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 74
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 73
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 71
Division of Human Genetics,Children's Hospital of Philadelphia 70
Department of Pathology and Laboratory Medicine,Sinai Health System 70
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 66
GeneReviews 65
Department of Ophthalmology and Visual Sciences Kyoto University 65
Center of Genomic medicine, Geneva,University Hospital of Geneva 63
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 62
Yale Center for Mendelian Genomics,Yale University 59
Department of Zoology Govt. MVM College 58
Knight Diagnostic Laboratories,Oregon Health and Sciences University 58
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 56
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 55
University of Washington Department of Laboratory Medicine,University of Washington 54
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 53
CSER_CC_NCGL; University of Washington Medical Center 52
Broad Institute Rare Disease Group,Broad Institute 51
GeneKor MSA 50
Laboratoire de Cytogenetique,Hospices Civils de Lyon 50
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 49
ClinGen PAH Variant Curation Expert Panel, 49
ISCA site 6 48
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 48
Sharing Clinical Reports Project (SCRP) 46
CHU Sainte-Justine Research Center,University of Montreal 46
Laboratory of Molecular Genetics,CHU RENNES 45
Inserm U 954, Faculté de Médecine de Nancy 44
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 43
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 43
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 43
Center for Human Genetics,University of Leuven 41
Institute of Human Genetics,Cologne University 38
Centre for Genomic and Experimental Medicine,University of Edinburgh 37
Iberoamerican FH Network 37
Genome Sciences Centre,British Columbia Cancer Agency 36
Department of Genetics,Sultan Qaboos University Hospital, Oman 36
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 34
Center for Genetic Medicine Research,Children's National Medical Center 33
Department of Molecular Diagnostics,Institute of Oncology 32
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 31
Medical Genetics,University of Parma 31
Richard Lifton Laboratory, Yale University School of Medicine 30
Department of Medical Genetics,Oslo University Hospital 30
Institute of Human Genetics,University of Wuerzburg 30
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 30
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 29
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 28
Neurogenetics Laboratory - MEYER,AOU Meyer 26
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 25
SingHealth Duke-NUS Institute of Precision Medicine 25
Uitto Lab,Thomas Jefferson University 25
Liping Wei Laboratory,Peking University 24
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 23
Chan Lab,Boston Children's Hospital 22
Institute for Ophthalmic Research,University Tuebingen 22
ClinGen PTEN Variant Curation Expert Panel 22
Claritas Genomics 21
ClinVar Staff, National Center for Biotechnology Information (NCBI) 21
Shaikh Laboratory, University of Colorado 21
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 20
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 20
Institute of Human Genetics,University of Goettingen 19
Endocrinology Clinic, Seth G.S. Medical College 19
Familial Cancer Clinic,Veneto Institute of Oncology 19
Dr. Guy Rouleau's laboratory,McGill University 19
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 19
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 19
Genetic Diseases Diagnostic Center,Koc University Hospital 19
Biochemistry Laboratory of CDMU,Chengde Medical University 19
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 18
GeneID Lab - Advanced Molecular Diagnostics 18
Eye Genetics Research Group,Children's Medical Research Institute 17
RettBASE 17
Medical Research Institute,Tokyo Medical and Dental University 17
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 17
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 17
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 17
Center for Human Disease Modeling,Duke University Medical Center 16
Human Genetics - Radboudumc,Radboudumc 16
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 16
Tehran Medical Genetics Laboratory 16
Clinical Genomics Lab,St. Jude Children's Research Hospital 16
Human Genetics Group at Institute of Prion Diseases London,University College London 16
GenePathDx,Causeway Health Care Private Ltd 15
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 15
Wessex Regional Genetics Laboratory,Salisbury District Hospital 15
Hehr Laboratory,Center for Human Genetics - University of Regensburg 14
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 14
ISCA site 4 14
Deafness Gene Diagnosis,Xijing Hospital 14
Dobyns Lab,Seattle Children's Research Institute 14
Translational Genomics Laboratory,University of Maryland School of Medicine 14
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 14
TIDEX,University of British Columbia 14
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 13
Laboratory of Human Genetics,Universidade de São Paulo 13
UW Hindbrain Malformation Research Program,University of Washington 13
Section on Medical Neuroendocrinolgy,National Institutes of Health 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 12
Bristol Genetics Laboratory - North Bristol NHS Trust,Southmead Hospital - Pathology Sciences 12
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 12
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 12
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 12
Pathway Genomics 11
Institute for Integrative and Experimental Genomics,University of Luebeck 11
Rare Disease Group, Clinical Genetics,Karolinska Institutet 11
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 11
Wendy Chung Laboratory,Columbia University Medical Center 11
Laboratory of Medical Genetics,University of Torino 11
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 10
Clinical Genetics, Erasmus University Medical Center 10
Genetics,Medical University of Vienna 10
Dan Cohn Lab,University Of California Los Angeles 10
ClinGen RASopathy Variant Curation Expert Panel, 10
Albrecht-Kossel-Institute,Medical University Rostock 9
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 9
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 9
Molecular Endocrinology Laboratory,Poznan University of Medical Sciences 9
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 9
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 9
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 9
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 9
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 8
Sema4,Sema4 8
Willoughby Group, Queen's University Belfast 8
Centre for Translational Omics - GOSgene,University College London 8
Center for Individualized Medicine,Mayo Clinic 8
Medizinische Klinik 1/ Institut für Bioinformatik,Universitätsklinikum Großhadern, München/ Helmholtz Zentrum München 8
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 8
Paul Sabatier University EA-4555, Paul Sabatier University 8
Dr. Peter K. Rogan Lab,Western University 8
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 8
Santos-Cortez Lab,University of Colorado School of Medicine 8
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 8
Molecular Biology Laboratory,University of Basrah 8
Biesecker Lab/Human Development Section,National Institutes of Health 7
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 7
Elahi Laboratory, University of Tehran 7
Northcott Neuroscience Laboratory, ANZAC Research Institute 7
Cytogenetics and Genomics Laboratory,University of Washington 7
National Institute of Mental Health and Neurosciences 7
Hadassah Hebrew University Medical Center 7
Muenke lab,National Institutes of Health 7
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 7
Hardcastle Lab,UCL Institute of Ophthalmology 7
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 7
ClinGen Hearing Loss Variant Curation Expert Panel, 7
PALB2 database 6
Molecular Genetics Laboratory; Baylor College of Medicine 6
ISCA site 14 6
GOLD service, Hunter New England Health 6
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 6
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 6
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 6
Centre of Medical Genetics, University of Antwerp 6
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 6
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 6
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 6
ARUP Institute,ARUP Laboratories 6
Phosphorus, Inc. 6
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 6
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 6
Caldovic Lab,Children's National Health System 6
Dept. of Medical Genetics, Telemark Hospital Trust 6
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 5
SNPedia 5
George Lab Vanderbilt University 5
Reutter Lab, Institute of Human Genetics,University Hospital Bonn 5
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 5
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde,INSERM - Université Paul Sabatier 5
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 5
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 5
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 5
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 5
Snyder Lab, Genetics Department,Stanford University 5
Department of Immunology,University Hospital Southampton NHSFT 5
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 5
True Health Diagnostics 5
Institute for Genomic Medicine, Nationwide Children's Hospital 5
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 5
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 5
ClinGen CDH1 Variant Curation Expert Panel 5
Molecular Genetics Laboratory,University Hospital Copenhagen 5
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 4
PXE International 4
Laboratorio de Genetica Humana; Universidad de los Andes 4
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 4
Science and Research Branch, Islamic Azad University,Islamic Azad University 4
Cytogenetics Laboratory,Banaras Hindu University 4
Molecular and Medical Genetics Group,King's College London 4
Department of Prenatal Diagnosis, Center for Genetic Medicine,Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University 4
