ClinVar Miner

Variants reported as likely benign

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Total variants: 257593
Total variants unanimously reported as likely benign: 197204

Breakdown by submitter #

Total submitters: 267
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Submitter Variants
Invitae 165022
GeneDx 42766
Ambry Genetics 21570
Illumina Clinical Services Laboratory,Illumina 20845
Color Health, Inc 16429
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6207
PreventionGenetics, PreventionGenetics 5264
Genetic Services Laboratory, University of Chicago 5178
CeGaT Praxis fuer Humangenetik Tuebingen 4588
Integrated Genetics/Laboratory Corporation of America 3526
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3052
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2628
Natera, Inc. 2364
Quest Diagnostics Nichols Institute San Juan Capistrano 2346
Counsyl 2228
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1851
Athena Diagnostics Inc 1814
Department of Pathology and Laboratory Medicine,Sinai Health System 1512
Mendelics 1464
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1179
ISCA site 1 980
ISCA site 4 838
Molecular Genetics Laboratory,London Health Sciences Centre 834
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 793
University of Washington Department of Laboratory Medicine, University of Washington 773
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 743
Mayo Clinic Laboratories, Mayo Clinic 726
ISCA site 6 673
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 587
Center for Human Genetics, Inc,Center for Human Genetics, Inc 489
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 464
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 435
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 429
True Health Diagnostics 373
Genome Diagnostics Laboratory,University Medical Center Utrecht 334
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 308
ISCA site 19 233
Leiden Open Variation Database 226
Sharing Clinical Reports Project (SCRP) 223
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 222
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 210
CSER _CC_NCGL, University of Washington 187
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 186
LDLR-LOVD, British Heart Foundation 182
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 165
Institute of Human Genetics, University of Leipzig Medical Center 161
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 123
Broad Institute Rare Disease Group, Broad Institute 116
Service de Génétique Moléculaire,Hôpital Robert Debré 110
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 106
Blueprint Genetics 104
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 100
Clinical Genetics, Erasmus University Medical Center 99
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 95
Centre for Mendelian Genomics,University Medical Centre Ljubljana 85
Robarts Research Institute,Western University 84
Johns Hopkins Genomics, Johns Hopkins University 83
Genomic Research Center, Shahid Beheshti University of Medical Sciences 77
Genetics and Genomics Program,Sidra Medicine 76
Medical Research Institute,Tokyo Medical and Dental University 74
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 72
ClinGen RASopathy Variant Curation Expert Panel 60
Department of Ophthalmology and Visual Sciences Kyoto University 58
Fulgent Genetics,Fulgent Genetics 52
Paul Sabatier University EA-4555, Paul Sabatier University 50
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 50
Michigan Medical Genetics Laboratories,University of Michigan 43
Pathway Genomics 42
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 40
Nilou-Genome Lab 36
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 35
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 35
Pars Genome Lab 35
Vantari Genetics 34
HerediLab, Inc. 32
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 30
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 30
ClinGen CDH1 Variant Curation Expert Panel 27
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 24
Genome Diagnostics Laboratory, The Hospital for Sick Children 23
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 23
NIHR Bioresource Rare Diseases, University of Cambridge 22
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 22
Stanford Center for Inherited Cardiovascular Disease, Stanford University 21
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 21
ClinGen Hearing Loss Variant Curation Expert Panel 21
CHU Sainte-Justine Research Center,University of Montreal 20
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 19
ClinGen PTEN Variant Curation Expert Panel 19
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 19
Génétique des Maladies du Développement, Hospices Civils de Lyon 18
ClinGen TP53 Variant Curation Expert Panel,ClinGen 18
GeneKor MSA 17
Knight Diagnostic Laboratories, Oregon Health and Sciences University 17
Diagnostic Laboratory, Strasbourg University Hospital 17
SIB Swiss Institute of Bioinformatics 17
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 17
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 17
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 16
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 15
ClinGen Myeloid Malignancy Variant Curation Expert Panel 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 14
RettBASE 14
Center for Medical Genetics Ghent,University of Ghent 14
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 14
Institute for Integrative and Experimental Genomics,University of Luebeck 13
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 13
Cancer Genomics Group,Japanese Foundation For Cancer Research 13
Clinical Genetics laboratory, University of Goettingen 12
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 12
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 12
Department of Medical Genetics, University Hospital of North Norway 12
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 12
GeneReviews 11
Gharavi Laboratory,Columbia University 11
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 11
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 11
Center of Medical Genetics and Primary Health Care 10
Inherited Neuropathy Consortium 10
Elsea Laboratory,Baylor College of Medicine 9
Faculté Pluridciplinaire Nador,Université Mohamed Premier 9
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8
Claritas Genomics 7
PXE International 7
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 7
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 7
Phosphorus, Inc. 7
Schule lab,Hertie Institute for Clinical Brain Research 7
Reproductive Health Research and Development,BGI Genomics 7
University of Washington Center for Mendelian Genomics, University of Washington 6
Department of Pathology and Molecular Medicine,Queen's University 6
Genome Medicine,Institute for Basic Research in Developmental Disabilities 6
CeMIA 6
New York Genome Center 6
Baylor Genetics 5
Division of Human Genetics,Medical University Innsbruck 5
Northcott Neuroscience Laboratory, ANZAC Research Institute 5
ISCA site 7 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5
Centre for Genomic and Experimental Medicine,University of Edinburgh 5
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 5
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 5
Research and Development, ARUP Laboratories 5
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 5
Fundacion Hipercolesterolemia Familiar 5
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 5
Department of Human Genetics, University Hospital Magdeburg 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 5
ACT Genomics, 5
Institute of Human Genetics,Cologne University 4
Inserm U 954, Faculté de Médecine de Nancy 4
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 4
Cytogenetics and Genomics Laboratory,University of Washington 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 4
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 4
MVZ Praenatalmedizin und Genetik Nuernberg 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 4
SingHealth Duke-NUS Institute of Precision Medicine 4
ClinGen PAH Variant Curation Expert Panel 4
3DMed Clinical Laboratory Inc 4
Cavalleri Lab, Royal College of Surgeons in Ireland 4
Institute of Reproductive Genetics, University of Münster 4
INGEBI, INGEBI / CONICET 4
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 4
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 3
State Key Lab of Medical Genetics, Central South University 3
Atomic Energy Commission of Syria (AECS) 3
Laboratory of Human Genetics,Universidade de São Paulo 3
Cytogenetics Laboratory,Banaras Hindu University 3
Center for Human Genetics,University of Leuven 3
Myllykangas group,University of Helsinki 3
Neurogenetics Research Program, University of Adelaide 3
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 3
Breda Genetics srl 3
Centre for Medical Genetics, Mumbai 3
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 3
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 3
Department of Human Genetics,University of the Free State 3
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2
UniProtKB/Swiss-Prot 2
Birmingham Platelet Group; University of Birmingham 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
ISCA site 3 2
Department of Hematology,University of Health Sciences 2
Hadassah Hebrew University Medical Center 2
Rui Chen Lab,Baylor College of Medicine 2
Iberoamerican FH Network 2
Department of Medical Sciences,Uppsala University 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 2
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics,Hospital Universitario Hospital La Paz 2
