ClinVar Miner

Variants reported as benign

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148089
Total variants unanimously reported as benign: 110951

Breakdown by submitter #

Total submitters: 233
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Submitter Variants
Invitae 67707
Illumina Clinical Services Laboratory,Illumina 35411
GeneDx 27433
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 17209
PreventionGenetics, PreventionGenetics 11487
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7945
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7102
Athena Diagnostics Inc 6616
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5588
Ambry Genetics 4237
Integrated Genetics/Laboratory Corporation of America 3815
Natera, Inc. 2624
Genetic Services Laboratory, University of Chicago 2339
Color Health, Inc 1771
Mayo Clinic Laboratories, Mayo Clinic 1406
Mendelics 1367
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1360
ISCA site 19 1157
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1129
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 969
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 951
Quest Diagnostics Nichols Institute San Juan Capistrano 820
Department of Pathology and Laboratory Medicine,Sinai Health System 754
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 721
ISCA site 4 616
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 579
ISCA site 6 552
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 546
Genome Diagnostics Laboratory,University Medical Center Utrecht 516
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 392
GeneReviews 371
ISCA site 8 331
Molecular Genetics Laboratory,London Health Sciences Centre 320
Sharing Clinical Reports Project (SCRP) 312
Counsyl 309
ISCA site 7 307
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 237
OMIM 227
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 214
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 206
RettBASE 190
ISCA site 2 184
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 182
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 165
Michigan Medical Genetics Laboratories,University of Michigan 140
Broad Institute Rare Disease Group, Broad Institute 133
ClinGen RASopathy Variant Curation Expert Panel 128
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 122
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 120
Baylor Genetics 109
Centre for Mendelian Genomics,University Medical Centre Ljubljana 105
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 89
SIB Swiss Institute of Bioinformatics 80
Research and Development, ARUP Laboratories 74
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 72
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 69
Nilou-Genome Lab 66
Leiden Open Variation Database 64
Breast Cancer Information Core (BIC) (BRCA2) 61
Vantari Genetics 58
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 58
GeneKor MSA 56
King Laboratory,University of Washington 54
Institute of Human Genetics, University of Leipzig Medical Center 54
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 54
Pathway Genomics 53
ClinGen Myeloid Malignancy Variant Curation Expert Panel 52
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 51
ClinGen CDH1 Variant Curation Expert Panel 51
CFTR-France 50
ISCA site 17 46
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 46
True Health Diagnostics 45
Genomic Research Center, Shahid Beheshti University of Medical Sciences 43
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch,National Institutes of Health 43
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 43
Clinical Genetics, Erasmus University Medical Center 41
Phosphorus, Inc. 40
Reproductive Health Research and Development,BGI Genomics 39
Center of Medical Genetics and Primary Health Care 36
Johns Hopkins Genomics, Johns Hopkins University 36
CeMIA 36
Breast Cancer Information Core (BIC) (BRCA1) 35
PXE International 31
Robarts Research Institute,Western University 28
Division of Human Genetics,Medical University Innsbruck 26
LDLR-LOVD, British Heart Foundation 26
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 26
Genome Diagnostics Laboratory, The Hospital for Sick Children 25
Department of Cardiology, Chinese Academy of Medical Sciences,Fuwai Hospital 25
Claritas Genomics 24
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 24
ClinGen Hearing Loss Variant Curation Expert Panel 23
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 22
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 21
ISCA site 1 19
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 18
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 18
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 18
Northcott Neuroscience Laboratory, ANZAC Research Institute 17
Department of Pathology and Molecular Medicine,Queen's University 17
Inherited Neuropathy Consortium 17
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 16
Medical Molecular Genetics Department, National Research Center 16
ISCA site 15 15
Stanford Center for Inherited Cardiovascular Disease, Stanford University 15
Fulgent Genetics,Fulgent Genetics 14
ClinGen PAH Variant Curation Expert Panel 14
University of Washington Department of Laboratory Medicine, University of Washington 14
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 14
Neuromuscular Research,Maastricht University Medical Centre 14
IntelligeneCG 13
Reproductive Development, Murdoch Childrens Research Institute 13
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 13
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 11
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 11
Iberoamerican FH Network 10
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 10
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9
Blueprint Genetics 9
ClinGen PTEN Variant Curation Expert Panel 9
Center for Human Genetics, Inc,Center for Human Genetics, Inc 8
Willoughby Group, Queen's University Belfast 8
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 8
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 7
ISCA site 11 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 7
Carola Vinuesa Lab,John Curtin School of Medical Research 7
CSER _CC_NCGL, University of Washington 6
Human Genetics Disease in Children – Taif University,Taif University 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 6
Pharmacology and Genetics Laboratory,Bauru School of Dentistry, University of Sao Paulo 6
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 6
ClinGen TP53 Variant Curation Expert Panel,ClinGen 6
Pecori Giraldi Lab,University of Milan 6
Department of Human Genetics,University of the Free State 6
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 5
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5
Fundacion Hipercolesterolemia Familiar 5
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 5
INGEBI, INGEBI / CONICET 5
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 5
Cytogenetics and Genomics Laboratory,University of Washington 4
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 4
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 4
College of Science, Al Muthanna University,Al Muthanna University 4
Stefan Somlo Laboratory,Yale School of Medicine 4
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,The First People’s Hospital of Yunnan Province 4
Institute of Human Genetics,University Hospital Ulm 3
American College of Medical Genetics and Genomics (ACMG) 3
ISCA site 3 3
Dr. Guy Rouleau's laboratory,McGill University 3
Cytogenetics Laboratory,Banaras Hindu University 3
Muenke lab,National Institutes of Health 3
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 3
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 3
Laboratorio de Biologia Experimental,Instituto Nacional de Pediatria, Mexico 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 2
Eye Genetics Research Group,Children's Medical Research Institute 2
Nyegaard lab; Aarhus University 2
ISCA site 14 2
National Institute of Mental Health and Neurosciences 2
University of Washington Center for Mendelian Genomics, University of Washington 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 2
Oral and Maxillofacial Surgery,Tokyo Medical and Dental University 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2
Department of Ophthalmology,Flinders University 2
Department of Medical Genetics, University Hospital of North Norway 2
Neurogenetics Research Program, University of Adelaide 2
Santos-Cortez Lab,University of Colorado School of Medicine 2
Molecular Oncology Laboratory,Hospital Clínico San Carlos 2
Division of Genomics,Kyushu university 2
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 2
SingHealth Duke-NUS Institute of Precision Medicine 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2
Dash Lab,University Health Network 2
Polak associated Lab,IMAGINE Institute 2
Centre for Medical Genetics, Mumbai 2
Cancer Genomics Group,Japanese Foundation For Cancer Research 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 2
Applied Genomics Center,Hong Kong University of Science and Technology 2
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1
Versiti Diagnostic Laboratories,Versiti, Inc 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1
Elahi Laboratory, University of Tehran 1
Laboratorio de Genetica Humana; Universidad de los Andes 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 1
University of British Columbia 1
Centre for Human Genetics 1
Northeastern University 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 1
CeGaT Praxis fuer Humangenetik Tuebingen 1
NIHR Bioresource Rare Diseases, University of Cambridge 1
Heart Center,Academic Medical Center Amsterdam 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1
Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development,UConn Health Center 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1
