3-Methylglutaconic aciduria type 2 | 2 | Jan 28, 2024 |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | Mar 6, 2023 |
Acrocephalosyndactyly type I | 1 | Apr 1, 2019 |
Acute intermittent porphyria | 1 | Nov 14, 2019 |
Acute myeloid leukemia | 6 | Jan 28, 2024 |
Adams-Oliver syndrome 1 | 1 | Jul 25, 2023 |
Adams-Oliver syndrome 6 | 1 | Jul 25, 2023 |
Adrenoleukodystrophy | 36 | Jul 25, 2023 |
Adult hypophosphatasia | 1 | Jun 3, 2021 |
Aicardi-Goutieres syndrome 1 | 1 | Jul 31, 2019 |
Aicardi-Goutieres syndrome 6 | 1 | Aug 4, 2020 |
Alagille syndrome due to a NOTCH2 point mutation | 2 | Sep 8, 2022 |
Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | May 4, 2021 |
Allan-Herndon-Dudley syndrome | 1 | Sep 8, 2022 |
Alstrom syndrome | 3 | Apr 2, 2021 |
Alternating hemiplegia of childhood 2 | 1 | Jun 3, 2021 |
Alveolar capillary dysplasia with pulmonary venous misalignment | 10 | Feb 3, 2021 |
Alzheimer disease 3 | 1 | May 28, 2020 |
Amyloidosis, primary localized cutaneous, 3 | 1 | Nov 3, 2020 |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 | Jan 28, 2024 |
Anterior segment dysgenesis 7 | 1 | Aug 4, 2020 |
Aortic valve disease 1 | 3 | Jan 28, 2024 |
Aplasia cutis congenita | 1 | Sep 13, 2021 |
Arrhythmogenic right ventricular dysplasia 11 | 1 | Jan 28, 2024 |
Arrhythmogenic right ventricular dysplasia 2 | 1 | Aug 4, 2020 |
Arrhythmogenic right ventricular dysplasia 8 | 1 | Oct 13, 2020 |
Arrhythmogenic right ventricular dysplasia 9 | 1 | Jul 31, 2019 |
Arthrogryposis, distal, type 2B3 | 1 | May 28, 2020 |
Asphyxiating thoracic dystrophy 3 | 4 | Sep 8, 2022 |
Ataxia-pancytopenia syndrome | 5 | Sep 8, 2022 |
Ataxia-telangiectasia syndrome | 2 | May 4, 2021 |
Atrial septal defect 3 | 1 | Mar 6, 2023 |
Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Apr 2, 2021 |
Atypical hemolytic-uremic syndrome with C3 anomaly | 3 | Jul 25, 2023 |
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 4 | Mar 6, 2023 |
Au-Kline syndrome | 1 | Sep 8, 2022 |
Autism spectrum disorder due to AUTS2 deficiency | 2 | Feb 3, 2021 |
Autism, susceptibility to, 17 | 1 | Mar 6, 2023 |
Autism, susceptibility to, X-linked 2 | 1 | Sep 8, 2022 |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Jan 28, 2024 |
Autoimmune interstitial lung disease-arthritis syndrome | 3 | Jan 28, 2024 |
Autosomal dominant Alport syndrome | 5 | Jan 28, 2024 |
Autosomal dominant Robinow syndrome 1 | 1 | Aug 4, 2020 |
Autosomal dominant centronuclear myopathy | 1 | Mar 5, 2019 |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Oct 13, 2020 |
Autosomal dominant hypocalcemia 1 | 1 | May 4, 2021 |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Apr 2, 2021 |
Autosomal dominant pseudohypoaldosteronism type 1 | 2 | Jul 25, 2023 |
Autosomal recessive Alport syndrome | 1 | Mar 6, 2023 |
Autosomal recessive ataxia, Beauce type | 2 | Nov 3, 2020 |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Aug 4, 2020 |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 | May 28, 2020 |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 | Sep 8, 2022 |
Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | Jun 3, 2021 |
Autosomal recessive nonsyndromic hearing loss 1A | 3 | May 15, 2023 |
Autosomal recessive nonsyndromic hearing loss 30 | 1 | May 28, 2020 |
Autosomal recessive nonsyndromic hearing loss 4 | 1 | Jul 25, 2023 |
Autosomal recessive nonsyndromic hearing loss 84B | 1 | May 15, 2023 |
