| 8q24.3 microdeletion syndrome | 1 | Apr 6, 2018 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 4 | Jul 14, 2023 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Jul 3, 2019 |
| Aarskog syndrome | 2 | Apr 1, 2022 |
| Adrenoleukodystrophy | 1 | Jul 14, 2023 |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 1 | Jan 11, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 2 | Jul 14, 2023 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Oct 8, 2019 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 3 | Mar 15, 2024 |
| Alport syndrome | 1 | Apr 10, 2017 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Jul 2, 2018 |
| Alzheimer disease 3 | 1 | Jul 3, 2019 |
| Amyotrophic lateral sclerosis type 4 | 2 | Jul 14, 2023 |
| Andersen Tawil syndrome | 11 | Apr 1, 2022 |
| Angelman syndrome | 3 | Mar 15, 2024 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Jan 23, 2023 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Jul 14, 2023 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Oct 6, 2017 |
| Arthrogryposis, distal, type 2B3 | 1 | Dec 30, 2021 |
| Asphyxiating thoracic dystrophy 3 | 2 | Jul 3, 2019 |
| Atrial septal defect 3 | 1 | Jul 3, 2019 |
| Autism | 5 | Dec 30, 2021 |
| Autism spectrum disorder due to AUTS2 deficiency | 4 | Jan 23, 2023 |
| Autism, susceptibility to, 17 | 3 | Jul 14, 2023 |
| Autism, susceptibility to, 5 | 2 | Jan 11, 2024 |
| Autism, susceptibility to, X-linked 2 | 1 | Dec 30, 2021 |
| Autism, susceptibility to, X-linked 4 | 1 | Apr 10, 2017 |
| Autosomal dominant Alport syndrome | 6 | Jan 11, 2024 |
| Autosomal dominant Parkinson disease 8 | 1 | Jul 14, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Sep 28, 2018 |
| Autosomal dominant non-syndromic intellectual disability | 1 | Jul 14, 2023 |
| Autosomal dominant nonsyndromic hearing loss 13 | 2 | Jul 1, 2020 |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 | Oct 1, 2020 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Apr 6, 2018 |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 | Sep 12, 2023 |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 | Apr 1, 2021 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Oct 8, 2019 |
| Autosomal recessive Alport syndrome | 4 | Jan 11, 2024 |
| Autosomal recessive ataxia, Beauce type | 1 | Jan 22, 2018 |
| Autosomal recessive nonsyndromic hearing loss 12 | 3 | Apr 1, 2022 |
| Autosomal recessive nonsyndromic hearing loss 16 | 2 | Jul 1, 2020 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Oct 1, 2020 |
| Autosomal recessive nonsyndromic hearing loss 3 | 4 | Jan 11, 2024 |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 | Jul 1, 2020 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Jul 1, 2020 |
| Autosomal recessive polycystic kidney disease | 2 | Oct 8, 2019 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Jul 14, 2023 |
| Baraitser-Winter syndrome 1 | 2 | Jan 22, 2018 |
| Bardet-Biedl syndrome 1 | 1 | Apr 17, 2020 |
| Bardet-Biedl syndrome 17 | 1 | Jul 14, 2023 |
| Beck-Fahrner syndrome | 1 | Mar 15, 2024 |
| Benign familial hematuria | 4 | Oct 1, 2021 |
| Beta-D-mannosidosis | 1 | Jan 23, 2023 |
| Bethlem myopathy 2 | 1 | Jul 14, 2023 |
| Birt-Hogg-Dube syndrome | 1 | Jul 8, 2021 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Jan 23, 2023 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Jan 23, 2023 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Jan 23, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Mar 15, 2024 |
| Brain-lung-thyroid syndrome | 1 | Apr 4, 2019 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Jan 11, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Jan 11, 2024 |
