| 11p partial monosomy syndrome | 1 | Apr 15, 2019 |
| 3-Methylglutaconic aciduria type 2 | 1 | Aug 16, 2023 |
| 8q24.3 microdeletion syndrome | 1 | May 20, 2022 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Feb 11, 2022 |
| Abnormal brain morphology | 1 | Jul 26, 2019 |
| Abnormal facial shape | 1 | Apr 4, 2019 |
| Abnormality of the outer ear | 1 | Oct 3, 2021 |
| Acyl-CoA oxidase deficiency | 1 | Mar 20, 2024 |
| Adrenoleukodystrophy | 1 | Sep 18, 2020 |
| Al Kaissi syndrome | 1 | Oct 13, 2021 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Jun 14, 2022 |
| Alexander disease | 1 | Apr 15, 2021 |
| Alternating hemiplegia of childhood 1 | 1 | Feb 14, 2023 |
| Amyotrophic lateral sclerosis type 23 | 1 | Sep 23, 2022 |
| Amyotrophic lateral sclerosis type 4 | 1 | Jan 5, 2022 |
| Anophthalmia | 3 | Jul 19, 2019 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Oct 13, 2021 |
| Aortic aneurysm, familial thoracic 7 | 1 | Nov 1, 2022 |
| Aortic valve disease 2 | 1 | Jan 12, 2021 |
| Aortic valve stenosis | 1 | Apr 30, 2020 |
| Arrhythmogenic right ventricular dysplasia 2 | 1 | Nov 1, 2022 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Dec 28, 2021 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 1 | Mar 26, 2024 |
| Ataxia-telangiectasia syndrome | 1 | Sep 2, 2022 |
| Atrial fibrillation, familial, 7 | 1 | Feb 26, 2021 |
| Attention deficit hyperactivity disorder | 1 | May 7, 2021 |
| Atypical Rett syndrome | 1 | Jan 14, 2022 |
| Au-Kline syndrome | 2 | Sep 8, 2021 |
| Autism | 2 | Mar 27, 2024 |
| Autism, susceptibility to, 5 | 2 | Jan 23, 2023 |
| Autism, susceptibility to, X-linked 2 | 1 | Jul 23, 2021 |
| Autistic behavior | 1 | Jul 19, 2019 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Dec 9, 2020 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | May 20, 2022 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Mar 15, 2021 |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Oct 6, 2021 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Oct 8, 2020 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Aug 26, 2021 |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 | Jan 18, 2023 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Mar 5, 2021 |
| Autosomal dominant nonsyndromic hearing loss 7 | 1 | Nov 10, 2022 |
| Autosomal dominant optic atrophy classic form | 1 | Jan 23, 2024 |
| Autosomal recessive ataxia, Beauce type | 1 | Jun 15, 2020 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Feb 10, 2021 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Sep 22, 2020 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Oct 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Nov 7, 2022 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Oct 29, 2020 |
| Autosomal recessive optic atrophy, OPA7 type | 1 | Jun 24, 2022 |
| Avascular necrosis of femoral head, primary, 1 | 1 | Mar 30, 2023 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Oct 29, 2021 |
| Baraitser-Winter syndrome 1 | 1 | May 20, 2022 |
| Bardet-Biedl syndrome 7 | 1 | Jul 17, 2023 |
| Basal cell nevus syndrome 1 | 1 | Mar 26, 2024 |
| Basal cell nevus syndrome 2 | 1 | May 5, 2023 |
| Bethlem myopathy 1A | 3 | Sep 6, 2023 |
| Blepharophimosis | 1 | Apr 4, 2019 |
| Bloom syndrome | 1 | Nov 8, 2019 |
| Bone mineral density quantitative trait locus 1 | 2 | Jan 26, 2022 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | Feb 8, 2024 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Mar 8, 2023 |
| Brain-lung-thyroid syndrome | 2 | Mar 21, 2022 |
| Branchiooculofacial syndrome | 1 | Oct 29, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | Feb 24, 2023 |