Bioinformatics dept.,Datar Cancer Genetics Limited, India 4
Geschwind lab,University of California Los Angeles 4
Department of Ophthalmology,Flinders University 4
Department of Medical Genetics,University Hospital of North Norway 4
Centre for Genomic Sciences,University of Hong Kong 4
Kasturba Medical College,Manipal University 4
Institute of Medical Genetics,University of Zurich 4
Computational Biology Unit,University of Bari 4
Epi4K Consortium 4
Department of Neurology,Taipei Veterans General Hospital 4
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 4
Dept of Genetics,Assistance Publique-Hôpitaux de Paris (APHP) - R DEBRE University Hospital 4
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 4
The Raphael Recanati Genetics Institute,Rabin Medical Center 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 4
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 3
Division Human Genetics,Medical University Innsbruck 3
ISCA site 15 3
James Howe Lab,University of Iowa Hospital and Clinics 3
University of British Columbia 3
Service de Génétique Moléculaire,Hôpital Robert Debré 3
Clinical Genetics Research Group, University of Calgary 3
Department of Internal Medicine, University of Texas Health Science Center at Houston 3
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 3
Centro de Genética y Biología Molecular,Universidad de San Martín de Porres 3
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 3
Aziz Sancar Institute of Experimental Medicine,Istanbul University 3
Genetic Diagnostic Laboratory,University of Szeged 3
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 3
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 3
Weber Lab,Hannover Medical School 3
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 3
Daryl Scott Lab,Baylor College of Medicine 3
Institute of Basic Medical Sciences,Khyber Medical University, Peshawar 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3
Kariminejad - Najmabadi Pathology & Genetics Center 3
Genetics Department,University Hospital of Toulouse 3
Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants 3
Kahle Lab,Yale University 3
3DMed Clinical Laboratory Inc 3
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 3
Kids Research,The Children's Hospital at Westmead 3
OMIM 2
Gleeson Lab,University of California San Diego - Department of Neuroscience 2
Elsea Laboratory,Baylor College of Medicine 2
Michigan Medical Genetics Laboratories,University of Michigan 2
MVZ Dortmund,Dr. Eberhard & Partner 2
Institute for Genetics of Heart Diseases, University Hospital Muenster 2
ITMI 2
Molecular Genetics and Enzymology, National Research Centre 2
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 2
Genomics and Pathology Services,Washington University in St.Louis 2
Department of Breast and Endocrine Surgery,Kumamoto University 2
TilsonLab,Columbia University 2
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 2
U955 Equipe 11,INSERM 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 2
Department of Hematology,University of Health Sciences 2
Department of Medical Biology, Academic Medical Center 2
Center for Molecular Medicine,Karolinska Institute 2
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 2
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 2
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 2
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 2
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 2
Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital 2
Rui Chen Lab,Baylor College of Medicine 2
Kangwon National University Hospital 2
National Research Council,Institute of Genetics and Biomedical Research 2
Department of Endocrinology,The Affiliated hospital of QingDao University 2
Diagnostic Laboratory,Strasbourg University Hospital 2
Clinics for Rare Diseases Referral (Hong Kong),The University of Hong Kong 2
Thoracic and Gastrointestinal Oncology Branch/CCR/NCI,NIH 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 2
Hereditary Hearing Loss Research Unit,University of Madras 2
Kamineni Academy of Medical Sciences & Research Centre,Kamineni Hospitals 2
MVZ Praenatalmedizin und Genetik Nuernberg 2
The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan University 2
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 2
KK Women’s and Children’s Hospital 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2
Genome.One 2
Biotechnology Research Center,Pasteur Institute of Iran 2
UMR-S1161,Institut national de la santé et de la recherche médicale 2
Department of Pathology and Molecular Medicine,Queen's University 2
Molecular Oncology Laboratory,Hospital Clínico San Carlos 2
Laboratoire de Genetique Biologique, CHU de Poitiers 2
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 2
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 2
Antonellis Laboratory at Michigan,University of Michigan 2
Hemoglobin and Genome Lab,University of Campinas 2
SBielas Lab, Department of Human Genetics,University of Michigan 2
Laboratoire de cytogenetique,Hopital Necker-Enfants Malades 2
Clinical laboratory, Wuhan Children’s Hospital,Tongji Medical College, Huazhong University of Science and Technology 2
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 2
Genetics Division,Universidade Federal de Sao Paulo 2
Degerman lab,Umeå University 2
Department of Endocrinology,Sir Run Run Shaw Hospital 2
Medical Genetics Clinic,Mersin Women and Children Hospital 2
Department of Pathology and Genetics,University of Gothenburg 2
Pediatric Genomics Discovery Program,Yale University 2
Precision Medicine Oncology,Rutgers Cancer Institute of New Jersey 2
Fan Lab,Zhengzhou University 2
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 2
Neuromuscular Group,Huashan Hospital, Fudan University 2
IRCCS Fondazione Stella Maris,University of Pisa 2
Medical Genetics Unit,University of L'Aquila 2
Stewart Lab,University of Birmingham 2
Human Genetics Laboratory,Faculty of Medicine of Tunis 2
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 2
Knight Cancer Institute,Oregon Health and Science University 2
Department of Biotechnology and Microbiology,Karnatak University Dharwad 2
Core Molecular Diagnostic Lab,McGill University Health Centre 2
Institute of Clinical Molecular Biology,Kiel University 2
Flatmark laboratory,Institute for Cancer Research, Oslo University Hospital 2
Institute for Human Genetics,University Clinic Freiburg 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1
King Laboratory,University of Washington 1
Neurogenetics Department,Cyprus Institute of Neurology and Genetics 1
Molecular Diagnostics Laboratory,Hospital Sainte-Justine 1
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 1
SEALS Genetics Laboratory,South Eastern Area Laboratory Services, NSW Health Pathology 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1
Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences 1
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 1
Guangxi Key laboratory of Metabolic Diseases Research; Guilin 181st Hospital 1
UniProtKB/Swiss-Prot 1
Human Genetics Research Centre, St George's University of London 1
Rademakers Lab,Mayo Clinic 1
Evolutionary and Medical Genetics Laboratory,Center for Cellular and Molecular Biology 1
Genologica Medica 1
Department of Clinical Science, University of Bergen 1
Laboratoire de Biologie Moléculaire,Centre Hospitalo-Universitaire 1
ISCA site 3 1
ISCA site 8 1
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 1
Akiko Shimamura Lab,Fred Hutchinson Cancer Research Center 1
Department of Paediatric Surgery,The Canberra Hospital 1
Department of Endocrinology and Metabolism,The First Affiliated Hospital of Sun Yet-sen University 1
E. Rossignol Lab,CHU Ste-Justine, Universite de Montreal 1
Karolinska institutet 1
Molecular Genetic Center,Genetaq 1
Abrahams Lab,Albert Einstein College of Medicine 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1
Kariminejad-Najmabadi Pathology and Genetics Center,KNPGC 1
Center for Personalized Medicine, Roswell Park Cancer Institute 1
INSERM UMR 1170,INSERM 1
Center for Molecular Medicine, University Medical Center Utrecht 1
Dr. Faghihi's Medical Genetic Center 1
Gahl Group, Medical Genetics Branch, National Human Genome Research Institute,National Institutes of Health 1
Department of Clinical Genetics,Tartu University Hospital 1
Dept of Medicine and Surgery, University of Milano-Bicocca 1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 1
Laboratory of Metabolic Disorders,Peking University First Hospital 1
Veritas Genetics,Veritas Genetics 1
Colorectal Cancer Research Lab, Singapore General Hospital 1
University of Mississippi Medical Center,University of Mississippi 1
McDonnell Genome Institute,Washington University in St. Louis 1
Research Centre for Medical Genetics 1
Prenatal Medicine Munich,Prenatal Medicine Munich 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 1
Center for Genomic Medicine,University of Copenhagen 1
Sidra Medical and Research Center 1
QMC Molecular Diagnostics,Queen's Medical Center 1
Human Genetics Disease in Children – Taif University,Taif University 1
Neurogenetics group,VIB, Antwerp, Belgium 1
Choi Lab,Seoul National University 1
Leeds Amelogenesis Imperfecta Research Group,Leeds University 1
Dhiti Omics Technologies Pvt. Ltd. 1
Centre for Molecular Medicine and Therapeutics,University of British Columbia 1
Human Genetics and Genome Research Division,National Research Centre 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 1
Laboratory of Molecular Genetics,National Institutes of Health 1
Department of Ophthalmology,Flinders Medical Centre 1
Department of Medical Biochemistry and Genetics,University of Turku 1
Universitätsklinikum Salzburg,Universitätskinderklinik 1
Department of Molecular and Medical Genetics,Osaka Medical Center for Cancer and Cardiovascular Diseases 1
Center for Statistical Genetics,Baylor College of Medicine 1
Center for Genomic Medicine,Kyoto University Graduate School of Medicine 1
Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 1
Medical Genetics,Meyer Children Hospital 1
Korbonits Lab,Queen Mary University of London 1
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 1
Human Genetics Unit,University of Colombo 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 1
Molecular Pathology, SA Pathology 1
The Genetics Institute,Rambam Health Care Campus 1
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 1
Labor Lademannbogen MVZ GmbH 1
Genetic Laboratory,Instituto Nacional de Cancer 1
Key Laboratory of Endocrinology,Peking Union Medical College Hospital 1