| Brugada syndrome | 6 | Jul 3, 2019 |
| Brugada syndrome 1 | 28 | Apr 1, 2022 |
| Brugada syndrome 2 | 1 | Jul 2, 2018 |
| Brugada syndrome 3 | 1 | Jul 2, 2018 |
| Brugada syndrome 4 | 1 | Apr 17, 2020 |
| Brugada syndrome 8 | 3 | Jul 3, 2019 |
| Brugada syndrome 9 | 1 | Jul 2, 2018 |
| Brunet-Wagner neurodevelopmental syndrome | 1 | Jan 11, 2024 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | Jul 14, 2023 |
| CBL-related disorder | 2 | Jul 14, 2023 |
| CDK8-kinase module-associated disorder | 1 | Sep 28, 2018 |
| CHARGE association | 2 | Sep 28, 2018 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Jan 23, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 4 | Sep 12, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Jul 2, 2018 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Jan 23, 2023 |
| Cardiac valvular dysplasia, X-linked | 1 | Jan 23, 2023 |
| Cardiac-urogenital syndrome | 1 | Apr 1, 2022 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Jul 14, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 33 | Apr 1, 2022 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 3 | Apr 10, 2017 |
| Caused by mutation in the tafazzin gene | 1 | Dec 22, 2016 |
| Central core myopathy | 1 | Oct 6, 2017 |
| Cerebellar ataxia | 7 | Dec 30, 2021 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Jan 23, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Apr 17, 2020 |
| Charcot-Marie-Tooth disease axonal type 2T | 1 | Oct 8, 2019 |
| Charcot-Marie-Tooth disease axonal type 2U | 1 | Jan 23, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Jan 23, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Jan 11, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Jan 11, 2024 |
| Charcot-Marie-Tooth disease type 2D | 1 | Oct 8, 2019 |
| Charcot-Marie-Tooth disease type 2E | 1 | Jan 23, 2023 |
| Charcot-Marie-Tooth disease type 2J | 1 | Sep 12, 2023 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Jan 23, 2023 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Jul 14, 2023 |
| Choroideremia | 2 | Dec 30, 2021 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Jul 14, 2023 |
| Clark-Baraitser syndrome | 2 | Sep 12, 2023 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 | Jul 14, 2023 |
| Clubfoot | 1 | Jul 14, 2023 |
| Coffin-Siris syndrome 1 | 3 | Apr 1, 2022 |
| Coffin-Siris syndrome 8 | 3 | Jul 14, 2023 |
| Cognitive impairment with or without cerebellar ataxia | 7 | Jul 14, 2023 |
| Cohen-Gibson syndrome | 1 | Oct 1, 2020 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Jul 8, 2021 |
| Combined oxidative phosphorylation deficiency 32 | 2 | Apr 1, 2022 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Oct 1, 2020 |
| Complex neurodevelopmental disorder | 3 | Sep 12, 2023 |
| Congenital anomalies of kidney and urinary tract 1 | 1 | Oct 1, 2021 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Sep 28, 2018 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 1 | Apr 10, 2017 |
| Congenital contractural arachnodactyly | 1 | Jan 23, 2023 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Apr 6, 2018 |
| Congenital factor V deficiency | 1 | Jan 11, 2024 |
| Congenital factor VII deficiency | 4 | Apr 1, 2022 |
| Congenital myotonia, autosomal dominant form | 1 | Oct 8, 2019 |
| Congenital myotonia, autosomal recessive form | 1 | Oct 1, 2021 |
| Congenital prothrombin deficiency | 1 | Jan 11, 2024 |
| Cornelia de Lange syndrome 1 | 3 | Mar 15, 2024 |
| Cornelia de Lange syndrome 5 | 2 | Mar 6, 2020 |
| Coxopodopatellar syndrome | 2 | Jan 23, 2023 |