University of Iowa Renal Genetics Clinic,University of Iowa 2
Cell and Molecular Biology Laboratory,University of the Punjab Lahore 2
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 2
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 2
Pecori Giraldi Lab,University of Milan 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1
MGZ Medical Genetics Center 1
MVZ Dr. Eberhard & Partner Dortmund 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1
Versiti Diagnostic Laboratories,Versiti, Inc 1
Lineagen, Inc 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1
Eye Genetics Research Group,Children's Medical Research Institute 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1
Laboratorio de Genetica Humana; Universidad de los Andes 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1
Section on Translational Neuroscience,Molecular Medicine Program; NICHD; National Institutes of Health 1
Congenital Heart Disease Genetic Program Lab,American University of Beirut 1
ISCA site 18 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 1
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1
Deafness Gene Diagnosis,Xijing Hospital 1
Department of Endocrinology and Metabolism,The First Affiliated Hospital of Sun Yet-sen University 1
Karolinska institutet 1
Abrahams Lab,Albert Einstein College of Medicine 1
Division of Human Genetics,Children's Hospital of Philadelphia 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1
Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University 1
Institute of Human Genetics,University of Wuerzburg 1
GenePathDx,Causeway Health Care Private Ltd 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1
Undiagnosed Diseases Network,NIH 1
The Genetics Institute,Rambam Health Care Campus 1
Genetic Laboratory,Instituto Nacional de Cancer 1
KK Women’s and Children’s Hospital 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 1
Dept of Molecular Biology and Genetics,Bogazici University 1
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 1
SBielas Lab, Department of Human Genetics,University of Michigan 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 1
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 1
Biomedical Innovation Departament, CIEMAT 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1
Institute of Experimental Epileptology and Cognition Research,University of Bonn 1
Lab. Molecular Oncology,VUB, Free University of Brussels 1
Polak associated Lab,IMAGINE Institute 1
International Hereditary Cancer Center PUM,Pomeranian Medical University 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1
Clinical Genetics, Amsterdam Medical Centre 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 1
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 1
Noelle C. Anastasio Laboratory,University of Texas Medical Branch 1
Institute of Genomic Medicine, Catholic University 1
Laboratory of Genetic Engineering, National Research Center for Hematology 1
Pediatric Oncology, Johns Hopkins University 1
Laboratory of Genetics in Ophthalmology,Institut Imagine 1
MNM Diagnostics 1
GenomeConnect - Simons Searchlight 1

Breakdown by condition #

Total conditions: 3602
Download table as spreadsheet
Condition Variants
not provided 97583
not specified 53260
Hereditary cancer-predisposing syndrome 22673
Cardiomyopathy 3553
See cases 3488
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 3145
Cardiovascular phenotype 3028
Hereditary breast and ovarian cancer syndrome 2415
History of neurodevelopmental disorder 2185
Hereditary nonpolyposis colorectal neoplasms 1861
Familial thoracic aortic aneurysm and aortic dissection 1757
Primary ciliary dyskinesia 1653
Ataxia-telangiectasia syndrome 1316
Nemaline myopathy 2 1281
Long QT syndrome 1274
Early infantile epileptic encephalopathy with suppression bursts 1245
Fanconi anemia 1177
Familial hypercholesterolemia 1167
Breast-ovarian cancer, familial 2 1163
Tuberous sclerosis 2 1151
Familial cancer of breast 1128
Neurofibromatosis, type 1 1039
Colorectal cancer, susceptibility to, 12 1036
Spastic paraplegia 1003
none provided 1003
Hypertrophic cardiomyopathy 986
Familial adenomatous polyposis 1 920
Charcot-Marie-Tooth disease 838
Rhabdoid tumor predisposition syndrome 2 809
Intellectual disability 795
Arrhythmia 786
Gastrointestinal stromal tumor 755
Epileptic encephalopathy 711
Breast-ovarian cancer, familial 1 695
Colorectal cancer 10 660
Epidermolysis bullosa simplex with 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 657
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 652
Bethlem myopathy 1 635
Gorlin syndrome 634
Charcot-Marie-Tooth disease type 4 616
Catecholaminergic polymorphic ventricular tachycardia 612
RYR1-Related Disorders 600
Seizures 597
Autosomal recessive polycystic kidney disease 572
Brugada syndrome 570
Alstrom syndrome 564
Baller-Gerold syndrome 555
Duchenne muscular dystrophy 546
Charcot-Marie-Tooth disease, type 2 525
Cohen syndrome 513
Bardet-Biedl syndrome 508
Malignant tumor of breast 496
Hereditary diffuse gastric cancer 461
Tuberous sclerosis 1 456
Neuroblastoma 3 454
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 450
Laminin alpha 2-related dystrophy 434
Retinitis pigmentosa 426
Leigh syndrome 420
Neuronal ceroid lipofuscinosis 414
Qualitative or quantitative defects of dysferlin 406
Ellis-van Creveld syndrome; Curry-Hall syndrome 405
Charcot-Marie-Tooth disease, axonal, type 2O 399
Oligodontia-colorectal cancer syndrome 399
Connective tissue disease 390
Rasopathy 386
Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 385
Joubert syndrome; Meckel-Gruber syndrome 384
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 382
Familial hypercholesterolemia 1 380
Familial cancer of breast; Fanconi anemia, complementation group J 379
Ehlers-Danlos syndrome, classic type 374
Adams-Oliver syndrome 5 361
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 356
Multiple endocrine neoplasia, type 2 350
Bloom syndrome 346
Peutz-Jeghers syndrome 336
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 322
Glycogen storage disease, type II 322
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 311
Microcephaly, normal intelligence and immunodeficiency 309
Werner syndrome 306
Nephronophthisis 303
Non-ketotic hyperglycinemia 297
Dilated cardiomyopathy 1G 296
Aortic aneurysm, familial thoracic 4 287
Bare lymphocyte syndrome 2 285
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 285
Mitochondrial complex II deficiency; Paragangliomas 5 275
Progressive sclerosing poliodystrophy 271
Cystic fibrosis 270
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 270
Wilson disease 269
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 268
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 263
Autosomal dominant nocturnal frontal lobe epilepsy 257
MYH-associated polyposis 257
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 253
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 252
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 249
Primary dilated cardiomyopathy 247
Perlman syndrome 244
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 241
Maple syrup urine disease 239
Multiple endocrine neoplasia, type 1 238
Juvenile polyposis syndrome 236
Beckwith-Wiedemann syndrome 235
Myasthenic syndrome, congenital, 8 233
Tumor susceptibility linked to germline BAP1 mutations 233
Aortic aneurysm, familial thoracic 7 232
Ehlers-Danlos syndrome dermatosparaxis type 230
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 228
Niemann-Pick disease type C1 228
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 228
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 224
Retinoblastoma 223
Congenital contractural arachnodactyly 221
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 220
Myopathy, myofibrillar, 9, with early respiratory failure 219
Li-Fraumeni syndrome 214
Spastic paraplegia 49, autosomal recessive 214
Kleefstra syndrome 1 209
Propionic acidemia 209
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 204
Glycogen storage disease type III 203
Multiple fibrofolliculomas 202
CHARGE association 201
Early myoclonic encephalopathy 201
Spastic paraplegia 11, autosomal recessive 200
Pyruvate carboxylase deficiency 199
PTEN hamartoma tumor syndrome 198
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 198
Hereditary melanoma 197
Alpha thalassemia-X-linked intellectual disability syndrome 195
Polycystic kidney disease 195
Renal cell carcinoma 195
Romano-Ward syndrome 194
Early infantile epileptic encephalopathy 12 193
Myopathy, early-onset, with fatal cardiomyopathy 193
Dyskeratosis congenita 191
Glucose-6-phosphate transport defect 190
Hereditary insensitivity to pain with anhidrosis 190
Familial hypertrophic cardiomyopathy 14 189
Limb-girdle muscular dystrophy, type 2J 181
EGFR-related lung cancer 179
Pitt-Hopkins-like syndrome 2 179
Epilepsy, focal, with speech disorder and with or without mental retardation 178
Lynch syndrome 177
Chédiak-Higashi syndrome 176
Deficiency of alpha-mannosidase 176
Dilated cardiomyopathy 1DD 172
Hereditary Paraganglioma-Pheochromocytoma Syndromes 171
Brugada syndrome 8 170
Breast-ovarian cancer, familial 4 169
Developmental and epileptic encephalopathy 94 169
Familial hyperkalemic periodic paralysis 169
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 169
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 166
Mental retardation, autosomal dominant 1 166
Generalized juvenile polyposis/juvenile polyposis coli 165
Hereditary hemochromatosis 165
Very long chain acyl-CoA dehydrogenase deficiency 165
Immunodeficiency 26 with or without neurologic abnormalities 164
Neurofibromatosis, type 2 164
Pitt-Hopkins-like syndrome 1 162
Congenital hyperammonemia, type I 159
Limb-girdle muscular dystrophy, type 2A 159