Molecular Medicine Center, Medical University of Sofia 1
Department of Animal Sciences,Quaid-i-Azam University 1
Akbari laboratory,Tarbiat Modares University 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 1
Endocrine oncology group,Uppsala University 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 1
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 1
Caglayan Lab,Istanbul Bilim University 1
Servicio Extremeño de Salud,Hospital de Mérida 1
Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu,Universidade Estadual Paulista 1
Molecular Medicine Research Center,University of Cyprus 1
Department of Medical Sciences,Uppsala University 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 1
Division of Genomics,Kyushu university 1
Barrett Group,Wellcome Trust Sanger Institute 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 1
School of Basic Medicine,Fourth Military Medical University 1
Genetics of Mitochondrial Diseases,Imagine Institute 1
Institute of Endocrinology, Diabetes & Metabolism,Max Healthcare Institute Ltd. 1
Human Molecular Genetics Laboratory,Federal University of Parana 1
Murat Gunel Laboratory,Yale University 1
Center for Medical Genetics,Keio University School of Medicine 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 1
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 1
New Leaf Center 1
Dr. Liu's Molecular Genetics Laboratory,University of Miami Miller School of Medicine 1
Dr Meenakshi Bhat Group,Centre for Human Genetics 1
Molecular Genetics Laboratory,State University of Campinas 1
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 1
Istenhegyi Gendiagnosztika Kft 1
Center of Vascular Surgery,The Second Affiliated Hospital of Nanchang University 1
Medical Institute of Bioregulation,Kyushu university 1
GeniaGeo, Laboratorio Genia 1
Dpt. of Clinical Genetics, Molecular Genetics Lab 4062,University Hospital of Copenhagen, Rigshospitalet 1
Department of Human Genetics,University Hospital Magdeburg 1
Research Laboratory, University Department of Zoology,Vinoba Bhave University 1
Medical Genetics Center,Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 1
Pediatric Metabolic Diseases,Hacettepe University 1
Ambulatório de Genética Médica,Hospital Escola da Universidade Federal de Pelotas 1
Unidade de Endocrinologia Genetica - LIM25,Universidade de Sao Paulo (USP) 1
Inherited Neuropathy Consortium 1
Children's Hospital of Soochow University,Soochow University 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 1
University of Uludag Hospital, Genetic Diseases Diagnostic Center,University of Uludag 1
Department of Paediatric Medicine,Post Graduation Institute of Medical Education and Research 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 1
Pfaffle Lab, University Hospital for Children and Adolescents,University of Leipzig 1
Department of Medical Bioinformatics,Sinopath Diagnosis 1
Molecular Genetics Laboratory, Faculty of Medicine,Prince of Songkla University, Thailand 1
Guangdong Provincial Key Laboratory of South China Structural Heart Disease,Guangdong Cardiovascular Institute 1
Clinical Genetics Laboratory,Harran University 1
Center for Precision Medicine,Vanderbilt University Medical Center 1
Gill Bejerano Lab,Stanford University 1
The Danek Gertner Institute of Human Genetics,Sheba Medical Center 1
Magee Womens Research Institute,University of Pittsburgh Medical Center 1
Bondeson Group,Uppsala University 1
Department of Pathology,Brigham and Women's Hospital 1
Neurogenetics Lab,King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College 1
Cancer Diagnostics Division,Gene Solutions 1
Division of Human Genetics,Cincinnati Children's Hospital 1
Genotek, Genotek Ltd. 1
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 1
Marseille Medical Genetics, U1251,Aix Marseille University, Inserm 1
Division of Genetic Medicine,Lausanne University Hospital 1
Genomics For Life 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1
Cancer Genomics Laboratory,Texas Children's Hospital 1
Department of Internal Medicine, The University of Texas McGovern Medical School,The University of Texas Health Science Center at Houston 1
Laboratorio de Biología Molecular,FLENI 1
Pathophysiology of Heart Rhythm Disorders,Université Lyon 1 Claude Bernard 1
Institute of Neurogenomics,Technical University of Munich 1
Division of Paediatric Endocrinology and Diabetes,University of Luebeck 1
GOSgene,University College London Great Ormond Street Institute of Child Health 1
Division of Medical Genetics,University of Versailles 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1
Department of Immunology and Histocompatibility,University of Thessaly 1
Cole/Wambach Lab,Washington University in St. Louis 1
Department of Urology,The First Affiliated Hospital of Henan University of Traditional Chinese Medicine 1
Department of Pediatrics, Union Hospital,Tongji Medical College, Huazhong University of Science and Technology 1
The Division of Genetics and Genomic Medicine,Washington University School of Medicine 1
University Hospital of Lyon,Hospices Civils de Lyon 1
Myelin Disorders Clinic,Children's Medical Center 1
Dr Goodarzi Genetics and Genomics Lab 1
Laboratory of Human Molecular Genetics,Institute of Cytology and Genetics 1
Gregorio Maranon General University Hospital,Gregorio Maranon Health Research Institute 1
Department of Medical Genetics,University of Pecs 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 1
University of Malaya Medical Center,University of Malaya 1
Johns Hopkins Genomics,Johns Hopkins University 1
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital 1
Institute of Bioinformatics 1
Medical Molecular Genetics Department,Human Genetics and Genome Research Division, National Research Centre 1
Children's Medical Research Institute,University of Sydney 1
Department of Clinical and Movement Neurosciences, Institute of Neurology,University College London 1
Department of Medical Genetics,Ahvaz Jundishapur University of Medical Sciences 1
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 1
Children's Hospital of Wisconsin Genetics Clinic,Medical College of Wisconsin 1
Clinical Genetics,University of Leipzig 1
Department of Pediatric Endocrinology,Cukurova University Medical Faculty 1
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program,University of New South Wales 1
University of Iowa Renal Genetics Clinic,University of Iowa 1
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 1
Medical Genetics Department,Assistance Publique Hopitaux de Marseille 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1
Clinical Research Group,BGI genomics 1

Breakdown by condition #

Total conditions: 3420
Download table as spreadsheet
Condition Variants
not provided 11488
Hereditary cancer-predisposing syndrome 1391
Familial hypercholesterolemia 1042
See cases 734
Marfan syndrome 570
Inborn genetic diseases 514
Lung adenocarcinoma 388
Adenocarcinoma of stomach 360
Neoplasm of the large intestine 352
Primary dilated cardiomyopathy 350
Hereditary breast and ovarian cancer syndrome 337
Lynch syndrome 334
Squamous cell carcinoma of the head and neck 330
Neoplasm of the breast 325
Ataxia-telangiectasia syndrome 316
Cardiovascular phenotype 308
Malignant neoplasm of body of uterus 287
Malignant melanoma of skin 279
Transitional cell carcinoma of the bladder 276
Cohen syndrome 274
Squamous cell lung carcinoma 270
Familial cancer of breast 255
Hepatocellular carcinoma 254
Neurofibromatosis, type 1 243
Pancreatic adenocarcinoma 242
Neoplasm of brain 236
Retinitis pigmentosa 234
Carcinoma of esophagus 227
Ovarian Serous Cystadenocarcinoma 225
Phenylketonuria 225
Glioblastoma 223
Nemaline myopathy 2 216
Cystic fibrosis 212
Primary familial hypertrophic cardiomyopathy 208
Spastic ataxia Charlevoix-Saguenay type 206
Autosomal recessive polycystic kidney disease 204
Adenocarcinoma of prostate 186
Ovarian Neoplasms 178
Wilson disease 175
Uterine Carcinosarcoma 174
Retinal dystrophy 173
Junctional epidermolysis bullosa gravis of Herlitz 172
Acute myeloid leukemia 165
Usher syndrome, type 2A; Retinitis pigmentosa 39 164
Non-ketotic hyperglycinemia 156
Finnish congenital nephrotic syndrome 154
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 145
Breast-ovarian cancer, familial 2 144
Multiple myeloma 139
Hereditary nonpolyposis colon cancer 137
Glycogen storage disease, type II 136
Schizophrenia 136
Uterine cervical neoplasms 132
Kabuki syndrome 1 127
not specified 123
Stargardt disease 1 121
Fanconi anemia, complementation group A 120
Hypertrophic cardiomyopathy 120
Alstrom syndrome 119
Neoplasm 116
Dilated cardiomyopathy 1G 114
Nonsyndromic hearing loss and deafness 114
Alport syndrome, autosomal recessive 113
Niemann-Pick disease type C1 107
Squamous cell carcinoma of the skin 107
Cardiomyopathy 106
Limb-girdle muscular dystrophy, type 2A 104
Renal cell carcinoma, papillary, 1 104
Chronic lymphocytic leukemia 103
Persistent hyperinsulinemic hypoglycemia of infancy 103
Breast-ovarian cancer, familial 1 102
Maple syrup urine disease 102
Pendred syndrome 102
Small cell lung cancer 98
Glycogen storage disease type III 97
Bloom syndrome 94
Maturity-onset diabetes of the young, type 2 93
Abnormality of brain morphology 90
Peroxisome biogenesis disorder 1A (Zellweger) 89
Very long chain acyl-CoA dehydrogenase deficiency 86
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 85
Usher syndrome, type 1F 85
Ceroid lipofuscinosis neuronal 1 84
Chondroectodermal dysplasia 84
Arrhythmogenic right ventricular cardiomyopathy 83
Deafness, autosomal recessive 2; Usher syndrome, type 1 83
Long QT syndrome 83
Cutaneous melanoma 81
Galactosylceramide beta-galactosidase deficiency 81
Merosin deficient congenital muscular dystrophy 81
Brainstem glioma 80
Thoracic aortic aneurysm and aortic dissection 80
Medulloblastoma 79
Mucopolysaccharidosis type VI 78
Ciliary dyskinesia 77
Limb-girdle muscular dystrophy, type 2B 77
Juvenile neuronal ceroid lipofuscinosis 76
Muscle eye brain disease 75
Short stature 73
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 72
Glutaric aciduria, type 1 72
Microcephaly, normal intelligence and immunodeficiency 72
Deafness, autosomal recessive 1A 69
Medium-chain acyl-coenzyme A dehydrogenase deficiency 69
Homocystinuria due to CBS deficiency 68
Smith-Lemli-Opitz syndrome 68
Tay-Sachs disease 68
Usher syndrome, type 1 68
Metaphyseal chondrodysplasia, McKusick type 67
Propionyl-CoA carboxylase deficiency 67
Adrenocortical carcinoma 66
Metachromatic leukodystrophy 65
Autistic disorder of childhood onset 62
Bardet-Biedl syndrome 10 62
Niemann-Pick disease, type A 62