| Cutis laxa, autosomal dominant 3 | 1 | Jul 14, 2023 |
| Cystic fibrosis | 2 | Apr 4, 2019 |
| D-2-hydroxyglutaric aciduria 1 | 1 | Jul 14, 2023 |
| DYRK1A-related intellectual disability syndrome | 1 | Jul 3, 2019 |
| De Lange syndrome | 2 | Jan 23, 2023 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Jul 14, 2023 |
| Deafness | 1 | Jul 3, 2017 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Jan 23, 2023 |
| Deficiency of alpha-mannosidase | 1 | Jan 23, 2023 |
| Delpire-McNeill syndrome | 1 | Sep 12, 2023 |
| Developmental and epileptic encephalopathy 94 | 3 | Jan 11, 2024 |
| Developmental and epileptic encephalopathy 99 | 1 | Apr 1, 2022 |
| Developmental and epileptic encephalopathy, 11 | 4 | Oct 1, 2020 |
| Developmental and epileptic encephalopathy, 13 | 2 | Apr 1, 2021 |
| Developmental and epileptic encephalopathy, 27 | 2 | Jul 8, 2021 |
| Developmental and epileptic encephalopathy, 29 | 2 | Jul 14, 2023 |
| Developmental and epileptic encephalopathy, 31 | 2 | Jul 14, 2023 |
| Developmental and epileptic encephalopathy, 4 | 2 | Mar 15, 2024 |
| Developmental and epileptic encephalopathy, 41 | 1 | Oct 1, 2020 |
| Developmental and epileptic encephalopathy, 42 | 3 | Jan 11, 2024 |
| Developmental and epileptic encephalopathy, 44 | 1 | Jul 14, 2023 |
| Developmental and epileptic encephalopathy, 5 | 2 | Apr 4, 2019 |
| Developmental and epileptic encephalopathy, 65 | 1 | Apr 1, 2022 |
| Developmental and epileptic encephalopathy, 7 | 5 | Jan 23, 2023 |
| Developmental and epileptic encephalopathy, 9 | 3 | Jul 3, 2019 |
| Developmental delay with autism spectrum disorder and gait instability | 2 | Dec 30, 2021 |
| Developmental delay with or without dysmorphic facies and autism | 2 | Jul 14, 2023 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 2 | Jul 14, 2023 |
| Diabetes insipidus, nephrogenic, X-linked | 2 | Jan 11, 2024 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Jul 14, 2023 |
| Dilated cardiomyopathy 1A | 2 | Jan 22, 2018 |
| Dilated cardiomyopathy 1AA | 2 | Jul 14, 2023 |
| Dilated cardiomyopathy 1DD | 3 | Apr 1, 2022 |
| Dilated cardiomyopathy 1G | 13 | Jan 23, 2023 |
| Dilated cardiomyopathy 1HH | 2 | Oct 8, 2019 |
| Dilated cardiomyopathy 1I | 1 | Jul 14, 2023 |
| Dilated cardiomyopathy 1S | 1 | Jul 14, 2023 |
| Distal arthrogryposis | 1 | Jan 5, 2021 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 | Jul 14, 2023 |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 | Jul 14, 2023 |
| Encephalopathy due to GLUT1 deficiency | 1 | Sep 28, 2018 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Oct 8, 2019 |
| Epilepsy, childhood absence, susceptibility to, 6 | 1 | Oct 6, 2017 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Sep 28, 2018 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Dec 19, 2018 |
| Epilepsy, familial focal, with variable foci 3 | 2 | Oct 1, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Sep 28, 2018 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 | Jul 14, 2023 |
| Episodic ataxia type 1 | 1 | Apr 10, 2017 |
| Episodic ataxia type 2 | 5 | Jan 11, 2024 |
| FG syndrome 4 | 1 | Dec 30, 2021 |
| FRAXE | 1 | Jul 14, 2023 |
| Fabry disease | 1 | Jan 11, 2024 |
| Factor XIII, A subunit, deficiency of | 1 | Jan 11, 2024 |
| Familial adenomatous polyposis 1 | 3 | Jan 11, 2024 |
| Familial adenomatous polyposis 3 | 1 | Jul 8, 2021 |
| Familial hypocalciuric hypercalcemia 1 | 1 | Jul 14, 2023 |
| Familial hypokalemia-hypomagnesemia | 3 | Dec 30, 2021 |
| Familial temporal lobe epilepsy 7 | 1 | Jul 2, 2018 |
| Febrile seizures, familial, 4 | 3 | Sep 28, 2018 |
