| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Mar 2, 2017 |
| AFib amyloidosis | 1 | Mar 20, 2018 |
| Abnormal circulating lipid concentration | 1 | Mar 18, 2016 |
| Abnormal facial shape | 1 | Jun 29, 2018 |
| Adult hypophosphatasia | 1 | Feb 1, 2019 |
| Adult polyglucosan body disease | 2 | May 19, 2017 |
| Aganglionic megacolon | 3 | Jul 5, 2019 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Dec 8, 2016 |
| Amyotrophic lateral sclerosis | 2 | Jul 5, 2019 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Nov 14, 2023 |
| Aneurysm-osteoarthritis syndrome | 1 | Jun 28, 2021 |
| Aniridia 1 | 1 | Feb 1, 2019 |
| Arrhythmogenic right ventricular cardiomyopathy | 1 | Feb 14, 2017 |
| Arteriohepatic dysplasia | 1 | Mar 20, 2018 |
| Arthrogryposis multiplex congenita | 3 | Mar 8, 2021 |
| Asphyxiating thoracic dystrophy 3 | 2 | May 19, 2017 |
| