| 11p13 microduplication syndrome | 1 | Aug 13, 2024 |
| 2-3 finger cutaneous syndactyly | 1 | Feb 9, 2021 |
| 46,XY sex reversal 6 | 1 | Jun 18, 2021 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Apr 4, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Oct 21, 2020 |
| Abnormality of the eye | 1 | Apr 7, 2021 |
| Acrodysostosis 2 with or without hormone resistance | 1 | Sep 3, 2024 |
| Acute intermittent porphyria | 2 | Dec 6, 2023 |
| Alagille syndrome due to a JAG1 point mutation | 1 | May 3, 2022 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Nov 15, 2023 |
| Alzheimer disease type 1 | 1 | Nov 15, 2023 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 2 | Dec 1, 2023 |
| Aortic valve disease 1 | 1 | Nov 23, 2023 |
| Arthrogryposis, distal, type 2B3 | 1 | Aug 8, 2023 |
| Ataxia-pancytopenia syndrome | 1 | Dec 23, 2021 |
| Atelosteogenesis type III | 1 | May 26, 2020 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Jan 17, 2022 |
| Autistic behavior | 1 | Nov 16, 2023 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Dec 7, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Jul 19, 2021 |
| Autosomal dominant nonsyndromic hearing loss 69 | 1 | Jun 6, 2023 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 | Nov 24, 2020 |
| Autosomal recessive congenital ichthyosis 1 | 2 | Jul 18, 2022 |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 | Jul 20, 2022 |
| Becker muscular dystrophy | 1 | Nov 5, 2021 |
| Bethlem myopathy 1A | 1 | Dec 5, 2023 |
| Birt-Hogg-Dube syndrome | 1 | Nov 17, 2022 |
| Blepharophimosis | 1 | Oct 2, 2020 |
| Brachydactyly type A1A | 1 | Jun 16, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Aug 8, 2023 |
| Bronchiectasis | 2 | Feb 22, 2021 |
| Brugada syndrome 1 | 1 | Sep 3, 2024 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 1 | Apr 28, 2022 |
| CBL-related disorder | 1 | Nov 13, 2023 |
| CLOVES syndrome | 1 | Sep 22, 2020 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Dec 1, 2023 |
| Central core myopathy | 1 | Jul 19, 2022 |
| Cerebellar ataxia-hypogonadism syndrome | 2 | Jul 19, 2022 |
| Cerebral amyloid angiopathy, APP-related | 1 | Nov 15, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Nov 15, 2023 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Nov 5, 2021 |
| Charcot-Marie-Tooth Disease, axonal, type 2GG | 2 | Jun 2, 2022 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Dec 21, 2023 |
| Charcot-Marie-Tooth disease axonal type 2F | 2 | Dec 1, 2023 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Jul 19, 2021 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Dec 23, 2021 |
| Charcot-Marie-Tooth disease axonal type 2S | 1 | Jul 19, 2022 |
| Charcot-Marie-Tooth disease axonal type 2T | 2 | Dec 1, 2023 |
| Charcot-Marie-Tooth disease axonal type 2U | 1 | Jun 2, 2022 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Dec 5, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 | Oct 4, 2021 |
| Charcot-Marie-Tooth disease type 2A1 | 1 | Feb 22, 2022 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Dec 1, 2023 |
| Charcot-Marie-Tooth disease type 2E | 1 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease type 4C | 1 | Aug 10, 2020 |
| Charlevoix-Saguenay spastic ataxia | 3 | Jul 15, 2021 |
| Chromosome 15q11.2 deletion syndrome | 1 | Aug 13, 2024 |
| Coffin-Siris syndrome 1 | 1 | May 24, 2023 |
| Cohen syndrome | 1 | Jun 15, 2020 |
| Colorectal cancer | 1 | Jul 27, 2022 |
| Combined immunodeficiency due to moesin deficiency | 1 | Oct 19, 2023 |
| Combined oxidative phosphorylation deficiency 28 | 2 | Sep 1, 2022 |
| Combined oxidative phosphorylation deficiency 53 | 1 | Oct 26, 2021 |
| Combined oxidative phosphorylation deficiency 55 | 2 | Apr 29, 2022 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Oct 4, 2021 |