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 158
Hereditary sensory neuropathy type IE 156
Inborn genetic diseases 156
Ehlers-Danlos syndrome, type 4 155
Joubert syndrome 155
Glycogen storage disease, type V 154
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 152
Parathyroid carcinoma 151
Galactosylceramide beta-galactosidase deficiency 150
Mucopolysaccharidosis type 1 150
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 150
Common variable immunodeficiency 8, with autoimmunity 149
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 149
Idiopathic generalized epilepsy 149
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 149
Retinitis pigmentosa 12; Leber congenital amaurosis 8 149
Familial focal epilepsy with variable foci 148
Epileptic encephalopathy, early infantile, 30 147
Walker-Warburg congenital muscular dystrophy 147
Mucolipidosis type IV 146
Retinitis Pigmentosa, Recessive 145
Luscan-lumish syndrome 144
Arrhythmogenic right ventricular dysplasia 9 143
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 143
Melanoma, cutaneous malignant, susceptibility to, 10 142
Mental retardation, autosomal dominant 5 142
Classic homocystinuria 141
Fumarase deficiency 141
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 141
Neuromuscular disease, congenital, with uniform type 1 fiber 140
Ehlers-Danlos syndrome, type 7A 139
Arrhythmogenic right ventricular cardiomyopathy, type 10 138
Collagen VI-related myopathy 138
Dystonia 12 136
Fanconi anemia, complementation group O 136
Carcinoma of colon 135
Dilated Cardiomyopathy, Dominant 134
Epileptic encephalopathy, early infantile, 23 134
Left ventricular noncompaction 8 134
Myasthenic syndrome, congenital, 4a, slow-channel 134
Koolen-de Vries syndrome 133
Noonan syndrome 133
Progressive myoclonic epilepsy 132
Tibial muscular dystrophy 131
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 130
Saldino-Mainzer syndrome 130
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 129
Autosomal recessive DOPA responsive dystonia 128
Charcot-Marie-Tooth disease, dominant intermediate B 128
Encephalopathy, acute, infection-induced, 3, suceptibility to 128
Marfan syndrome 128
Familial platelet disorder with associated myeloid malignancy 125
Schimke immuno-osseous dysplasia 125
Zellweger syndrome 125
Central core myopathy 124
Autosomal dominant cerebellar ataxia 123
Polyglandular autoimmune syndrome, type 1 122
Macular degeneration 121
Mucolipidosis type II; Pseudo-Hurler polydystrophy 121
Dilated cardiomyopathy 1JJ 120
Metachromatic leukodystrophy 119
Benign familial neonatal seizures 118
Jeune thoracic dystrophy 118
Kabuki syndrome 118
Mucopolysaccharidosis, MPS-III-A 118
Hereditary nonpolyposis colorectal cancer type 5 117
Multiple acyl-CoA dehydrogenase deficiency 117
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 117
Dilated cardiomyopathy 1KK 116
Dilated cardiomyopathy 1O 116
Familial Mediterranean fever 116
Limb-Girdle Muscular Dystrophy, Recessive 116
Renal cell carcinoma, papillary, 1 116
Charcot-Marie-Tooth disease axonal type 2C 115
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 115
Combined malonic and methylmalonic aciduria 114
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 114
Carnitine palmitoyltransferase 1A deficiency 113
Gorlin syndrome; Medulloblastoma 113
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 113
Arrhythmogenic right ventricular cardiomyopathy, type 11 112
Hereditary nonpolyposis colorectal cancer type 7 112
Rigidity and multifocal seizure syndrome, lethal neonatal 111
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 110
Wilms tumor 1 110
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 109
Dilated cardiomyopathy 1W 109
Lynch syndrome I 109
Loeys-Dietz syndrome 108
Emery-Dreifuss muscular dystrophy 107
Holocarboxylase synthetase deficiency 107
Acute myeloid leukemia 106
Autism spectrum disorder 106
Cholestanol storage disease 106
Hereditary spastic paraplegia 39 106
Familial hypercholesterolemia 3 105
Spastic paraplegia 48, autosomal recessive 105
Adrenoleukodystrophy 104
Immunodeficiency 40 104
Carney complex, type 1 102
Dystonia 102
Familial cold autoinflammatory syndrome 3 102
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 102
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 102
Creatine transporter deficiency 101
Epidermodysplasia verruciformis 101
Myofibrillar myopathy, ZASP-related 101
Smith-Lemli-Opitz syndrome 101
Severe combined immunodeficiency due to DCLRE1C deficiency 100
Arrhythmogenic right ventricular cardiomyopathy 99
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 99
Abnormality of esophagus morphology 98
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 98
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 98
FG syndrome 1 98
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 98
Mowat-Wilson syndrome 98
Vici syndrome 98
Mononeuropathy of the median nerve, mild 97
Dilated Cardiomyopathy, Recessive 96
Mitochondrial trifunctional protein deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 96
Argininosuccinate lyase deficiency 95
Bare lymphocyte syndrome type 1 95
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 95
Familial hemiplegic migraine 95
Monogenic diabetes 95
Renal carnitine transport defect 95
Tay-Sachs disease 95
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type 94
Charcot-Marie-Tooth disease type 2P 93
Carnitine palmitoyltransferase II deficiency 92
Lethal multiple pterygium syndrome 92
Phenylketonuria 92
Sphingolipid activator protein 1 deficiency 92
Niemann-Pick disease, type B; Niemann-Pick disease, type A 91
Osteogenesis imperfecta type I 91
Charcot-Marie-Tooth disease, type I 90
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 90
Alpha-1-antitrypsin deficiency 89
Hyperphosphatasia with mental retardation syndrome 2 89
Lynch syndrome II 89
Lysinuric protein intolerance 89
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 88
Familial hemophagocytic lymphohistiocytosis 3 88
Cowden syndrome 6 87
Epilepsy 87
Familial cold autoinflammatory syndrome 2 87
Leber congenital amaurosis 2; Retinitis pigmentosa 20 87
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 87
Multiple endocrine neoplasia, type 4 87
Breast and/or ovarian cancer 86
Myopathy, proximal, and ophthalmoplegia 86
Shprintzen-Goldberg syndrome 86
Early infantile epileptic encephalopathy 34 85
Glutaric aciduria, type 1 85
Meningioma, familial 85
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 85
Blau syndrome; Inflammatory bowel disease 1 84
Tuberous sclerosis syndrome 84
Glycogen storage disease of heart, lethal congenital 83
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 83
Leukocyte adhesion deficiency 1 83
Nephronophthisis 14 83
Epileptic encephalopathy, early infantile, 36 82
Hereditary pancreatitis 82
Peroxisomal acyl-CoA oxidase deficiency 82
Usher syndrome type 1 82
Early infantile epileptic encephalopathy 9 81
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 81
Glycogen storage disease, type VII 80
Mental retardation, X-linked 1 80
Peroxisome biogenesis disorder, complementation group 7 80
Rett syndrome, congenital variant 80
Multiple gastrointestinal atresias 79
Myosclerosis, autosomal recessive 79
Severe combined immunodeficiency due to ADA deficiency 79
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 79
heterogeneous nuclear ribonucleoprotein G, human 79
Alagille syndrome 1 78
Hereditary hemorrhagic telangiectasia 78
Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 78
Majeed syndrome 78
Nephronophthisis 15 78
Progressive familial heart block type IB 78
Autosomal dominant pseudohypoaldosteronism type 1 77
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 77
Hyperammonemia, type III 77
Tyrosinemia type I 77
Wagner syndrome 77
Brugada syndrome 4 76
Epileptic encephalopathy, early infantile, 31 76
Immunodeficiency 51 76
Maple syrup urine disease, type 3 76
Multiple congenital anomalies-hypotonia-seizures syndrome 1 76
Succinate-semialdehyde dehydrogenase deficiency 76
Ataxia-telangiectasia-like disorder 75
Autosomal recessive limb-girdle muscular dystrophy type 2D 75
Charlevoix-Saguenay spastic ataxia 75
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 75
Mental retardation, autosomal recessive 53 75
Mucopolysaccharidosis type 6 75
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 75
Weill-Marchesani syndrome 75
Congenital disorder of glycosylation type 1C 74
Familial hypertrophic cardiomyopathy 1 74
Neuronal ceroid lipofuscinosis 7 74
Phosphoglycerate dehydrogenase deficiency 74
Arrhythmogenic right ventricular cardiomyopathy, type 5 73
Chromosome 2q32-q33 deletion syndrome 73
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 73
Fanconi anemia, complementation group A 73
Mental retardation, autosomal dominant 7 73
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 73
Pityriasis rubra pilaris; Psoriasis susceptibility 2 73
Charcot-Marie-Tooth disease, axonal, type 2z 72
Charcot-Marie-Tooth disease, type 4C 72
Congenital disorder of glycosylation 72
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Myasthenic syndrome, congenital, 17 71
Combined oxidative phosphorylation deficiency 27 71
Costello syndrome 71
Epilepsy, progressive myoclonic, 9; Lipodystrophy, partial, acquired, susceptibility to 71
Microphthalmia, isolated 2 71
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 71
Citrullinemia 70
Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 70
Epileptic encephalopathy, early infantile, 26 70
Familial hypercholesterolemia 4 70
Immunodeficiency 14 70
Polycystic kidney disease, adult type 70
Cowden syndrome 69
Ehlers-Danlos syndrome, hydroxylysine-deficient 69
Juvenile myoclonic epilepsy 69
Pancreatic adenocarcinoma 69