Neurometabolisches Labor,University hospital Tuebingen 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 1
New Leaf Center 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1
Medical Institute of Bioregulation,Kyushu university 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 1
Department of Human Genetics, University Hospital Magdeburg 1
Dept. of Medical Genetics, Telemark Hospital Trust 1
Division of Genetic Medicine, Lausanne University Hospital 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1
Gharavi Laboratory,Columbia University 1
Breda Genetics srl 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1
Belal Azab Laboratory,The University of Jordan 1
SavaGenome Genetic Health Clinic 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 1
Mount Sinai Diagnostic Laboratory,Icahn School of Medicine at Mount Sinai 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 1
Pars Genome Lab 1
Breast Center,Key Laboratory of Carcinogenesis and Translational Research 1
LifeCell International Pvt. Ltd 1
The Core Laboratory in Medical Center of Clinical Research,Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 1
?Provincial Medical Genetics Program?,BC Women and Children's Hospital 1
Physiology,Radboud University Medical Center 1

Breakdown by condition #

Total conditions: 3715
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Condition Variants
not provided 78003
not specified 33109
See cases 4203
none provided 2887
Hereditary cancer-predisposing syndrome 1636
Cardiovascular phenotype 1595
History of neurodevelopmental disorder 1196
Tibial muscular dystrophy 1183
Cardiomyopathy 1175
Myopathy, myofibrillar, 9, with early respiratory failure 1082
Breast-ovarian cancer, familial 2 869
Leigh syndrome 798
Breast-ovarian cancer, familial 1 759
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 716
Primary ciliary dyskinesia 669
Retinitis pigmentosa 627
Tuberous sclerosis 2 599
Hereditary breast and ovarian cancer syndrome 472
Long QT syndrome 470
Collagen VI-related myopathy 398
Familial thoracic aortic aneurysm and aortic dissection 372
Fanconi anemia 338
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 334
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 327
Charcot-Marie-Tooth disease 323
Seizures 320
Spastic paraplegia 316
Early infantile epileptic encephalopathy with suppression bursts 314
Tuberous sclerosis 1 261
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 246
Occult macular dystrophy 246
Hereditary nonpolyposis colorectal neoplasms 240
Familial hypercholesterolemia 1 239
Familial cancer of breast 227
Hypertrophic cardiomyopathy 219
Duchenne muscular dystrophy 217
Malignant tumor of breast 210
Lynch syndrome 204
Myopathy, early-onset, with fatal cardiomyopathy 199
Bethlem myopathy 1 196
Epileptic encephalopathy 195
Nemaline myopathy 2 191
Rasopathy 183
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 178
Limb-girdle muscular dystrophy, type 2J 178
Charcot-Marie-Tooth disease, type 2 175
Premature ovarian failure 167
Polycystic kidney disease, adult type 166
Ataxia-telangiectasia syndrome 164
Ehlers-Danlos syndrome, classic type 162
Gorlin syndrome 161
Bardet-Biedl syndrome 157
Brugada syndrome 155
Familial hypercholesterolemia 153
Charcot-Marie-Tooth disease type 4 148
Nephronophthisis 143
Polycystic kidney disease 143
Familial adenomatous polyposis 1 142
Autosomal dominant cerebellar ataxia 138
Vitreoretinopathy 138
Disorders of Intracellular Cobalamin Metabolism 135
Fraser syndrome 1 135
Epilepsy, focal, with speech disorder and with or without mental retardation 131
Weill-Marchesani syndrome 130
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 129
Dilated cardiomyopathy 1G 128
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 126
Mononeuropathy of the median nerve, mild 125
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 125
Familial hyperkalemic periodic paralysis 123
Catecholaminergic polymorphic ventricular tachycardia 122
RYR1-Related Disorders 122
Autosomal recessive polycystic kidney disease 121
Congenital contractural arachnodactyly 121
Usher syndrome type 1 121
Monogenic diabetes 120
Fibrous dysplasia of jaw 119
MYH9-related disorder 119
Paroxysmal extreme pain disorder 118
Spinocerebellar ataxia, autosomal recessive 8 115
Familial hypoalphalipoproteinemia 114
Pheochromocytoma 114
Craniosynostosis syndrome 112
Palmoplantar keratoderma, nonepidermolytic, focal 2 112
Porencephaly 2 112
Arrhythmia 111
Charcot-Marie-Tooth disease, type 4C 111
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 111
Primary dilated cardiomyopathy 110
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 108
Alport syndrome 107
Hypokalemic periodic paralysis 1 107
Joubert syndrome; Meckel-Gruber syndrome 107
Potassium-aggravated myotonia 106
Benign familial neonatal seizures 2 105
Primary erythromelalgia 105
Ellis-van Creveld syndrome 104
Malignant hyperthermia, susceptibility to, 1 104
Microcephalic osteodysplastic primordial dwarfism type II 104
Adams-Oliver syndrome 5 102
Pseudohypoaldosteronism type 2C 102
Hereditary Paraganglioma-Pheochromocytoma Syndromes 101
Lethal Kniest-like syndrome 101
Schwartz-Jampel syndrome 101
Dyskeratosis congenita 100
Freeman-Sheldon syndrome 100
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 99
Aortic aneurysm, familial thoracic 4 98
Maple syrup urine disease 98
Paramyotonia congenita of von Eulenburg 98
Retinoblastoma 98
Alstrom syndrome 97
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 97
Ellis-van Creveld syndrome; Curry-Hall syndrome 97
Platelet-type bleeding disorder 9 97
Autosomal dominant polycystic kidney disease 96
Craniometaphyseal dysplasia, autosomal dominant 95
Greig cephalopolysyndactyly syndrome 95
Hypokalemic periodic paralysis, type 2 95
Hyperaldosteronism, familial, type I 94
Neurofibromatosis, type 1 94
Pallister-Hall syndrome 94
Polydactyly 94
Cohen syndrome 93
Cystic fibrosis 93
Catecholaminergic polymorphic ventricular tachycardia type 1 92
Chondrocalcinosis 2 92
Hereditary sensory and autonomic neuropathy type IC 92
Usher syndrome, type 2A 92
Brain small vessel disease 1 with or without ocular anomalies 91
Geleophysic dysplasia 90
Osteogenesis imperfecta 90
Abnormality of neuronal migration 89
Acromicric dysplasia 89
Ectopia lentis, isolated, autosomal dominant 89
Stiff skin syndrome 89
Weill-Marchesani syndrome 4 89
Bare lymphocyte syndrome 2 88
Jeune thoracic dystrophy 88
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 88
Baller-Gerold syndrome 87
Charcot-Marie-Tooth disease, axonal, type 2O 87
Donnai-Barrow syndrome 87
Neuronal ceroid lipofuscinosis 87
Minicore myopathy with external ophthalmoplegia 86
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 86
Holoprosencephaly 11 85
Focal cortical dysplasia type II 84
Hereditary diffuse gastric cancer 84
Joubert syndrome 84
Alpha thalassemia-X-linked intellectual disability syndrome 83
CHARGE association 83
Colorectal cancer, susceptibility to, 12 81
Dystonia 81
Fleck corneal dystrophy 80
Kleefstra syndrome 1 80
Renal cell carcinoma, papillary, 1 80
Fraser syndrome 2 79
Gastrointestinal stromal tumor 79
Wilms tumor 1 79
Imerslund-Gräsbeck syndrome 1 78
Optic atrophy 3 78
Neuroblastoma 3 77
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 77
Vesicoureteral reflux 2 77
Imerslund-Gräsbeck syndrome 76
Oculotrichoanal syndrome 76
Severe neonatal-onset encephalopathy with microcephaly 76
Brachydactyly 75
Heterotaxy, visceral, 4, autosomal 75
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 75
Qualitative or quantitative defects of dysferlin 75
Wagner syndrome 75
Amyotrophy, hereditary neuralgic 74
Carcinoma of colon 74
Coffin-Siris syndrome 74
Familial hypertrophic cardiomyopathy 14 74
Marfan syndrome 74
Telangiectasia, hereditary hemorrhagic, type 2 74
Choreoacanthocytosis 73
Ehlers-Danlos syndrome dermatosparaxis type 73
Generalized juvenile polyposis/juvenile polyposis coli 73
Blau syndrome 72
Kabuki syndrome 72
Thrombocytopenia 2 72
Caudal regression sequence 71
Focal segmental glomerulosclerosis 5 71
Myasthenic syndrome, congenital, 8 71
Nail-patella syndrome 71
Progressive sclerosing poliodystrophy 71
Usher syndrome type 1D 71
Familial platelet disorder with associated myeloid malignancy 70
Laminin alpha 2-related dystrophy 70
Mitochondrial complex I deficiency, nuclear type 1 70
Parietal foramina 2 70
Pitt-Hopkins syndrome 70
Rhabdoid tumor predisposition syndrome 2 70
Aortic aneurysm, familial thoracic 7 69
Central core myopathy 69
Fanconi anemia, complementation group A 69
Type II Collagenopathies 69
Usher syndrome, type 2C 69
Autosomal dominant pseudohypoaldosteronism type 1 68
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 68
Ehlers-Danlos syndrome, type 4 68
Familial cold autoinflammatory syndrome 2 68
Nicolaides-Baraitser syndrome 68
Renal dysplasia 68
Ehlers-Danlos syndrome classic type 2 67
Ehlers-Danlos syndrome, procollagen proteinase deficient 67
Junctional epidermolysis bullosa 67
Arterial calcification, generalized, of infancy, 1 66
Atypical hemolytic-uremic syndrome 5 66
Glycogen storage disease, type II 66
Oligodontia-colorectal cancer syndrome 66
Pitt-Hopkins-like syndrome 1 66
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 66
Cutaneous malignant melanoma 5 65
Hereditary sensory neuropathy type IE 65
MAPT-Related Spectrum Disorders 65
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 64
Colorectal cancer 10 64
Growth delay due to insulin-like growth factor I resistance 64
Non-ketotic hyperglycinemia 64
Palmoplantar keratoderma-esophageal carcinoma syndrome 64
Parkinson disease 8, autosomal dominant 64
Posterior column ataxia-retinitis pigmentosa syndrome 64
Cone-rod dystrophy 2 63
Hereditary diffuse leukoencephalopathy with spheroids 63
Insulin-resistant diabetes mellitus AND acanthosis nigricans 63
Pineal hyperplasia AND diabetes mellitus syndrome 63
Brachydactyly type B1 62
Cataract 18 62
Erythrocytosis, familial, 4 62
Leprechaunism syndrome 62
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 62
Primary pulmonary hypertension 1 62
Thyroid hormone resistance, generalized, autosomal dominant 62
Autosomal dominant distal renal tubular acidosis 61
Cataract 6, multiple types 61
Congenital stationary night blindness, autosomal dominant 2 61
Danon disease 61
Emery-Dreifuss muscular dystrophy 61
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 61
Alternating hemiplegia of childhood 1 60
Amyotrophic lateral sclerosis type 4 60
Cone-rod dystrophy 5 60
Encephalopathy, acute, infection-induced, 3, suceptibility to 60
Factor V deficiency 60
Knobloch syndrome 1 60
Luscan-lumish syndrome 60
Multiple cutaneous and mucosal venous malformations 60
Multiple fibrofolliculomas 60
Myopathy, distal, 1 60
Tangier disease 60
Age-related macular degeneration 1 59
Charcot-Marie-Tooth disease, dominant intermediate B 59
Common variable immunodeficiency 8, with autoimmunity 59
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 59
Hypophosphatemic rickets, autosomal recessive, 2 59
Lymphoproliferative syndrome 2, X-linked 59
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 59
Spondylometaphyseal dysplasia, Kozlowski type 59
Autosomal dominant nonsyndromic deafness 6 58
Brachyrachia (short spine dysplasia) 58
Congenital microvillous atrophy 58
Distal spinal muscular atrophy, congenital nonprogressive 58
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 58
Holt-Oram syndrome 58
Metatrophic dysplasia 58
Neuroblastoma 58
Neuronal ceroid lipofuscinosis 4B 58
Scapuloperoneal spinal muscular atrophy 58
Bardet-Biedl syndrome 1 57
Congenital hyperammonemia, type I 57
Episodic ataxia type 1 57
Hereditary pancreatitis 57
Hypohidrotic ectodermal dysplasia 57
Inborn genetic diseases 57
Isolated Nonsyndromic Congenital Heart Disease 57
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 57
Werner syndrome 57
Deafness, autosomal dominant 11 56
Diaphyseal medullary stenosis-bone malignancy syndrome 56
Epidermolysis bullosa junctionalis with pyloric atresia 56
Galactosylceramide beta-galactosidase deficiency 56
Tuberous sclerosis syndrome 56
Autosomal dominant nocturnal frontal lobe epilepsy 55
Chédiak-Higashi syndrome 55
Epileptic encephalopathy, early infantile, 30 55
Episodic ataxia, type 5 55
Fanconi anemia, complementation group P 55
Gamma-aminobutyric acid transaminase deficiency 55
Holoprosencephaly 7 55
Netherton syndrome 55
Polydactyly, preaxial II 55
Short-rib thoracic dysplasia 3 with or without polydactyly 55
Transient neonatal diabetes mellitus 2 55
Auriculocondylar syndrome 2 54
Creatine transporter deficiency 54
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 54
Erythrocytosis, familial, 3 54
Familial hypercholesterolemia 3 54
Fibrosis of extraocular muscles, congenital, 1 54
Lynch syndrome I 54
Stüve-Wiedemann syndrome 54
Von Hippel-Lindau syndrome 54
Wilson disease 54
Congenital myasthenic syndrome 53
Dilated cardiomyopathy 1JJ 53
Ehlers-danlos syndrome, arthrochalasia type, 2 53
Epilepsy, nocturnal frontal lobe, type 4 53
Familial cold autoinflammatory syndrome 3 53
Immunodeficiency 26 with or without neurologic abnormalities 53
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 53
Pseudohypoparathyroidism type 1B 53
Speech-language disorder 1 53
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 53
Achondrogenesis, type IA 52
Bare lymphocyte syndrome type 1 52
Beckwith-Wiedemann syndrome 52
Cone-rod dystrophy 7 52
Early infantile epileptic encephalopathy 12 52
Idiopathic hypereosinophilic syndrome 52
Leukocyte adhesion deficiency 1 52
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 52
Multiple endocrine neoplasia 52
Norman-Roberts syndrome 52
Pontoneocerebellar hypoplasia 52
Progressive myoclonic epilepsy 52
Spastic paraplegia 48, autosomal recessive 52
Spherocytosis type 1 52
Acrodysostosis 2, with or without hormone resistance 51
Early myoclonic encephalopathy 51
Exudative vitreoretinopathy 1 51
Histiocytic medullary reticulosis 51
Hyperthyroidism, nonautoimmune 51
Pancreatic cancer 1 51
Retinal cone dystrophy 4 51
Rotor syndrome 51
Seizures, benign familial infantile, 3 51
Adrenoleukodystrophy 50
Autosomal dominant nonsyndromic deafness 22 50
Ciliary dyskinesia, primary, 3 50
Cone-rod dystrophy 50
Dilated cardiomyopathy 1KK 50
Frank-Ter Haar syndrome 50
Hereditary spastic paraplegia 6 50
Indifference to pain, congenital, autosomal recessive 50
Niemann-Pick disease type C1 50
Pseudohypoaldosteronism type 2B 50
Ulnar-mammary syndrome 50
Bloom syndrome 49
Deafness, autosomal dominant 4 49
Dystonia 12 49
Elliptocytosis 2 49
Hermansky-Pudlak syndrome 49
Majeed syndrome 49
Myhre syndrome 49
Orotic aciduria 49
Osteoglophonic dysplasia 49
PTEN hamartoma tumor syndrome 49
Autoimmune lymphoproliferative syndrome 48
Beaded hair 48
Charcot-Marie-Tooth disease, type 4H 48
Diabetes mellitus, neonatal, with congenital hypothyroidism 48
Hereditary nonpolyposis colorectal cancer type 7 48
Metachromatic leukodystrophy 48
Nemaline myopathy 6 48
Neurofibromatosis, type 2 48
Polycystic liver disease 1 48
Romano-Ward syndrome 48
Sick sinus syndrome 1, autosomal recessive 48
WFS1-Related Spectrum Disorders 48
Arrhythmogenic right ventricular dysplasia 9 47
Distal hereditary motor neuronopathy type 5 47
Hennekam lymphangiectasia-lymphedema syndrome 1 47
Loeys-Dietz syndrome 4 47
Neurofibromatosis-Noonan syndrome 47
Peutz-Jeghers syndrome 47
Symmetrical dyschromatosis of extremities 47
Trigonocephaly 1 47
APC-Associated Polyposis Disorders 46
Atypical hemolytic-uremic syndrome 1 46
Autoimmune lymphoproliferative syndrome, type 2A 46
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 46
Koolen-de Vries syndrome 46
Lethal multiple pterygium syndrome 46
Macular corneal dystrophy 46
Mowat-Wilson syndrome 46
Neuromuscular disease, congenital, with uniform type 1 fiber 46
Peroxisome biogenesis disorder 1A (Zellweger) 46
Polycystic liver disease 2 46
Pyruvate dehydrogenase E1-alpha deficiency 46
Saldino-Mainzer syndrome 46
Vici syndrome 46
Breast and/or ovarian cancer 45
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 45
Chronic infantile neurological, cutaneous and articular syndrome 45
Familial amyloid nephropathy with urticaria AND deafness 45
Foveal hypoplasia and presenile cataract syndrome 45
Glycogen storage disease type III 45
Hereditary motor and sensory neuropathy with optic atrophy 45
Microcephaly, normal intelligence and immunodeficiency 45
Nephropathic cystinosis 45
Otofaciocervical syndrome 1 45
Three M syndrome 2 45
Treacher Collins syndrome 1 45
Type 2 diabetes mellitus 45
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 45
Amyotrophic lateral sclerosis 21 44
Atrichia with papular lesions 44
Autosomal recessive pseudohypoaldosteronism type 1 44
Charcot-Marie-Tooth disease axonal type 2C 44
Episodic ataxia, type 6 44
Familial cold autoinflammatory syndrome 1 44
Gingival fibromatosis 1 44
Glanzmann thrombasthenia 44
Keratitis, hereditary 44
Kindler syndrome 44
Left ventricular noncompaction 8 44
Multiple endocrine neoplasia, type 2 44
Rubinstein-Taybi syndrome 44
Rubinstein-Taybi syndrome 2; Colorectal cancer 44
Striatal degeneration, autosomal dominant 1 44
TP63-Related Spectrum Disorders 44
Alopecia universalis congenita 43
Amyotrophic lateral sclerosis type 8 43
Beare-Stevenson cutis gyrata syndrome 43
Congenital disorder of glycosylation 43
Congenital myasthenic syndrome, acetazolamide-responsive 43
Cutis laxa with osteodystrophy 43
Developmental and epileptic encephalopathy 94 43
Distal arthrogryposis type 1B 43
Distal arthrogryposis type 2B 43
Familial hemiplegic migraine type 2 43
Familial visceral amyloidosis, Ostertag type 43
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 43
Hereditary angioedema type 1 43
Holoprosencephaly 9 43
Left ventricular noncompaction 10 43
Mental retardation, X-linked 93 43
Myopathy, centronuclear, 1 43
Osteogenesis imperfecta type I 43
Perry syndrome 43
Pitt-Hopkins-like syndrome 2 43
Primary autosomal recessive microcephaly 5 43
Pseudohypoaldosteronism type 2D 43
Pseudohypoaldosteronism type 2E 43
Short QT syndrome 2 43
Spastic paraplegia 11, autosomal recessive 43
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 43
Tietz syndrome 43
Acrocallosal syndrome 42
Arrhythmogenic right ventricular cardiomyopathy, type 10 42
Bronchiectasis with or without elevated sweat chloride 2 42
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 42
Crouzon syndrome 42
Familial hemophagocytic lymphohistiocytosis 3 42
Familial hypokalemia-hypomagnesemia 42
Hereditary coproporphyria 42
Holocarboxylase synthetase deficiency 42
Hypogonadotropic hypogonadism 5 with or without anosmia 42
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 42
KBG syndrome 42
Macular dystrophy, vitelliform, adult-onset 42
Meretoja syndrome 42
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 42
Ocular cystinosis 42
Pityriasis rubra pilaris; Psoriasis susceptibility 2 42
Qualitative or quantitative defects of delta-sarcoglycan 42
White sponge nevus 1 42
Abnormality of esophagus morphology 41
Biotin-responsive basal ganglia disease 41
Brooke-Spiegler syndrome 41
Cylindromatosis, familial 41
Distal spinal muscular atrophy 41
Familial isolated hypoparathyroidism 41
Idiopathic generalized epilepsy 41
Maturity-onset diabetes of the young, type 1 41
Spinal muscular atrophy, X-linked 2 41
Autosomal dominant optic atrophy classic form 40
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 40
Branchiootic syndrome 1 40
Budd-Chiari syndrome 40
Cutis laxa, autosomal dominant 1 40
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 40
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 40
Hyperekplexia 2 40
Hypomyelinating leukodystrophy 7 40
Ichthyosis bullosa of Siemens 40
Leber congenital amaurosis 40
Leukoencephalopathy with vanishing white matter 40
Mental retardation, autosomal dominant 1 40
Multiple endocrine neoplasia, type 1 40