| Brooke-Spiegler syndrome | 1 | Nov 30, 2022 |
| Brugada syndrome 3 | 1 | Dec 18, 2020 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | Jan 31, 2023 |
| CBL-related disorder | 3 | May 20, 2022 |
| CEBALID syndrome | 1 | Mar 26, 2024 |
| CHARGE association | 6 | Oct 13, 2021 |
| CNTNAP5-associated intellectual disability | 1 | Oct 5, 2020 |
| Capillary malformation-arteriovenous malformation 2 | 1 | Jul 7, 2022 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Mar 22, 2019 |
| Cardiac valvular dysplasia, X-linked | 1 | Aug 27, 2021 |
| Cardiofaciocutaneous syndrome 1 | 1 | Jun 25, 2020 |
| Cardiofaciocutaneous syndrome 4 | 2 | Jun 28, 2018 |
| Carpal tunnel syndrome 2 | 1 | Jul 30, 2021 |
| Cataract 15 multiple types | 1 | Jul 13, 2022 |
| Cataract 3 multiple types | 1 | Aug 27, 2021 |
| Cenani-Lenz syndactyly syndrome | 1 | Jan 25, 2024 |
| Central core myopathy | 3 | Sep 6, 2023 |
| Cerebellar ataxia | 2 | Jun 30, 2020 |
| Cerebral amyloid angiopathy, APP-related | 1 | Oct 13, 2021 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Jul 3, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Mar 5, 2021 |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 | Jul 5, 2022 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Jan 13, 2020 |
| Charcot-Marie-Tooth disease axonal type 2O | 2 | Dec 9, 2020 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Jan 5, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Jun 29, 2023 |
| Charcot-Marie-Tooth disease type 1E | 1 | Aug 18, 2017 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Apr 1, 2021 |
| Charcot-Marie-Tooth disease type 4C | 2 | Jun 5, 2023 |
| Charcot-Marie-Tooth disease type 4H | 2 | Jan 23, 2023 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 1 | Mar 8, 2021 |
| Charcot-marie-tooth disease, axonal, type 2DD | 1 | Feb 1, 2021 |
| Choroideremia | 4 | Sep 1, 2022 |
| Chromosome 1p32-p31 deletion syndrome | 1 | Dec 23, 2019 |
| Coenzyme Q10 deficiency, primary, 1 | 1 | Mar 26, 2024 |
| Coffin-Siris syndrome 1 | 6 | Sep 28, 2023 |
| Coffin-Siris syndrome 11 | 1 | Jan 26, 2023 |
| Coffin-Siris syndrome 8 | 1 | Mar 27, 2024 |
| Cognitive impairment | 1 | Jul 19, 2019 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Jul 18, 2022 |
| Colorectal cancer, susceptibility to, 12 | 2 | Jun 3, 2022 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 | Jan 24, 2023 |
| Combined oxidative phosphorylation defect type 13 | 1 | Jan 22, 2024 |
| Combined oxidative phosphorylation deficiency 55 | 1 | Mar 27, 2024 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Mar 1, 2023 |
| Cone dystrophy with supernormal rod response | 1 | Mar 13, 2021 |
| Cone-rod dystrophy 2 | 1 | Mar 26, 2024 |
| Cone-rod dystrophy 9 | 1 | Oct 5, 2022 |
| Congenital heart defects and ectodermal dysplasia | 1 | Jun 9, 2022 |
| Congenital heart defects, multiple types, 7 | 1 | Mar 27, 2024 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 2 | Nov 18, 2022 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Sep 21, 2020 |
| Congenital myasthenic syndrome 13 | 1 | May 7, 2021 |
| Congenital myasthenic syndrome 5 | 1 | Mar 26, 2024 |
| Congenital stationary night blindness autosomal dominant 1 | 1 | Oct 4, 2022 |
| Cornelia de Lange syndrome 3 | 2 | Oct 30, 2020 |
| Cornelia de Lange syndrome 5 | 3 | Jan 13, 2022 |
| Creatine transporter deficiency | 1 | May 24, 2022 |
| DYRK1A-related intellectual disability syndrome | 1 | Apr 5, 2023 |
| De Lange syndrome | 1 | Jan 13, 2020 |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 | Apr 8, 2020 |
| Dejerine-Sottas disease | 2 | Aug 23, 2017 |
| Delayed speech and language development | 6 | Jul 19, 2019 |