| Congenital heart defects and skeletal malformations syndrome | 1 | Apr 10, 2024 |
| Congenital heart defects, multiple types, 2 | 1 | Apr 10, 2024 |
| Congenital hereditary endothelial dystrophy of cornea | 1 | Feb 3, 2021 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Dec 6, 2023 |
| Congenital myasthenic syndrome 12 | 1 | Aug 13, 2024 |
| Congenital myotonia, autosomal dominant form | 1 | Jun 16, 2023 |
| Congenital myotonia, autosomal recessive form | 1 | Dec 5, 2023 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 | Aug 8, 2023 |
| Cornelia de Lange syndrome 3 | 1 | Dec 11, 2023 |
| Creatine transporter deficiency | 1 | Sep 8, 2021 |
| DYRK1A-related intellectual disability syndrome | 1 | Feb 9, 2023 |
| Delayed myelination | 1 | Nov 20, 2019 |
| Dermatofibrosis lenticularis disseminata | 1 | May 30, 2022 |
| Developmental and epileptic encephalopathy, 59 | 1 | Feb 24, 2023 |
| Developmental and epileptic encephalopathy, 69 | 1 | Dec 23, 2021 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | Oct 26, 2022 |
| Diabetes insipidus, nephrogenic, X-linked | 1 | Mar 7, 2024 |
| Dilated cardiomyopathy 1S | 1 | Jul 19, 2022 |
| Dilated cardiomyopathy 1Z | 1 | Dec 14, 2023 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Dec 23, 2021 |
| Ehlers-Danlos syndrome, classic type, 1 | 2 | Dec 1, 2023 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Dec 1, 2023 |
| Encephalopathy due to GLUT1 deficiency | 1 | Sep 28, 2018 |
| Episodic ataxia type 2 | 2 | Oct 4, 2021 |
| Familial adenomatous polyposis 1 | 1 | Jul 14, 2022 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 | Aug 13, 2024 |
| Familial idiopathic inflammatory myopathy | 1 | Nov 5, 2021 |
| Familial juvenile hyperuricemic nephropathy type 2 | 1 | Oct 22, 2023 |
| Fragile X syndrome | 1 | Sep 20, 2023 |
| Frank-Ter Haar syndrome | 1 | Oct 20, 2022 |
| Freeman-Sheldon syndrome | 1 | Aug 8, 2023 |
| Gabriele de Vries syndrome | 1 | Feb 1, 2023 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | Sep 3, 2024 |
| Genitourinary and/or brain malformation syndrome | 1 | May 24, 2023 |
| Global developmental delay | 3 | Feb 9, 2021 |
| Global developmental delay with speech and behavioral abnormalities | 1 | May 30, 2023 |
| Gorlin syndrome | 1 | Oct 26, 2021 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Apr 10, 2024 |
| Hand polydactyly | 1 | Jun 14, 2021 |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 | Oct 8, 2021 |
| Hereditary angioedema type 1 | 1 | Sep 3, 2024 |
| Hereditary spastic paraplegia | 1 | May 25, 2023 |
| Hereditary spastic paraplegia 2 | 1 | Aug 8, 2023 |
| Hereditary spastic paraplegia 31 | 1 | Dec 21, 2023 |
| Hereditary spastic paraplegia 39 | 1 | Feb 22, 2022 |
| Hereditary spastic paraplegia 3A | 1 | May 5, 2021 |
| Hereditary spastic paraplegia 4 | 1 | Dec 5, 2023 |
| Hereditary spastic paraplegia 72 | 1 | Jul 19, 2021 |
| Hereditary spastic paraplegia 8 | 1 | Jun 16, 2023 |
| Heterotopia, periventricular, X-linked dominant | 1 | Feb 13, 2024 |
| Hypertrophic cardiomyopathy 1 | 2 | Dec 5, 2023 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 | Dec 23, 2021 |
| Hypoparathyroidism, deafness, renal disease syndrome | 2 | Aug 26, 2021 |
| Hypotonia | 1 | Nov 20, 2019 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 1 | Nov 17, 2022 |
| Intellectual developmental disorder 62 | 1 | Oct 19, 2022 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Feb 9, 2021 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Feb 9, 2021 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 2 | Sep 5, 2023 |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 1 | Sep 3, 2024 |