Multiple exostoses type 2 40
Oculofaciocardiodental syndrome 40
Orthostatic hypotension 1 40
Paroxysmal nonkinesigenic dyskinesia 1 40
Permanent neonatal diabetes mellitus 40
Sick sinus syndrome 2, autosomal dominant 40
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 40
Supravalvar aortic stenosis 40
Thrombophilia due to thrombin defect 40
Xeroderma pigmentosum variant type 40
Zonular pulverulent cataract 3 40
Corneal dystrophy 39
Deficiency of 2-methylbutyryl-CoA dehydrogenase 39
Dilated cardiomyopathy 3B 39
Dystonia 9 39
Familial dysautonomia 39
Familial multiple trichoepitheliomata 39
GLUT1 deficiency syndrome 1 39
Holoprosencephaly sequence 39
Macular degeneration 39
Mitochondrial complex IV deficiency 39
Mucopolysaccharidosis type 1 39
Mucopolysaccharidosis, MPS-II 39
Myofibrillar myopathy, ZASP-related 39
Pyridoxine-dependent epilepsy 39
Abetalipoproteinaemia 38
Andersen Tawil syndrome 38
Atypical hemolytic-uremic syndrome 6 38
Autosomal recessive limb-girdle muscular dystrophy type 2B 38
Brugada syndrome 5 38
Choroidal dystrophy, central areolar 2 38
Cleidocranial dysostosis 38
Congenital Muscular Dystrophy, alpha-dystroglycan related 38
Coxopodopatellar syndrome 38
Deafness, autosomal recessive 12 38
Epidermolysis bullosa simplex due to plakophilin deficiency 38
FG syndrome 1 38
Familial Mediterranean fever 38
Orofaciodigital syndrome type 6; Joubert syndrome 17 38
Renal hypouricemia 2 38
Sorsby fundus dystrophy 38
Succinate-semialdehyde dehydrogenase deficiency 38
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 37
Angiokeratoma corporis diffusum with arteriovenous fistulas 37
Benign familial neonatal seizures 37
Cardiac arrhythmia, ankyrin B-related 37
Charcot-Marie-Tooth disease, type I 37
D-2-hydroxyglutaric aciduria 1 37
Dilated cardiomyopathy 1DD 37
Familial hypertrophic cardiomyopathy 4 37
Immunodeficiency 31a 37
Immunodeficiency 35 37
Liddle syndrome 2 37
Megalencephalic leukoencephalopathy with subcortical cysts 1 37
Myopathy, proximal, and ophthalmoplegia 37
Neural tube defect 37
Osteopetrosis 37
Quebec platelet disorder 37
Saethre-Chotzen syndrome 37
Severe combined immunodeficiency due to DCLRE1C deficiency 37
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 37
Spinocerebellar ataxia 35 37
Tumor susceptibility linked to germline BAP1 mutations 37
Usher syndrome, type 1B 37
Vitamin B12-responsive methylmalonic acidemia type cblB 37
Charcot-Marie-Tooth disease, dominant intermediate C 36
Cone-rod dystrophy 12 36
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 36
Deafness, autosomal recessive 3 36
Deficiency of pyrroline-5-carboxylate reductase 36
Familial hypertrophic cardiomyopathy 1 36
Fibrochondrogenesis 1 36
Focal segmental glomerulosclerosis 3, susceptibility to 36
Hereditary spastic paraplegia 39 36
Immunodeficiency 40 36
Immunodeficiency 51 36
Joubert syndrome 17 36
Meacham syndrome 36
Mental retardation, autosomal recessive 15 36
Mucopolysaccharidosis, MPS-IV-A 36
Neurodegeneration with brain iron accumulation 4 36
Otospondylomegaepiphyseal dysplasia, autosomal recessive 36
Polyglandular autoimmune syndrome, type 1 36
Progressive familial heart block type IB 36
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 36
Pyruvate dehydrogenase E3-binding protein deficiency 36
Short QT syndrome 3 36
Thrombocytopenia 36
Waardenburg syndrome type 2A 36
Agenesis of the corpus callosum with peripheral neuropathy 35
Alternating hemiplegia of childhood 2 35
Anterior segment dysgenesis 7 35
Autosomal dominant nonsyndromic deafness 17 35
CEDNIK syndrome 35
Deficiency of alpha-mannosidase 35
Distal hereditary motor neuronopathy type 7B 35
Distal spinal muscular atrophy, autosomal recessive 4 35
Doyne honeycomb retinal dystrophy 35
Epidermodysplasia verruciformis 35
FLNB-Related Spectrum Disorders 35
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 35
Hereditary nonpolyposis colorectal cancer type 4 35
Hermansky-Pudlak syndrome 1 35
Hyperalphalipoproteinemia 1 35
Idiopathic basal ganglia calcification 1 35
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 35
Transcolabamin II deficiency 35
Xanthinuria type II 35
carboxymethyl-dextran-A2-gadolinium-DOTA 35
van der Woude syndrome 1 35
3-Methylglutaconic aciduria type 3 34
Bone marrow failure syndrome 1 34
Brugada syndrome 1 34
Congenital stationary night blindness, type 1C 34
Dilated cardiomyopathy 1W 34
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 34
Epileptic encephalopathy, early infantile, 36 34
Epiphyseal dysplasia, multiple, 2 34
Fanconi anemia, complementation group D2 34
Focal segmental glomerulosclerosis 2 34
Hereditary pyropoikilocytosis 34
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 34
Irido-corneo-trabecular dysgenesis 34
Junctional epidermolysis bullosa, non-Herlitz type 34
Loeys-Dietz syndrome 34
Metaphyseal chondrodysplasia, Schmid type 34
Noonan syndrome 34
Orofacial cleft 6, susceptibility to 34
Peters plus syndrome 34
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 34
Spastic paraplegia 4, autosomal dominant 34
Adult proximal spinal muscular atrophy, autosomal dominant 33
Arrhythmogenic right ventricular dysplasia, familial, 2 33
Blau syndrome; Inflammatory bowel disease 1 33
Bronchiectasis with or without elevated sweat chloride 1 33
Carpenter syndrome 2 33
Familial hyperaldosteronism type 3 33
Familial hypercholesterolemia 2 33
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 33
Herpes simplex encephalitis 1 33
Holoprosencephaly 9; Culler-Jones syndrome 33
Hypoparathyroidism-deafness-renal disease syndrome 33
Joubert syndrome 1 33
Liddle syndrome 1 33
Lissencephaly 4 33
Mastocytosis 33
Mental retardation, autosomal dominant 5 33
Myofibrillar myopathy, BAG3-related 33
Perlman syndrome 33
Polymicrogyria, bilateral frontoparietal 33
Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 33
Senior-Loken syndrome 4 33
Spastic paraplegia 33, autosomal dominant 33
Spondyloepiphyseal dysplasia with congenital joint dislocations 33
White sponge nevus 2 33
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 32
Cardiac arrhythmia 32
Cholestasis, progressive familial intrahepatic 1 32
Congenital myasthenic syndrome 12 32
Cornelia de Lange syndrome 1 32
Cranioectodermal dysplasia 2 32
Cutis laxa 32
Deficiency of ferroxidase 32
Dilated cardiomyopathy 1O 32
Epidermolysis bullosa simplex 32
Epileptic encephalopathy, early infantile, 26 32
Familial focal epilepsy with variable foci 32
Hypomagnesemia 4, renal 32
Inflammatory bowel disease 28, autosomal recessive 32
Limb-Girdle Muscular Dystrophy, Recessive 32
Microcytic anemia 32
Multiple endocrine neoplasia, type 4 32
Peroxisomal acyl-CoA oxidase deficiency 32
Pseudoxanthoma elasticum 32
Pyruvate carboxylase deficiency 32
Rigidity and multifocal seizure syndrome, lethal neonatal 32
Short-rib thoracic dysplasia 7 with or without polydactyly 32
Sitosterolemia 1 32
Smith-Lemli-Opitz syndrome 32
Spastic paraplegia 49, autosomal recessive 32
Spherocytosis type 3 32
Spinal muscular atrophy, distal, autosomal recessive, 1 32
Stickler syndrome type 1 32
Tay-Sachs disease, variant AB 32
Xeroderma pigmentosum, group F 32
Zellweger syndrome 32
Age-related macular degeneration 9 31
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 31
Aniridia 1 31
Arterial tortuosity syndrome 31
Brittle cornea syndrome 1 31
Brugada syndrome 8 31
Charlevoix-Saguenay spastic ataxia 31
Ciliary dyskinesia, primary, 15 31
Congenital central hypoventilation 31
Congenital muscular dystrophy due to partial LAMA2 deficiency 31
Deafness, autosomal recessive 77 31
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 31
Familial Candidiasis, Recessive 31
Familial hemiplegic migraine 31
Gaucher disease, atypical, due to saposin C deficiency 31
Giant axonal neuropathy 1 31
Hereditary hemorrhagic telangiectasia type 1 31
Hypomagnesemia 6, renal 31
Immunodeficiency 14 31
Long QT syndrome 3 31
Maturity-onset diabetes of the young, type 11 31
Nephronophthisis 4 31
Osteogenesis imperfecta type 7 31
Small fiber neuropathy 31
Usher syndrome type 1F 31
Arrhythmogenic right ventricular dysplasia, familial, 13 30
Autism spectrum disorder 30
Autosomal recessive omodysplasia 30
Classic homocystinuria 30
Complement component 3 deficiency, autosomal recessive 30
Congenital stationary night blindness, type 1E 30
Diamond-Blackfan anemia 30
Fanconi anemia, complementation group I 30
Fanconi anemia, complementation group J 30
Gonadotropin-independent familial sexual precocity 30
Histiocytosis-lymphadenopathy plus syndrome 30
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 30
Hypomyelination and Congenital Cataract 30
Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 30
Keratosis follicularis 30
LEOPARD syndrome 1 30
Leber congenital amaurosis 7 30
Legius syndrome 30
Metachondromatosis 30
Mitochondrial trifunctional protein deficiency 30
Molybdenum cofactor deficiency, complementation group A 30
Mucopolysaccharidosis type 6 30
Multiple sulfatase deficiency 30
Multiple synostoses syndrome 3 30
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 30
Nephronophthisis 14 30
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 30
Protoporphyria, erythropoietic, 1 30
Renal carnitine transport defect 30
Three M syndrome 1 30
Very long chain acyl-CoA dehydrogenase deficiency 30
Vitamin K-dependent clotting factors, combined deficiency of, 1 30
Afibrinogenemia, congenital 29
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 29
Brain small vessel disease with hemorrhage 29
Café-au-lait macules with pulmonary stenosis 29
Congenital ichthyosis of skin 29
Deafness, autosomal dominant 12 29
Deafness, autosomal recessive 9 29
Familial cancer of breast; Fanconi anemia, complementation group J 29
Familial hemophagocytic lymphohistiocytosis 2 29
Finnish congenital nephrotic syndrome 29
Hepatic veno-occlusive disease-immunodeficiency syndrome 29
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type 29