Renal carnitine transport defect 61
Familial adenomatous polyposis 1 60
Megaloblastic anemia due to inborn errors of metabolism 60
Fanconi anemia, complementation group C 59
Hereditary factor XI deficiency disease 59
Biotinidase deficiency 58
Cornelia de Lange syndrome 1 58
Early infantile epileptic encephalopathy 56
Li-Fraumeni syndrome 56
Non-small cell lung cancer 56
Dihydropyrimidine dehydrogenase deficiency 54
Familial hypertrophic cardiomyopathy 1 54
Infantile hypophosphatasia 54
Carbohydrate-deficient glycoprotein syndrome type I 53
PTEN hamartoma tumor syndrome 52
Papillary renal cell carcinoma, sporadic 52
Tubulinopathies 52
Bethlem myopathy 1 51
Citrullinemia type I 51
Deficiency of alpha-mannosidase 51
Intellectual disability 51
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 51
MYH-associated polyposis 50
Somatotroph adenoma 50
Brugada syndrome 49
Duchenne muscular dystrophy 49
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 49
Gastrointestinal stroma tumor 49
Mucopolysaccharidosis, MPS-III-B 49
Von Hippel-Lindau syndrome 49
Carnitine palmitoyltransferase II deficiency, infantile 48
Congenital secretory diarrhea, chloride type 48
Familial hypercholesterolemias 48
Multiple epiphyseal dysplasia 4 48
Usher syndrome, type 2A 48
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 47
Sjögren-Larsson syndrome 47
Autosomal recessive congenital ichthyosis 1 46
Ceroid lipofuscinosis neuronal 5 46
Fabry disease 46
Glycogen storage disease, type V 46
Lynch syndrome I 46
Noonan syndrome 46
Polyglandular autoimmune syndrome, type 1 46
Adenoid cystic carcinoma 45
Ceroid lipofuscinosis neuronal 2 45
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 45
I cell disease; Pseudo-Hurler polydystrophy 45
Inclusion body myopathy 2 45
Multiple endocrine neoplasia, type 1 45
Dysostosis multiplex 44
Familial dysautonomia 44
Non-Hodgkin lymphoma 44
Rasopathy 44
Achromatopsia 3 43
Progressive sclerosing poliodystrophy 43
Deficiency of butyrylcholine esterase 42
Aspartylglucosaminuria 41
Bifunctional peroxisomal enzyme deficiency 41
Hereditary diffuse gastric cancer 41
Lysinuric protein intolerance 41
Peroxisome biogenesis disorder 1B 41
Usher syndrome 41
Familial hypertrophic cardiomyopathy 4 40
History of neurodevelopmental disorder 40
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 40
Spastic paraplegia 15 40
Congenital hyperammonemia, type I 39
Diastrophic dysplasia 39
Limb-girdle muscular dystrophy, type 2J 39
Salla disease 39
Spongy degeneration of central nervous system 39
Xeroderma pigmentosum, group C 39
Bardet-Biedl syndrome 38
Ceroid lipofuscinosis neuronal 8 38
Leigh syndrome, French Canadian type 38
Limb-girdle muscular dystrophy, type 2D 38
Primary hyperoxaluria, type I 38
Tyrosinemia type I 38
Xeroderma pigmentosum, type 1 38
Deficiency of butyryl-CoA dehydrogenase 37
Nephrotic syndrome, idiopathic, steroid-resistant 37
Osteogenesis imperfecta 37
Ehlers-Danlos syndrome, type 4 36
Primary hyperoxaluria, type II 36
Bardet-Biedl syndrome 1 35
Isovaleryl-CoA dehydrogenase deficiency 35
Nephropathic cystinosis 35
beta Thalassemia 35
Autism spectrum disorder 34
Fanconi anemia 34
Neuroblastoma 34
Sandhoff disease 34
Sotos syndrome 1 34
Familial hypertrophic cardiomyopathy 9 33
Glucose-6-phosphate transport defect 33
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 33
Long QT syndrome 1 33
Ornithine aminotransferase deficiency 33
Osteopetrosis autosomal recessive 1 33
Alport syndrome 1, X-linked recessive 32
Andermann syndrome 32
Bardet-Biedl syndrome 2 32
Distal myopathy Markesbery-Griggs type 32
Familial cancer of breast; Fanconi anemia, complementation group J 32
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 32
Mucopolysaccharidosis, MPS-III-A 32
Neoplasm of ovary 32
Nonsyndromic Oculocutaneous Albinism 32
Pyknodysostosis 32
Tuberous sclerosis 2 32
Carnitine palmitoyltransferase I deficiency 31
Charcot-Marie-Tooth disease, type 2 31
Dyskeratosis congenita, autosomal recessive, 5 31
Hereditary myopathy with early respiratory failure 31
Myelodysplastic syndrome 31
Segawa syndrome, autosomal recessive 31
Cholestanol storage disease 30
Chronic myelogenous leukemia 30
Glycogen storage disease type 1A 30
Meckel syndrome type 3 30
Rhizomelic chondrodysplasia punctata type 1 30
Epileptic encephalopathy 29
GRACILE syndrome 29
Myopathy, early-onset, with fatal cardiomyopathy 29
Osler hemorrhagic telangiectasia syndrome 29
Pheochromocytoma 29
Rubinstein-Taybi syndrome 1 29
Alkaptonuria 28
Fanconi anemia, complementation group O 28
Hereditary fructosuria 28
Megalencephalic leukoencephalopathy with subcortical cysts 1 28
Osteogenesis imperfecta type I 28
Rett syndrome 28
Argininosuccinate lyase deficiency 27
Breast-ovarian cancer, familial 4 27
Deficiency of steroid 11-beta-monooxygenase 27
Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 27
Maturity-onset diabetes of the young, type 3 27
Methylmalonic acidemia with homocystinuria 27
Nasopharyngeal Neoplasms 27
Severe combined immunodeficiency due to ADA deficiency 27
Usher syndrome, type 1C; Deafness, autosomal recessive 18 27
Bardet-Biedl syndrome 12 26
Catecholaminergic polymorphic ventricular tachycardia 26
Fanconi anemia, complementation group J; Neoplasm of ovary 26
Alpha-1-antitrypsin deficiency 25
Congenital muscular hypertrophy-cerebral syndrome 25
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 25
Retinoblastoma 25
Seizures 25
Waardenburg syndrome type 1 25
Alport syndrome 3, autosomal dominant 24
CHARGE association 24
Congenital cataract 24
Congenital stationary night blindness 24
Hereditary Paraganglioma-Pheochromocytoma Syndromes 24
Leber congenital amaurosis 24
Achondrogenesis, type IB 23
Adrenoleukodystrophy 23
Atelosteogenesis type 2 23
Early infantile epileptic encephalopathy 2 23
Lissencephaly 3 23
Loeys-Dietz syndrome 23
Peutz-Jeghers syndrome 23
Severe myoclonic epilepsy in infancy 23
Blepharophimosis, ptosis, and epicanthus inversus 22
Carcinoma of gallbladder 22
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 22
Enlarged vestibular aqueduct; Pendred syndrome 22
Fumarase deficiency 22
Neoplasm of the thyroid gland 22
Pituitary hormone deficiency, combined 2 22
Cardio-facio-cutaneous syndrome 21
Hereditary nonpolyposis colorectal cancer type 5 21
Holocarboxylase synthetase deficiency 21
Juvenile polyposis syndrome 21
Meckel syndrome type 6 21
Myopathy, Central Core 21
Severe X-linked myotubular myopathy 21
Spastic paraplegia 4, autosomal dominant 21
Ullrich congenital muscular dystrophy 1 21
6-pyruvoyl-tetrahydropterin synthase deficiency 20
Cholesterol monooxygenase (side-chain cleaving) deficiency 20
Congenital disorder of glycosylation type 1B 20
Congenital disorder of glycosylation type 1C 20
Fukuyama congenital muscular dystrophy 20
Gaucher's disease, type 1 20
Long QT syndrome 2 20
Macular dystrophy 20
Mucopolysaccharidosis, MPS-III-C 20
Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 20
RYR1-Related Disorders 20
Severe autosomal recessive muscular dystrophy of childhood - North African type 20
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 19
Deafness, autosomal dominant 3a 19
Enlarged vestibular aqueduct 19
Familial hypocalciuric hypercalcemia 19
Heterotopia 19
Joubert syndrome 19
Limb-girdle muscular dystrophy, type 2E 19
Lynch syndrome II 19
Maple syrup urine disease, type 3 19
Medullary thyroid carcinoma 19
Mucolipidosis III Gamma 19
Mucolipidosis type IV 19
Pitt-Hopkins syndrome 19
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 18
Breast and/or ovarian cancer 18
Carnitine palmitoyltransferase II deficiency, lethal neonatal 18
Childhood-Onset Schizophrenia 18
Dilated cardiomyopathy 1S 18
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 18
Familial hypokalemia-hypomagnesemia 18
Hirschsprung disease 18
Multiple endocrine neoplasia, type 2a 18
Periventricular nodular heterotopia 1 18
Retinitis pigmentosa 25 18
Severe combined immunodeficiency disease 18
Tyrosinase-positive oculocutaneous albinism 18
Abnormality of the eye 17
Carcinoma 17
Catecholaminergic polymorphic ventricular tachycardia type 1 17
Cockayne syndrome type A 17
Lissencephaly 1 17
Meckel syndrome type 1 17
Polycystic kidney disease, adult type 17
ZTTK syndrome 17
Angelman syndrome 16
Ataxia with vitamin E deficiency 16
Ceroid lipofuscinosis neuronal 6 16
Danon disease 16
Deafness, autosomal recessive 3 16
Delayed puberty 16
Ehlers-Danlos syndrome, periodontal type, 2 16
Gorlin syndrome 16
Iron accumulation in brain 16
Jeune thoracic dystrophy 16
Lysosomal acid lipase deficiency 16
Meckel-Gruber syndrome 16
Mental retardation, X-linked, syndromic, Turner type 16
Mental retardation, autosomal dominant 9 16
Methylmalonic aciduria cblA type 16
Nephrocalcinosis; Nephrolithiasis 16
Tuberous sclerosis 1 16
X-linked agammaglobulinemia 16
Cerebral visual impairment and intellectual disability 15
Charcot-Marie-Tooth disease type 4 15
Chondrodysplasia punctata 2 X-linked dominant 15
Combined oxidative phosphorylation deficiency 14 15
Deficiency of hydroxymethylglutaryl-CoA lyase 15
Ehlers-Danlos syndrome, classic type 15
Hereditary cutaneous melanoma 15
Hereditary nonpolyposis colorectal cancer type 4 15
Holt-Oram syndrome 15
Leigh syndrome 15
Menkes kinky-hair syndrome 15
Methylmalonic aciduria cblB type 15
Multiple endocrine neoplasia, type 2b 15
Nemaline myopathy 3 15
Neonatal pseudo-hydrocephalic progeroid syndrome 15
Nephrogenic diabetes insipidus 15
Non-immune hydrops fetalis 15
Primary hyperoxaluria, type III 15
Retinitis pigmentosa 39 15
Rett syndrome, congenital variant 15
Wolff-Parkinson-White pattern 15
Charcot-Marie-Tooth disease, type I 14
Cornelia de Lange syndrome 5 14
Deafness, X-linked 5 14
Familial adenomatous polyposis 14
Hypogonadotropic hypogonadism 7 with or without anosmia 14
Meckel syndrome type 4 14
Multiple endocrine neoplasia, type 4 14
Muscular Diseases 14
Ornithine carbamoyltransferase deficiency 14
Short-rib thoracic dysplasia 3 with or without polydactyly 14
Spastic paraplegia 11, autosomal recessive 14
Spastic paraplegia 7 14
Usher syndrome, type 3A 14
Arginase deficiency 13
Astrocytoma 13
Charcot-Marie-Tooth Neuropathy X 13
Cone/cone-rod dystrophy 13
Cornelia de Lange syndrome 3 13
Dyskeratosis congenita 13
Early infantile epileptic encephalopathy 11 13
Endometrial neoplasm 13
Hematologic neoplasm 13
Hereditary hemorrhagic telangiectasia type 2 13
Li-Fraumeni syndrome 1 13
Maturity-onset diabetes of the young, type 1 13
Nemaline myopathy 13
Neonatal diabetes mellitus 13
Neurofibromatosis, type 2 13
Tumor susceptibility linked to germline BAP1 mutations 13