| Focal dermal hypoplasia | 1 | Oct 1, 2021 |
| Focal segmental glomerulosclerosis | 1 | Dec 30, 2021 |
| Focal segmental glomerulosclerosis 2 | 2 | Jan 11, 2024 |
| Focal segmental glomerulosclerosis 7 | 1 | Jan 11, 2024 |
| Frontotemporal dementia | 1 | Jul 14, 2023 |
| Galloway-Mowat syndrome 2, X-linked | 1 | Jul 14, 2023 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Jan 23, 2023 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Dec 19, 2018 |
| Gillespie syndrome | 2 | Mar 15, 2024 |
| Global developmental delay | 2 | Apr 1, 2022 |
| Global developmental delay with or without impaired intellectual development | 1 | Jan 23, 2023 |
| Glomerulopathy with fibronectin deposits 2 | 1 | Apr 1, 2022 |
| Glutaric aciduria, type 1 | 1 | Jan 23, 2023 |
| Glycogen storage disease IXa1 | 1 | Mar 15, 2024 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Jul 14, 2023 |
| Greig cephalopolysyndactyly syndrome | 1 | Apr 17, 2020 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Apr 1, 2022 |
| Hearing impairment | 9 | Apr 1, 2022 |
| Hereditary antithrombin deficiency | 9 | Jan 11, 2024 |
| Hereditary factor IX deficiency disease | 4 | Jan 11, 2024 |
| Hereditary factor VIII deficiency disease | 6 | Jan 11, 2024 |
| Hereditary spastic paraplegia 26 | 1 | Mar 15, 2024 |
| Hereditary spastic paraplegia 30 | 1 | Oct 1, 2020 |
| Hereditary spastic paraplegia 4 | 1 | Jan 23, 2023 |
| Hereditary spherocytosis type 2 | 1 | Apr 6, 2018 |
| Hereditary spherocytosis type 4 | 1 | Apr 6, 2018 |
| Heterotaxy, visceral, 1, X-linked | 1 | Nov 17, 2016 |
| Hogue-Janssens syndrome 1 | 1 | Jul 8, 2021 |
| Holoprosencephaly 3 | 1 | Sep 12, 2023 |
| Holoprosencephaly 9 | 1 | Sep 12, 2023 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 | Jul 14, 2023 |
| Hypercalcemia, infantile, 1 | 1 | Jul 14, 2023 |
| Hyperparathyroidism 4 | 2 | Jan 23, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Jan 23, 2023 |
| Hypertrophic cardiomyopathy 1 | 2 | Jul 2, 2018 |
| Hypertrophic cardiomyopathy 10 | 1 | Dec 22, 2016 |
| Hypertrophic cardiomyopathy 14 | 2 | Jan 22, 2018 |
| Hypertrophic cardiomyopathy 26 | 1 | Jul 14, 2023 |
| Hypertrophic cardiomyopathy 4 | 3 | Apr 4, 2019 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Mar 15, 2024 |
| Hypokalemic periodic paralysis, type 1 | 1 | Jul 14, 2023 |
| Hypotonia | 1 | Dec 30, 2021 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Jul 2, 2018 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 1 | Mar 15, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Jan 23, 2023 |
| Intellectual developmental disorder 61 | 2 | Sep 12, 2023 |
| Intellectual developmental disorder with autism and macrocephaly | 5 | Jan 11, 2024 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 2 | Jan 23, 2023 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Jul 14, 2023 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Jan 11, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Dec 19, 2018 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 | Jul 14, 2023 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 1 | Dec 30, 2021 |
| Intellectual developmental disorder with seizures and language delay | 1 | Jan 11, 2024 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Mar 15, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 2 | Sep 12, 2023 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Jan 23, 2023 |
| Intellectual developmental disorder, autosomal dominant 72 | 1 | Mar 15, 2024 |
| Intellectual developmental disorder, autosomal recessive 70 | 1 | Mar 15, 2024 |