| Developmental and epileptic encephalopathy 6B | 1 | Jan 24, 2022 |
| Developmental and epileptic encephalopathy 94 | 1 | May 20, 2022 |
| Developmental and epileptic encephalopathy 97 | 1 | Aug 23, 2023 |
| Developmental and epileptic encephalopathy, 11 | 2 | Mar 8, 2023 |
| Developmental and epileptic encephalopathy, 27 | 1 | May 20, 2022 |
| Developmental and epileptic encephalopathy, 42 | 1 | Sep 2, 2022 |
| Developmental and epileptic encephalopathy, 5 | 2 | Dec 23, 2019 |
| Developmental and epileptic encephalopathy, 67 | 2 | Apr 27, 2023 |
| Developmental and epileptic encephalopathy, 7 | 1 | May 13, 2022 |
| Developmental and epileptic encephalopathy, 72 | 1 | Jan 17, 2024 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Sep 8, 2021 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Mar 17, 2023 |
| Developmental delay with or without epilepsy | 1 | Nov 14, 2023 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Dec 21, 2022 |
| Dias-Logan syndrome | 2 | Aug 1, 2023 |
| Diets-Jongmans syndrome | 1 | Oct 7, 2022 |
| Dilated cardiomyopathy 1DD | 1 | Jun 25, 2020 |
| Dilated cardiomyopathy 1G | 1 | Jan 18, 2023 |
| Dilated cardiomyopathy 1HH | 1 | Aug 8, 2017 |
| Dilated cardiomyopathy 1Y | 1 | Jan 7, 2021 |
| Dystonia 25 | 1 | Feb 14, 2024 |
| Dystonia 9 | 1 | Feb 24, 2022 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Mar 3, 2021 |
| Ectodermal dysplasia 13, hair/tooth type | 1 | Feb 1, 2024 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Aug 31, 2022 |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 | Apr 21, 2023 |
| Ehlers-Danlos syndrome, type 4 | 2 | Jan 17, 2024 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | May 20, 2022 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Jun 28, 2023 |
| Epilepsy, familial focal, with variable foci 2 | 1 | May 20, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Apr 18, 2023 |
| Epileptic encephalopathy, infantile or early childhood, 2 | 1 | Nov 12, 2020 |
| Epileptic encephalopathy, infantile or early childhood, 3 | 2 | Sep 22, 2021 |
| Epiphyseal dysplasia, multiple, 6 | 1 | Feb 13, 2023 |
| Episodic ataxia type 1 | 1 | Aug 31, 2023 |
| Erythrokeratodermia variabilis et progressiva 2 | 1 | Jul 3, 2023 |
| Exostoses, multiple, type 1 | 1 | Jan 11, 2024 |
| FG syndrome 2 | 1 | Aug 18, 2023 |
| Familial adenomatous polyposis 1 | 2 | Sep 22, 2020 |
| Familial adenomatous polyposis 2 | 1 | Sep 2, 2022 |
| Familial cancer of breast | 6 | Aug 12, 2022 |
| Familial dysfibrinogenemia | 1 | Dec 25, 2020 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 2 | Apr 6, 2021 |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 | Jul 11, 2023 |
| Fanconi anemia complementation group D1 | 1 | Sep 23, 2022 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Sep 15, 2022 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 1 | Feb 9, 2024 |
| Furrowed tongue | 1 | Jul 14, 2021 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Sep 22, 2023 |
| Genitopatellar syndrome | 1 | Oct 10, 2023 |
| Gillespie syndrome | 1 | Sep 22, 2020 |
| Global developmental delay | 11 | Sep 19, 2022 |
| Global developmental delay with speech and behavioral abnormalities | 2 | Mar 26, 2024 |
| Glomerulopathy with fibronectin deposits 2 | 1 | Sep 9, 2022 |
| Glycogen storage disease type III | 1 | Mar 9, 2021 |
| Glycogen storage disease, type II | 1 | Aug 25, 2023 |
| Glycogen storage disease, type IV | 1 | Jan 23, 2021 |
| Gorlin syndrome | 1 | May 18, 2022 |
| Greig cephalopolysyndactyly syndrome | 2 | Jun 21, 2022 |
| Growth delay due to insulin-like growth factor I resistance | 1 | May 14, 2021 |