Tyrosinemia type 2 13
Usher syndrome, type 2C 13
Vici syndrome 13
Waardenburg syndrome type 4C 13
X-linked severe combined immunodeficiency 13
3-Methylglutaconic aciduria type 2 12
Arrhythmogenic right ventricular cardiomyopathy, type 9 12
Chronic progressive multiple sclerosis 12
Early infantile epileptic encephalopathy 7 12
Familial X-linked hypophosphatemic vitamin D refractory rickets 12
Fanconi anemia, complementation group J 12
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 12
Laminin alpha 2-related dystrophy 12
Limb-girdle muscular dystrophy, type 2L 12
Mental retardation, autosomal dominant 5 12
Metastatic pancreatic neuroendocrine tumours 12
Mulibrey nanism syndrome 12
Multiple fibrofolliculomas 12
Myofibrillar myopathy 1 12
Neurodegeneration with brain iron accumulation 5 12
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 12
Rapadilino syndrome 12
Spinal muscular atrophy, distal, autosomal recessive, 1 12
Spondylocostal dysostosis 2 12
Werner syndrome 12
Bosch-Boonstra-Schaaf optic atrophy syndrome 11
Ciliary dyskinesia, primary, 3 11
Congenital contractural arachnodactyly 11
Deficiency of galactokinase 11
Dilatation of ascending aorta; Bicuspid aortic valve 11
Early infantile epileptic encephalopathy 13 11
Glutaric aciduria, type 2 11
Idiopathic basal ganglia calcification 1 11
Kabuki syndrome 2 11
Mitochondrial complex I deficiency 11
Mitochondrial complex II deficiency; Paragangliomas 5 11
Motor neuron disease 11
Mucopolysaccharidosis, MPS-IV-A 11
Spondylometaphyseal dysplasia 11
Tyrosinase-negative oculocutaneous albinism 11
Usher syndrome, type 1D 11
Alzheimer's disease 10
Autosomal recessive congenital ichthyosis 2 10
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 10
Coffin-Siris syndrome 1 10
Dilated cardiomyopathy 1A 10
Familial Mediterranean fever 10
Familial hypoplastic, glomerulocystic kidney 10
Glycogen storage disease type IXa1 10
Hirschsprung disease 1 10
Hypohidrotic ectodermal dysplasia 10
Lymphoblastic leukemia, acute, with lymphomatous features 10
MUTYH-associated polyposis 10
Mental retardation, autosomal dominant 7 10
Muscular dystrophy 10
Nicolaides-Baraitser syndrome 10
Nonsyndromic cleft lip palate 10
Paragangliomas 4 10
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia 10
Rhabdoid tumor predisposition syndrome 2 10
Romano-Ward syndrome 10
STAG1-related disorder 10
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 10
ABCA4-Related Disorders 9
Achromatopsia 9
Adams-Oliver syndrome 5 9
Aicardi-Goutieres syndrome 6 9
Albinism 9
Autistic behavior; Moderate global developmental delay 9
Autosomal recessive congenital ichthyosis 10 9
Brugada syndrome 1 9
Congenital disorder of glycosylation type 1K 9
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 9
Epilepsy, familial focal, with variable foci 1 9
Hereditary pancreatitis 9
Holoprosencephaly sequence 9
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 9
Kidney Carcinoma 9
Mowat-Wilson syndrome 9
Multiple cutaneous leiomyomas 9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 9
Noonan syndrome 3 9
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 9
Primary autosomal recessive microcephaly 5 9
Rhabdomyolysis 9
Seizures; hypotonia; Neurodevelopmental Disability 9
Spastic paraplegia 9
Thyroid dyshormonogenesis 6 9
Thyroid hemiagenesis 9
Upshaw-Schulman syndrome 9
Vitelliform macular dystrophy type 2 9
Waardenburg syndrome type 2A 9
Abnormality of esophagus morphology 8
Aniridia 1 8
Arrhythmogenic right ventricular cardiomyopathy, type 10 8
Ataxia-telangiectasia-like disorder 1 8
Atypical hemolytic uremic syndrome 8
Baller-Gerold syndrome 8
Baraitser-Winter syndrome 1 8
Beckwith-Wiedemann syndrome 8
Branchiooculofacial syndrome 8
Carcinoma of colon 8
Cardiac arrhythmia 8
Cerebral arteriovenous malformation 8
Charcot-Marie-Tooth disease 8
Charcot-Marie-Tooth disease, type 2A2A 8
Chronic granulomatous disease, X-linked 8
Cowden syndrome 1 8
Cystinuria 8
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 8
Deafness, autosomal recessive 2 8
Deafness, autosomal recessive 9 8
Dilated cardiomyopathy 8
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 8
Dysferlinopathy 8
Early infantile epileptic encephalopathy 9 8
Epilepsy, focal, with speech disorder and with or without mental retardation 8
Familial aortopathy 8
Familial dilated cardiomyopathy 8
Familial thoracic aortic aneurysm; Acute aortic dissection 8
Gaucher disease 8
Generalized epilepsy with febrile seizures plus, type 2 8
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 8
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 8
Inclusion body myopathy 3 8
Infantile neuroaxonal dystrophy 8
Juvenile retinoschisis 8
Kabuki syndrome 8
Keratoconus 1 8
Levy-Hollister syndrome 8
Meckel syndrome type 2 8
Mental retardation, X-linked 102 8
Mental retardation, autosomal dominant 13 8
Mental retardation, autosomal dominant 31 8
Neoplasm of stomach 8
Niemann-Pick disease type C2 8
Nijmegen breakage syndrome-like disorder 8
Osteogenesis imperfecta, recessive perinatal lethal 8
Primary autosomal recessive microcephaly 2 8
Recessive dystrophic epidermolysis bullosa 8
Robinow syndrome, autosomal dominant 2 8
Stickler syndrome type 1 8
Three M syndrome 1 8
Wiedemann-Steiner syndrome 8
3-Methylglutaconic aciduria type 3 7
Acute megakaryoblastic leukemia 7
Amyloidogenic transthyretin amyloidosis 7
Anauxetic dysplasia 7
Aortic aneurysm, familial thoracic 7 7
Autistic behavior; Severe global developmental delay 7
Benign familial neonatal seizures 1 7
Bladder carcinoma 7
Charcot-Marie-Tooth disease type 2F 7
Coenzyme Q10 deficiency, primary, 4 7
Coffin-Lowry syndrome 7
Congenital bilateral absence of the vas deferens 7
Congenital lactase deficiency 7
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 7
Elevated serum creatine phosphokinase 7
Epilepsy, progressive myoclonic 3 7
Epileptic encephalopathy, early infantile, 33 7
Familial hyperinsulinism 7
Familial hypertrophic cardiomyopathy 2 7
Familial partial lipodystrophy 3 7
Hypercholesterolaemia 7
Hyperimmunoglobulin E syndrome 7
Hypohidrotic X-linked ectodermal dysplasia 7
Immunodeficiency with hyper IgM type 1 7
Intellectual functioning disability 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 7
Monogenic diabetes 7
Myeloproliferative disorder 7
Perrault syndrome 2 7
Pulmonary arterial hypertension associated with congenital heart disease 7
Pyruvate carboxylase deficiency 7
Pyruvate dehydrogenase E1-alpha deficiency 7
Rubinstein-Taybi syndrome 2 7
Severe intellectual deficiency 7
Spinocerebellar ataxia, autosomal recessive 8 7
Supravalvar aortic stenosis 7
microform holoprosencephaly 7
Autism, susceptibility to, 18 6
Autosomal recessive congenital ichthyosis 4B 6
Axenfeld-Rieger syndrome type 3 6
Bestrophinopathy, autosomal recessive 6
Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 6
Carney triad 6
Carnitine palmitoyltransferase II deficiency 6
Charcot-Marie-Tooth disease type 2P 6
Charcot-Marie-Tooth disease, axonal, type 2S 6
Chromosome 9q deletion syndrome 6
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 6
Cockayne syndrome B 6
Costello syndrome 6
Deafness, autosomal recessive 16 6
Deficiency of acetyl-CoA acetyltransferase 6
Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 6
Distal hereditary motor neuronopathy type 2B 6
Dystonia 28, childhood-onset 6
Epilepsy, childhood absence 2; Familial febrile seizures 8 6
Epilepsy, hearing loss, and mental retardation syndrome 6
Epileptic encephalopathy, childhood-onset 6
Episodic ataxia type 2 6
Familial hemiplegic migraine 6
Familial hypertrophic cardiomyopathy 10 6
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 6
Frontotemporal dementia 6
Global developmental delay; Intellectual disability 6
Head and Neck Neoplasms 6
Hemophagocytic lymphohistiocytosis, familial, 2 6
Hereditary insensitivity to pain with anhidrosis 6
Hereditary spastic paraplegia 6
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Primary immunodeficiency 6
Hyperekplexia hereditary 6
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 6
Infantile GM1 gangliosidosis 6
Joubert syndrome 2 6
Joubert syndrome 2; Meckel syndrome type 2 6
Joubert syndrome 3 6
Joubert syndrome 6 6
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 6
KBG syndrome 6
Kartagener syndrome 6
Left ventricular noncompaction cardiomyopathy 6
Limb-girdle muscular dystrophy 6
Loeys-Dietz syndrome 4 6
Long QT syndrome 3 6
Lung cancer 6
Lymphoma 6
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 6
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 6
Mucopolysaccharidosis, MPS-II 6
Myoclonic-atonic epilepsy 6
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 6
Navajo neurohepatopathy 6
Optic atrophy; Childhood Onset Dystonias 6
Ovarian dysgenesis 1 6
Paragangliomas 5 6
Parkinson disease 2 6
Polymicrogyria, asymmetric 6
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 6
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 6
Unverricht-Lundborg syndrome 6
Wiskott-Aldrich syndrome 6
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 5
3-methylcrotonyl CoA carboxylase 2 deficiency 5
Aarskog syndrome 5
Abnormal aortic valve physiology 5
Achromatopsia 4 5
Alagille syndrome 1 5
Allan-Herndon-Dudley syndrome 5
Asparagine synthetase deficiency 5
Atypical Rett syndrome 5
Autosomal recessive centronuclear myopathy 5
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome; Autosomal dominant hypohidrotic ectodermal dysplasia 5
Benign familial neonatal-infantile seizures 5
Breast cancer, susceptibility to 5
CHEK2-Related Cancer Susceptibility 5
Capillary malformation-arteriovenous malformation 5
Cerebral cavernous malformation 5
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 5
Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 5
Congenital adrenal hyperplasia 5
Congenital muscular dystrophy 5
Congenital muscular dystrophy, LMNA-related 5
Congenital stationary night blindness, type 1C 5
Connective tissue disorder 5
Cowden syndrome 5
Craniofrontonasal dysplasia 5
Craniopharyngioma 5
Deafness, autosomal recessive 12 5
Deafness, autosomal recessive 18 5
Deafness, autosomal recessive 77 5
Dilated cardiomyopathy 1HH 5
Early infantile epileptic encephalopathy 17 5
Early infantile epileptic encephalopathy 4 5
Epileptic encephalopathy, early infantile, 26 5
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 5
Ethylmalonic encephalopathy 5
FGFR2 related craniosynostosis 5
Familial cardiomyopathy 5
Familial platelet disorder with associated myeloid malignancy 5
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 5