| Intellectual developmental disorder, autosomal recessive 71 | 2 | Apr 1, 2022 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Jan 23, 2023 |
| Intellectual disability | 6 | Apr 1, 2021 |
| Intellectual disability and myopathy syndrome | 1 | Jan 23, 2023 |
| Intellectual disability, FRA12A type | 1 | Dec 30, 2021 |
| Intellectual disability, X-linked 1 | 1 | Oct 1, 2020 |
| Intellectual disability, X-linked 100 | 1 | Jul 14, 2023 |
| Intellectual disability, X-linked 102 | 6 | Mar 15, 2024 |
| Intellectual disability, X-linked 103 | 1 | Jan 23, 2023 |
| Intellectual disability, X-linked 106 | 1 | Jan 23, 2023 |
| Intellectual disability, X-linked 63 | 1 | Jan 23, 2023 |
| Intellectual disability, X-linked 9 | 1 | Apr 10, 2017 |
| Intellectual disability, X-linked 93 | 2 | Jan 11, 2024 |
| Intellectual disability, X-linked 97 | 1 | Dec 30, 2021 |
| Intellectual disability, X-linked 99 | 1 | Jul 14, 2023 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Dec 30, 2021 |
| Intellectual disability, autosomal dominant 1 | 1 | Jul 2, 2018 |
| Intellectual disability, autosomal dominant 13 | 4 | Jan 11, 2024 |
| Intellectual disability, autosomal dominant 20 | 1 | Jul 8, 2021 |
| Intellectual disability, autosomal dominant 22 | 1 | Jan 5, 2021 |
| Intellectual disability, autosomal dominant 24 | 1 | Apr 10, 2017 |
| Intellectual disability, autosomal dominant 27 | 1 | Jan 11, 2024 |
| Intellectual disability, autosomal dominant 29 | 1 | Dec 30, 2021 |
| Intellectual disability, autosomal dominant 30 | 1 | Dec 30, 2021 |
| Intellectual disability, autosomal dominant 33 | 1 | Jan 23, 2023 |
| Intellectual disability, autosomal dominant 39 | 1 | Apr 1, 2022 |
| Intellectual disability, autosomal dominant 41 | 1 | Dec 30, 2021 |
| Intellectual disability, autosomal dominant 43 | 2 | Jan 23, 2023 |
| Intellectual disability, autosomal dominant 46 | 1 | Oct 1, 2020 |
| Intellectual disability, autosomal dominant 47 | 1 | Jan 5, 2021 |
| Intellectual disability, autosomal dominant 5 | 1 | Mar 6, 2020 |
| Intellectual disability, autosomal dominant 50 | 2 | Jan 23, 2023 |
| Intellectual disability, autosomal dominant 51 | 1 | Jan 11, 2024 |
| Intellectual disability, autosomal dominant 52 | 1 | Jan 11, 2024 |
| Intellectual disability, autosomal dominant 56 | 3 | Jul 14, 2023 |
| Intellectual disability, autosomal dominant 6 | 4 | Apr 1, 2022 |
| Intellectual disability, autosomal dominant 9 | 2 | Jul 3, 2019 |
| Intellectual disability, autosomal recessive 27 | 1 | Jan 11, 2024 |
| Intellectual disability, autosomal recessive 53 | 1 | Sep 28, 2018 |
| Intellectual disability, autosomal recessive 58 | 2 | Jul 14, 2023 |
| Intellectual disability, autosomal recessive 65 | 1 | Jan 23, 2023 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 6 | Jul 14, 2023 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Jul 14, 2023 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Jan 23, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 3 | Jul 14, 2023 |
| Interstitial lung disease due to ABCA3 deficiency | 6 | Apr 1, 2022 |
| Joubert syndrome 10 | 1 | Oct 1, 2021 |
| Joubert syndrome 17 | 2 | Apr 1, 2022 |
| Joubert syndrome 5 | 1 | Jul 3, 2017 |
| Joubert syndrome 7 | 1 | Jan 23, 2023 |
| Joubert syndrome 9 | 2 | Jan 23, 2023 |
| KBG syndrome | 5 | Jan 23, 2023 |
| KCNH1-related phenotype | 1 | Jul 2, 2018 |
| Kabuki syndrome 1 | 3 | Jan 11, 2024 |
| Kabuki syndrome 2 | 2 | Jan 23, 2023 |
| Kleefstra syndrome 1 | 3 | Jul 14, 2023 |
| Kleefstra syndrome 2 | 1 | Jan 23, 2023 |
| Lacrimoauriculodentodigital syndrome 2 | 1 | Jul 14, 2023 |
| Lamb-Shaffer syndrome | 1 | Oct 1, 2020 |
| Landau-Kleffner syndrome | 2 | Jan 23, 2023 |