| Intellectual developmental disorder with neuropsychiatric features | 1 | Aug 9, 2022 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Sep 29, 2022 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | Apr 10, 2024 |
| Intellectual developmental disorder, autosomal dominant 72 | 1 | Nov 13, 2023 |
| Intellectual disability | 2 | Jul 7, 2022 |
| Intellectual disability, X-linked 106 | 1 | Aug 14, 2024 |
| Intellectual disability, X-linked 21 | 1 | Nov 16, 2021 |
| Intellectual disability, X-linked 30 | 1 | Oct 5, 2020 |
| Intellectual disability, autosomal dominant 45 | 1 | Nov 15, 2022 |
| Intellectual disability, autosomal dominant 5 | 1 | Jun 16, 2023 |
| Intellectual disability, autosomal dominant 52 | 1 | Apr 7, 2022 |
| Intellectual disability, autosomal dominant 53 | 1 | Jun 7, 2021 |
| Intellectual disability, autosomal dominant 8 | 1 | May 25, 2023 |
| Intellectual disability, autosomal recessive 50 | 1 | Apr 10, 2024 |
| Intellectual disability, mild | 1 | Dec 2, 2021 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 | Nov 9, 2021 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 3 | Sep 3, 2021 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jun 21, 2021 |
| Joubert syndrome 30 | 1 | Nov 17, 2022 |
| Joubert syndrome with renal defect | 1 | Jun 26, 2023 |
| Kabuki syndrome 1 | 1 | Jun 4, 2021 |
| Kleefstra syndrome 2 | 1 | Oct 14, 2021 |
| Kury-Isidor syndrome | 1 | Feb 9, 2023 |
| Landau-Kleffner syndrome | 1 | Nov 13, 2023 |
| Leber optic atrophy | 1 | Feb 3, 2021 |
| Legius syndrome | 1 | Jul 7, 2022 |
| Leydig cell agenesis | 1 | May 28, 2021 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Feb 21, 2024 |
| Lowe syndrome | 1 | Apr 27, 2023 |
| Lynch syndrome 1 | 1 | Oct 7, 2020 |
| Lynch syndrome 4 | 1 | Sep 21, 2023 |
| MASA syndrome | 1 | Oct 19, 2020 |
| MYH7-related skeletal myopathy | 1 | Aug 14, 2024 |
| Macrocephaly | 1 | Feb 26, 2021 |
| Macrocephaly-autism syndrome | 1 | Nov 15, 2023 |
| Macular dystrophy | 1 | Mar 10, 2021 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | May 18, 2022 |
| Marfan syndrome | 2 | Sep 3, 2024 |
| Maturity-onset diabetes of the young type 2 | 3 | May 23, 2024 |
| Maturity-onset diabetes of the young type 4 | 1 | Apr 6, 2022 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Apr 10, 2024 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Mar 2, 2022 |
| Microcephaly | 5 | May 21, 2021 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Apr 10, 2024 |
| Microscopic hematuria | 1 | Mar 10, 2021 |
| Migraine, familial hemiplegic, 1 | 1 | Oct 4, 2021 |
| Migraine, with or without aura, susceptibility to, 13 | 1 | Oct 4, 2021 |
| Mitochondrial complex 4 deficiency, nuclear type 8 | 1 | Mar 10, 2023 |
| Mitochondrial complex III deficiency nuclear type 8 | 1 | Oct 26, 2022 |
| Mucolipidosis type II | 1 | Apr 10, 2024 |
| Mucopolysaccharidosis type 7 | 1 | Aug 4, 2021 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Feb 9, 2023 |
| Myoclonic-atonic epilepsy | 1 | Dec 1, 2023 |
| Nemaline myopathy 2 | 1 | Dec 5, 2023 |
| Nephronophthisis 4 | 1 | Mar 11, 2022 |
| Neurodevelopmental abnormality | 1 | Nov 16, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 2 | Apr 10, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | May 12, 2022 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 2 | Aug 8, 2023 |
| Neurodevelopmental disorder with microcephaly and movement abnormalities | 1 | Aug 14, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2 | May 30, 2023 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | May 24, 2023 |
| Neurofibromatosis-Noonan syndrome | 1 | Feb 21, 2023 |
| Neuronopathy, distal hereditary motor, type 9 | 1 | Jul 19, 2021 |
| Nizon-Isidor syndrome | 1 | Jul 19, 2021 |
| Norum disease | 1 | Jan 26, 2022 |
| Osteogenesis imperfecta type I | 1 | Nov 23, 2023 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Jul 14, 2020 |