Gastrointestinal stroma tumor; Paragangliomas 3 5
Global developmental delay; Failure to thrive 5
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 5
Hearing impairment 5
Heart, malformation of 5
Hereditary factor IX deficiency disease 5
IRF2BPL-related condition 5
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 5
Intraocular melanoma 5
Islet cell hyperplasia 5
Jervell and Lange-Nielsen syndrome 5
Joubert Syndrome and Related Disorders 5
Joubert syndrome 17 5
Joubert syndrome 5 5
Joubert syndrome 9 5
Legius syndrome 5
Low alkaline phosphatase 5
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 5
Malignant hyperthermia susceptibility 5
Meier-gorlin syndrome 7 5
Mental retardation and distinctive facial features with or without cardiac defects 5
Mental retardation with language impairment and with or without autistic features 5
Mental retardation, syndromic, Claes-Jensen type, X-linked 5
Microcephaly 5
Miyoshi muscular dystrophy 1 5
Moyamoya disease 2 5
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 5
Nephronophthisis 5
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 5
Neuronal ceroid lipofuscinosis 5
Niemann-Pick disease, type B; Niemann-Pick disease, type A 5
Nongoitrous Euthyroid Hyperthyrotropinemia 5
Obesity 5
Opitz-Frias syndrome 5
Oral-facial-digital syndrome 5
Pancreatic Neoplasms 5
Parathyroid carcinoma 5
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 5
Peroxisome biogenesis disorder 5a (zellweger); Peroxisome biogenesis disorder 5B 5
Pontocerebellar hypoplasia type 6 5
Primary open angle glaucoma 5
STAG2-related disorder 5
Seizures; Intellectual disability 5
Short Rib Polydactyly Syndrome 5
Shprintzen-Goldberg syndrome 5
Spastic paraplegia 3 5
Spastic paraplegia 35 5
Spherocytosis type 2 5
Spondylocarpotarsal synostosis syndrome 5
Spondylometaphyseal dysplasia - Sutcliffe type 5
Tatton-Brown-rahman syndrome 5
Tetralogy of Fallot 5
Tooth agenesis 5
Trimethylaminuria 5
VATER association 5
Van der Woude syndrome 5
Vascular Tumors Including Pyogenic Granuloma 5
White-sutton syndrome 5
3 Methylcrotonyl-CoA carboxylase 1 deficiency 4
AU-KLINE SYNDROME 4
Adenylosuccinate lyase deficiency 4
Adult junctional epidermolysis bullosa 4
Amyotrophic lateral sclerosis type 1 4
Androgen resistance syndrome 4
Anophthalmia - microphthalmia 4
Arrhythmogenic right ventricular cardiomyopathy, type 11 4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 4
Bartter syndrome, type 1, antenatal 4
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 4
Beta-hydroxyisobutyryl-CoA deacylase deficiency 4
Breast and colorectal cancer, susceptibility to 4
Breast-ovarian cancer, familial 3 4
Brown-Vialetto-Van Laere syndrome 2 4
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 4
Camptomelic dysplasia 4
Cardiofaciocutaneous syndrome 1 4
Cardiomyopathy, restrictive 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 4
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Lehman syndrome; Infantile myofibromatosis 2 4
Charcot-Marie-Tooth disease, dominant intermediate B 4
Charcot-Marie-Tooth disease, type 4A 4
Charcot-Marie-Tooth disease, type 4C 4
Chondroectodermal dysplasia; Curry-Hall syndrome 4
Chromosome Xq26.3 duplication syndrome 4
Coenzyme Q10 deficiency, primary, 7 4
Combined oxidative phosphorylation deficiency 10 4
Cone-rod dystrophy 3 4
Congenital contractures of the limbs and face, hypotonia, and developmental delay 4
Congenital microcephaly 4
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 4
Congenital myasthenic syndrome 12 4
Corneal dystrophy 4
DEAFNESS, AUTOSOMAL RECESSIVE 57 4
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 4
Deafness, autosomal recessive 28 4
Deficiency of aromatic-L-amino-acid decarboxylase 4
Deficiency of ferroxidase 4
Dent disease 2 4
Dilated cardiomyopathy 1DD 4
Disease 4
Distal arthrogryposis 4
Distal arthrogryposis type 5D 4
Distal shortening of limbs 4
Dystonia 4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 4
Ehlers-Danlos syndrome, type vii, autosomal recessive 4
Eichsfeld type congenital muscular dystrophy 4
Encephalopathy 4
Endplate acetylcholinesterase deficiency 4
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 4
Epileptic encephalopathy, early infantile, 1 4
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 4
Epileptic encephalopathy, early infantile, 31 4
Epileptic encephalopathy, early infantile, 32 4
Epileptic encephalopathy, early infantile, 54 4
Familial infantile myasthenia 4
Fanconi anemia, complementation group I 4
Focal epilepsy 4
Fructose-biphosphatase deficiency 4
GM1 gangliosidosis type 2 4
Giant axonal neuropathy 4
Glanzmann thrombasthenia 4
Global developmental delay 4
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 4
Global developmental delay; Typical Joubert syndrome MRI findings 4
Griscelli syndrome type 2 4
Hemophagocytic lymphohistiocytosis, familial, 3 4
Hereditary factor VIII deficiency disease 4
Histiocytic medullary reticulosis 4
Homocystinuria 4
Hypercholesterolemia, autosomal dominant, 3 4
Hyperimmunoglobulin E syndrome; STAT3 gain of function 4
Hypertelorism, Teebi type 4
Hypobetalipoproteinemia 4
Hypohidrotic ectodermal dysplasia with immune deficiency 4
Hypophosphatasia 4
Idiopathic fibrosing alveolitis, chronic form 4
Inclusion body myopathy 2; Nonaka myopathy; Sialuria 4
Interstitial lung and liver disease 4
KLEEFSTRA SYNDROME 2 4
Leukoencephalopathy with vanishing white matter 4
Lig4 syndrome 4
Limb-girdle muscular dystrophy, type 2G 4
Limb-girdle muscular dystrophy, type 2S 4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 4
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 4
MYO7A-Related Disorders 4
Malignant hyperthermia, susceptibility to, 1 4
Maple syrup urine disease type 1B 4
Mental retardation, X-linked 12 4
Mental retardation, autosomal dominant 16 4
Mental retardation, autosomal dominant 24 4
Mental retardation, autosomal dominant 26 4
Mental retardation, autosomal dominant 6 4
Microphthalmia, syndromic 12 4
Microphthalmia/coloboma and skeletal dysplasia syndrome 4
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 4
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 4
Mitochondrial complex I deficiency, nuclear type 1 4
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 4
Molybdenum cofactor deficiency, complementation group C 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 4
Multiple congenital exostosis 4
Multiple sulfatase deficiency 4
Muscular dystrophy-dystroglycanopathy 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 4
Myasthenic syndrome, congenital, 4a, slow-channel 4
Myeloproliferative Neoplasm 4
Myoclonic dystonia 4
Neurodegeneration with brain iron accumulation 4 4
Neuropathy, hereditary sensory and autonomic, type VI 4
Noonan syndrome 1 4
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 4
OOCYTE MATURATION DEFECT 4 4
Odontotrichomelic syndrome 4
Oligodontia-colorectal cancer syndrome 4
Orofaciodigital syndrome 6; Joubert syndrome 17 4
Osteochondrodysplasia 4
Osteodysplastic primordial dwarfism, type 1 4
Periventricular nodular heterotopia 4
Permanent neonatal diabetes mellitus 4
Pfeiffer syndrome 4
Phytanic acid storage disease 4
Pigmented nodular adrenocortical disease, primary, 2 4
Polycystic kidney disease 3 4
Pontocerebellar hypoplasia type 2B 4
Pontocerebellar hypoplasia, type 1b 4
Poretti-Boltshauser syndrome 4
Primary autosomal recessive microcephaly 1 4
Primary autosomal recessive microcephaly 4 4
Primary autosomal recessive microcephaly 9 4
Primary ciliary dyskinesia 23 4
Pseudohypoaldosteronism type 1 autosomal dominant 4
Pseudoxanthoma elasticum 4
Pyridoxine-dependent epilepsy 4
Pyruvate kinase deficiency of red cells 4
Retinitis pigmentosa 38 4
Rhabdoid tumor predisposition syndrome 1 4
Sensorineural hearing loss 4
Severe neonatal-onset encephalopathy with microcephaly 4
Short rib-polydactyly syndrome, Majewski type 4
Spastic paraplegia 31, autosomal dominant 4
Spastic paraplegia 77, autosomal recessive 4
Split-hand/foot malformation 6 4
Thyroid hormone resistance, generalized, autosomal dominant 4
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 4
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 4
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 4
Undetermined early-onset epileptic encephalopathy 4
Visceral myopathy 4
Walker-Warburg congenital muscular dystrophy 4
West syndrome 4
Wolfram syndrome 4
Xia-Gibbs syndrome 4
von Willebrand disorder 4
2-aminoadipic 2-oxoadipic aciduria 3
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3
46,XY sex reversal, type 3 3
46,XY sex reversal, type 6 3
Abetalipoproteinaemia 3
Achondrogenesis, type II 3
Acute intermittent porphyria 3
Adams-Oliver syndrome 3
Adams-Oliver syndrome 3 3
Aicardi Goutieres syndrome 3
Aicardi Goutieres syndrome 1 3
Alternating hemiplegia of childhood 2 3
Amyotrophic lateral sclerosis 16, juvenile 3
Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 3
Anophthalmos with limb anomalies 3
Arrhythmia 3
Atypical hemolytic-uremic syndrome 1 3
Autoimmune lymphoproliferative syndrome 3
Autosomal dominant epilepsy 3
Autosomal recessive hypophosphatemic bone disease 3
Axenfeld-Rieger syndrome type 1; Iridogoniodysgenesis, dominant type 3
Baraitser-Winter Syndrome 2 3
Bardet-Biedl syndrome 5 3
Becker muscular dystrophy 3
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 3
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 3
Borjeson-Forssman-Lehmann syndrome 3
Brugada syndrome (shorter-than-normal QT interval) 3
Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 3
Cataract 3, multiple types 3
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 3
Cerebellar ataxia, nonprogressive, with mental retardation 3
Cerebral cavernous malformations 2 3
Cerebroretinal microangiopathy with calcifications and cysts 1 3
Ceroid lipofuscinosis neuronal 7 3
Charcot-Marie-Tooth disease type 2C 3
Charcot-Marie-Tooth disease, axonal, type 2O 3
Child syndrome 3
Chromosome 2q32-q33 deletion syndrome 3
Chédiak-Higashi syndrome 3
Coenzyme Q10 deficiency, primary 1 3
Collagen VI-related myopathy 3
Combined oxidative phosphorylation deficiency 13 3
Combined oxidative phosphorylation deficiency 20 3
Combined oxidative phosphorylation deficiency 23 3
Congenital adrenal hypoplasia, X-linked 3
Congenital amegakaryocytic thrombocytopenia 3
Congenital anomalies of kidney and urinary tract 3
Congenital diaphragmatic hernia 3
Congenital disorder of glycosylation type 1F 3
Congenital disorder of glycosylation type 2C 3
Congenital hemolytic anemia 3
Congenital microvillous atrophy 3
Congenital muscular dystrophy due to partial LAMA2 deficiency 3