Autosomal recessive polycystic kidney disease | 1 | May 28, 2020 |
Autosomal recessive pseudohypoaldosteronism type 1 | 6 | May 15, 2023 |
Autosomal recessive spinocerebellar ataxia 16 | 2 | May 15, 2023 |
Bardet-Biedl syndrome 15 | 2 | Oct 13, 2020 |
Bardet-Biedl syndrome 5 | 1 | May 28, 2020 |
Bartter disease type 2 | 2 | Oct 13, 2020 |
Benign familial hematuria | 1 | Jan 28, 2024 |
Benign hereditary chorea | 1 | Apr 1, 2019 |
Bernard-Soulier syndrome, type A2, autosomal dominant | 1 | Sep 8, 2022 |
Biotinidase deficiency | 2 | Jul 30, 2021 |
Birt-Hogg-Dube syndrome | 1 | Nov 14, 2019 |
Blau syndrome | 1 | Sep 8, 2022 |
Bleeding disorder, platelet-type, 21 | 1 | Dec 1, 2020 |
Brain malformations with or without urinary tract defects | 1 | Jan 28, 2024 |
Brain-lung-thyroid syndrome | 8 | Mar 6, 2023 |
Branchiootic syndrome 1 | 2 | Mar 6, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 4 | Jan 6, 2022 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 5 | Sep 8, 2022 |
Bronchiectasis with or without elevated sweat chloride 1 | 4 | Jul 25, 2023 |
Bronchiectasis with or without elevated sweat chloride 2 | 4 | Jul 25, 2023 |
Bronchiectasis with or without elevated sweat chloride 3 | 5 | Mar 6, 2023 |
Bruck syndrome 2 | 2 | Oct 13, 2020 |
Brugada syndrome 1 | 1 | May 28, 2020 |
CEBALID syndrome | 1 | Mar 6, 2023 |
CHARGE association | 2 | Mar 6, 2023 |
COACH syndrome 1 | 1 | May 28, 2020 |
Capillary malformation-arteriovenous malformation 1 | 4 | Jul 25, 2023 |
Capillary malformation-arteriovenous malformation 2 | 1 | Sep 8, 2022 |
Cardiac valvular defect, developmental | 1 | Sep 8, 2022 |
Cardiomyopathy, familial restrictive, 3 | 1 | May 28, 2020 |
Cardiospondylocarpofacial syndrome | 1 | Jan 14, 2021 |
Carney complex, type 1 | 1 | Jan 14, 2021 |
Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | Sep 8, 2022 |
Cataract 1 multiple types | 1 | Jan 28, 2024 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | May 28, 2020 |
Cerebroretinal microangiopathy with calcifications and cysts 1 | 6 | Jul 30, 2021 |
Charcot-Marie-Tooth disease type 4J | 1 | Aug 4, 2020 |
Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 | Apr 2, 2021 |
Childhood hypophosphatasia | 2 | Jan 14, 2021 |
Childhood onset GLUT1 deficiency syndrome 2 | 1 | Sep 2, 2020 |
Chédiak-Higashi syndrome | 3 | Sep 8, 2022 |
Ciliary dyskinesia, primary, 36, X-linked | 1 | Feb 3, 2021 |
Ciliary dyskinesia, primary, 37 | 6 | Jan 28, 2024 |
Ciliary dyskinesia, primary, 40 | 2 | May 15, 2023 |
Ciliary dyskinesia, primary, 43 | 1 | Mar 6, 2023 |
Colorectal cancer, hereditary nonpolyposis, type 2 | 3 | Jan 28, 2024 |
Combined immunodeficiency due to DOCK8 deficiency | 2 | Sep 8, 2022 |
Combined immunodeficiency due to LRBA deficiency | 2 | Jun 3, 2021 |
Combined oxidative phosphorylation defect type 23 | 2 | Aug 30, 2019 |
Complement component 6 deficiency | 1 | Sep 8, 2022 |
Complex cortical dysplasia with other brain malformations 6 | 1 | Mar 6, 2023 |
Cone-rod dystrophy 3 | 1 | May 4, 2021 |
Congenital anomalies of kidney and urinary tract 2 | 2 | Sep 8, 2022 |
Congenital anomalies of kidney and urinary tract 3 | 2 | Jan 14, 2021 |
Congenital heart defects, multiple types, 5 | 1 | Sep 2, 2020 |
Congenital heart defects, multiple types, 6 | 1 | Aug 4, 2020 |
Congenital microvillous atrophy | 1 | May 28, 2020 |