| Overgrowth | 1 | Feb 26, 2021 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Apr 18, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Oct 4, 2021 |
| Paragangliomas 4 | 1 | Nov 30, 2021 |
| Paragangliomas 5 | 1 | Aug 23, 2023 |
| Pelizaeus-Merzbacher disease | 2 | Aug 13, 2024 |
| Pettigrew syndrome | 1 | Jul 13, 2020 |
| Phelan-McDermid syndrome | 2 | Sep 3, 2024 |
| Platelet-type bleeding disorder 17 | 1 | Jan 26, 2022 |
| Polycystic kidney disease 2 | 4 | Jun 13, 2024 |
| Polycystic kidney disease 4 | 4 | Feb 27, 2023 |
| Polycystic kidney disease, adult type | 10 | Aug 8, 2023 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 1 | Sep 3, 2024 |
| Postaxial polydactyly | 1 | Feb 26, 2021 |
| Precocious puberty | 1 | Feb 26, 2021 |
| Primary erythromelalgia | 1 | Nov 17, 2022 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Apr 14, 2022 |
| Radio-Tartaglia syndrome | 1 | Oct 27, 2021 |
| Recurrent fever | 2 | Oct 1, 2021 |
| Renal cysts and diabetes syndrome | 1 | Feb 9, 2021 |
| Retinitis pigmentosa 12 | 1 | May 30, 2023 |
| Retinitis pigmentosa 13 | 1 | Nov 13, 2023 |
| Retinitis pigmentosa 4 | 1 | Nov 13, 2023 |
| Retinitis pigmentosa 40 | 1 | Nov 15, 2023 |
| Retinitis pigmentosa 45 | 2 | Jul 28, 2021 |
| Rienhoff syndrome | 1 | Oct 26, 2022 |
| Rod-cone dystrophy | 3 | Oct 20, 2022 |
| Russell-Silver syndrome | 1 | Aug 13, 2024 |
| Seizure | 2 | May 19, 2022 |
| Sensorineural hearing loss disorder | 1 | Feb 18, 2021 |
| Severe X-linked mitochondrial encephalomyopathy | 1 | Jul 15, 2021 |
| Severe early-childhood-onset retinal dystrophy | 1 | Sep 3, 2024 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Feb 9, 2023 |
| Severe myoclonic epilepsy in infancy | 1 | Sep 3, 2024 |
| Shashi-Pena syndrome | 1 | Feb 1, 2022 |
| Short stature | 1 | May 14, 2020 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 2 | Nov 15, 2023 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 1 | Feb 9, 2021 |
| Shukla-Vernon syndrome | 1 | Feb 9, 2021 |
| Silver-Russell syndrome 5 | 1 | Apr 10, 2024 |
| Silver-russell syndrome 4 | 1 | Apr 10, 2024 |
| Spinocerebellar ataxia 45 | 1 | Jul 19, 2021 |
| Spinocerebellar ataxia 48 | 1 | Aug 27, 2024 |
| Spinocerebellar ataxia type 26 | 1 | Jul 19, 2022 |
| Spinocerebellar ataxia type 42 | 1 | Jul 19, 2021 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | Dec 23, 2021 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 1 | Dec 14, 2023 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 1 | May 17, 2021 |
| Stankiewicz-Isidor syndrome | 1 | Jan 4, 2024 |
| Stormorken syndrome | 1 | Apr 25, 2014 |
| Strabismus | 1 | Jun 15, 2020 |
| Supravalvar aortic stenosis | 1 | Aug 7, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Feb 19, 2024 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Jan 2, 2024 |
| Tay-Sachs disease, variant AB | 1 | Dec 6, 2023 |
| Thrombocythemia 3 | 1 | Oct 28, 2022 |
| Thrombocytopenia 5 | 1 | Nov 15, 2023 |
| Tibial muscular dystrophy | 1 | Dec 23, 2021 |
| Usher syndrome type 2A | 2 | Nov 14, 2022 |
| Usmani-Riazuddin syndrome, autosomal dominant | 1 | Mar 22, 2024 |
| Ventricular septal defect | 1 | Jun 15, 2020 |
| Vissers-Bodmer syndrome | 1 | Feb 9, 2021 |
| Vitelliform macular dystrophy 5 | 1 | Dec 5, 2022 |
| Waardenburg syndrome type 1 | 1 | May 20, 2022 |
| Waardenburg syndrome type 3 | 1 | Aug 13, 2024 |
| Waardenburg syndrome, IIa 2F | 1 | Jun 6, 2023 |
| Werdnig-Hoffmann disease | 2 | Aug 13, 2024 |
| Wiedemann-Steiner syndrome | 1 | Feb 9, 2021 |
| Wilms tumor 1 | 1 | May 23, 2022 |
| Wolfram syndrome 1 | 1 | Sep 3, 2024 |
| X-linked Alport syndrome | 2 | Nov 2, 2023 |
| X-linked intellectual disability, Cantagrel type | 1 | Jul 26, 2022 |