| Harel-Yoon syndrome | 1 | Dec 18, 2020 |
| Hearing loss, autosomal dominant 37 | 5 | Mar 19, 2024 |
| Hearing loss, autosomal dominant 73 | 1 | May 11, 2022 |
| Hearing loss, autosomal dominant 75 | 1 | Aug 16, 2023 |
| Hearing loss, autosomal dominant 78 | 1 | Mar 27, 2024 |
| Hearing loss, autosomal dominant 84 | 1 | Mar 27, 2024 |
| Hearing loss, autosomal dominant 85 | 1 | Apr 12, 2023 |
| Heart, malformation of | 1 | Oct 3, 2021 |
| Heimler syndrome 2 | 1 | Apr 9, 2019 |
| Hemangioma | 1 | Apr 4, 2019 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 | Sep 2, 2022 |
| Hereditary spastic paraplegia 10 | 1 | Jul 20, 2017 |
| Hereditary spastic paraplegia 15 | 1 | Jul 7, 2020 |
| Hereditary spastic paraplegia 30 | 1 | Jun 4, 2021 |
| Hereditary spastic paraplegia 35 | 2 | May 20, 2022 |
| Hereditary spastic paraplegia 4 | 3 | Jul 3, 2021 |
| Hereditary spastic paraplegia 50 | 2 | Jul 21, 2022 |
| Hereditary spastic paraplegia 5A | 1 | Jun 13, 2022 |
| Hereditary spastic paraplegia 6 | 1 | Jun 2, 2022 |
| Hereditary spastic paraplegia 7 | 2 | Oct 5, 2020 |
| Hereditary spastic paraplegia 73 | 2 | Sep 10, 2021 |
| Holoprosencephaly 13, X-linked | 1 | Dec 3, 2021 |
| Houge-Janssens syndrome 2 | 1 | Jan 23, 2023 |
| Hutchinson-Gilford syndrome | 1 | Nov 1, 2021 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Jul 26, 2022 |
| Hypergonadotropic hypogonadism | 1 | Jul 19, 2019 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Mar 13, 2021 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Aug 12, 2021 |
| Hypertrophic cardiomyopathy | 1 | Feb 2, 2022 |
| Hypertrophic cardiomyopathy 14 | 1 | May 20, 2022 |
| Hypertrophic cardiomyopathy 26 | 1 | Mar 18, 2024 |
| Hypertrophic cardiomyopathy 3 | 1 | Sep 18, 2020 |
| Hypertrophic cardiomyopathy 4 | 1 | May 4, 2017 |
| Hypochondroplasia | 1 | May 20, 2022 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Jul 3, 2023 |
| Hypoplastic left heart syndrome | 1 | Jun 30, 2020 |
| Hypotonia | 3 | Apr 30, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Jun 22, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Aug 8, 2023 |
| Intellectual developmental disorder 60 with seizures | 1 | Sep 22, 2021 |
| Intellectual developmental disorder 61 | 1 | Jan 15, 2021 |
| Intellectual developmental disorder with autism and macrocephaly | 2 | Jul 15, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Jan 23, 2023 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | May 20, 2022 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Jan 18, 2024 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | May 3, 2023 |
| Intellectual developmental disorder, autosomal dominant 66 | 1 | Dec 2, 2022 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 | Dec 7, 2023 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Dec 14, 2020 |
| Intellectual disability | 22 | Oct 7, 2020 |
| Intellectual disability, X-linked 105 | 1 | Jan 11, 2024 |
| Intellectual disability, X-linked 49 | 1 | May 23, 2022 |
| Intellectual disability, X-linked 96 | 1 | Feb 9, 2022 |
| Intellectual disability, X-linked 99 | 1 | Sep 5, 2022 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Mar 26, 2024 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Apr 29, 2022 |
| Intellectual disability, autosomal dominant 13 | 2 | Sep 5, 2022 |
| Intellectual disability, autosomal dominant 34 | 1 | Sep 26, 2022 |
| Intellectual disability, autosomal dominant 39 | 1 | Sep 1, 2020 |
| Intellectual disability, autosomal dominant 46 | 3 | Mar 26, 2024 |
| Intellectual disability, autosomal dominant 47 | 2 | May 20, 2022 |
| Intellectual disability, autosomal dominant 51 | 1 | Jan 23, 2023 |