Congenital myasthenic syndrome 4A | 1 | Mar 6, 2020 |
Conotruncal heart malformations | 2 | Jan 28, 2024 |
Coxopodopatellar syndrome | 1 | May 15, 2023 |
Craniosynostosis 4 | 2 | Aug 4, 2020 |
Crouzon syndrome | 1 | Aug 4, 2020 |
Cystic fibrosis | 335 | Jan 28, 2024 |
DDX41-related hematologic malignancy predisposition syndrome | 3 | Sep 13, 2021 |
Delpire-McNeill syndrome | 1 | Sep 8, 2022 |
Dent disease type 1 | 1 | Mar 6, 2023 |
Dent disease type 2 | 1 | Jul 30, 2021 |
Dermatitis, atopic, 2 | 1 | Nov 3, 2020 |
Developmental and epileptic encephalopathy 94 | 1 | Nov 14, 2019 |
Developmental and epileptic encephalopathy, 4 | 1 | Mar 6, 2023 |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Mar 6, 2020 |
Diabetes insipidus, nephrogenic, X-linked | 1 | Oct 13, 2020 |
Diabetes mellitus, noninsulin-dependent, 1 | 1 | Sep 8, 2022 |
Diamond-Blackfan anemia 1 | 2 | Sep 2, 2020 |
Diamond-Blackfan anemia 10 | 1 | Aug 30, 2019 |
Diamond-Blackfan anemia 6 | 1 | Dec 1, 2020 |
Dilated cardiomyopathy 1A | 1 | May 28, 2020 |
Dilated cardiomyopathy 1D | 1 | May 28, 2020 |
Dilated cardiomyopathy 1DD | 1 | May 28, 2020 |
Donnai-Barrow syndrome | 1 | Feb 3, 2021 |
Drash syndrome | 1 | May 28, 2020 |
Dyskeratosis congenita, X-linked | 2 | Apr 1, 2019 |
Dyskeratosis congenita, autosomal dominant 2 | 11 | Jul 25, 2023 |
Dyskeratosis congenita, autosomal dominant 3 | 1 | Aug 4, 2020 |
Dyskeratosis congenita, autosomal dominant 6 | 3 | Sep 8, 2022 |
Dyskeratosis congenita, autosomal recessive 3 | 2 | Mar 5, 2019 |
Dyskeratosis congenita, autosomal recessive 5 | 1 | Jul 25, 2023 |
Dystonia 12 | 1 | Sep 8, 2022 |
Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | May 8, 2019 |
Ehlers-Danlos syndrome, classic type, 1 | 2 | Sep 8, 2022 |
Ehlers-Danlos syndrome, periodontal type 1 | 1 | May 4, 2021 |
Ehlers-Danlos syndrome, periodontal type 2 | 1 | Jul 30, 2021 |
Ehlers-Danlos syndrome, type 4 | 3 | Jul 25, 2023 |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Mar 6, 2020 |
Epilepsy, early-onset, with or without developmental delay | 1 | May 28, 2020 |
Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 | Oct 13, 2020 |
Epiphyseal dysplasia, multiple, 3 | 1 | Nov 3, 2020 |
Episodic ataxia type 2 | 1 | Oct 13, 2020 |
Erythrocytosis, familial, 3 | 1 | Apr 2, 2021 |
Erythrocytosis, familial, 4 | 1 | Jan 28, 2024 |
Exudative vitreoretinopathy 4 | 1 | May 15, 2023 |
Fabry disease | 1 | Jan 28, 2024 |
Familial Mediterranean fever | 2 | Mar 6, 2023 |
Familial Mediterranean fever, autosomal dominant | 1 | Mar 6, 2023 |
Familial adenomatous polyposis 1 | 1 | Nov 3, 2020 |
Familial adenomatous polyposis 2 | 1 | Jan 28, 2024 |
Familial adenomatous polyposis 4 | 1 | Aug 4, 2020 |
Familial amyloid neuropathy | 1 | Sep 8, 2022 |
Familial cancer of breast | 2 | Jan 6, 2022 |
Familial cold autoinflammatory syndrome 2 | 1 | Sep 8, 2022 |
Familial dysfibrinogenemia | 1 | Sep 8, 2022 |
Familial hemophagocytic lymphohistiocytosis 4 | 1 | Dec 5, 2019 |
Familial hypokalemia-hypomagnesemia | 2 | Jan 6, 2022 |
Familial juvenile hyperuricemic nephropathy type 1 | 1 | Feb 3, 2021 |
Familial juvenile hyperuricemic nephropathy type 2 | 1 | Mar 6, 2023 |
Familial medullary thyroid carcinoma | 1 | May 15, 2023 |
Familial pulmonary capillary hemangiomatosis | 1 | Mar 6, 2023 |
Familial renal glucosuria | 1 | Jan 14, 2021 |
Familial spontaneous pneumothorax | 2 | Jul 25, 2023 |