Hyaline fibromatosis syndrome 29
Isovaleryl-CoA dehydrogenase deficiency 29
Jeune thoracic dystrophy; Nephronophthisis 29
Leber congenital amaurosis 4 29
Leukodystrophy, hypomyelinating, 6 29
Mental retardation 3, X-linked 29
Methylmalonate semialdehyde dehydrogenase deficiency 29
Mucolipidosis type II 29
Mucopolysaccharidosis, MPS-III-A 29
Myoclonic epilepsy, familial infantile 29
Myoclonic-atonic epilepsy 29
Myotonia congenita 29
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 29
Nephronophthisis-like nephropathy 1 29
Nephrotic syndrome, type 3 29
Neurofibromatosis, familial spinal 29
Parathyroid carcinoma 29
Primary autosomal recessive microcephaly 2 29
Renal tubular acidosis, distal, autosomal recessive 29
Seckel syndrome 1 29
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 29
Short rib-polydactyly syndrome, Majewski type 29
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 29
Spherocytosis type 4 29
Age-related macular degeneration 4 28
Autosomal dominant torsion dystonia 4 28
Bartsocas-Papas syndrome 28
Cataract (disease) 28
Cerebellar ataxia, Cayman type 28
Combined oxidative phosphorylation deficiency 8 28
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 28
Ehlers-Danlos syndrome, hydroxylysine-deficient 28
Epileptic encephalopathy, early infantile, 31 28
Erythrokeratodermia variabilis et progressiva 1 28
Fanconi anemia, complementation group D1 28
Gray platelet syndrome 28
Hereditary factor VIII deficiency disease 28
Hereditary insensitivity to pain with anhidrosis 28
Hyperlipoproteinemia, type I 28
Hystrix-like ichthyosis with deafness 28
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 28
Lethal acantholytic epidermolysis bullosa 28
Loeys-Dietz syndrome 2 28
Maple syrup urine disease, type 3 28
Mental retardation, X-linked 1 28
Osteopetrosis, autosomal recessive 5 28
Peroxisome biogenesis disorder 7A 28
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 28
Propionic acidemia 28
Sialuria 28
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 28
Transient neonatal diabetes mellitus 3 28
Waardenburg syndrome 28
46,XY sex reversal, type 6 27
ALG9 congenital disorder of glycosylation 27
Achondrogenesis, type IB 27
Aromatase deficiency 27
Atelosteogenesis type II 27
Charcot-Marie-Tooth disease, type 4B2 27
Congenital glucose-galactose malabsorption 27
Diaphanospondylodysostosis 27
Dubin-Johnson syndrome 27
Dystonia 5 27
Dystrophic epidermolysis bullosa 27
Familial infantile myasthenia 27
Farber disease 27
Glycogen storage disease, type V 27
Hemolytic anemia 27
Hepatic methionine adenosyltransferase deficiency 27
Hereditary hemorrhagic telangiectasia 27
Hereditary nonpolyposis colorectal cancer type 5 27
Hypophosphatasia 27
Immunodeficiency 30 27
Kabuki syndrome 1 27
Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 27
Lig4 syndrome 27
Multiple gastrointestinal atresias 27
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 27
Niemann-Pick disease, type B; Niemann-Pick disease, type A 27
Osteogenesis imperfecta type 8 27
Pigmented paravenous chorioretinal atrophy 27
Pitt-Hopkins-like syndrome 27
Polymorphous corneal dystrophy 27
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 27
Surfactant metabolism dysfunction, pulmonary, 3 27
VACTERL association, X-linked, with or without hydrocephalus 27
Warburg micro syndrome 3 27
Xeroderma pigmentosum, group G 27
beta Thalassemia 27
Achromatopsia 26
Alport syndrome 1, X-linked recessive 26
Alzheimer disease, type 4 26
Atypical hemolytic-uremic syndrome 3 26
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 26
Bietti crystalline corneoretinal dystrophy 26
Brachydactyly type A1 26
Bullous ichthyosiform erythroderma 26
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Myasthenic syndrome, congenital, 17 26
Charcot-Marie-Tooth disease type 2P 26
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 26
Deficiency of steroid 11-beta-monooxygenase 26
Dent disease type 1 26
Desbuquois dysplasia 1 26
Diastrophic dysplasia 26
Dilated Cardiomyopathy, Dominant 26
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 26
Fibrochondrogenesis 2 26
Genetic prion disease 26
Hereditary spastic paraplegia 15 26
Hereditary spastic paraplegia 8 26
Hermansky-Pudlak syndrome 2 26
Hypogonadotropic hypogonadism 2 with or without anosmia 26
Idiopathic Pulmonary Fibrosis 26
Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 26
Limb-girdle muscular dystrophy, type 1E 26
Limb-girdle muscular dystrophy, type 2A 26
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 26
Megalencephalic leukoencephalopathy with subcortical cysts 26
Metaphyseal anadysplasia 26
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy 26
Nephrogenic diabetes insipidus, X-linked 26
Premature ovarian failure 2b 26
Progressive familial intrahepatic cholestasis 2 26
Rhizomelic chondrodysplasia punctata type 3 26
Tyrosinemia type I 26
ACTH resistance 25
Amelogenesis imperfecta, type IV 25
Arrhythmogenic right ventricular cardiomyopathy, type 11 25
Ataxia-telangiectasia-like disorder 1 25
Axenfeld-Rieger syndrome type 1 25
Brugada syndrome 4 25
Charcot-Marie-Tooth disease, demyelinating, type 4F 25
Citrullinemia type I 25
Cone-rod dystrophy 11 25
Congenital brain dysgenesis due to glutamine synthetase deficiency 25
Congenital defect of folate absorption 25
Congenital muscular hypertrophy-cerebral syndrome 25
Congenital myopathy with fiber type disproportion 25
Cranioectodermal dysplasia 1 25
Craniosynostosis 2 25
Cystinuria 25
Deficiency of malonyl-CoA decarboxylase 25
Disseminated atypical mycobacterial infection 25
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 25
Factor v and factor viii, combined deficiency of, 2 25
Glomuvenous malformations 25
Griscelli syndrome type 2 25
Growth delay due to insulin-like growth factor type 1 deficiency 25
Growth retardation, developmental delay, coarse facies, and early death 25
Hemochromatosis type 3 25
Hemochromatosis type 4 25
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 25
Joubert syndrome; Orofaciodigital syndrome I 25
Mitochondrial complex II deficiency; Paragangliomas 5 25
Multicentric osteolysis, nodulosis and arthropathy 25
Nephrogenic diabetes insipidus, autosomal 25
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 25
Neurogenic scapuloperoneal syndrome, Kaeser type 25
PITX2-Related Eye Abnormalities 25
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 25
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 25
Phenylketonuria 25
Pigmentary retinal dystrophy 25
Primary autosomal recessive microcephaly 1 25
Primary open angle glaucoma 25
Progressive myositis ossificans 25
Renal cysts and diabetes syndrome 25
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 25
Ring dermoid of cornea 25
Schnyder crystalline corneal dystrophy 25
Seckel syndrome 5 25
Spastic paraplegia 30, autosomal recessive 25
Spinocerebellar ataxia type 11 25
Stargardt disease 4 25
Three Vessel Coronary Disease 25
Xeroderma pigmentosum, group C 25
Alzheimer disease 24
Alzheimer disease, type 3 24
Atrioventricular septal defect 4 24
Autosomal recessive DOPA responsive dystonia 24
Bardet-Biedl syndrome 12 24
Bardet-Biedl syndrome 9 24
Candidiasis, familial, 9 24
Cataract 5 multiple types 24
Caveolinopathy 24
Charcot-Marie-Tooth disease type 2D 24
Charcot-Marie-Tooth disease, type 2N 24
Corneal dystrophy-perceptive deafness syndrome 24
Cornelia de Lange syndrome 3 24
Corticosterone 18-monooxygenase deficiency 24
Corticosterone methyloxidase type 2 deficiency 24
Cryopyrin associated periodic syndrome 24
Deafness, autosomal dominant 10 24
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 24
Epidermolysis bullosa dystrophica inversa, autosomal recessive 24
Familial hemophagocytic lymphohistiocytosis 4 24
Glycogen storage disease 0, muscle 24
Hajdu-Cheney syndrome 24
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor IX defect 24
Hereditary hemochromatosis 24
Hereditary spastic paraplegia 3A 24
Hirschsprung disease 1 24
Hypercalcemia, infantile, 1 24
Hypobetalipoproteinemia 24
Inherited Erythromelalgia 24
Interleukin 2 receptor, alpha, deficiency of 24
Iodotyrosyl coupling defect 24
Jervell and Lange-Nielsen syndrome 2 24
LEOPARD syndrome 2 24
Lynch syndrome II 24
Matthew-Wood syndrome 24
Medium-chain acyl-coenzyme A dehydrogenase deficiency 24
Mental retardation, CASK-related, X-linked 24
Mental retardation, autosomal dominant 7 24
Multiple synostoses syndrome 2 24
Nephronophthisis 15 24
Noonan syndrome-like disorder with loose anagen hair 1 24
Pancreatic adenocarcinoma 24
Parkinson disease 6, autosomal recessive early-onset 24
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 24
Pendred syndrome 24
Primary familial polycythemia due to EPO receptor mutation 24
Pustular psoriasis, generalized 24
Pyruvate dehydrogenase complex deficiency 24
Robinow syndrome, autosomal recessive 24
Sarcoglycanopathy 24
Sphingolipid activator protein 1 deficiency 24
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 24
Stickler syndrome type 2 24
Surfactant metabolism dysfunction, pulmonary, 2 24
Triglyceride storage disease with ichthyosis 24
ANO5-Related Muscle Diseases 23
Arrhythmogenic right ventricular cardiomyopathy 23
Atypical hemolytic-uremic syndrome 4 23
Beta-D-mannosidosis 23
Chondrodysplasia with joint dislocations, GPAPP type 23
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 23
Congenital dyserythropoietic anemia, type I 23
Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 23
Dermatofibrosis lenticularis disseminata 23
EAST syndrome 23
Ectodermal dysplasia and immunodeficiency 2 23
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 23
Hemophagocytic lymphohistiocytosis, familial, 5 23
Hypomagnesemia 1, intestinal 23
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 23
Juvenile myoclonic epilepsy 23
Klippel-Feil syndrome 1, autosomal dominant 23
Leukodystrophy, adult-onset, autosomal dominant 23
Long QT syndrome 5 23