| Intellectual disability, autosomal dominant 53 | 1 | Jun 30, 2023 |
| Intellectual disability, autosomal dominant 56 | 1 | Mar 26, 2024 |
| Intellectual disability, autosomal dominant 8 | 1 | Jul 19, 2022 |
| Intellectual disability, autosomal recessive 64 | 1 | Sep 16, 2022 |
| Intellectual disability, autosomal recessive 65 | 1 | May 3, 2023 |
| Intellectual disability, mild | 2 | Sep 19, 2022 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 4 | Aug 25, 2022 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Oct 20, 2020 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | May 5, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Apr 12, 2023 |
| Joubert syndrome 37 | 1 | Sep 5, 2022 |
| Joubert syndrome 40 | 1 | May 25, 2022 |
| Kabuki syndrome 1 | 9 | Oct 12, 2022 |
| Keppen-Lubinsky syndrome | 1 | Sep 8, 2021 |
| Khan-Khan-Katsanis syndrome | 1 | Sep 9, 2022 |
| Kleefstra syndrome 1 | 1 | Jul 3, 2023 |
| Kleefstra syndrome 2 | 1 | Mar 15, 2021 |
| Koolen-de Vries syndrome | 1 | Oct 7, 2020 |
| Landau-Kleffner syndrome | 1 | Sep 26, 2022 |
| Late-onset retinal degeneration | 1 | May 27, 2022 |
| Lesch-Nyhan syndrome | 1 | Apr 16, 2024 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 1 | Sep 26, 2022 |
| Linear skin defects with multiple congenital anomalies 1 | 1 | Jul 22, 2023 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Jul 29, 2021 |
| Lissencephaly due to TUBA1A mutation | 2 | Sep 30, 2020 |
| Loeys-Dietz syndrome 4 | 1 | Mar 19, 2024 |
| Long QT syndrome 1 | 1 | Feb 16, 2023 |
| Long QT syndrome 12 | 1 | Nov 12, 2020 |
| Long QT syndrome 2 | 2 | Jan 4, 2022 |
| Long QT syndrome 3 | 1 | Jun 7, 2022 |
| Long QT syndrome 6 | 1 | May 23, 2022 |
| Long qt syndrome 8 | 1 | Dec 18, 2020 |
| Lower limb spasticity | 1 | Jul 19, 2019 |
| Luscan-Lumish syndrome | 1 | Sep 29, 2020 |
| Lynch syndrome 1 | 2 | Mar 5, 2021 |
| Lynch syndrome 5 | 1 | Mar 15, 2018 |
| Macrocephaly | 1 | Jul 26, 2019 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2 | Aug 24, 2023 |
| Macular degeneration, age-related, 3 | 1 | Jun 18, 2021 |
| Macular dystrophy with central cone involvement | 1 | Jan 23, 2023 |
| Maple syrup urine disease, mild variant | 1 | Jun 7, 2023 |
| Marfan syndrome | 3 | Mar 27, 2024 |
| Maturity-onset diabetes of the young type 2 | 1 | Oct 21, 2020 |
| McCune-Albright syndrome | 1 | Mar 26, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 1 | Aug 18, 2017 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 1 | Aug 18, 2017 |
| Meier-Gorlin syndrome 1 | 2 | Jul 7, 2021 |
| Menke-Hennekam syndrome 1 | 1 | Feb 18, 2021 |
| Methylcobalamin deficiency type cblG | 1 | Mar 27, 2024 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Mar 26, 2024 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | May 14, 2021 |
| Microcephaly | 5 | Jun 30, 2020 |
| Microcephaly 18, primary, autosomal dominant | 1 | Oct 6, 2021 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | May 15, 2018 |
| Microcephaly 20, primary, autosomal recessive | 1 | Sep 22, 2020 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Mar 9, 2022 |
| Microcephaly, short stature, and limb abnormalities | 1 | Oct 2, 2018 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Mar 26, 2024 |
| Mucocutaneous ulceration, chronic | 1 | Apr 12, 2024 |
| Mucolipidosis type II | 1 | Feb 27, 2024 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Sep 22, 2020 |
| Muir-Torré syndrome | 1 | Feb 3, 2022 |
| Muscular atrophy | 1 | Jul 30, 2021 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | May 19, 2022 |
| Myopathy | 2 | Apr 4, 2019 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Oct 2, 2020 |
| Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | 1 | Aug 27, 2021 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Sep 22, 2020 |
| Nail-patella syndrome | 1 | May 19, 2023 |
| Nemaline myopathy 2 | 1 | Dec 9, 2020 |
| Nemaline myopathy 6 | 1 | Jun 15, 2020 |
| Nephronophthisis 14 | 1 | Oct 29, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Dec 27, 2019 |
| Neurodevelopmental abnormality | 1 | Aug 2, 2022 |
| Neurodevelopmental delay | 4 | Jul 19, 2019 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Jan 15, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Jan 20, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 2 | Oct 7, 2022 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 1 | Feb 16, 2023 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Jul 13, 2022 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Apr 28, 2023 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Mar 21, 2023 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Mar 22, 2023 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 | Jun 30, 2023 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 | Jan 3, 2022 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Dec 10, 2020 |
| Neurofibromatosis, type 1 | 3 | Jul 13, 2023 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 1 | Nov 14, 2023 |
| Neuronopathy, distal hereditary motor, type 7B | 2 | Jun 4, 2021 |
| Nicolaides-Baraitser syndrome | 2 | Aug 8, 2023 |
| Nijmegen breakage syndrome-like disorder | 1 | Mar 27, 2024 |
| Noonan syndrome 10 | 1 | Jan 31, 2024 |
| Noonan syndrome 4 | 1 | Dec 30, 2019 |
| Norman-Roberts syndrome | 1 | May 15, 2018 |
| O'Donnell-Luria-Rodan syndrome | 1 | Oct 27, 2021 |
| Obesity | 1 | Oct 21, 2020 |
| Occult macular dystrophy | 1 | Apr 12, 2022 |
| Oculomotor apraxia | 2 | Nov 23, 2021 |
| Ogden syndrome | 2 | May 20, 2022 |
| Optic atrophy 9 | 4 | Mar 26, 2024 |
| Orofaciodigital syndrome I | 1 | Sep 12, 2018 |
| Osteochondritis dissecans | 1 | Feb 22, 2021 |
| Osteogenesis imperfecta | 1 | Apr 7, 2022 |
| Osteogenesis imperfecta type I | 2 | Feb 6, 2024 |
| Osteopathia striata with cranial sclerosis | 1 | Jun 9, 2022 |
| Osteoporosis | 2 | Mar 7, 2022 |
| Oto-palato-digital syndrome, type I | 1 | Jan 23, 2023 |
| PERCHING syndrome | 2 | Sep 8, 2021 |
| PHARC syndrome | 1 | May 20, 2022 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Mar 8, 2023 |
| Papillary renal cell carcinoma type 1 | 1 | May 5, 2023 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Mar 5, 2024 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Sep 9, 2022 |
| Paroxysmal dyskinesia | 1 | Mar 18, 2022 |
| Periventricular nodular heterotopia 9 | 3 | May 19, 2023 |
| Peroxisome biogenesis disorder 9B | 1 | Feb 9, 2021 |
| Peters plus syndrome | 1 | Sep 8, 2021 |
| Phelan-McDermid syndrome | 3 | Mar 17, 2023 |
| Pheochromocytoma | 1 | Mar 25, 2024 |
| Pigmented nodular adrenocortical disease, primary, 2 | 1 | May 17, 2023 |
| Pilarowski-Bjornsson syndrome | 1 | Mar 6, 2023 |
| Polycystic kidney disease 2 | 1 | Jun 21, 2021 |
| Polyneuropathy | 1 | Mar 11, 2022 |
| Pontocerebellar hypoplasia type 2A | 1 | Jul 26, 2019 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 1 | Dec 18, 2020 |
| Pontocerebellar hypoplasia, type 1C | 2 | Jun 9, 2022 |
| Premature ovarian failure 3 | 2 | Mar 27, 2024 |
| Premature ovarian failure 7 | 1 | Jan 3, 2023 |
| Primrose syndrome | 1 | Feb 4, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 | Oct 21, 2020 |
| Progressive familial heart block type IB | 1 | Aug 8, 2017 |
| Progressive sclerosing poliodystrophy | 1 | Mar 5, 2021 |