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 69
Severe neonatal-onset encephalopathy with microcephaly 69
Cerebral creatine deficiency syndrome 68
Cone-Rod Dystrophy, Recessive 68
Cutaneous malignant melanoma 5 68
Fabry disease 68
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 68
Age-related macular degeneration 1 67
Immunodeficiency 35 67
Malignant hyperthermia, susceptibility to, 1 67
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 67
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 67
Cardiomyopathy, left ventricular noncompaction 66
Citrin deficiency 66
Cone-rod dystrophy 6; Leber congenital amaurosis 1 66
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 66
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 66
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 66
Epileptic encephalopathy, early infantile, 33 66
Hemophagocytic lymphohistiocytosis, familial, 5 66
Limb-girdle muscular dystrophy, type 2S 66
Multiple sulfatase deficiency 66
Neutral lipid storage myopathy 66
Pitt-Hopkins syndrome 66
Alport syndrome 65
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 65
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 65
Ellis-van Creveld syndrome 65
Fibrous dysplasia of jaw 65
Giant axonal neuropathy 1 65
Isovaleryl-CoA dehydrogenase deficiency 65
Myoclonic-atonic epilepsy 65
Nemaline myopathy 6 65
Usher syndrome, type 2A 65
Autosomal recessive limb-girdle muscular dystrophy type 2B 64
Distal hereditary motor neuronopathy 2D 64
Gastrointestinal stromal tumor; Paragangliomas 3 64
Hereditary hemorrhagic telangiectasia type 1 64
Herpes simplex encephalitis 1 64
Medium-chain acyl-coenzyme A dehydrogenase deficiency 64
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 64
Amelocerebrohypohidrotic syndrome 63
Brody myopathy 63
Cryopyrin associated periodic syndrome 63
Epilepsy, familial focal, with variable foci 3 63
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 63
Familial hypercholesterolemia 2 63
Haddad syndrome 63
Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 63
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 63
Occult macular dystrophy 63
Retinitis Pigmentosa, Dominant 63
Epilepsy, familial adult myoclonic, 5 62
Fanconi anemia, complementation group D1 62
KBG syndrome 62
Leukocyte adhesion deficiency, type III 62
Otospondylomegaepiphyseal dysplasia, autosomal dominant 62
Stickler Syndrome, Dominant 62
Aortic aneurysm, familial thoracic 8 61
Atrial fibrillation, familial, 7 61
Deficiency of galactokinase 61
Epilepsy, hearing loss, and mental retardation syndrome 61
Imerslund-Gräsbeck syndrome 61
Microcephalic osteodysplastic primordial dwarfism type II 61
Congenital disorder of glycosylation, type Ia 60
Dilated cardiomyopathy 1J 60
Familial infantile myasthenia 60
GLUT1 deficiency syndrome 1, autosomal recessive 60
GNE myopathy; Sialuria 60
Mental retardation, autosomal dominant 31 60
Mucopolysaccharidosis, MPS-III-D 60
Myopathy, centronuclear, 2 60
Noonan syndrome 9 60
Parkinson disease 8, autosomal dominant 60
Pheochromocytoma 60
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 60
Primary familial hypertrophic cardiomyopathy 60
Aicardi Goutieres syndrome 5 59
Anophthalmia-microphthalmia syndrome 59
Arterial tortuosity syndrome 59
Candidiasis, familial, 9 59
Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 59
Hereditary fructosuria 59
Netherton syndrome 59
Ocular cystinosis; Juvenile nephropathic cystinosis; not provided 59
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 59
Brittle cornea syndrome 1 58
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 58
Deafness, autosomal recessive 77 58
Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 58
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 58
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 58
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 58
Supravalvar aortic stenosis 58
3 Methylcrotonyl-CoA carboxylase 1 deficiency 57
3-methylcrotonyl CoA carboxylase 2 deficiency 57
Biotin-responsive basal ganglia disease 57
Cardiac arrhythmia, ankyrin B-related 57
Cone-rod dystrophy 13; Leber congenital amaurosis 6 57
Deafness, autosomal dominant 11 57
Epileptic encephalopathy, early infantile, 25 57
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 57
Loeys-Dietz syndrome 4 57
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 57
Neuronal Ceroid-Lipofuscinosis, Recessive 57
Pyridoxine-dependent epilepsy 57
Severe congenital neutropenia 5, autosomal recessive 57
Spinocerebellar ataxia, autosomal recessive 8 57
Catecholaminergic polymorphic ventricular tachycardia type 1 56
FLNB-Related Spectrum Disorders 56
Juvenile myoclonic epilepsy; Typical absence seizures 56
Spinal muscular atrophy, X-linked 2 56
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 55
Elliptocytosis 2 55
Fraser syndrome 1 55
Severe myoclonic epilepsy in infancy 55
Stargardt Disease, Recessive 55
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 54
Choreoacanthocytosis 54
Craniosynostosis syndrome 54
Leber congenital amaurosis 54
Mucopolysaccharidosis, MPS-II 54
Weaver syndrome 54
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1; Paget disease of bone 2, early-onset 53
Common variable immunodeficiency 7 53
Familial dysautonomia 53
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 53
Growth delay due to insulin-like growth factor I resistance 53
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 53
Hereditary nonpolyposis colorectal cancer type 4 53
Hermansky-Pudlak syndrome 2 53
Multiple endocrine neoplasia, type 2a 53
Sandhoff disease 53
Tyrosinemia type II 53
Acrocallosal syndrome 52
Biotinidase deficiency 52
Congenital disorder of glycosylation type 1M 52
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 52
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 52
Deficiency of hyaluronoglucosaminidase 52
Emery-Dreifuss muscular dystrophy 1, X-linked 52
Epilepsy, childhood absence 2; Familial febrile seizures 8 52
Gamma-aminobutyric acid transaminase deficiency 52
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 52
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 52
MPI-CDG 52
Combined oxidative phosphorylation deficiency 14 51
Diamond-Blackfan anemia 51
Donnai-Barrow syndrome 51
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 51
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 51
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 51
Peroxisome biogenesis disorder 9B 51
Progressive myoclonus epilepsy with ataxia 51
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 50
Arrhythmogenic right ventricular dysplasia, familial, 2 50
Autoimmune lymphoproliferative syndrome, type III 50
Chronic granulomatous disease, X-linked 50
Common variable immunodeficiency 10 50
Joubert syndrome 21 50
Legius syndrome 50
Myasthenic syndrome, congenital, 22 50
Neurodevelopmental abnormality 50
Ornithine aminotransferase deficiency 50
Renal hypodysplasia/aplasia 1 50
Thrombophilia due to factor V Leiden 50
von Willebrand disorder 50
Autosomal dominant nonsyndromic deafness 17 49
Candidiasis, familial, 2 49
Charcot-Marie-Tooth disease, axonal, type 2R 49
Osteogenesis imperfecta 49
Severe autosomal recessive muscular dystrophy of childhood - North African type 49
Telangiectasia, hereditary hemorrhagic, type 2 49
Arrhythmogenic right ventricular dysplasia, familial, 13 48
Congenital disorder of deglycosylation 48
Elliptocytosis 48
Epilepsy, childhood absence 1; Epilepsy, childhood absence 5 48
Multiple exostoses type 2 48
Disorders of Intracellular Cobalamin Metabolism 47
Epilepsy, progressive myoclonic 7 47
Geleophysic dysplasia 47
Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 47
Infantile-onset ascending hereditary spastic paralysis 47
Leber congenital amaurosis 13 47
Myopathy, congenital, compton-north 47
Osteogenesis imperfecta type 8 47
Atrioventricular septal defect 4 46
Deficiency of hydroxymethylglutaryl-CoA lyase 46
Infantile spasms 46
Inflammatory bowel disease 28, autosomal recessive 46
Mitochondrial complex I deficiency, nuclear type 1 46
Mosaic variegated aneuploidy syndrome 1 46
Protoporphyria, erythropoietic, 1 46
Salla disease 46
Spherocytosis, Dominant 46
Aortic valve disease 2 45
Brugada syndrome 1 45
Cobalamin C disease 45
Danon disease 45
Facioscapulohumeral muscular dystrophy 2 45
Herpes simplex encephalitis, susceptibility to, 4 45
Lymphoproliferative syndrome 1 45
Autoimmune lymphoproliferative syndrome 44
Autoinflammation with infantile enterocolitis; Familial cold autoinflammatory syndrome 4 44
Brown-Vialetto-Van Laere syndrome 2 44
Cornelia de Lange syndrome 1 44
Epilepsy, progressive myoclonic 5 44
Hereditary spastic paraplegia 7 44
Immunodeficiency 44
Li-Fraumeni syndrome 1 44
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 44
Osteogenesis imperfecta type 7 44
Schwartz-Jampel syndrome 44
Transposition of the great arteries, dextro-looped 1 44
Wolman disease 44
Arginase deficiency 43
Autosomal dominant nonsyndromic deafness 6 43
Brown-Vialetto-Van Laere syndrome 1 43
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 43
Congenital muscular hypertrophy-cerebral syndrome 43
Congenital myasthenic syndrome 12 43
Desbuquois dysplasia 1 43
Fanconi anemia, complementation group C 43
Loeys-Dietz syndrome 2 43
Minicore myopathy with external ophthalmoplegia 43
Myasthenic syndrome, congenital, 2a, slow-channel 43
NIK deficiency 43
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 43
Nonsyndromic Hearing Loss, Recessive 43
Severe X-linked myotubular myopathy 43
ZAP70-Related Severe Combined Immunodeficiency 43
Arthrogryposis, mental retardation, and seizures 42
Atrioventricular septal defect 5 42
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 42
Deficiency of acetyl-CoA acetyltransferase 42