Familial visceral amyloidosis, Ostertag type | 2 | Mar 6, 2020 |
Fanconi anemia complementation group A | 4 | Sep 8, 2022 |
Fanconi anemia complementation group B | 1 | Jan 28, 2024 |
Fanconi anemia complementation group E | 1 | Sep 2, 2020 |
Fanconi anemia, complementation group W | 3 | Jul 30, 2021 |
Fanconi renotubular syndrome 2 | 1 | Nov 3, 2020 |
Fanconi renotubular syndrome 3 | 1 | Jan 6, 2022 |
Finnish congenital nephrotic syndrome | 1 | Sep 8, 2022 |
Focal segmental glomerulosclerosis 7 | 1 | Jan 6, 2022 |
Focal segmental glomerulosclerosis 8 | 1 | Aug 30, 2019 |
Focal segmental glomerulosclerosis 9 | 2 | Jan 28, 2024 |
Fraser syndrome 2 | 3 | Nov 3, 2020 |
Frasier syndrome | 1 | May 28, 2020 |
Freeman-Sheldon syndrome | 1 | May 28, 2020 |
Galloway-Mowat syndrome 1 | 1 | Mar 6, 2023 |
Gaucher disease type I | 3 | Sep 8, 2022 |
Gaucher disease type II | 1 | May 28, 2020 |
Gaucher disease type III | 1 | May 28, 2020 |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | May 28, 2020 |
Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 | Sep 8, 2022 |
Genitourinary and/or brain malformation syndrome | 3 | Oct 13, 2020 |
Glomerulopathy with fibronectin deposits 2 | 4 | Sep 8, 2022 |
Glycogen storage disease, type II | 2 | May 28, 2020 |
Gray platelet syndrome | 1 | Jul 30, 2021 |
Greig cephalopolysyndactyly syndrome | 1 | Jul 30, 2021 |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Jul 25, 2023 |
Hearing loss, autosomal dominant 34, with or without inflammation | 1 | Sep 8, 2022 |
Hearing loss, autosomal dominant 75 | 1 | May 28, 2020 |
Hereditary factor VIII deficiency disease | 1 | Sep 8, 2022 |
Hereditary factor XI deficiency disease | 1 | Sep 8, 2022 |
Hereditary spastic paraplegia 11 | 1 | Sep 8, 2022 |
Hereditary spherocytosis type 4 | 1 | Sep 8, 2022 |
Hermansky-Pudlak syndrome 1 | 3 | Jan 6, 2022 |
Hermansky-Pudlak syndrome 2 | 4 | May 8, 2019 |
Hermansky-Pudlak syndrome 4 | 5 | Jan 28, 2024 |
Heterotaxy, visceral, 8, autosomal | 2 | Jun 3, 2021 |
Hirschsprung disease, susceptibility to, 1 | 1 | Mar 6, 2023 |
Histiocytic medullary reticulosis | 1 | Sep 8, 2022 |
Holoprosencephaly 11 | 1 | Sep 8, 2022 |
Holoprosencephaly 9 | 1 | May 28, 2020 |
Hurler syndrome | 2 | May 28, 2020 |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Mar 6, 2023 |
Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 1 | Apr 2, 2021 |
Hypercholesterolemia, autosomal dominant, 3 | 1 | Jul 25, 2023 |
Hypercholesterolemia, autosomal dominant, type B | 1 | May 4, 2021 |
Hypercholesterolemia, familial, 1 | 1 | Jun 3, 2021 |
Hyperparathyroidism, transient neonatal | 1 | Mar 6, 2020 |
Hyperphosphatasemia with bone disease | 1 | Nov 14, 2019 |
Hypertrophic cardiomyopathy 1 | 3 | Mar 6, 2023 |
Hypertrophic cardiomyopathy 15 | 1 | Jan 6, 2022 |
Hypertrophic cardiomyopathy 2 | 1 | May 28, 2020 |
Hypokalemic periodic paralysis, type 1 | 3 | Jan 28, 2024 |
Hypoparathyroidism, deafness, renal disease syndrome | 1 | Aug 4, 2020 |
Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 | Jul 25, 2023 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Mar 6, 2023 |
Ichthyosis vulgaris | 3 | Oct 13, 2020 |
Idiopathic pulmonary arterial hypertension | 1 | Sep 13, 2021 |
Immunodeficiency, common variable, 10 | 1 | May 28, 2020 |
Immunodeficiency, common variable, 7 | 1 | Mar 6, 2020 |
Inflammatory bowel disease 13 | 1 | Sep 8, 2022 |