| Protan defect | 1 | Dec 15, 2023 |
| Ptosis | 1 | Apr 4, 2019 |
| Rahman syndrome | 1 | Mar 27, 2024 |
| Rajab interstitial lung disease with brain calcifications 2 | 2 | Dec 13, 2022 |
| Renal agenesis | 1 | Jul 19, 2019 |
| Renal hypoplasia/aplasia | 1 | Jul 19, 2019 |
| Renpenning syndrome | 1 | Mar 3, 2021 |
| Retinitis pigmentosa 11 | 1 | May 23, 2022 |
| Retinitis pigmentosa 18 | 1 | Dec 14, 2021 |
| Retinitis pigmentosa 2 | 1 | Jan 5, 2022 |
| Retinitis pigmentosa 43 | 1 | Sep 5, 2023 |
| Retinitis pigmentosa 83 | 1 | Dec 14, 2021 |
| Seckel syndrome 5 | 1 | Feb 22, 2017 |
| See cases | 13 | Jun 5, 2023 |
| Seizure | 5 | Sep 19, 2022 |
| Seizures, benign familial neonatal, 2 | 1 | Aug 15, 2023 |
| Sensorineural hearing loss disorder | 2 | Apr 13, 2019 |
| Sessile serrated polyposis cancer syndrome | 1 | Dec 5, 2022 |
| Severe early-childhood-onset retinal dystrophy | 1 | Jul 3, 2023 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Nov 24, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 3, 2022 |
| Severe myoclonic epilepsy in infancy | 1 | Nov 24, 2022 |
| Short stature | 4 | Jan 26, 2022 |
| Shukla-Vernon syndrome | 1 | Jun 15, 2020 |
| Sifrim-Hitz-Weiss syndrome | 1 | Sep 6, 2023 |
| Snijders Blok-Campeau syndrome | 2 | Jan 23, 2023 |
| Sotos syndrome | 7 | Dec 5, 2022 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Jan 23, 2023 |
| Spastic tetraparesis | 2 | Feb 4, 2022 |
| Spinocerebellar ataxia 47 | 1 | Mar 5, 2021 |
| Spinocerebellar ataxia type 14 | 1 | Sep 23, 2020 |
| Spinocerebellar ataxia type 29 | 2 | Jul 26, 2022 |
| Spinocerebellar ataxia type 35 | 2 | May 27, 2022 |
| Spinocerebellar ataxia type 38 | 1 | Nov 12, 2020 |
| Spinocerebellar ataxia type 42 | 1 | Jun 8, 2023 |
| Spinocerebellar ataxia type 5 | 1 | Mar 22, 2021 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Apr 13, 2023 |
| Spondyloepiphyseal dysplasia congenita | 1 | Jan 18, 2023 |
| Suleiman-El-Hattab syndrome | 1 | Aug 24, 2021 |
| Syndromic X-linked intellectual disability 14 | 1 | Jun 15, 2020 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Oct 8, 2020 |
| Syndromic X-linked intellectual disability Najm type | 1 | May 15, 2018 |
| Tall stature | 3 | Apr 30, 2020 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Aug 3, 2018 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Mar 1, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Jun 28, 2018 |
| Timothy syndrome | 1 | Dec 18, 2020 |
| Torsion dystonia 4 | 1 | Oct 13, 2022 |
| Trichorhinophalangeal dysplasia type I | 2 | Feb 1, 2024 |
| Tuberous sclerosis 1 | 1 | Nov 9, 2022 |
| Tuberous sclerosis 2 | 1 | Nov 25, 2022 |
| Tyrosinase-negative oculocutaneous albinism | 1 | Jan 29, 2021 |
| Usher syndrome | 1 | Oct 7, 2020 |
| Usher syndrome type 2A | 4 | Jan 23, 2023 |
| Usher syndrome type 2C | 1 | Sep 6, 2023 |
| Vertebral hypersegmentation and orofacial anomalies | 1 | Aug 22, 2022 |
| Ververi-Brady syndrome | 1 | May 14, 2021 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jun 15, 2020 |
| Vissers-Bodmer syndrome | 1 | Jul 1, 2021 |
| Vitelliform macular dystrophy 2 | 1 | Apr 19, 2023 |
| Vitelliform macular dystrophy 4 | 1 | Jan 11, 2023 |
| Weaver syndrome | 1 | Jul 18, 2017 |
| Wiedemann-Steiner syndrome | 1 | Jun 3, 2022 |
| X-linked intellectual disability Cabezas type | 1 | Mar 22, 2022 |
| X-linked intellectual disability, Cantagrel type | 1 | Oct 9, 2020 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | May 25, 2022 |
| Zimmermann-laband syndrome 3 | 1 | Dec 21, 2022 |
| neuro-ectodermal phenotype | 1 | Dec 2, 2019 |
| not provided | 12 | Oct 10, 2018 |
| not specified | 10 | Jul 5, 2017 |