Fanconi anemia, complementation group J 42
Lafora disease 42
Lethal Kniest-like syndrome 42
Mental retardation, CASK-related, X-linked 42
Neuronal ceroid lipofuscinosis 1 42
Peroxisome biogenesis disorder 2B 42
Peroxisome biogenesis disorder 5a (zellweger) 42
Primary autosomal recessive microcephaly 5 42
Transcolabamin II deficiency 42
Treacher Collins syndrome 1 42
Andersen Tawil syndrome; Short QT syndrome 3 41
Autoimmune interstitial lung, joint, and kidney disease 41
Autosomal recessive limb-girdle muscular dystrophy type 2E 41
Ciliary dyskinesia, primary, 3 41
Congenital central hypoventilation 41
Epidermolysis bullosa junctionalis with pyloric atresia 41
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 41
Epilepsy, progressive myoclonic 8 41
Epilepsy, progressive myoclonic, 10 41
Ethylmalonic encephalopathy 41
Factor V deficiency 41
Familial hypertrophic cardiomyopathy 10 41
Holoprosencephaly 9 41
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 41
Inherited Erythromelalgia 41
Joubert syndrome 14 41
Myopathy, centronuclear, 4 41
Neuroblastoma 41
Permanent neonatal diabetes mellitus 41
Pontocerebellar hypoplasia type 1 41
Acromicric dysplasia 40
Aspartylglucosaminuria 40
Autosomal dominant polycystic kidney disease 40
Carpenter syndrome 2 40
Charcot-Marie-Tooth Neuropathy X 40
Charcot-Marie-Tooth disease type 2E 40
DiGeorge Syndrome 40
Familial hemophagocytic lymphohistiocytosis 2 40
Holoprosencephaly 7 40
Holoprosencephaly sequence 40
Hypogonadotropic hypogonadism 5 with or without anosmia 40
Limb-girdle muscular dystrophy, type 1F 40
Maturity onset diabetes mellitus in young 40
Myofibrillar Myopathy, Dominant 40
Small fiber neuropathy 40
Vitamin B12-responsive methylmalonic acidemia type cblB 40
APC-Associated Polyposis Disorders 39
Arrhythmogenic right ventricular dysplasia 8 39
Autosomal recessive cutis laxa type 1B 39
Carpenter syndrome 39
Ehlers-Danlos syndrome classic type 2 39
Epilepsy, progressive myoclonic 3 39
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 39
Holt-Oram syndrome 39
Kabuki syndrome 1 39
Lethal acantholytic epidermolysis bullosa 39
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 39
Stiff skin syndrome 39
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 39
Xanthinuria type II 39
3-Methylglutaconic aciduria type 2 38
Alkaptonuria 38
Brugada syndrome 5 38
Charcot-Marie-Tooth disease axonal type 2F 38
Glycogen storage disease 0, muscle 38
Histiocytosis-lymphadenopathy plus syndrome 38
Immunodeficiency 30 38
Inflammatory bowel disease 1 38
Long QT syndrome 3 38
Malignant hyperthermia susceptibility 38
Mitochondrial complex IV deficiency 38
Molybdenum cofactor deficiency, complementation group C 38
Nemaline myopathy 10 38
Pyruvate dehydrogenase E1-alpha deficiency 38
Retinitis pigmentosa 59 38
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 38
Amyotrophic lateral sclerosis 21 37
Autoimmune disease, syndromic multisystem 37
Charcot-Marie-Tooth disease, dominant intermediate C 37
Deficiency of ferroxidase 37
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 37
Familial hypertrophic cardiomyopathy 4 37
Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 37
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 37
Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 37
Ornithine carbamoyltransferase deficiency 37
Peroxisome biogenesis disorder 1A (Zellweger) 37
Primary ciliary dyskinesia 23 37
Spherocytosis type 1 37
Spondyloepiphyseal dysplasia with congenital joint dislocations 37
TNF receptor-associated periodic fever syndrome (TRAPS) 37
Thrombocythemia 1 37
Autosomal recessive limb-girdle muscular dystrophy type 2F 36
Breast neoplasm 36
Distal arthrogryposis type 2B 36
Hurler syndrome 36
Inflammatory skin and bowel disease, neonatal 1 36
Junctional epidermolysis bullosa 36
Kostmann syndrome 36
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 36
Renal dysplasia 36
Usher syndrome, type 2C 36
Angelman syndrome 35
Early infantile epileptic encephalopathy 8 35
Epidermolysis bullosa dystrophica inversa, autosomal recessive 35
Episodic ataxia 35
Hepatic veno-occlusive disease-immunodeficiency syndrome 35
Hereditary hyperekplexia 35
Hereditary sensory and autonomic neuropathy type IC 35
Histiocytic medullary reticulosis 35
Holoprosencephaly 11 35
Immunodeficiency 15 35
Immunodeficiency 8 35
Left ventricular noncompaction 1 35
Loeys-Dietz syndrome 1 35
Melanoma-pancreatic cancer syndrome 35
Nemaline myopathy 8 35
Paroxysmal non-kinesigenic dyskinesia 35
Pendred syndrome 35
Pontoneocerebellar hypoplasia 35
Pyruvate dehydrogenase E1-beta deficiency 35
ABCA4-Related Disorders 34
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 34
Cerebral cavernous malformation 34
Combined oxidative phosphorylation deficiency 17 34
Combined saposin deficiency 34
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 34
Eichsfeld type congenital muscular dystrophy 34
Familial restrictive cardiomyopathy 34
Familial temporal lobe epilepsy 1 34
Imerslund-Gräsbeck syndrome 1 34
Insulin-resistant diabetes mellitus AND acanthosis nigricans 34
Lig4 syndrome 34
Microphthalmia, isolated 5 34
Myofibrillar myopathy 3 34
Neural tube defect 34
Paramyotonia congenita of von Eulenburg 34
Paroxysmal kinesigenic dyskinesia 34
Primary amenorrhea 34
Short rib-polydactyly syndrome, Majewski type 34
Stickler syndrome type 2 34
WFS1-Related Spectrum Disorders 34
Episodic ataxia type 1 33
Fanconi anemia, complementation group E 33
Greig cephalopolysyndactyly syndrome 33
Hermansky-Pudlak syndrome 33
Hirschsprung disease 1 33
IL21R immunodeficiency 33
Joubert syndrome 15 33
Mental retardation, autosomal recessive 15 33
Mosaic variegated aneuploidy syndrome 2 33
Multiple endocrine neoplasia 33
Myopathy, distal, 1 33
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 33
Peroxisome biogenesis disorder 3A 33
Pigmentary retinal dystrophy 33
Tangier disease 33
Usher syndrome type 1D 33
Vitamin B12-responsive methylmalonic acidemia type cblA 33
Age-related macular degeneration 5 32
Amyotrophic lateral sclerosis type 4 32
Autosomal recessive pseudohypoaldosteronism type 1 32
Benign Neonatal Epilepsy 32
Citrullinemia type I 32
Congenital amegakaryocytic thrombocytopenia 32
Congenital myasthenic syndrome 32
Cowden syndrome 1 32
Dilated cardiomyopathy 1E 32
Dilated cardiomyopathy 3B 32
Disseminated atypical mycobacterial infection 32
Focal cortical dysplasia type II 32
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor IX defect 32
Herpes simplex encephalitis, susceptibility to, 3 32
Hyperekplexia 32
Hypokalemic periodic paralysis 1 32
Hypokalemic periodic paralysis, type 2 32
Larsen syndrome 32
Limb-girdle muscular dystrophy, type 1E 32
MAPT-Related Spectrum Disorders 32
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 32
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 32
Myoclonic dystonia 11 32
Paroxysmal familial ventricular fibrillation 1 32
Polyhydramnios, megalencephaly, and symptomatic epilepsy 32
Spondyloepiphyseal dysplasia congenita 32
Usher syndrome, type 3B 32
Adenylosuccinate lyase deficiency 31
Arginine:glycine amidinotransferase deficiency 31
Baraitser-Winter syndrome 1 31
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 31
Diabetes mellitus, neonatal, with congenital hypothyroidism 31
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 31
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 31
Familial hypoalphalipoproteinemia 31
Infantile dystonia-parkinsonism 31
Limb-Girdle Muscular Dystrophy, Dominant 31
Mental retardation 3, X-linked 31
Neoplasm of ovary 31
Neurodegeneration with brain iron accumulation 5 31
Nonsyndromic Hearing Loss, Dominant 31
Oculotrichoanal syndrome 31
Pallister-Hall syndrome 31
Peroxisome biogenesis disorder, complementation group K 31
Potassium-aggravated myotonia 31
Primary pulmonary hypertension 1 31
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 31
Skeletal dysplasia 31
Sotos syndrome 1 31
Usher syndrome, type 2A; Retinitis pigmentosa 39 31
3-Methylglutaconic aciduria type 3; Optic atrophy 3 30
Adult proximal spinal muscular atrophy, autosomal dominant 30
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 30
Aortic aneurysm, familial thoracic 6 30
Atrial septal defect 7 with or without atrioventricular conduction defects 30
Brain small vessel disease with hemorrhage 30
Capillary malformation-arteriovenous malformation 30
Deafness, autosomal recessive 9 30
Endometrial carcinoma 30
Fraser syndrome 2 30
Generalized epilepsy with febrile seizures plus, type 9 30
Glycogen storage disease IXb 30
Hereditary sensory and autonomic neuropathy type 1 30
Immunodeficiency 44 30
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 30
Myopathy with postural muscle atrophy, X-linked 30
Neutropenia, severe congenital, 7, autosomal recessive 30
Otospondylomegaepiphyseal dysplasia, autosomal recessive 30
Progressive familial heart block, type 1A 30
Thrombophilia due to thrombin defect 30
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 30
Usher syndrome type 1F 30
Von Hippel-Lindau syndrome 30
Weill-Marchesani syndrome 4 30
Alzheimer disease 29
Amyotrophic Lateral Sclerosis, Dominant 29
Aniridia, Cerebellar Ataxia, And Intellectual Disability 29
Cerebral folate transport deficiency 29
Congenital Muscular Dystrophy, alpha-dystroglycan related 29
Deafness, autosomal dominant 4 29
Deafness, autosomal recessive 2 29
EAST syndrome 29
Finnish congenital nephrotic syndrome 29
Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 29
Immunodeficiency 22 29
Immunodeficiency 39 29
Leber congenital amaurosis 3 29
Megaconial type congenital muscular dystrophy 29
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 29
Molybdenum cofactor deficiency, complementation group A 29
Orthostatic hypotension 1 29