Lymphedema, primary, with myelodysplasia 23
Mucopolysaccharidosis, MPS-III-D 23
Noonan syndrome 9 23
Parietal foramina 1 23
Pneumothorax, primary spontaneous 23
Renal-hepatic-pancreatic dysplasia 1 23
Retinitis Pigmentosa, Recessive 23
Spondyloepiphyseal dysplasia congenita 23
Ventricular tachycardia, catecholaminergic polymorphic, 2 23
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 22
Anemia, hypochromic microcytic, with iron overload 1 22
Anophthalmia-microphthalmia syndrome 22
Autosomal dominant hypophosphatemic rickets 22
Autosomal recessive congenital ichthyosis 1 22
Cenani-Lenz syndactyly syndrome 22
Charcot-Marie-Tooth disease, type 1C 22
Charcot-Marie-Tooth disease, type 4B1 22
Combined oxidative phosphorylation deficiency 12 22
Congenital disorder of glycosylation type 1N 22
EGFR-related lung cancer 22
Ectopia lentis 2, isolated, autosomal recessive 22
Familial hemiplegic migraine type 3 22
Fanconi-Bickel syndrome 22
Frontotemporal dementia 22
Glycogen storage disease IXd 22
Glycogen storage disease due to hepatic glycogen synthase deficiency 22
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 22
Hypercholanemia, familial 22
Hyperekplexia 22
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 22
Hyperparathyroidism 2 22
Hyperphosphatemic familial tumoral calcinosis 3 22
Intellectual disability 22
Juvenile myoclonic epilepsy; Typical absence seizures 22
Long QT syndrome 1 22
Maturity-onset diabetes of the young type 7 22
Maturity-onset diabetes of the young, type 13 22
Maturity-onset diabetes of the young, type 2 22
Mucopolysaccharidosis, MPS-III-C 22
Nemaline myopathy 10 22
Parkinson disease 2 22
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 22
Peroxisome biogenesis disorder 5a (zellweger) 22
Primary autosomal recessive microcephaly 6 22
Pulmonary venoocclusive disease 2, autosomal recessive 22
Purine-nucleoside phosphorylase deficiency 22
Schimke immuno-osseous dysplasia 22
Seckel syndrome 4 22
Severe X-linked myotubular myopathy 22
Severe congenital neutropenia 2, autosomal dominant 22
Shprintzen-Goldberg syndrome 22
Stargardt disease 1 22
Syndromic intellectual disability 22
Torsion dystonia 6 22
46,XY sex reversal 9 21
Achromatopsia 3 21
Acquired porencephaly 21
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 21
Amelocerebrohypohidrotic syndrome 21
Asphyxiating thoracic dystrophy 4 21
Ataxia, spastic, 2, autosomal recessive 21
Atrial fibrillation, familial, 7 21
Benign Neonatal Epilepsy 21
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 21
Candidiasis, familial, 2 21
Cholestanol storage disease 21
Congenital disorder of glycosylation type 2i 21
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 21
Congenital stationary night blindness, autosomal dominant 1 21
Congenital stationary night blindness, autosomal dominant 3 21
Deafness, autosomal dominant 3a 21
Deafness, autosomal dominant 5 21
Deficiency of acetyl-CoA acetyltransferase 21
Duane-radial ray syndrome 21
Endometrial carcinoma 21
Endplate acetylcholinesterase deficiency 21
Epilepsy, progressive myoclonic 3 21
Familial benign pemphigus 21
GLUT1 deficiency syndrome 1, autosomal recessive 21
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 21
Glycogen storage disease, type VII 21
Hereditary acrodermatitis enteropathica 21
Hermansky-Pudlak syndrome 5 21
Hirschsprung disease 3 21
Hyperekplexia 1 21
Hyperglycinuria 21
Jervell and Lange-Nielsen syndrome 1 21
Kufor-Rakeb syndrome 21
Laron-type isolated somatotropin defect 21
Metaphyseal chondrodysplasia, Jansen type 21
Multiple congenital exostosis 21
Myosclerosis, autosomal recessive 21
Nance-Horan syndrome 21
Nephronophthisis 12 21
Nephronophthisis 16 21
Neuroblastoma 2 21
Neuronal ceroid lipofuscinosis 7 21
Neutropenia, severe congenital, 7, autosomal recessive 21
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 21
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 21
Peroxisome biogenesis disorder 12A 21
Primary autosomal recessive microcephaly 3 21
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 21
Retinitis pigmentosa 25 21
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 21
Spastic paraplegia 31, autosomal dominant 21
Tyrosinase-positive oculocutaneous albinism 21
Usher syndrome, type 2D 21
ALG12-congenital disorder of glycosylation 20
Alagille syndrome 1 20
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1; Paget disease of bone 2, early-onset 20
Amyotrophic lateral sclerosis type 11 20
Anterior segment dysgenesis 4 20
Aortic aneurysm, familial thoracic 8 20
Basal laminar drusen 20
Charcot-Marie-Tooth Neuropathy X 20
Chilblain lupus 2 20
Chromosome 2q32-q33 deletion syndrome 20
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 20
Ciliary dyskinesia, primary, 13 20
Cockayne syndrome 20
Combined oxidative phosphorylation deficiency 1 20
Cone dystrophy with supernormal rod response 20
Congenital bile acid synthesis defect 2 20
Deafness, autosomal recessive 1A 20
Deficiency of phosphoserine phosphatase 20
Desmosterolosis 20
Eichsfeld type congenital muscular dystrophy 20
Fanconi anemia, complementation group B 20
Fructosuria, essential 20
Gaze palsy, familial horizontal, with progressive scoliosis 1 20
Glycogen storage disease IXb 20
Glycogen storage disease, type VI 20
Hereditary angioedema type 3 20
Hereditary hyperinsulinism 20
Hereditary spastic paraplegia 7 20
Hereditary xanthinuria type 1 20
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 20
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 20
Junctional epidermolysis bullosa gravis of Herlitz 20
Larsen syndrome 20
Mental retardation, autosomal recessive 53 20
Methylcobalamin deficiency type cblG 20
Mucolipidosis type II; Pseudo-Hurler polydystrophy 20
Multiple acyl-CoA dehydrogenase deficiency 20
Myofibrillar myopathy 3 20
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 20
Myoglobinuria, acute recurrent, autosomal recessive 20
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 20
Neuronal ceroid lipofuscinosis 5 20
Neutral lipid storage myopathy 20
Nonepidermolytic palmoplantar keratoderma 20
Parkinson Disease, Dominant 20
Polycystic kidney disease 2 20
Primary Microcephaly, Recessive 20
Pseudo-Hurler polydystrophy 20
Retinitis pigmentosa 12; Leber congenital amaurosis 8 20
SEPN1-Related Disorders 20
Skeletal dysplasia 20
Spinocerebellar ataxia type 28 20
Transposition of the great arteries, dextro-looped 1 20
Usher syndrome, type 1C 20
Vitamin B12-responsive methylmalonic acidemia type cblA 20
Walker-Warburg congenital muscular dystrophy 20
X-linked severe combined immunodeficiency 20
Agammaglobulinemia 2, autosomal recessive 19
Alpha-1-antitrypsin deficiency 19
Aortic valve disease 2 19
Argininosuccinate lyase deficiency 19
Arrhythmogenic right ventricular cardiomyopathy, type 5 19
Biotinidase deficiency 19
Cataract 12, multiple types 19
Cerebral cavernous malformation 19
Coenzyme Q10 deficiency, primary, 4 19
Combined saposin deficiency 19
Common variable immunodeficiency 1 19
Congenital disorder of glycosylation, type Ia 19
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 19
Deafness, autosomal recessive 30 19
Dicarboxylic aminoaciduria 19
Dilated Cardiomyopathy, Recessive 19
Dilated cardiomyopathy 1J 19
Encephalopathy, familial, with neuroserpin inclusion bodies 19
Epilepsy, familial adult myoclonic, 5 19
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 19
Glycogen storage disease type IXa1 19
Glycogen storage disease, type IV 19
Hereditary fructosuria 19
Hermansky-Pudlak syndrome 3 19
Hyper-IgM syndrome type 2 19
I blood group system 19
Joubert syndrome 15 19
Joubert syndrome 24 19
Laryngo-onycho-cutaneous syndrome 19
Limb-girdle muscular dystrophy, type 2S 19
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 19
Lymphoproliferative syndrome 1 19
Maturity-onset diabetes of the young, type 3 19
Merosin deficient congenital muscular dystrophy 19
Microphthalmia, isolated 2 19
Myopathy, centronuclear, 2 19
Myostatin-related muscle hypertrophy 19
Nephrotic syndrome, type 5, with or without ocular abnormalities 19
Neuropathy, hereditary sensory and autonomic, type 1A 19
Oculodentodigital dysplasia 19
Osteomyelitis, sterile multifocal, with periostitis and pustulosis 19
Pierson syndrome 19
Primary familial hypertrophic cardiomyopathy 19
Primary hyperoxaluria, type I 19
Pyridoxal phosphate-responsive seizures 19
Retinitis pigmentosa-deafness syndrome 19
Revesz syndrome 19
Roberts-SC phocomelia syndrome 19
Short-rib thoracic dysplasia 8 with or without polydactyly 19
Spinocerebellar ataxia type 14 19
Spinocerebellar ataxia type 23 19
Stargardt Disease 3 19
Stickler Syndrome, Dominant 19
Townes syndrome 19
Trichohepatoenteric syndrome 2 19
Vitreoretinochoroidopathy 19
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 19
ALS2-Related Disorders 18
Acyl-CoA dehydrogenase family, member 9, deficiency of 18
Adrenocorticotropic hormone deficiency 18
Alpha-N-acetylgalactosaminidase deficiency type 1 18
Amelogenesis imperfecta 18
Ataxia-telangiectasia-like disorder 18
Bardet-Biedl syndrome 2 18
Bifunctional peroxisomal enzyme deficiency 18
Branchiootic syndrome 3 18
Brody myopathy 18
Capillary malformation-arteriovenous malformation 18
Carney complex, type 1 18
Charcot-Marie-Tooth disease, type 4B3 18
Charcot-Marie-Tooth disease, type 4D 18
Cone-rod dystrophy 13; Leber congenital amaurosis 6 18
Congenital dyserythropoietic anemia, type IV 18
Congenital stationary night blindness, type 2B 18
Craniofacial-deafness-hand syndrome 18
Deafness, autosomal dominant 1 18
Deafness, autosomal recessive 2 18
Diamond-Blackfan anemia 6 18
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 18
Dystonia 16 18
EEM syndrome 18
Early infantile epileptic encephalopathy 34 18
Epileptic encephalopathy, early infantile, 23 18
Fanconi anemia, complementation group C 18
Hereditary factor XI deficiency disease 18
Hereditary leiomyomatosis and renal cell cancer 18
Hereditary spastic paraplegia 10 18
Hyperekplexia 3 18