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 3
Congenital myopathy 3
Congenital myotonia, autosomal recessive form 3
Congenital sensorineural hearing impairment 3
Cornea plana 2 3
Cortical dysplasia, complex, with other brain malformations 5 3
Craniosynostosis 1; Saethre-Chotzen syndrome 3
Craniosynostosis syndrome 3
Crigler-Najjar syndrome 3
Crouzon syndrome 3
Cutis laxa-corneal clouding-oligophrenia syndrome 3
Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 3
Deafness, autosomal dominant 10 3
Deafness, autosomal recessive 22 3
Deafness, autosomal recessive 29 3
Deafness, autosomal recessive 8 3
Deficiency of 2-methylbutyryl-CoA dehydrogenase 3
Deficiency of pyrroline-5-carboxylate reductase 3
Desbuquois dysplasia 1 3
Diamond-Blackfan anemia 3
Dilated cardiomyopathy 1KK 3
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 3
Distal arthrogryposis type 2B 3
Dominant hereditary optic atrophy 3
Dyskeratosis congenita autosomal dominant 3
Dystonia 12 3
Dystonia 5, Dopa-responsive type; GTP cyclohydrolase I deficiency 3
Dystrophic epidermolysis bullosa 3
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES 3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 3
Early infantile epileptic encephalopathy 10 3
Early infantile epileptic encephalopathy 8 3
Ehlers-Danlos syndrome 3
Ehlers-Danlos syndrome, hydroxylysine-deficient 3
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 3
Endometrial carcinoma 3
Epidermolysis bullosa, junctional 3
Epilepsy 3
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 3
Epileptic encephalopathy, early infantile, 19 3
Epileptic encephalopathy, early infantile, 25 3
Erythropoietic protoporphyria 3
Estrogen resistance 3
Extra oral halitosis 3
FG syndrome 3
Factor VII deficiency 3
Familial exudative vitreoretinopathy 3
Familial juvenile gout 3
Familial restrictive cardiomyopathy 3
Fanconi anemia, complementation group D2 3
GLUT1 deficiency syndrome 1 3
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 3
Gangliosidosis GM1 type 3 3
Geroderma osteodysplastica 3
Gingival fibromatosis 1 3
Global developmental delay; Seizures; Muscular hypotonia 3
Glycogen storage disease, type IV 3
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 3
Gorlin syndrome; Medulloblastoma 3
Gracile bone dysplasia 3
Gyrate atrophy 3
Hemochromatosis type 1 3
Hemoglobinopathy 3
Hereditary lymphedema 3
Hermansky-Pudlak syndrome 6 3
Heterotaxia 3
Homocysteinemia due to MTHFR deficiency 3
Hyaline fibromatosis syndrome 3
Hyperkalemic Periodic Paralysis Type 1 3
Hyperlipoproteinemia, type I 3
Hyperphosphatasia-intellectual disability syndrome 3
Hypoglycemia with deficiency of glycogen synthetase in the liver 3
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 3
Hypothyroidism, congenital, nongoitrous, 1 3
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 3
Intellectual developmental disorder with dysmorphic facies and ptosis 3
Isolated growth hormone deficiency type 1B 3
Joubert syndrome 7 3
Kallmann syndrome 1 3
Kallmann syndrome 2 3
Kallmann syndrome 6 3
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 3
Koolen-de Vries syndrome 3
Lamb-shaffer syndrome 3
Leber congenital amaurosis 1 3
Leber congenital amaurosis 13 3
Leukemia, acute myeloid, susceptibility to 3
Leukemoid Reaction 3
Leukocyte adhesion deficiency type 1 3
Leukodystrophy, hypomyelinating, 10 3
Leukodystrophy, hypomyelinating, 6 3
Lissencephaly 2, X-linked 3
Lissencephaly, X-linked 3
Liver failure acute infantile 3
Loeys-Dietz syndrome 1 3
Lymphoproliferative syndrome 1, X-linked 3
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 3
Malignant Colorectal Neoplasm 3
Malignant tumor of floor of mouth 3
Malignant tumor of prostate 3
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 3
Maternal diabetes 3
Maturity-onset diabetes of the young, type 4 3
Melanoma-pancreatic cancer syndrome 3
Mental retardation, X-linked 1 3
Mental retardation, autosomal dominant 14 3
Mental retardation, autosomal dominant 15 3
Mental retardation, autosomal dominant 19 3
Mental retardation, autosomal dominant 22 3
Mental retardation, autosomal dominant 23 3
Mental retardation, autosomal dominant 32 3
Mevalonic aciduria; Porokeratosis, disseminated superficial actinic 1; Hyperimmunoglobulin D with periodic fever 3
Microcephalic osteodysplastic primordial dwarfism type 2 3
Microcephaly-capillary malformation syndrome 3
Microphthalmia, isolated 5 3
Mitochondrial encephalomyopathy; Global developmental delay 3
Mitochondrial trifunctional protein deficiency 3
Mucopolysaccharidosis type I 3
Mucopolysaccharidosis type VII 3
Mucopolysaccharidosis, MPS-IV-B 3
Multiple congenital anomalies-hypotonia-seizures syndrome 2 3
Muscle AMP deaminase deficiency 3
Myasthenic syndrome, congenital, 22 3
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 3
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 3
Myelofibrosis 3
Myofibrillar myopathy 3
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 3
NEPHROTIC SYNDROME, TYPE 18 3
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY 3
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 3
Nemaline myopathy 6 3
Nemaline myopathy 8 3
Neoplasm of the colon 3
Nephrotic syndrome, type 7 3
Neurodegeneration with brain iron accumulation 2b 3
Neuroendocrine neoplasm 3
Niemann-Pick disease, type C 3
Nonaka myopathy 3
Nonsyndromic hearing loss 3
Oculocutaneous albinism 3
Oculocutaneous albinism type 4 3
Oculofaciocardiodental syndrome 3
Osteogenesis imperfecta type 7 3
Osteogenesis imperfecta type 8 3
Osteoporosis with pseudoglioma 3
PIK3CA related overgrowth spectrum 3
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 3
Paroxysmal familial ventricular fibrillation 1 3
Pelizaeus-Merzbacher disease 3
Pena-Shokeir syndrome type I 3
Peripheral neuropathy 3
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Persistent hyperinsulinemic hypoglycemia of infancy; Leucine-induced hypoglycemia; Diabetes mellitus type 2 3
Peroxisome biogenesis disorder 4a (zellweger) 3
Pituitary hormone deficiency, combined 1 3
Platelet glycoprotein IV deficiency 3
Polyarteritis nodosa, childhoood-onset 3
Polycystic liver disease 3
Polymicrogyria, bilateral frontoparietal 3
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 3
Pontocerebellar hypoplasia type 1A 3
Primary amenorrhea 3
Primary pulmonary hypertension 3
Pseudoexfoliation glaucoma 3
Pseudohermaphroditism 3
Radial aplasia-thrombocytopenia syndrome 3
Recombinase activating gene 2 deficiency; Primary immunodeficiency 3
Renal tubular acidosis, distal, autosomal recessive 3
Retinitis pigmentosa 40 3
Rhabdomyosarcoma 3
Robinow syndrome 3
SDHB-Related Disorders 3
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 3
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 3
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY 3
SLC26A4-Related Disorders 3
SPATA7-Related Disorders 3
SPINOCEREBELLAR ATAXIA 47 3
SQUALENE SYNTHASE DEFICIENCY 3
Salt and pepper developmental regression syndrome 3
Scapulohumeral muscular dystrophy 3
Schimke immunoosseous dysplasia 3
Schindler disease, type 1 3
Seckel syndrome 1 3
Semilobar holoprosencephaly 3
Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormality of cellular immune system; Abnormality of T cell physiology; Combined immunodeficiency 3
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 3
Short stature, optic nerve atrophy, and Pelger-Huet anomaly 3
Simpson-Golabi-Behmel syndrome 3
Sitosterolemia 3
Speech-language disorder 1 3
Spherocytosis type 4 3
Spinal muscular atrophy 3
Spinal muscular atrophy, distal, autosomal recessive, 5 3
Spinocerebellar ataxia 14 3
Spinocerebellar ataxia 5 3
Spinocerebellar ataxia, autosomal recessive 16 3
Stickler syndrome, type 2 3
Sudden cardiac death 3
Syndromic Infantile Encephalopathy 3
TNF receptor-associated periodic fever syndrome (TRAPS) 3
Tooth agenesis, selective, X-linked, 1 3
Transposition of the great arteries, dextro-looped 1 3
Treacher Collins syndrome 1 3
Tuberous sclerosis syndrome 3
Ulnar deviation of the wrist 3
Ventricular tachycardia, catecholaminergic polymorphic, 2 3
Visceral heterotaxy 5, autosomal 3
Waardenburg syndrome 3
Waardenburg syndrome type 4B 3
Weaver syndrome 3
X-linked hereditary motor and sensory neuropathy 3
Xeroderma pigmentosum, group D 3
Xeroderma pigmentosum, group G 3
Xeroderma pigmentosum, variant type 3
Young Simpson syndrome 3
atypical cerebral palsy 3
intellectual deficiency 3
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3
46,XY sex reversal, type 7 2
ATR-X syndrome 2
Abnormal bleeding; Prolonged bleeding time 2
Acanthosis nigricans 2
Achondrogenesis, type IA 2
Achondrogenesis, type IB; Atelosteogenesis type 2; Multiple epiphyseal dysplasia 4; Diastrophic dysplasia 2
Achromatopsia 2 2
Acrocallosal syndrome, Schinzel type 2
Acromesomelic dysplasia Maroteaux type; Epiphyseal chondrodysplasia, miura type 2
Acute myeloid leukemia; Tatton-Brown-rahman syndrome 2
Acute neuronopathic Gaucher's disease 2
Acyl-CoA dehydrogenase family, member 9, deficiency of 2
Adolescent nephronophthisis 2
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2
Aicardi Goutieres syndrome 3 2
Aicardi Goutieres syndrome 5 2
Aicardi-Goutieres syndrome 7 2
Alexander Disease 2
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2
Alzheimer disease, type 3 2
Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Cardiomyopathy, dilated, 1u; Acne inversa, familial, 3 2
Andersen Tawil syndrome 2
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 2
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2
Angiosarcoma 2
Aortic aneurysm, familial thoracic 6 2
Arrhythmogenic right ventricular cardiomyopathy, type 8 2
Arterial calcification of infancy 2
Arthrogryposis, distal, with impaired proprioception and touch 2
Ataxia, spastic, 2, autosomal recessive 2
Atrial septal defect 2
Atrial septal defect 7 with or without atrioventricular conduction defects 2
Atrial septal defect; Short stature; Feeding difficulties; Hypoglycemia; Growth delay; Congestive heart failure; Macrotia; Macrocephalus; Small for gestational age; Cardiac shunt; Gastroesophageal reflux; Neonatal respiratory distress 2
Atypical hemolytic-uremic syndrome 2 2
Atypical hemolytic-uremic syndrome 3 2
Atypical hemolytic-uremic syndrome 5 2
Autoimmune lymphoproliferatiVe syndrome, type V 2
Autosomal dominant hypohidrotic ectodermal dysplasia 2
Autosomal recessive axonal neuropathy with neuromyotonia 2
Autosomal recessive congenital ichthyosis 4A 2
Autosomal recessive congenital ichthyosis 5 2
Autosomal recessive cutis laxa type 1B 2
Bainbridge-Ropers syndrome 2
Bardet-Biedl syndrome 13 2