Platelet-type bleeding disorder 9 29
Polyarteritis nodosa, childhoood-onset 29
Stargardt disease 4 29
X-linked severe combined immunodeficiency 29
ALG2-CDG; Myasthenic syndrome, congenital, 14 28
Achondrogenesis, type IA 28
Capillary malformation-arteriovenous malformation 1 28
Cataract 18 28
Christianson syndrome 28
Deficiency of malonyl-CoA decarboxylase 28
Ectopia lentis, isolated, autosomal dominant 28
Frontotemporal dementia 28
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 28
GM3 synthase deficiency 28
Holoprosencephaly 9; Culler-Jones syndrome 28
Immunodeficiency 32b; Immunodeficiency 32a 28
Indifference to pain, congenital, autosomal recessive 28
Isolated coronal synostosis 28
Leprechaunism syndrome 28
Methylmalonic acidemia with homocystinuria cblD 28
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 28
Pineal hyperplasia AND diabetes mellitus syndrome 28
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 28
Spastic paraplegia 4, autosomal dominant 28
Surfactant metabolism dysfunction, pulmonary, 3 28
Surfactant metabolism dysfunction, pulmonary, 4 28
Acquired porencephaly 27
Aicardi Goutieres syndrome 4 27
Atrial fibrillation, familial, 3 27
Autoimmune lymphoproliferative syndrome, type 2A; Autoimmune lymphoproliferative syndrome type 2 27
Blau syndrome 27
Charcot-Marie-Tooth disease, dominant intermediate F 27
Charcot-Marie-Tooth disease, type 4A 27
Congenital stationary night blindness, type 1E 27
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 27
DPAGT1-CDG; Congenital myasthenic syndrome 13 27
Dyskeratosis congenita, autosomal dominant 6 27
Hypobetalipoproteinemia, familial, 1 27
Leber congenital amaurosis 4 27
Leukocyte adhesion deficiency type II 27
Long QT syndrome 1 27
Miyoshi myopathy 27
Multiple endocrine neoplasia, type 2b 27
Muscular dystrophy, limb-girdle, type 2y 27
Myosin storage myopathy 27
Neuropathy, hereditary motor and sensory, type 6B 27
Partial albinism 27
Polydactyly 27
Pyridoxal phosphate-responsive seizures 27
Spinocerebellar ataxia type 19/22 27
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 27
Stüve-Wiedemann syndrome 27
Xeroderma pigmentosum, group F 27
Agenesis of the corpus callosum with peripheral neuropathy 26
Amyloidogenic transthyretin amyloidosis 26
Atypical Gaucher Disease 26
Autoimmune lymphoproliferative syndrome type 2B 26
Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 26
Congenital disorder of glycosylation type 2i 26
Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 26
Deafness, autosomal dominant 12 26
Deficiency of aromatic-L-amino-acid decarboxylase 26
Dilated cardiomyopathy 1Z; Familial hypertrophic cardiomyopathy 13 26
Dystrophic epidermolysis bullosa 26
Epileptic encephalopathy, early infantile, 32 26
Factor VII Marburg I Variant Thrombophilia 26
Hereditary xanthinuria type 1 26
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 26
Hypohidrotic X-linked ectodermal dysplasia 26
Immunodeficiency 12 26
Immunodeficiency 42 26
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 26
Iodotyrosyl coupling defect 26
Joubert syndrome 17 26
Myoclonic epilepsy, familial infantile 26
Parkes Weber syndrome 26
Spongy degeneration of central nervous system 26
Upshaw-Schulman syndrome 26
Autosomal dominant nonsyndromic deafness 22 25
Ciliary dyskinesia, primary, 6 25
Cone-rod dystrophy 12 25
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 25
Epileptic encephalopathy, early infantile, 37 25
Erythrocytosis, familial, 3 25
Familial hyperinsulinism 25
GNE myopathy 25
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 25
Hereditary sensory neuropathy type IF 25
Interleukin 2 receptor, alpha, deficiency of 25
Mitochondrial complex I deficiency 25
Mucopolysaccharidosis type 7 25
Multiminicore Disease 25
Multiple congenital exostosis 25
Seizures, benign familial infantile, 3 25
Stickler syndrome type 1 25
Wiskott-Aldrich syndrome 2 25
Amelogenesis Imperfecta, Recessive 24
Ataxia, spastic, 2, autosomal recessive 24
Ataxia-telangiectasia-like disorder 1 24
Bardet-Biedl syndrome 1 24
COG1 congenital disorder of glycosylation 24
COG7 congenital disorder of glycosylation 24
Café-au-lait macules with pulmonary stenosis 24
Common variable immunodeficiency 2 24
Congenital disorder of glycosylation type 2B 24
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 24
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 24
Ectodermal dysplasia and immunodeficiency 2 24
Encephalopathy, familial, with neuroserpin inclusion bodies 24
Epidermolysis bullosa simplex due to plakophilin deficiency 24
Familial hypertrophic cardiomyopathy 19 24
Fibrochondrogenesis 2 24
Hereditary factor VIII deficiency disease 24
Heterotaxy, visceral, 4, autosomal 24
Hyperaldosteronism, familial, type I 24
Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 24
Hypomyelinating leukodystrophy 7 24
Immunodeficiency 24 24
Jeune thoracic dystrophy; Nephronophthisis 24
Joubert syndrome 8 24
Junctional epidermolysis bullosa, non-Herlitz type 24
Knobloch syndrome 1 24
Leukoencephalopathy with vanishing white matter 24
Mosaic variegated aneuploidy syndrome 24
Neurofibromatosis, familial spinal 24
Noonan syndrome 4 24
Norman-Roberts syndrome 24
Polycystic liver disease 1 24
Polyglucosan body myopathy 1 with or without immunodeficiency 24
Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 24
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 24
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 24
Syndromic intellectual disability 24
46,XY sex reversal 9 23
ALG9 congenital disorder of glycosylation 23
Abetalipoproteinaemia 23
Achromatopsia 23
Agammaglobulinemia 2, autosomal recessive 23
Agammaglobulinemia 4, autosomal recessive 23
Autosomal recessive congenital ichthyosis 1 23
Ciliary dyskinesia, primary, 28 23
Combined oxidative phosphorylation deficiency 10 23
Common variable immunodeficiency 4 23
Cone dystrophy 23
Congenital muscular dystrophy due to partial LAMA2 deficiency 23
Corneal dystrophy 23
Deafness, autosomal recessive 12 23
Dilated cardiomyopathy 1AA 23
Distal arthrogryposis type 1A 23
Familial Candidiasis, Recessive 23
Febrile seizures, familial, 11 23
Frank-Ter Haar syndrome 23
Hemochromatosis type 4 23
Hereditary spastic paraplegia 6 23
Hyper-IgM syndrome type 5 23
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 23
Macular corneal dystrophy 23
Maturity-onset diabetes of the young, type 1 23
Monogenic Non-Syndromic Obesity 23
Mucopolysaccharidosis, MPS-IV-A 23
Nemaline myopathy 9 23
Nephronophthisis 16 23
Oculofaciocardiodental syndrome 23
Osteopetrosis 23
Peripheral neuropathy 23
Porencephaly 2 23
Pyruvate dehydrogenase lipoic acid synthetase deficiency 23
Retinitis pigmentosa 25 23
SLC35A2-CDG 23
Severe congenital neutropenia 4, autosomal recessive 23
Spastic paraplegia 31, autosomal dominant 23
Spastic paraplegia, autosomal dominant 23
ANO5-Related Muscle Diseases 22
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 22
Cataract 6, multiple types 22
Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 22
Charcot-Marie-Tooth disease, type 2N 22
Complement component 2 deficiency 22
Congenital disorder of glycosylation type 1E 22
Congenital disorder of glycosylation type 1t 22
Dilated cardiomyopathy 1II 22
Endplate acetylcholinesterase deficiency 22
Familial hypokalemia-hypomagnesemia 22
Glanzmann thrombasthenia 22
Glucocorticoid resistance, generalized 22
Glycogen storage disease, type VI 22
Hereditary pyropoikilocytosis 22
Hypomyelination and Congenital Cataract 22
Immunodeficiency 16 22
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 22
Leber congenital amaurosis 7 22
Left-right axis malformations 22
Medulloblastoma 22
Merosin deficient congenital muscular dystrophy 22
Myotonia congenita 22
Nemaline myopathy 5 22
Nephronophthisis 18 22
Retinal degeneration 22
Spastic paraplegia 50, autosomal recessive 22
Spastic paraplegia 73, autosomal dominant 22
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 22
Vitelliform macular dystrophy type 2 22
Vitreoretinochoroidopathy 22
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 22
ALG12-congenital disorder of glycosylation 21
Aicardi Goutieres syndrome 3 21
Amyotrophic lateral sclerosis type 8 21
Arterial calcification, generalized, of infancy, 1 21
Basal laminar drusen 21
Cardiomyopathy, dilated, 1u 21
Charcot-Marie-Tooth disease, type 1C 21
Ciliary dyskinesia, primary, 33 21
Combined molybdoflavoprotein enzyme deficiency 21
Cone-rod dystrophy 7 21
Cranioectodermal dysplasia 1 21
Deafness, autosomal dominant 1 21
Deficiency of 2-methylbutyryl-CoA dehydrogenase 21
Epiphyseal dysplasia, multiple, 2 21
Hennekam lymphangiectasia-lymphedema syndrome 1 21
Hereditary acrodermatitis enteropathica 21
Hereditary spastic paraplegia 3A 21
Hyperglycinuria 21
Hyperinsulinemic hypoglycemia, familial, 1 21
Hypobetalipoproteinemia 21
Hypogonadotropic hypogonadism 2 with or without anosmia 21
Inclusion Body Myopathy, Recessive 21
Infantile neuroaxonal dystrophy 21
Inflammatory bowel disease 25, autosomal recessive 21
Inosine triphosphatase deficiency 21
Joubert syndrome 20; Meckel syndrome, type 11 21
Lysosomal acid lipase deficiency 21
Methylmalonic acidemia with homocystinuria, type cblJ 21
Mitochondrial trifunctional protein deficiency 21
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 21
Nemaline myopathy 3 21
Peroxisome biogenesis disorder 12A 21
Pitt-Hopkins-like syndrome 21
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 21
Rubinstein-Taybi syndrome 2; Colorectal cancer 21
Spinal muscular atrophy, distal, autosomal recessive, 5 21
Temtamy syndrome 21
Thrombocytopenia 21
Transient neonatal diabetes mellitus 2 21
Antithrombin III deficiency 20
BH4-deficient hyperphenylalaninemia A 20
CFTR-related disorders 20
Cardiac arrhythmia 20