| Larsen syndrome | 1 | Jul 14, 2023 |
| Lessel-Kreienkamp syndrome | 1 | Jan 23, 2023 |
| Lethal congenital contracture syndrome 2 | 1 | Jan 23, 2023 |
| Lissencephaly due to TUBA1A mutation | 1 | Jan 23, 2023 |
| Loeys-Dietz syndrome 2 | 1 | Jan 11, 2024 |
| Long QT syndrome | 1 | Dec 22, 2016 |
| Long QT syndrome 1 | 52 | Feb 19, 2024 |
| Long QT syndrome 10 | 3 | Jul 3, 2019 |
| Long QT syndrome 11 | 2 | Jul 3, 2019 |
| Long QT syndrome 12 | 4 | Jul 2, 2018 |
| Long QT syndrome 13 | 2 | Mar 6, 2020 |
| Long QT syndrome 15 | 1 | Jul 3, 2017 |
| Long QT syndrome 2 | 50 | Apr 1, 2022 |
| Long QT syndrome 3 | 26 | Jan 23, 2023 |
| Long QT syndrome 5 | 4 | Apr 1, 2022 |
| Long QT syndrome 6 | 3 | Jul 3, 2019 |
| Long QT syndrome 9 | 2 | Mar 6, 2020 |
| Long qt syndrome 8 | 1 | Oct 1, 2020 |
| Lung cancer | 1 | Jul 14, 2023 |
| Luscan-Lumish syndrome | 2 | Jul 14, 2023 |
| Lynch syndrome 4 | 1 | Jul 8, 2021 |
| Lynch syndrome 5 | 2 | Jan 11, 2024 |
| MYO16-associated developmental delay | 1 | Dec 19, 2018 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Jul 14, 2023 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 2 | Jan 23, 2023 |
| Macrocephaly-autism syndrome | 1 | Jul 2, 2018 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 | Jan 11, 2024 |
| Malan overgrowth syndrome | 1 | Jan 23, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Jan 23, 2023 |
| Marfan syndrome | 1 | Jan 23, 2023 |
| Marshall syndrome | 1 | Jan 22, 2018 |
| Marshall-Smith syndrome | 1 | Jan 11, 2024 |
| Maturity-onset diabetes of the young type 11 | 1 | Sep 12, 2023 |
| Meckel syndrome, type 10 | 1 | Oct 8, 2019 |
| Meckel syndrome, type 3 | 1 | Apr 17, 2020 |
| Meckel syndrome, type 4 | 1 | Apr 17, 2020 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Dec 19, 2018 |
| Menkes kinky-hair syndrome | 1 | Dec 30, 2021 |
| Merosin deficient congenital muscular dystrophy | 1 | Apr 6, 2018 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Dec 30, 2021 |
| Microcephaly | 1 | Apr 4, 2019 |
| Microcephaly 3, primary, autosomal recessive | 1 | Oct 6, 2017 |
| Microcephaly 5, primary, autosomal recessive | 1 | Jan 5, 2021 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Mar 15, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Dec 30, 2021 |
| Migraine, familial hemiplegic, 2 | 1 | Dec 19, 2018 |
| Mirror movements 1 | 1 | Jan 23, 2023 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | Jan 23, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 2 | Sep 12, 2023 |
| Mitochondrial complex I deficiency, nuclear type 39 | 1 | Jul 14, 2023 |
| Mowat-Wilson syndrome | 3 | Jul 1, 2020 |
| Mullegama-Klein-Martinez syndrome | 1 | Jan 11, 2024 |
| Multiple endocrine neoplasia, type 1 | 2 | Jan 23, 2023 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Jan 23, 2023 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 2 | Apr 1, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 1 | Apr 6, 2018 |
| Myasthenic syndrome, congenital, 25, presynaptic | 1 | Sep 12, 2023 |
| Myoclonic-astatic epilepsy | 2 | Jan 23, 2023 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Dec 30, 2021 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Sep 28, 2018 |
| Nephrotic syndrome, type 3 | 1 | Jan 11, 2024 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Oct 1, 2021 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Sep 12, 2023 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 1 | Jan 23, 2023 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Jul 14, 2023 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Jan 23, 2023 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 2 | Sep 12, 2023 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Jan 23, 2023 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Jan 23, 2023 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Jan 11, 2024 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 1 | Jul 3, 2017 |