Infantile dystonia-parkinsonism 18
Infantile spasms 18
Joubert syndrome 3 18
Lafora disease 18
Left-right axis malformations 18
MASP2 deficiency 18
Mental retardation, autosomal recessive 5 18
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 18
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 18
Mosaic variegated aneuploidy syndrome 18
Multiple epiphyseal dysplasia type 4 18
Myoclonic dystonia 11 18
Myofibrillar Myopathy, Dominant 18
Primary ciliary dyskinesia 23 18
Renal tubular acidosis with progressive nerve deafness 18
Rett syndrome 18
Senior-Loken syndrome 6 18
Spastic paraplegia 35 18
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 18
Spondyloepiphyseal dysplasia tarda 18
Steinert myotonic dystrophy syndrome 18
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 18
Succinyl-CoA acetoacetate transferase deficiency 18
Syndactyly type 3 18
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 18
3-methylcrotonyl CoA carboxylase 2 deficiency 17
Adult polyglucosan body disease 17
Amyotrophic lateral sclerosis type 1 17
Amyotrophic lateral sclerosis type 2 17
Anemia, sideroblastic, 1 17
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 17
Autosomal recessive congenital ichthyosis 10 17
Bruck syndrome 2 17
COFS syndrome 17
Carnitine palmitoyltransferase II deficiency 17
Charcot-Marie-Tooth disease type 2B 17
Charcot-Marie-Tooth disease, axonal, type 2z 17
Chronic granulomatous disease, X-linked 17
Combined deficiency of factor V and factor VIII, 1 17
Combined malonic and methylmalonic aciduria 17
Common variable immunodeficiency 7 17
Congenital lactase deficiency 17
Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 17
Deficiency of iodide peroxidase 17
DiGeorge Syndrome 17
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 17
Early infantile epileptic encephalopathy 9 17
Ehlers-Danlos syndrome, type 7A 17
Epilepsy 17
Familial X-linked hypophosphatemic vitamin D refractory rickets 17
Familial hypertrophic cardiomyopathy 19 17
Fumarase deficiency 17
Hereditary spastic paraplegia 13 17
Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 17
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 17
Hypogonadotropic hypogonadism 7 with or without anosmia 17
Lathosterolosis 17
Lattice corneal dystrophy Type III 17
Leukocyte adhesion deficiency type II 17
Leukocyte adhesion deficiency, type III 17
Long QT syndrome 11 17
Macular dystrophy, patterned, 1 17
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 17
Metaphyseal anadysplasia 2 17
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 17
Mucopolysaccharidosis type 7 17
Multiple epiphyseal dysplasia 1 17
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 17
Myosin storage myopathy 17
Natural killer cell and glucocorticoid deficiency with DNA repair defect 17
Nemaline myopathy 8 17
Nephronophthisis 3 17
Nephronophthisis 7 17
Neuronal ceroid lipofuscinosis 1 17
Peroxisome biogenesis disorder 4a (zellweger) 17
Perrault syndrome 1 17
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 17
Premature ovarian failure 5 17
Rett syndrome, congenital variant 17
Somatotroph adenoma 17
Spinocerebellar ataxia type 5 17
Temtamy preaxial brachydactyly syndrome 17
Thyroid dyshormonogenesis 6 17
Warburg micro syndrome 1 17
Weaver syndrome 17
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 16
Alpha-N-acetylgalactosaminidase deficiency type 2 16
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 16
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Tremor, hereditary essential, 4 16
Autoimmune lymphoproliferative syndrome type 2B 16
Autoinflammation with infantile enterocolitis; Familial cold autoinflammatory syndrome 4 16
Autosomal recessive cerebellar ataxia 16
Autosomal recessive hypophosphatemic vitamin D refractory rickets 16
Baraitser-Winter syndrome 1 16
Bardet-Biedl syndrome 14 16
Bartter syndrome, type 1, antenatal 16
Carnitine palmitoyltransferase 1A deficiency 16
Cataract 4 16
Cataract-intellectual disability-hypogonadism syndrome 16
Charcot-Marie-Tooth disease, type 4J 16
Ciliary dyskinesia, primary, 14 16
Common variable immunodeficiency 10 16
Congenital disorder of glycosylation type 1Q 16
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 16
Cutis laxa, autosomal recessive IIIA 16
Deficiency of galactokinase 16
Dilated cardiomyopathy 1E 16
Distal hereditary motor neuronopathy type 2A 16
Distal hereditary motor neuronopathy type 2B 16
Dyskeratosis congenita, autosomal dominant, 3 16
Epilepsy, familial focal, with variable foci 3 16
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 16
Epileptic encephalopathy, early infantile, 33 16
FGFR2 related craniosynostosis 16
Familial hypercholesterolemia 4 16
Familial partial lipodystrophy 2 16
Fanconi anemia, complementation group E 16
Fanconi anemia, complementation group F 16
Fukuyama congenital muscular dystrophy 16
GTP cyclohydrolase I deficiency 16
Glycogen storage disease due to muscle beta-enolase deficiency 16
Glycogen storage disease of heart, lethal congenital 16
Hawkinsinuria 16
Hereditary sensory and autonomic neuropathy type IIA 16
Hyperphosphatasia with mental retardation syndrome 2 16
Joubert syndrome 25 16
Leber congenital amaurosis 12 16
Li-Fraumeni syndrome 16
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 16
Maturity onset diabetes mellitus in young 16
Miller syndrome 16
Multiple endocrine neoplasia, type 2a 16
Myasthenic syndrome, congenital, 4a, slow-channel 16
Myopathy, congenital, compton-north 16
Nonsyndromic hearing loss and deafness 16
Ornithine carbamoyltransferase deficiency 16
Peroxisome biogenesis disorder, complementation group K 16
Pontocerebellar hypoplasia type 2D 16
Potassium-aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome, acetazolamide-responsive 16
Primary autosomal recessive microcephaly 9 16
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 16
Primary hypomagnesemia 16
Renal hypodysplasia/aplasia 1 16
SLC35A2-CDG 16
Severe combined immunodeficiency due to ADA deficiency 16
Short stature due to growth hormone secretagogue receptor deficiency 16
Sucrase-isomaltase deficiency 16
Vitamin D-dependent rickets type II with alopecia 16
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 16
2-aminoadipic 2-oxoadipic aciduria 15
Age-related macular degeneration 5 15
Aicardi Goutieres syndrome 3 15
Alkaptonuria 15
Amyotrophic lateral sclerosis type 12 15
Aplastic anemia 15
Arrhythmogenic right ventricular dysplasia 8 15
Aspartylglucosaminuria 15
Atransferrinemia 15
Autosomal recessive congenital ichthyosis 3 15
Autosomal recessive osteopetrosis 1 15
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 15
Breast-ovarian cancer, familial 4 15
Cataract 15, multiple types 15
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 15
Cerebrooculofacioskeletal syndrome 1 15
Ceroid lipofuscinosis neuronal 2 15
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 15
Charcot-Marie-Tooth disease, recessive intermediate A 15
Ciliary dyskinesia, primary, 28 15
Cockayne syndrome B 15
Combined oxidative phosphorylation deficiency 27 15
Cone-Rod Dystrophy, Recessive 15
Cone-rod dystrophy 6; Leber congenital amaurosis 1 15
Congenital disorder of glycosylation type 1C 15
Congenital disorder of glycosylation type 1t 15
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 15
Deficiency of hyaluronoglucosaminidase 15
Deficiency of isobutyryl-CoA dehydrogenase 15
Familial hypertrophic cardiomyopathy 10 15
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 15
Geleophysic dysplasia 1 15
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 15
Hereditary melanoma 15
Holoprosencephaly 4 15
Hyperphosphatasemia with bone disease 15
Hyperuricemic nephropathy, familial juvenile, 2 15
Infantile cortical hyperostosis 15
Infantile-onset ascending hereditary spastic paralysis 15
Intellectual disability, X-linked 21 15
Joubert syndrome 21 15
Joubert syndrome 5 15
Leber congenital amaurosis 2; Retinitis pigmentosa 20 15
Left ventricular noncompaction 1 15
Li-Fraumeni syndrome 1 15
Long QT syndrome 2 15
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 15
Lysinuric protein intolerance 15
MYH-associated polyposis 15
McKusick-Kaufman syndrome 15
Methylmalonic acidemia 15
Methylmalonic acidemia with homocystinuria cblD 15
Mitochondrial DNA depletion syndrome 2 15
Mucolipidosis type IV 15
Multicentric carpo-tarsal osteolysis with or without nephropathy 15
Neonatal severe hyperparathyroidism 15
Obesity due to SIM1 deficiency 15
Osteogenesis imperfecta, type XI 15
Otospondylomegaepiphyseal dysplasia, autosomal dominant 15
Paget disease of bone 2, early-onset 15
Paroxysmal familial ventricular fibrillation 1 15
Peeling skin syndrome 2 15
Primary autosomal recessive microcephaly 7 15
Renal hypomagnesemia 2 15
Roussy-Lévy syndrome 15
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 15
Sitosterolemia 15
Spinocerebellar ataxia type 27 15
Thrombophilia due to protein S deficiency, autosomal recessive 15
Upshaw-Schulman syndrome 15
Vitelliform macular dystrophy type 2 15
Warburg micro syndrome 2 15
X-linked chondrodysplasia punctata 1 15
ZNF711-Related X-linked Mental Retardation 15
alpha Thalassemia 15
heterogeneous nuclear ribonucleoprotein G, human 15
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 14
Acute intermittent porphyria 14
Age-related macular degeneration 6 14
Alpha-methylacyl-CoA racemase deficiency 14
Amyloidogenic transthyretin amyloidosis 14
Arginine:glycine amidinotransferase deficiency 14
Arthrogryposis, renal dysfunction, and cholestasis 1 14
Ataxia-oculomotor apraxia type 1 14
Atrioventricular septal defect 5 14
Autosomal recessive congenital ichthyosis 6 14
Autosomal recessive cutis laxa type 1B 14
Autosomal recessive osteopetrosis 2 14
Autosomal recessive osteopetrosis 7 14
COG1 congenital disorder of glycosylation 14
Capillary malformation-arteriovenous malformation 1 14
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 14