Cataract-intellectual disability-hypogonadism syndrome 20
Deafness, autosomal dominant 3a 20
Deficiency of pyrroline-5-carboxylate reductase 20
Familial hemiplegic migraine type 3 20
Familial hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 20
Hereditary diffuse leukoencephalopathy with spheroids 20
Hereditary spastic paraplegia 10 20
Hyperinsulinism-hyperammonemia syndrome 20
Infantile cortical hyperostosis 20
Limb-girdle muscular dystrophy, type 1G 20
Matthew-Wood syndrome 20
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 20
Nephrotic syndrome, type 4 20
Neurofibromatosis-Noonan syndrome 20
Orofacial cleft 8 20
Oromandibular-limb hypogenesis spectrum 20
Orotic aciduria 20
Parkinson Disease, Dominant/Recessive 20
Periodontitis 20
Pigmentary pallidal degeneration 20
Polycystic kidney disease 2 20
Qualitative or quantitative defects of delta-sarcoglycan 20
Rubinstein-Taybi syndrome 1 20
Severe congenital neutropenia 2, autosomal dominant 20
Sitosterolemia 20
Spastic paraplegia 63, autosomal recessive; Pontocerebellar hypoplasia, type 9 20
Sting-associated vasculopathy, infantile-onset 20
Telangiectasia, hereditary hemorrhagic, type 5 20
Three M syndrome 2 20
Troyer syndrome 20
Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, miura type 19
Behavior disorder 19
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 19
Candidiasis, familial, 8 19
Charcot-Marie-Tooth disease type 2B 19
Congenital brain dysgenesis due to glutamine synthetase deficiency 19
Congenital microvillous atrophy 19
Cornelia de Lange syndrome 3 19
Cranioectodermal dysplasia 2 19
D-2-hydroxyglutaric aciduria 1 19
Deafness, autosomal recessive 1A 19
Epilepsy, familial focal, with variable foci 1 19
Familial hemophagocytic lymphohistiocytosis 4 19
Fibrochondrogenesis 1 19
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 19
Hemolytic anemia 19
Hereditary hyperferritinemia with congenital cataracts 19
Idiopathic Pulmonary Fibrosis 19
Immunodeficiency 29 19
Isolated Nonsyndromic Congenital Heart Disease 19
Leber congenital amaurosis 12 19
Left ventricular noncompaction 10 19
Mental retardation, X-linked, syndromic, Raymond type 19
Nephronophthisis-like nephropathy 1 19
Neuroferritinopathy 19
Pierpont syndrome 19
Primary hyperoxaluria, type I 19
Primary pulmonary hypertension 19
SEPN1-Related Disorders 19
Senior-Loken syndrome 4 19
Short-rib thoracic dysplasia 3 with or without polydactyly 19
Short-rib thoracic dysplasia 7 with or without polydactyly 19
Somatotroph adenoma 19
Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant 19
Usher syndrome, type 1B 19
Vitreoretinopathy 19
3-Methylglutaconic aciduria type 3 18
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 18
Alzheimer disease, type 3 18
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 18
Atypical hemolytic uremic syndrome 18
Atypical hemolytic-uremic syndrome 5 18
Brain small vessel disease 1 with or without ocular anomalies 18
Cenani-Lenz syndactyly syndrome 18
Charcot-Marie-Tooth disease, type 4H 18
Ciliary dyskinesia, primary, 19 18
Congenital primary aphakia; Anterior segment dysgenesis 18
Congenital sensory neuropathy with selective loss of small myelinated fibers 18
De Lange syndrome 18
Deficiency of steroid 11-beta-monooxygenase 18
Desmosterolosis 18
Familial atrial fibrillation 18
Freeman-Sheldon syndrome 18
Generalized epilepsy with febrile seizures plus, type 2 18
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 18
Hereditary spastic paraplegia 15 18
Hyperparathyroidism 1 18
Hypophosphatasia 18
Hypophosphatemic rickets, autosomal recessive, 2 18
Immunodeficiency 23 18
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 18
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 18
Long QT syndrome 5 18
Maturity-onset diabetes of the young, type 3 18
Methylcobalamin deficiency type cblG 18
Microphthalmia, isolated 3 18
Mitochondrial complex II deficiency 18
Mucopolysaccharidosis, MPS-III-C 18
Nephronophthisis 4 18
Neurodegeneration with brain iron accumulation 4 18
Neuropathy, hereditary sensory and autonomic, type VI 18
Nicolaides-Baraitser syndrome 18
Niemann-Pick disease, type C2 18
Osteomyelitis, sterile multifocal, with periostitis and pustulosis 18
Paroxysmal extreme pain disorder 18
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 18
Retinal cone dystrophy 4 18
Spinal muscular atrophy, distal, autosomal recessive, 1 18
Spinocerebellar ataxia 35 18
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 18
Spondyloenchondrodysplasia with immune dysregulation 18
Succinyl-CoA acetoacetate transferase deficiency 18
UDPglucose-4-epimerase deficiency 18
Vesicoureteral reflux 2 18
Warburg micro syndrome 2 18
Welander distal myopathy 18
Xeroderma pigmentosum 18
Xeroderma pigmentosum variant type 18
ANKRD1-related dilated cardiomyopathy 17
Achondrogenesis, type IB 17
Acrodysostosis 17
Agammaglobulinemia 6, autosomal recessive 17
Aicardi Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 17
Alpha-methylacyl-CoA racemase deficiency 17
Alport syndrome, autosomal recessive 17
Alzheimer disease, type 4 17
Anauxetic dysplasia 17
Bailey-Bloch congenital myopathy 17
Cerebellar ataxia, Cayman type 17
Cerebral palsy, spastic quadriplegic, 1 17
Chondrodysplasia with joint dislocations, GPAPP type 17
Congenital disorder of glycosylation type 1N 17
Congenital disorder of glycosylation type 2L; Shaheen syndrome 17
Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 17
Dilated cardiomyopathy 1R 17
Dilated cardiomyopathy 1S 17
Dyskeratosis congenita, autosomal dominant 1 17
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 17
Factor VII deficiency 17
Fatty liver disease, nonalcoholic 1 17
Gaze palsy, familial horizontal, with progressive scoliosis 1 17
Griscelli syndrome type 2 17
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 17
Hearing impairment 17
Hecht syndrome 17
Hypergonadotropic hypogonadism 17
Hypomagnesemia 1, intestinal 17
Immunodeficiency 28 17
Intellectual Disability, Recessive 17
Isolated sulfite oxidase deficiency 17
Jervell and Lange-Nielsen syndrome 1 17
Kufor-Rakeb syndrome 17
Lethal Encephalopathy 17
Long QT syndrome 6 17
MYH9-related disorder 17
Methylmalonic acidemia 17
Mitochondrial myopathy and sideroblastic anemia 17
Mucolipidosis type II 17
Muscular dystrophy, limb-girdle, type 2W 17
Myopathy, lactic acidosis, and sideroblastic anemia 1 17
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 17
Noonan syndrome 1 17
POLG-Related Spectrum Disorders 17
PRPH2-Related Disorders 17
Parkinson Disease, Recessive 17
Parkinson disease 2 17
Peters plus syndrome 17
Primary pulmonary hypertension 4 17
Robinow syndrome, autosomal recessive 17
Rubinstein-Taybi syndrome 17
Short QT syndrome 2 17
Short-rib thoracic dysplasia 8 with or without polydactyly 17
Spastic paraplegia 54, autosomal recessive 17
Spastic paraplegia 75, autosomal recessive 17
Spherocytosis type 3 17
Spherocytosis type 4 17
Spinocerebellar ataxia type 11 17
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 17
Vitamin K-dependent clotting factors, combined deficiency of, 1 17
Anterior segment dysgenesis 7 16
Aplastic anemia 16
Arrhythmogenic right ventricular cardiomyopathy, type 12 16
Atrial fibrillation, familial, 6 16
Autosomal dominant optic atrophy classic form 16
Bardet-Biedl syndrome 2 16
Bardet-Biedl syndrome; McKusick-Kaufman syndrome 16
Bartsocas-Papas syndrome 16
Cardiomyopathy, dilated, 2b 16
Charcot-Marie-Tooth disease type 2D 16
Ciliary dyskinesia, primary, 30 16
Cone-rod dystrophy 5 16
Congenital aniridia 16
Congenital disorder of glycosylation type 2J 16
Congenital dyserythropoietic anemia, type I 16
Congenital stationary night blindness, type 1C 16
Corticosterone 18-monooxygenase deficiency 16
Cystinuria 16
Deafness, autosomal recessive 3 16
Dubin-Johnson syndrome 16
Epidermolytic palmoplantar keratoderma 16
Factor XII deficiency disease 16
Familial hemiplegic migraine type 2 16
Familial isolated hypoparathyroidism 16
Fanconi anemia, complementation group N 16
Fanconi anemia, complementation group P 16
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 16
Fukuyama congenital muscular dystrophy 16
Glycogen storage disease, type IV 16
Gray platelet syndrome 16
Hirschsprung disease 3 16
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 16
Idiopathic basal ganglia calcification 1 16
Idiopathic hypereosinophilic syndrome 16
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 16
Irido-corneo-trabecular dysgenesis 16
Long QT syndrome 11 16
Mental retardation, autosomal recessive 42 16
Nijmegen breakage syndrome-like disorder 16
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 16
Parietal foramina 2 16
Parkinson disease 6, autosomal recessive early-onset 16
Peroxisome biogenesis disorder 11A 16
Primary hyperoxaluria, type II 16
Pseudohypoaldosteronism type 2C 16
Pustular psoriasis, generalized 16
Renal cysts and diabetes syndrome 16
Retinitis pigmentosa-deafness syndrome 16
Schopf-Schulz-Passarge syndrome 16
Sick sinus syndrome 1, autosomal recessive 16
Tatton-Brown-rahman syndrome 16
Thrombophilia due to protein S deficiency, autosomal recessive 16
Visceral heterotaxy 5, autosomal 16
X-linked agammaglobulinemia with growth hormone deficiency 16
Xeroderma pigmentosum, group G 16
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 16
Agammaglobulinemia 3, autosomal recessive 15
Age-related macular degeneration 9 15
Aicardi Goutieres syndrome 2 15
Alopecia universalis congenita 15
Asphyxiating thoracic dystrophy 4 15
Atrial fibrillation, familial, 18 15
Atrichia with papular lesions 15
Autosomal recessive cerebellar ataxia 15
Autosomal recessive osteopetrosis 1 15
Beta-D-mannosidosis 15
Bifunctional peroxisomal enzyme deficiency 15
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 15