| Non-syndromic X-linked intellectual disability | 1 | Jan 23, 2023 |
| Noonan syndrome 1 | 1 | Sep 12, 2023 |
| Noonan syndrome 10 | 3 | Jan 23, 2023 |
| Noonan syndrome 2 | 1 | Jan 23, 2023 |
| Noonan syndrome 9 | 2 | Jan 22, 2018 |
| Noonan-like disorder | 1 | Mar 15, 2024 |
| Oculodentodigital dysplasia | 1 | Dec 30, 2021 |
| Oculofaciocardiodental syndrome | 1 | Jan 23, 2023 |
| Okur-Chung neurodevelopmental syndrome | 2 | Jan 23, 2023 |
| Ornithine carbamoyltransferase deficiency | 2 | Jan 11, 2024 |
| Orofaciodigital syndrome I | 1 | Apr 6, 2018 |
| Osteogenesis imperfecta type I | 2 | Apr 10, 2017 |
| Osteogenesis imperfecta type III | 4 | Jul 14, 2023 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Jan 22, 2018 |
| Osteoporosis, childhood- or juvenile-onset, with developmental delay | 1 | Jul 14, 2023 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Jan 23, 2023 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Jul 2, 2018 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | Mar 15, 2024 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Jul 14, 2023 |
| Paramyotonia congenita of Von Eulenburg | 1 | Jan 22, 2018 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2 | Jan 23, 2023 |
| Phelan-McDermid syndrome | 2 | Mar 15, 2024 |
| Pitt-Hopkins syndrome | 3 | Jan 23, 2023 |
| Pitt-Hopkins-like syndrome 2 | 2 | Apr 6, 2018 |
| Platelet-type bleeding disorder 10 | 1 | Sep 12, 2023 |
| Polycystic kidney disease 2 | 6 | Jan 11, 2024 |
| Polycystic kidney disease 4 | 1 | Apr 1, 2021 |
| Polycystic kidney disease, adult type | 59 | Mar 15, 2024 |
| Polycystic liver disease 1 | 1 | Apr 1, 2021 |
| Polycystic liver disease 2 | 1 | Apr 1, 2021 |
| Polycystic liver disease 3 with or without kidney cysts | 1 | Jan 11, 2024 |
| Pontocerebellar hypoplasia type 2B | 2 | Jul 14, 2023 |
| Porencephaly 2 | 3 | Sep 12, 2023 |
| Primary ciliary dyskinesia 10 | 1 | Jan 11, 2024 |
| Primary ciliary dyskinesia 11 | 1 | Dec 30, 2021 |
| Primary ciliary dyskinesia 7 | 2 | Apr 1, 2021 |
| Primary hyperoxaluria, type I | 1 | Dec 30, 2021 |
| Prolonged QT interval | 2 | Apr 17, 2020 |
| Pulmonary arterial hypertension | 1 | Apr 1, 2022 |
| Pulmonary hypertension, primary, 1 | 2 | Dec 30, 2021 |
| Pulmonary hypertension, primary, 2 | 1 | Dec 30, 2021 |
| RASopathy | 2 | Jul 2, 2018 |
| Rafiq syndrome | 1 | Jan 23, 2023 |
| Renal cysts and diabetes syndrome | 1 | Jan 23, 2023 |
| Renal dysplasia, cystic, susceptibility to | 1 | Apr 1, 2021 |
| Renal tubular dysgenesis of genetic origin | 2 | Dec 30, 2021 |
| Retinitis pigmentosa 25 | 1 | Jul 3, 2019 |
| Retinitis pigmentosa 3 | 1 | Jan 11, 2024 |
| Retinitis pigmentosa 37 | 1 | Dec 30, 2021 |
| Retinitis pigmentosa 38 | 2 | Dec 30, 2021 |
| Retinitis pigmentosa 39 | 1 | Jul 14, 2023 |
| Retinitis pigmentosa 40 | 1 | Jan 11, 2024 |
| Retinitis pigmentosa 42 | 1 | Apr 1, 2022 |
| Rett syndrome | 2 | Jul 1, 2020 |
| Rett syndrome, congenital variant | 1 | Oct 1, 2020 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 8 | Jan 11, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2 | Jan 5, 2021 |
| SLC35A2-congenital disorder of glycosylation | 2 | Mar 15, 2024 |
| Saldino-Mainzer syndrome | 1 | Oct 1, 2021 |
| Schwartz-Jampel syndrome type 1 | 1 | Jul 14, 2023 |