Inflammatory bowel disease 29 | 1 | Aug 4, 2020 |
Intellectual developmental disorder 61 | 1 | Feb 3, 2021 |
Intellectual developmental disorder with autism and macrocephaly | 1 | Mar 6, 2023 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Aug 4, 2020 |
Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Jul 30, 2021 |
Intellectual disability, X-linked 102 | 1 | May 4, 2021 |
Intellectual disability, X-linked 99 | 2 | Jul 25, 2023 |
Intellectual disability, X-linked, syndromic, 35 | 1 | Aug 4, 2020 |
Intellectual disability, X-linked, syndromic, Bain type | 1 | Sep 8, 2022 |
Intellectual disability, autosomal dominant 3 | 1 | Dec 5, 2019 |
Intellectual disability, autosomal dominant 47 | 2 | Jan 28, 2024 |
Intellectual disability, autosomal dominant 56 | 1 | Jan 28, 2024 |
Intellectual disability, autosomal recessive 27 | 1 | Sep 8, 2022 |
Intellectual disability, autosomal recessive 65 | 2 | Dec 5, 2019 |
Intellectual disability, autosomal recessive 66 | 2 | Aug 4, 2020 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Sep 8, 2022 |
Interstitial lung disease 1 | 1 | May 15, 2023 |
Interstitial lung disease 2 | 2 | Sep 8, 2022 |
Interstitial lung disease due to ABCA3 deficiency | 55 | Jan 28, 2024 |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 | Jan 6, 2022 |
Ischemic stroke | 1 | Aug 4, 2020 |
Isolated hyperchlorhidrosis | 1 | Nov 14, 2019 |
Joubert syndrome 10 | 1 | Mar 6, 2023 |
Joubert syndrome 17 | 2 | Nov 3, 2020 |
Joubert syndrome 23 | 3 | Jul 25, 2023 |
Joubert syndrome 24 | 1 | Jan 14, 2021 |
Joubert syndrome 33 | 2 | Feb 3, 2021 |
Joubert syndrome 9 | 1 | May 28, 2020 |
Joubert syndrome with renal defect | 1 | Oct 13, 2020 |
Junctional epidermolysis bullosa with pyloric atresia | 3 | Oct 13, 2020 |
Juvenile myelomonocytic leukemia | 1 | Sep 13, 2021 |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2 | Mar 6, 2023 |
KNOPS BLOOD GROUP SYSTEM | 1 | Sep 8, 2022 |
Kabuki syndrome 1 | 3 | May 28, 2020 |
Kartagener syndrome | 5 | Jan 28, 2024 |
Kleefstra syndrome 2 | 2 | Jan 28, 2024 |
Leber optic atrophy | 1 | Mar 6, 2023 |
Left ventricular noncompaction 1 | 1 | May 28, 2020 |
Leigh syndrome | 1 | Mar 6, 2023 |
Li-Fraumeni syndrome 1 | 2 | Sep 2, 2020 |
Liddle syndrome 1 | 4 | May 28, 2020 |
Liddle syndrome 2 | 1 | Mar 6, 2023 |
Lissencephaly due to TUBA1A mutation | 2 | Jan 6, 2022 |
Loeys-Dietz syndrome 2 | 1 | Jan 28, 2024 |
Long QT syndrome 1 | 3 | Jan 28, 2024 |
Lowe syndrome | 1 | Mar 6, 2023 |
Luscan-Lumish syndrome | 1 | Mar 6, 2023 |
Lynch syndrome 1 | 2 | Sep 8, 2022 |
Lynch syndrome 5 | 3 | Sep 8, 2022 |
MHC class I deficiency | 1 | Jun 3, 2021 |
MIRAGE syndrome | 1 | Oct 13, 2020 |
Macrocephaly-autism syndrome | 1 | May 8, 2019 |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 5 | Sep 8, 2022 |
Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Sep 13, 2021 |
Malan overgrowth syndrome | 1 | May 28, 2020 |
Malignant hyperthermia, susceptibility to, 1 | 1 | May 28, 2020 |
Marfan syndrome | 7 | Mar 6, 2023 |
Marshall-Smith syndrome | 1 | May 28, 2020 |
Meckel syndrome, type 6 | 1 | May 28, 2020 |
Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Apr 2, 2021 |
Metaphyseal chondrodysplasia, Schmid type | 1 | Aug 30, 2019 |
Microcephaly 16, primary, autosomal recessive | 1 | Mar 6, 2020 |
Microcephaly 5, primary, autosomal recessive | 3 | Jan 28, 2024 |
Mismatch repair cancer syndrome 1 | 1 | Mar 6, 2023 |