Caudal regression sequence 15
Cd8 deficiency, familial 15
Cockayne syndrome 15
Combined deficiency of sialidase AND beta galactosidase 15
Combined oxidative phosphorylation deficiency 1 15
Congenital Stationary Night Blindness, Recessive 15
Crouzon syndrome 15
Deafness, autosomal dominant 9 15
Distal hereditary motor neuronopathy type 7B 15
Ehlers-Danlos syndrome, procollagen proteinase deficient 15
Familial erythrocytosis 15
Familial hypertrophic cardiomyopathy 11 15
Glaucoma 3, primary congenital, d 15
Growth delay due to insulin-like growth factor type 1 deficiency 15
Hyaline fibromatosis syndrome 15
Hyper-IgM syndrome type 2 15
Hyperinsulinism due to glucokinase deficiency 15
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 15
Hypohidrotic ectodermal dysplasia 15
Hystrix-like ichthyosis with deafness 15
Immunodeficiency due to defect in cd3-zeta 15
Inflammatory bowel disease 15
Joubert syndrome 3 15
Joubert syndrome; Orofaciodigital syndrome I 15
Junctional epidermolysis bullosa gravis of Herlitz 15
Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 15
Leber congenital amaurosis 8 15
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 15
Lissencephaly 4 15
Long QT syndrome 2 15
Maturity-onset diabetes of the young type 7 15
Maturity-onset diabetes of the young, type 11 15
Maturity-onset diabetes of the young, type 2 15
Megalencephalic leukoencephalopathy with subcortical cysts 15
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 15
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 15
Mucolipidosis type III gamma 15
Myhre syndrome 15
Nephrotic syndrome, type 3 15
Neutrophil immunodeficiency syndrome 15
Noonan syndrome 6 15
Osteochondrodysplasia 15
Parkinson Disease, Dominant 15
Parkinson disease 19a, juvenile-onset 15
Porphobilinogen synthase deficiency 15
Progressive familial intrahepatic cholestasis 2 15
Purine-nucleoside phosphorylase deficiency 15
Rhizomelic chondrodysplasia punctata type 3 15
Rotor syndrome 15
Saethre-Chotzen syndrome 15
Spastic paraplegia 28, autosomal recessive 15
Spastic paraplegia 47, autosomal recessive 15
Spherocytosis 15
Spondylocostal dysostosis 1, autosomal recessive 15
Spondylocostal dysostosis 3, autosomal recessive 15
Surfactant metabolism dysfunction, pulmonary, 1 15
Thyroid dyshormonogenesis 6 15
Type II Collagenopathies 15
VATER association 15
Ventricular tachycardia 15
White sponge nevus 1 15
Alpha-N-acetylgalactosaminidase deficiency type 1 14
Amelogenesis imperfecta, hypomaturation type, IIA3 14
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Tremor, hereditary essential, 4 14
Amyotrophic lateral sclerosis type 8; Spinal muscular atrophy, late-onset, finkel type 14
Arthrogryposis multiplex congenita 14
Atypical hemolytic-uremic syndrome 1 14
Bardet-Biedl syndrome 12 14
Brachydactyly 14
Branchiootic syndrome 1 14
Breast-ovarian cancer, familial 3 14
Budd-Chiari syndrome 14
Caudal dysgenesis syndrome 14
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 14
Charcot-Marie-Tooth disease, type 2L 14
Common variable immunodeficiency 1 14
Cone dystrophy with supernormal rod response 14
Corneal dystrophy-perceptive deafness syndrome 14
Deafness, autosomal dominant 5 14
Deficiency of guanidinoacetate methyltransferase 14
Deficiency of isobutyryl-CoA dehydrogenase 14
Dental anomalies and short stature 14
Dilated cardiomyopathy 1I 14
Dilated cardiomyopathy 1V 14
Dyskeratosis congenita, autosomal dominant, 2 14
Ectopia lentis 2, isolated, autosomal recessive 14
Familial visceral amyloidosis, Ostertag type 14
Fanconi-Bickel syndrome 14
Glycogen storage disease IXd 14
Hajdu-Cheney syndrome 14
Hemochromatosis type 3 14
Hermansky-Pudlak syndrome 4 14
Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 14
Hyperphosphatemic familial tumoral calcinosis 3 14
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 14
Hypohidrotic Ectodermal Dysplasia, Dominant 14
Jervell and Lange-Nielsen syndrome 2 14
Kallmann syndrome 3 14
Liddle syndrome 1 14
Lipodystrophy, congenital generalized, type 4 14
Marinesco-Sjögren syndrome 14
Maternal riboflavin deficiency 14
Methylmalonic acidemia with homocystinuria cblC 14
Multiple Cutaneous and Uterine Leiomyomas 14
Nail-patella syndrome 14
Nephronophthisis 9 14
Nephropathic cystinosis 14
Nephrotic syndrome, type 5, with or without ocular abnormalities 14
Neuropathy, hereditary sensory and autonomic, type 1A 14
Noonan syndrome 5 14
Odonto-onycho-dermal dysplasia 14
Osteogenesis Imperfecta, Recessive 14
Paget disease of bone 2, early-onset 14
Paget disease of bone 3 14
Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 14
Pierson syndrome 14
Polymerase proofreading-related adenomatous polyposis 14
Polymicrogyria, bilateral frontoparietal 14
Primary autosomal recessive microcephaly 2 14
Primary erythromelalgia 14
Rett syndrome 14
Specific granule deficiency 14
Spondylocostal dysostosis 2, autosomal recessive 14
Squamous cell carcinoma of the head and neck 14
Stargardt disease 1 14
TP63-Related Spectrum Disorders 14
Tooth agenesis, selective, 4 14
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 14
Ulnar-mammary syndrome 14
Acute intermittent porphyria 13
Afibrinogenemia, congenital 13
Age-related macular degeneration 4 13
Atelosteogenesis type II 13
Brugada syndrome 7 13
COFS syndrome 13
Ceroid lipofuscinosis neuronal 2 13
Charcot-Marie-Tooth disease, X-linked dominant, 6 13
Charcot-Marie-Tooth disease, type 4B3 13
Cone-rod dystrophy 13
Congenital defect of folate absorption 13
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 13
Cutis laxa, autosomal dominant 1 13
Deafness, autosomal dominant 23 13
Deafness, autosomal recessive 2; Usher syndrome type 1 13
Deficiency of phosphoserine phosphatase 13
Dilated cardiomyopathy 1A 13
Distal hereditary motor neuronopathy type 5 13
Distal spinal muscular atrophy, autosomal recessive 2; Amyotrophic lateral sclerosis 16, juvenile 13
Early infantile epileptic encephalopathy 10 13
Ehlers-danlos syndrome, arthrochalasia type, 2 13
Enhanced S-cone syndrome; Retinitis pigmentosa 37 13
Epilepsy, childhood absence 2 13
FGFR2 related craniosynostosis 13
Fraser syndrome 3 13
Fucosidosis 13
Genitopatellar syndrome 13
Glycogen storage disease due to hepatic glycogen synthase deficiency 13
Haim-Munk syndrome; Periodontitis, aggressive, 1; Papillon-Lefèvre syndrome 13
Hereditary angioneurotic edema 13
Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3; de Barsy syndrome 13
Heterotaxy, visceral, 1, X-linked 13
Hidrotic ectodermal dysplasia syndrome 13
Homocystinuria due to MTHFR deficiency 13
Hyperekplexia 1 13
Hypokalemic periodic paralysis 13
Hypomagnesemia 4, renal 13
Hypotrichosis 6 13
Immunodeficiency 18 13
Immunodeficiency 38 with basal ganglia calcification 13
Keratosis follicularis 13
Kindler syndrome 13
Lethal tight skin contracture syndrome 13
Lissencephaly, Recessive 13
Long QT syndrome 12 13
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 13
Lymphoproliferative syndrome 2, X-linked 13
Megalencephalic leukoencephalopathy with subcortical cysts 1 13
Methylmalonate semialdehyde dehydrogenase deficiency 13
Methylmalonic aciduria and homocystinuria type cblF 13
Muscle eye brain disease 13
Myokymia 13
Nephronophthisis 12 13
Neuropathy, hereditary sensory and autonomic, type VIII 13
Nonsyndromic hearing loss and deafness 13
Obesity 13
Osteogenesis imperfecta, type xiii 13
Otofaciocervical syndrome 1 13
Paget disease of bone 13
Pancreatic cancer 1 13
Parkinson disease 17 13
Posterior column ataxia-retinitis pigmentosa syndrome 13
Primary Microcephaly, Recessive 13
Primary open angle glaucoma 13
Proteasome-associated autoinflammatory syndrome 1 13
Pseudohypoaldosteronism type 2B 13
Pyruvate dehydrogenase E2 deficiency 13
Reticular dysgenesis 13
Roberts-SC phocomelia syndrome 13
Short-rib thoracic dysplasia 13 with or without polydactyly 13
Usher syndrome, type 1C; Deafness, autosomal recessive 18 13
Warts, hypogammaglobulinemia, infections, and myelokathexis 13
beta Thalassemia 13
ALG8-CDG 12
Acyl-CoA dehydrogenase family, member 9, deficiency of 12
Alport syndrome 3, autosomal dominant 12
Atypical hemolytic-uremic syndrome 4 12
Bardet-Biedl syndrome 9 12
Bartter syndrome, type 1, antenatal 12
Beare-Stevenson cutis gyrata syndrome 12
Benign familial neonatal seizures 2 12
Ciliary dyskinesia, primary, 32 12
Ciliary dyskinesia, primary, 9 12
Cone-Rod Dystrophy, Dominant 12
Congenital myopathy with fiber type disproportion 12
Congenital nephrotic syndrome 12
Congenital stationary night blindness, autosomal dominant 2 12
Corticosterone methyloxidase type 2 deficiency 12
Cranioectodermal dysplasia 4 12
Dermatofibrosis lenticularis disseminata 12
Diastrophic dysplasia 12
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 12
Distal spinal muscular atrophy, autosomal recessive 4 12
Distal spinal muscular atrophy, congenital nonprogressive 12
Dystonia 1 12
Ectopia lentis 12
Ehlers-Danlos syndrome, spondylodysplastic type, 1 12
Familial hypertrophic cardiomyopathy 6 12
Fanconi anemia, complementation group D2 12
Fanconi anemia, complementation group G 12
Fleck corneal dystrophy 12
Focal segmental glomerulosclerosis 5 12
Gaucher disease, atypical, due to saposin C deficiency 12
Generalized epilepsy with febrile seizures plus, type 1 12
Heart failure 12
Hepatic methionine adenosyltransferase deficiency 12
Hereditary angioedema type 1 12
Hereditary spastic paraplegia 12
Hermansky-Pudlak syndrome 5 12
Hirschsprung disease 4 12
Histidinemia 12
Hydatidiform mole, recurrent, 1 12
Hyperekplexia 2 12
Hyperekplexia 3 12
Infantile nephronophthisis 12
Intrinsic factor deficiency 12
Jervell and Lange-Nielsen syndrome 12
Leydig cell hypoplasia, type 1 12
Lung carcinoma 12
Macular dystrophy, patterned, 1 12
Mannose-binding protein deficiency 12
Metatrophic dysplasia 12