| Seckel syndrome 2 | 1 | Jan 23, 2023 |
| See cases | 3 | Sep 14, 2023 |
| Seizure | 1 | Dec 30, 2021 |
| Seizures, benign familial neonatal, 1 | 1 | Jan 22, 2018 |
| Sensorineural hearing loss disorder | 1 | Jan 23, 2023 |
| Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | 1 | Apr 1, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 3 | Jul 14, 2023 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | Apr 4, 2019 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 3 | Oct 1, 2020 |
| Severe myoclonic epilepsy in infancy | 2 | Jan 5, 2021 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Mar 15, 2024 |
| Shashi-Pena syndrome | 1 | Jan 23, 2023 |
| Short QT syndrome | 2 | Jul 3, 2019 |
| Short QT syndrome type 2 | 1 | Sep 28, 2018 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Jan 23, 2023 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Jul 14, 2023 |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 1 | Mar 6, 2020 |
| Simpson-Golabi-Behmel syndrome type 2 | 1 | Oct 1, 2021 |
| Smith-Magenis syndrome | 1 | Dec 30, 2021 |
| Snijders Blok-Campeau syndrome | 1 | Jan 23, 2023 |
| Sotos syndrome | 5 | Sep 12, 2023 |
| Spinocerebellar ataxia 27A | 1 | Mar 15, 2024 |
| Spinocerebellar ataxia type 14 | 1 | Apr 1, 2022 |
| Spondylo-ocular syndrome | 1 | Mar 15, 2024 |
| Stankiewicz-Isidor syndrome | 1 | Jan 23, 2023 |
| Stickler syndrome type 1 | 1 | Jan 22, 2018 |
| Structural heart defects and renal anomalies syndrome | 2 | Jan 23, 2023 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Jan 23, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Apr 17, 2020 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Apr 1, 2021 |
| Surfactant metabolism dysfunction, pulmonary, 5 | 2 | Apr 1, 2021 |
| Syndromic X-linked intellectual disability 14 | 1 | Jan 23, 2023 |
| Syndromic X-linked intellectual disability 94 | 1 | Jan 23, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 | Apr 1, 2022 |
| TCF12-related craniosynostosis | 1 | Jul 3, 2019 |
| TP63-Related Spectrum Disorders | 1 | Jan 23, 2023 |
| Tatton-Brown-Rahman overgrowth syndrome | 2 | Dec 30, 2021 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Jan 11, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 6 | Jan 11, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 5 | 1 | Apr 1, 2021 |
| Tetralogy of Fallot | 1 | Jul 14, 2023 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 15 | Jan 11, 2024 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 13 | Jan 11, 2024 |
| Thyrotoxic periodic paralysis, susceptibility to, 2 | 1 | Jul 3, 2017 |
| Timothy syndrome | 17 | Mar 6, 2020 |
| Usher syndrome type 1D | 1 | Jan 23, 2023 |
| Usher syndrome type 2A | 4 | Oct 1, 2020 |
| Vasculitis due to ADA2 deficiency | 1 | Mar 15, 2024 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 1 | Apr 1, 2022 |
| Vesicoureteral reflux 3 | 1 | Jan 11, 2024 |
| Waardenburg syndrome type 2E | 1 | Jul 14, 2023 |
| Weiss-kruszka syndrome | 1 | Jan 23, 2023 |
| Wiedemann-Steiner syndrome | 6 | Jan 11, 2024 |
| X-linked Alport syndrome | 11 | Jan 11, 2024 |
| X-linked distal spinal muscular atrophy type 3 | 1 | Jan 23, 2023 |
| X-linked intellectual disability Cabezas type | 1 | Jan 11, 2024 |
| X-linked intellectual disability, Stocco dos Santos type | 1 | Dec 30, 2021 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Jan 23, 2023 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Jul 2, 2018 |
| ZTTK syndrome | 1 | Jan 23, 2023 |
| Zimmermann-Laband syndrome 2 | 1 | Jan 11, 2024 |
| von Willebrand disease type 1 | 3 | Jul 14, 2023 |
| von Willebrand disease type 2 | 2 | Dec 30, 2021 |