Mismatch repair cancer syndrome 2 | 2 | Mar 6, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 30 | 1 | Jul 31, 2019 |
Mitochondrial complex 1 deficiency, nuclear type 4 | 1 | Sep 8, 2022 |
Monocytopenia with susceptibility to infections | 3 | Jul 25, 2023 |
Monosomy 7 myelodysplasia and leukemia syndrome 2 | 2 | Jan 28, 2024 |
Mowat-Wilson syndrome | 1 | Jan 6, 2022 |
Mucopolysaccharidosis | 1 | Jan 28, 2024 |
Mucopolysaccharidosis, MPS-IV-B | 1 | Sep 8, 2022 |
Muenke syndrome | 1 | Sep 8, 2022 |
Mullerian aplasia and hyperandrogenism | 1 | Aug 4, 2020 |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 3 | Jan 28, 2024 |
Multiple endocrine neoplasia, type 1 | 1 | May 28, 2020 |
Multiple epiphyseal dysplasia type 5 | 1 | Apr 2, 2021 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2 | Sep 8, 2022 |
Myelodysplastic syndrome | 2 | Jan 28, 2024 |
Myhre syndrome | 1 | Sep 8, 2022 |
Myopathy, myofibrillar, 9, with early respiratory failure | 2 | Apr 2, 2021 |
NPHP3-related Meckel-like syndrome | 4 | Jan 28, 2024 |
Nail-patella syndrome | 1 | May 28, 2020 |
Nephronophthisis 12 | 1 | Jan 14, 2021 |
Nephronophthisis 15 | 2 | Sep 13, 2021 |
Nephropathic cystinosis | 1 | May 4, 2021 |
Nephrotic syndrome, type 2 | 2 | Apr 2, 2021 |
Nephrotic syndrome, type 4 | 1 | May 28, 2020 |
Neural tube defect | 1 | Sep 13, 2021 |
Neurodegeneration with brain iron accumulation 2B | 2 | May 28, 2020 |
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Jul 31, 2019 |
Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Jan 28, 2024 |
Neurofibromatosis, type 1 | 9 | Jan 28, 2024 |
Neuromuscular disease | 1 | Sep 8, 2022 |
Neutropenia, severe congenital, 1, autosomal dominant | 2 | Oct 13, 2020 |
Noonan syndrome 10 | 1 | Jul 25, 2023 |
Noonan syndrome 4 | 2 | Jun 3, 2021 |
Oculocutaneous albinism type 1B | 2 | Mar 6, 2023 |
Odonto-onycho-dermal dysplasia | 1 | May 15, 2023 |
Okur-Chung neurodevelopmental syndrome | 1 | May 28, 2020 |
Ornithine carbamoyltransferase deficiency | 1 | Mar 6, 2023 |
Osteogenesis imperfecta | 1 | Sep 8, 2022 |
Osteogenesis imperfecta type I | 2 | Aug 4, 2020 |
Osteogenesis imperfecta type III | 1 | May 28, 2020 |
Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Jul 30, 2021 |
Osteogenesis imperfecta, perinatal lethal | 1 | Nov 3, 2020 |
PMM2-congenital disorder of glycosylation | 3 | Jul 25, 2023 |
Paget disease of bone 6 | 2 | Aug 4, 2020 |
Pancytopenia due to IKZF1 mutations | 1 | Aug 4, 2020 |
Paragangliomas 4 | 1 | Jun 3, 2021 |
Peeling skin syndrome 6 | 1 | Mar 6, 2023 |
Pelger-Huët anomaly | 1 | Aug 30, 2019 |
Periventricular nodular heterotopia 9 | 1 | Sep 8, 2022 |
Peroxisome biogenesis disorder 1A (Zellweger) | 4 | Mar 6, 2023 |
Peroxisome biogenesis disorder 4A (Zellweger) | 6 | May 15, 2023 |
Pfeiffer syndrome | 1 | Aug 30, 2019 |
Phelan-McDermid syndrome | 1 | Feb 3, 2021 |
Phenylketonuria | 1 | Sep 8, 2022 |
Platelet-type bleeding disorder 15 | 1 | Sep 8, 2022 |
Platelet-type bleeding disorder 17 | 1 | Apr 2, 2021 |
Platelet-type bleeding disorder 20 | 3 | Sep 8, 2022 |
Polycystic kidney disease 2 | 2 | Mar 6, 2023 |
Polycystic kidney disease 3 with or without polycystic liver disease | 1 | Jul 30, 2021 |
Polycystic kidney disease 4 | 2 | Apr 2, 2021 |
Polycystic kidney disease, adult type | 11 | Mar 6, 2023 |
Polycystic liver disease 4 with or without kidney cysts | 3 | Jul 25, 2023 |