Bardet-Biedl syndrome 16 2
Bare lymphocyte syndrome type 1 2
Beaulieu-Boycott-Innes syndrome 2
Benign familial neonatal seizures 2 2
Beta-sarcoglycanopathy 2
Bilirubin, serum level of, quantitative trait locus 1; Crigler Najjar syndrome, type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert's syndrome 2
Biotin-thiamine-responsive basal ganglia disease 2
Bone fragility with contractures, arterial rupture, and deafness 2
Brain malformations and urinary tract defects 2
Brain small vessel disease with hemorrhage 2
Branchiootic syndrome; Melnick-Fraser syndrome; Otofaciocervical syndrome 1 2
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2
Brown-Vialetto-Van Laere syndrome 1 2
Bull's eye maculopathy 2
C-like syndrome 2
CC2D2A-Related Disorders 2
CEP290-Related Disorders 2
COFFIN-SIRIS SYNDROME 6 2
COL4A3-Related Disorders 2
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 2
Canavan Disease, Familial Form 2
Cardiac arrest 2
Cardiac arrhythmia, ankyrin B-related 2
Cardiomyopathy, familial hypertrophic, 26 2
Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; Carnitine palmitoyltransferase II deficiency, lethal neonatal; Encephalopathy, acute, infection-induced, 4, susceptibility to 2
Cataract, congenital zonular, with sutural opacities 2
Cataract; Nystagmus; Retinal dystrophy; Severe Myopia 2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 2
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 2
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate 3; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive 2
Charcot-Marie-Tooth disease, axonal, type 2Q 2
Charcot-Marie-Tooth disease, axonal, type 2T 2
Charcot-Marie-Tooth disease, demyelinating, type 1b 2
Charcot-Marie-Tooth disease, dominant intermediate E 2
Cholecystitis 2
Chondrodysplasia punctata 1, X-linked recessive 2
Chordoma 2
Choroideremia 2
Chromosome 16p12.1 deletion syndrome, 520-kb 2
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2
Ciliary dyskinesia, primary, 30 2
Ciliary dyskinesia, primary, 9 2
Cleft of soft palate; Talipes equinovarus; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly 2
Coffin-Siris syndrome 2
Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 2
Colorectal cancer 2
Colorectal cancer 10 2
Colorectal cancer, susceptibility to, 12 2
Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2
Combined malonic and methylmalonic aciduria 2
Combined oxidative phosphorylation deficiency 12 2
Combined oxidative phosphorylation deficiency 17 2
Combined oxidative phosphorylation deficiency 31 2
Combined oxidative phosphorylation deficiency 32 2
Combined oxidative phosphorylation deficiency 8 2
Common variable immunodeficiency 2 2
Complement component 9 deficiency 2
Cone dystrophy 4 2
Cone-rod dystrophy 12 2
Congenital disorder of deglycosylation 2
Congenital disorder of glycosylation type 1D 2
Congenital dyserythropoietic anemia, type I 2
Congenital generalized lipodystrophy type 2 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2
Congenital heart defects, multiple types, 2 2
Congenital heart defects, multiple types, 4 2
Congenital heart disease (variable) 2
Congenital ichthyosis of skin 2
Congenital muscular dystrophy; Muscular Diseases; Respiratory insufficiency 2
Congenital myopathy with fiber type disproportion 2
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Nephropathy; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 2
Congenital primary aphakia 2
Cornelia de Lange syndrome 4 2
Cortical dysplasia, complex, with other brain malformations 1 2
Cortical dysplasia, complex, with other brain malformations 3 2
Cranioectodermal dysplasia 2 2
Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5 2
Cryptophthalmos syndrome 2
Cryptorchidism; Global developmental delay; Seizures; Abnormality of the anterior fontanelle; Macrocephalus; Deep plantar creases; Abnormality of the cerebral white matter; Central hypotonia 2
Cyclical neutropenia 2
Cystinosis 2
Cystinosis, ocular nonnephropathic; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2
Dandy-Walker syndrome; Global developmental delay; Hypoplasia of the corpus callosum; Cerebellar atrophy; Attention deficit hyperactivity disorder; Muscular hypotonia 2
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 2
Deafness, autosomal dominant 36 2
Deafness, autosomal dominant 9 2
Deafness, autosomal recessive 18b 2
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 2
Deafness, autosomal recessive 23 2
Deafness, autosomal recessive 49 2
Deafness, autosomal recessive 63 2
Deficiency of carnitine acetyltransferase 2
Deficiency of isobutyryl-CoA dehydrogenase 2
Deficiency of xanthine oxidase 2
Dent disease 1 2
Denticles 2
Dextrocardia 2
Diabetes mellitus AND insipidus with optic atrophy AND deafness 2
Diabetes mellitus type 1 2
Diarrhea 8, secretory sodium, congenital 2
Dihydropyrimidinase deficiency 2
Dilated Cardiomyopathy, Dominant 2
Dilated cardiomyopathy 1II 2
Donnai Barrow syndrome 2
Dyskeratosis congenita X-linked 2
Dystonia 1 2
Dystonia 10 2
Dystonia 6, torsion 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 2
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2
Early infantile epileptic encephalopathy 5 2
Ehlers-Danlos syndrome, musculocontractural type 2
Emery-Dreifuss muscular dystrophy 1, X-linked 2
Encephalocraniocutaneous lipomatosis 2
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 2
Encephalopathy, acute, infection-induced, 3, suceptibility to 2
Ependymoma 2
Epidermolysis bullosa junctionalis with pyloric atresia 2
Epilepsy, childhood absence 5 2
Epilepsy, familial focal, with variable foci 3 2
Epilepsy, progressive myoclonic 7 2
Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis 2
Epileptic encephalopathy, early infantile, 24 2
Epileptic encephalopathy, early infantile, 27 2
Epileptic encephalopathy, early infantile, 28 2
Epileptic encephalopathy, early infantile, 37 2
Epileptic encephalopathy, early infantile, 42 2
Epileptic encephalopathy, early infantile, 49 2
Erythroderma; Increased IgE level 2
Esophageal Squamous Cell Carcinoma 2
Essential thrombocythemia 2
Facial dysmorphism, immunodeficiency, livedo, and short stature 2
Facioscapulohumeral muscular dystrophy 2 2
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 2
Familial cancer of breast; Ataxia-telangiectasia syndrome 2
Familial colorectal cancer 2
Familial hemiplegic migraine type 1 2
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2
Familial hypertrophic cardiomyopathy 11 2
Familial hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 2
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 2
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2
Familial partial lipodystrophy 2 2
Familial renal glucosuria 2
Fanconi-Bickel syndrome 2
Farber disease 2
Fitzsimmons-Guilbert syndrome 2
Focal segmental glomerulosclerosis 1 2
GBE1-Related Disorders 2
GLUT1 deficiency syndrome 1, autosomal recessive 2
GM1 gangliosidosis 2
GPSM2-Related Disorders 2
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 2
Galloway-Mowat syndrome 1 2
Generalized epilepsy and paroxysmal dyskinesia 2
Ghosal syndrome; Thromboxane synthetase deficiency 2
Global developmental delay; Abnormality of cardiovascular system morphology; Abnormal facial shape; Brainstem dysplasia 2
Global developmental delay; Expressive language delay; Postnatal microcephaly 2
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 2
Global developmental delay; Microcephaly 2
Global developmental delay; Seizures 2
Global developmental delay; Seizures; Intellectual disability; CNS hypomyelination; Brain atrophy; Muscular hypotonia 2
Glucocorticoid deficiency with achalasia 2
Glycogen storage disease 2
Glycogen storage disease IXb 2
Glycogen storage disease, type VII 2
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 2
Growth delay; Craniosynostosis; Trident hand; Limb undergrowth 2
Growth delay; Delayed speech and language development; Intellectual disability; Periventricular leukomalacia; Atrophy/Degeneration affecting the brainstem; Corneal opacity; Delayed myelination 2
Hammertoe; Difficulty walking; Inability to walk; Progressive muscle weakness; Lower limb muscle weakness 2
Hartsfield syndrome 2
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertension 2
Hearing loss 2
Hemochromatosis type 4 2
Hereditary motor and sensory neuropathy with optic atrophy 2
Hereditary nephrotic syndrome 2
Hermansky-Pudlak syndrome 3 2
Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2
Holoprosencephaly 3 2
Holoprosencephaly 5 2
Hydrocephalus, congenital, 2, with or without brain or eye anomalies 2
Hyperammonemia, type III 2
Hypercalcemia, infantile, 2 2
Hypercholesterolemia, autosomal dominant, type B 2
Hyperinsulinism due to HNF4A deficiency 2
Hyperphosphatasia with mental retardation syndrome 2 2
Hypertrichotic osteochondrodysplasia 2
Hypogonadotropic hypogonadism 7 with or without anosmia; Cerebellar ataxia; Dysarthria 2
Hypokalemic periodic paralysis 1; Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2
Hypoplasia of the fovea; Albinism; Abnormality of metabolism/homeostasis; Elevated hepatic transaminases; Slow decrease in visual acuity; Choroidal neovascularization 2
Hypotonia, ataxia, and delayed development syndrome 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 2
IMMUNODEFICIENCY 55 2
IRAK4 deficiency 2
Ichthyosis vulgaris 2
Idiopathic hypercalcemia of infancy 2
Immunodeficiency 40 2
Immunodeficiency with hyper IgM type 2 2
Immunodeficiency, common variable, 12 2
Immunodeficiency, common variable, 13 2
Inclusion body myopathy 2; Sialuria 2
Infantile cerebellar-retinal degeneration 2
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2b; Parkinson disease 14 2
Insomnia; Seizures; Heterotopia; Cortical visual impairment; Hypoplasia of the corpus callosum; Microcephaly; Strabismus; Impaired use of nonverbal behaviors; Short foot; Profound global developmental delay; Small hand 2
Intellectual disability; Developmental delay 2
Isolated GnRH Deficiency 2
Joubert syndrome 14 2
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2
Joubert syndrome 28 2
Joubert syndrome; Oligohydramnios; Renal cyst 2
Joubert syndrome; Oral-facial-digital syndrome 2
Kallmann syndrome 3 2
Kallmann syndrome 5 2
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 2
Lamellar cataract 2
Leber congenital amaurosis 2 2
Leber congenital amaurosis 6 2
Leber congenital amaurosis 7 2
Leber congenital amaurosis 8 2
Leber plus disease 2
Left ventricular noncompaction 2
Left ventricular noncompaction 7 2
Lethal congenital contracture syndrome 7 2
Leukodystrophy, hypomyelinating, 2