Cerebral cavernous malformations 2 14
Cerebral palsy, spastic quadriplegic, 1 14
Charcot-Marie-Tooth disease, demyelinating, type 1f 14
Charcot-Marie-Tooth disease, type 2L 14
Chitotriosidase deficiency 14
Christianson syndrome 14
Combined oxidative phosphorylation deficiency 14 14
Combined oxidative phosphorylation deficiency 6 14
Cone-rod dystrophy 13 14
Congenital amegakaryocytic thrombocytopenia 14
Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 14
Congenital dyserythropoietic anemia, type II 14
Congenital nephrotic syndrome 14
Congenital plasminogen activator inhibitor type 1 deficiency 14
Congenital stationary night blindness, type 1D 14
Congenital stromal corneal dystrophy 14
Cutaneous malignant melanoma 3 14
Deficiency of aromatic-L-amino-acid decarboxylase 14
Deficiency of butyryl-CoA dehydrogenase 14
Dihydropteridine reductase deficiency 14
Dystonia 1 14
Epilepsy, progressive myoclonic 5 14
Epilepsy, progressive myoclonic, 10 14
Erythrocyte AMP deaminase deficiency 14
Facioscapulohumeral muscular dystrophy 2 14
Familial hyperinsulinism 14
Fatty liver disease, nonalcoholic 1 14
Glutaric aciduria, type 1 14
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 14
Greenberg dysplasia 14
Holoprosencephaly 3 14
Hyperthyroxinemia, familial dysalbuminemic 14
Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 14
Lethal tight skin contracture syndrome 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 14
Loeys-Dietz syndrome 3 14
Lymphoproliferative syndrome 1, X-linked 14
Lysosomal acid lipase deficiency 14
MPI-CDG 14
Megaconial type congenital muscular dystrophy 14
Molybdenum cofactor deficiency, complementation group B 14
Multiple congenital anomalies-hypotonia-seizures syndrome 1 14
Myopathy, centronuclear, 4 14
Neuronal ceroid lipofuscinosis 10 14
Non-syndromic syndactyly 14
Osteochondrodysplasia 14
Phosphoglycerate dehydrogenase deficiency 14
Retinal macular dystrophy type 2 14
Rhabdoid tumor predisposition syndrome 1 14
Salla disease 14
Schwannomatosis 1 14
Sjögren-Larsson syndrome 14
Spondylocostal dysostosis 1, autosomal recessive 14
TNF receptor-associated periodic fever syndrome (TRAPS) 14
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 14
UMOD-Associated Kidney Disease 14
Wolcott-Rallison dysplasia 14
ZAP70-Related Severe Combined Immunodeficiency 14
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 13
46,XY sex reversal, type 3 13
Acrodysostosis 1 with or without hormone resistance 13
Amyotrophic lateral sclerosis type 9 13
Atrial septal defect 7 with or without atrioventricular conduction defects 13
Bardet-Biedl syndrome 10 13
Brown-Vialetto-Van Laere syndrome 1 13
Cataract, autosomal recessive congenital 4 13
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 13
Cholestasis, intrahepatic, of pregnancy 3 13
Cockayne syndrome type A 13
Combined oxidative phosphorylation deficiency 17 13
Congenital disorder of glycosylation type 2B 13
Cortical malformations, occipital 13
Deafness, autosomal dominant 25 13
Deafness, autosomal dominant 36 13
Deafness, autosomal recessive 31 13
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 13
Deafness, autosomal recessive 8 13
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 13
Deficiency of beta-ureidopropionase 13
Dihydropyrimidinase deficiency 13
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 13
Dyskeratosis congenita, autosomal dominant, 2 13
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 13
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 13
Episodic ataxia 13
Exudative vitreoretinopathy 5 13
Fabry disease 13
Familial renal hypouricemia 13
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 13
Glucose-6-phosphate transport defect 13
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 13
Hereditary spastic paraplegia 13
Hutchinson-Gilford syndrome 13
Hyper-IgM syndrome type 1 13
Hyperammonemia, type III 13
Hyperimmunoglobulin D with periodic fever 13
Hypocalciuric hypercalcemia, familial, type 1 13
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 13
Hypomagnesemia 5, renal, with ocular involvement 13
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 13
Idiopathic nephrotic syndrome 13
Immunodeficiency 15 13
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 13
Joubert syndrome 7 13
Keutel syndrome 13
LEOPARD syndrome 3 13
Leber congenital amaurosis 3 13
Leydig cell hypoplasia, type 1 13
Lipodystrophy, congenital generalized, type 4 13
Marinesco-Sjögren syndrome 13
Melanoma, cutaneous malignant, susceptibility to, 10 13
Mevalonic aciduria 13
Mitochondrial complex II deficiency 13
Multiple epiphyseal dysplasia type 5 13
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 13
Neoplasm of ovary 13
Neuronal Ceroid-Lipofuscinosis, Recessive 13
Neuropathy, hereditary sensory and autonomic, type VI 13
Niemann-Pick disease, type A 13
Nijmegen breakage syndrome-like disorder 13
Oguchi disease 13
Ornithine aminotransferase deficiency 13
Osteogenesis imperfecta type 10 13
Osteogenesis imperfecta, type VI 13
Osteogenesis imperfecta, type xiii 13
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 13
Pontocerebellar hypoplasia type 6 13
Porphobilinogen synthase deficiency 13
Primary amenorrhea 13
Primary hyperoxaluria, type II 13
Primary hyperoxaluria, type III 13
Progressive familial intrahepatic cholestasis 3 13
Progressive myoclonus epilepsy with ataxia 13
Proline dehydrogenase deficiency 13
Pyruvate dehydrogenase E1-beta deficiency 13
Rhizomelic chondrodysplasia punctata type 2 13
Sandhoff disease 13
Severe myoclonic epilepsy in infancy 13
Slowed nerve conduction velocity, autosomal dominant 13
Spastic paraplegia 28, autosomal recessive 13
Spondylocostal dysostosis 2, autosomal recessive 13
Surfactant metabolism dysfunction, pulmonary, 4 13
Visceral heterotaxy 5, autosomal 13
X-linked agammaglobulinemia with growth hormone deficiency 13
Xeroderma pigmentosum, complementation group b 13
3MC syndrome 1 12
5-Oxoprolinase deficiency 12
ALG1-CDG 12
Acrodysostosis 12
Acromesomelic dysplasia, Hunter-Thompson type 12
Adams-Oliver syndrome 2 12
Age-related macular degeneration 3 12
Aicardi Goutieres syndrome 4 12
Aicardi Goutieres syndrome 5 12
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 12
Androgen resistance syndrome; Kennedy disease 12
Atrial fibrillation, familial, 9 12
Autoimmune interstitial lung, joint, and kidney disease 12
Bardet-Biedl syndrome 6 12
Bartter disease type 4a 12
COG7 congenital disorder of glycosylation 12
Charcot-Marie-Tooth disease axonal type 2F 12
Charcot-Marie-Tooth disease dominant intermediate d 12
Charcot-Marie-Tooth disease type 2E 12
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 12
Ciliary dyskinesia, primary, 33 12
Ciliary dyskinesia, primary, 6 12
Combined deficiency of sialidase AND beta galactosidase 12
Congenital disorder of glycosylation type 2H 12
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 12
Congenital generalized lipodystrophy type 1 12
Congenital secretory diarrhea, chloride type 12
Cowden syndrome 6 12
Cranioectodermal dysplasia 4 12
Deafness, autosomal recessive 37 12
Dental anomalies and short stature 12
Diamond-Blackfan anemia 3 12
Diamond-Blackfan anemia; gene sequencing 12
Digital clubbing, isolated congenital 12
Distal arthrogryposis type 1A 12
Factor XIII, A subunit, deficiency of 12
Fibular hypoplasia and complex brachydactyly 12
Fructose-biphosphatase deficiency 12
GNE myopathy 12
Geroderma osteodysplastica 12
Grebe syndrome 12
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 12
Hepatic lipase deficiency 12
Hereditary sensory and autonomic neuropathy type IIB 12
Hereditary sensory neuropathy type IF 12
Hirschsprung disease 4 12
Hydatidiform mole, recurrent, 1 12
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 12
Hyperphosphatemic familial tumoral calcinosis 1 12
Hypertrichotic osteochondrodysplasia Cantu type 12
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 12
Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 12
Infantile nystagmus, X-linked 12
Inflammatory bowel disease 1 12
Inflammatory skin and bowel disease, neonatal 1 12
Isolated coronal synostosis 12
Joubert syndrome 14 12
Joubert syndrome 9 12
Lissencephaly, Recessive 12
Long QT syndrome 12 12
Meckel syndrome type 8 12
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 12
Mental retardation 30, X-linked 12
Methylmalonic acidemia with homocystinuria, type cblJ 12
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 12
Microphthalmia with brain and digit anomalies 12
Myasthenic syndrome, congenital, 22 12
Myasthenic syndrome, congenital, 2a, slow-channel 12
Myofibrillar myopathy 1 12
Nephronophthisis 8 12
Nephrotic syndrome, type 4 12
Newfoundland rod-cone dystrophy 12
Paget disease of bone 3 12
Paroxysmal non-kinesigenic dyskinesia 12
Pena-Shokeir syndrome type I 12
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease 12
Peroxisome biogenesis disorder 3A 12
Peroxisome biogenesis disorder 6A 12
Progressive familial heart block, type 1A 12
Prolidase deficiency 12
Proteasome-associated autoinflammatory syndrome 1 12
Spinocerebellar ataxia type 19/22 12
Surfactant metabolism dysfunction, pulmonary, 1 12
Transient Neonatal Diabetes, Recessive 12
3 Methylcrotonyl-CoA carboxylase 1 deficiency 11
ALG8-CDG 11
Acid-labile subunit deficiency 11
Acute myeloid leukemia 11
Amelogenesis Imperfecta, Recessive 11
Amyotrophic lateral sclerosis type 10 11
Angelman syndrome 11
Asphyxiating thoracic dystrophy 5 11
Atypical hemolytic-uremic syndrome 2 11
Autoimmune lymphoproliferative syndrome, type III 11
Autosomal recessive congenital ichthyosis 5 11
Bardet-Biedl syndrome 4 11
Benign hereditary chorea 11
Breast carcinoma 11
Candidiasis, familial, 6 11
Cataract 1 11
Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 11
Ceroid lipofuscinosis, neuronal, 13 11
Charcot-Marie-Tooth disease type 2B1 11
Ciliary dyskinesia, primary, 10 11
Ciliary dyskinesia, primary, 27 11
Ciliary dyskinesia, primary, 30 11