Polydactyly, postaxial, type a7 | 1 | Aug 4, 2020 |
Polyglandular autoimmune syndrome, type 1 | 1 | Sep 2, 2020 |
Porencephaly 2 | 1 | Aug 4, 2020 |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2 | Oct 13, 2020 |
Primary ciliary dyskinesia 11 | 1 | Sep 8, 2022 |
Primary ciliary dyskinesia 12 | 1 | Oct 13, 2020 |
Primary ciliary dyskinesia 13 | 4 | Mar 6, 2023 |
Primary ciliary dyskinesia 14 | 2 | Feb 3, 2021 |
Primary ciliary dyskinesia 15 | 5 | Sep 8, 2022 |
Primary ciliary dyskinesia 18 | 1 | Jan 28, 2024 |
Primary ciliary dyskinesia 2 | 1 | Jan 28, 2024 |
Primary ciliary dyskinesia 20 | 1 | Jul 31, 2019 |
Primary ciliary dyskinesia 21 | 1 | Mar 6, 2023 |
Primary ciliary dyskinesia 22 | 1 | May 15, 2023 |
Primary ciliary dyskinesia 24 | 2 | Mar 6, 2023 |
Primary ciliary dyskinesia 25 | 1 | Jun 3, 2021 |
Primary ciliary dyskinesia 26 | 1 | Jul 30, 2021 |
Primary ciliary dyskinesia 27 | 1 | Jan 6, 2022 |
Primary ciliary dyskinesia 3 | 21 | Jan 28, 2024 |
Primary ciliary dyskinesia 30 | 1 | Oct 13, 2020 |
Primary ciliary dyskinesia 34 | 2 | Sep 8, 2022 |
Primary ciliary dyskinesia 5 | 5 | Sep 8, 2022 |
Primary ciliary dyskinesia 7 | 13 | Jan 28, 2024 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | May 8, 2019 |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | May 28, 2020 |
Pseudo von Willebrand disease | 1 | Sep 13, 2021 |
Pseudohypoaldosteronism type 2B | 1 | Aug 30, 2019 |
Pseudohypoaldosteronism type 2C | 2 | Sep 8, 2022 |
Pseudohypoaldosteronism, type IB2, autosomal recessive | 1 | May 15, 2023 |
Pseudohypoparathyroidism | 8 | Oct 13, 2020 |
Pseudohypoparathyroidism type 1B | 1 | Jan 31, 2019 |
Pseudohypoparathyroidism type I A | 1 | Jul 25, 2023 |
Pseudopseudohypoparathyroidism | 3 | Sep 8, 2022 |
Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Mar 6, 2023 |
Pulmonary arterial hypertension | 1 | Jul 25, 2023 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 10 | May 15, 2023 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 2 | Nov 3, 2020 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 21 | Jan 28, 2024 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 5 | Mar 6, 2023 |
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 2 | Jan 28, 2024 |
Pulmonary hypertension, primary, 1 | 2 | Jul 25, 2023 |
Pulmonary hypertension, primary, 2 | 1 | Sep 8, 2022 |
Pulmonary hypertension, primary, 4 | 1 | Mar 6, 2023 |
Pulmonary hypertension, primary, autosomal recessive | 2 | Mar 6, 2023 |
Pulmonary venoocclusive disease 1 | 2 | Sep 8, 2022 |
Pyruvate kinase deficiency of red cells | 1 | Dec 5, 2019 |
Radial aplasia-thrombocytopenia syndrome | 2 | Jan 28, 2024 |
Renal coloboma syndrome | 2 | Sep 8, 2022 |
Renal dysplasia, cystic, susceptibility to | 3 | Mar 6, 2023 |
Renpenning syndrome | 1 | Mar 6, 2023 |
Respiratory distress associated with prematurity | 1 | Jul 31, 2019 |
Retinitis pigmentosa 23 | 1 | Mar 6, 2023 |
Retinoblastoma | 1 | Jul 30, 2021 |
Rett syndrome | 2 | Jan 28, 2024 |
Ritscher-Schinzel syndrome 2 | 1 | Sep 8, 2022 |
Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | Sep 8, 2022 |
STAT3-related early-onset multisystem autoimmune disease | 2 | Mar 6, 2023 |
STING-associated vasculopathy with onset in infancy | 3 | Mar 6, 2023 |
Saethre-Chotzen syndrome | 1 | May 28, 2020 |
Seizures, benign familial infantile, 3 | 1 | Dec 1, 2020 |
Severe X-linked myotubular myopathy | 1 | Sep 8, 2022 |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2 | May 28, 2020 |
Severe early-childhood-onset retinal dystrophy | 2 | May 28, 2020 |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 3 | Sep 13, 2021 |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Nov 14, 2019 |
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | Apr 2, 2021 |
Short-rib thoracic dysplasia 14 with polydactyly | 1 | May 28, 2020 |
Shwachman-Diamond syndrome 1 | 1 | Jan 28, 2024 |
Sickle cell-hemoglobin C disease | 2 | Mar 6, 2023 |
Sideroblastic anemia 2 | 2 | Sep 8, 2022 |
Sifrim-Hitz-Weiss syndrome | 1 | Jan 28, 2024 |
Simpson-Golabi-Behmel syndrome type 2 | 2 | Mar 6, 2023 |
Smith-Lemli-Opitz syndrome | 1 | May 28, 2020 |
Sotos syndrome | 2 | May 28, 2020 |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Dec 1, 2020 |
Specific language impairment 5 | 1 | May 4, 2021 |
Spermatogenic failure 46 | 5 | Sep 8, 2022 |
Spinocerebellar ataxia 45 | 1 | May 28, 2020 |
Spinocerebellar ataxia type 42 | 1 | Aug 4, 2020 |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 | May 15, 2023 |
Spondylocarpotarsal synostosis syndrome | 2 | Nov 3, 2020 |
Spondyloepiphyseal dysplasia congenita | 1 | Aug 4, 2020 |
Stickler syndrome type 1 | 2 | Jul 30, 2021 |
Stickler syndrome type 2 | 1 | Jan 14, 2021 |
Stickler syndrome, type 5 | 1 | Jun 3, 2021 |
Sulfite oxidase deficiency | 1 | Mar 6, 2020 |
Surfactant metabolism dysfunction, pulmonary, 1 | 8 | Sep 8, 2022 |
Surfactant metabolism dysfunction, pulmonary, 2 | 12 | Jul 25, 2023 |
Surfactant metabolism dysfunction, pulmonary, 4 | 3 | May 8, 2019 |
Surfactant metabolism dysfunction, pulmonary, 5 | 4 | Sep 8, 2022 |
Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Nov 14, 2019 |
Systemic lupus erythematosus | 1 | Sep 8, 2022 |
TWIST1-related craniosynostosis | 2 | May 15, 2023 |
Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Sep 8, 2022 |
Thanatophoric dysplasia type 1 | 2 | Jan 28, 2024 |
Thrombocythemia 1 | 2 | Mar 6, 2023 |
Thrombocythemia 3 | 1 | May 28, 2020 |
Thrombocytopenia | 1 | Sep 13, 2021 |
Thrombocytopenia 2 | 1 | Jul 30, 2021 |
Thrombocytopenia 5 | 1 | Jan 14, 2021 |
Tooth agenesis, selective, X-linked, 1 | 1 | Jan 28, 2024 |
Townes-Brocks syndrome 1 | 3 | Sep 8, 2022 |
Treacher Collins syndrome 1 | 6 | Sep 8, 2022 |
Trichohepatoenteric syndrome 2 | 2 | May 8, 2019 |
Tuberous sclerosis 1 | 1 | Jul 25, 2023 |
Tuberous sclerosis 2 | 7 | Mar 6, 2023 |
Tumor predisposition syndrome 3 | 1 | Sep 8, 2022 |
Tyrosinase-negative oculocutaneous albinism | 2 | Mar 6, 2023 |
Tyrosinase-positive oculocutaneous albinism | 3 | Sep 8, 2022 |
Usher syndrome type 1D | 2 | Jan 6, 2022 |
VEXAS syndrome | 1 | May 15, 2023 |
Vasculitis due to ADA2 deficiency | 4 | Sep 8, 2022 |
Vesicoureteral reflux 8 | 3 | Mar 6, 2023 |
Visceral myopathy 1 | 1 | Jan 14, 2021 |
Von Hippel-Lindau syndrome | 5 | Jan 6, 2022 |
Wilms tumor 1 | 1 | May 28, 2020 |
Wilson disease | 7 | Jul 25, 2023 |
X-linked Alport syndrome | 3 | Jan 28, 2024 |
X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Jul 30, 2021 |
X-linked recessive nephrolithiasis with renal failure | 1 | Mar 6, 2023 |
X-linked sideroblastic anemia 1 | 1 | Jan 28, 2024 |
Xeroderma pigmentosum, group D | 2 | Jun 3, 2021 |
not provided | 29 | Mar 6, 2023 |
von Willebrand disease type 1 | 2 | Jan 28, 2024 |
von Willebrand disease type 2 | 2 | Sep 2, 2020 |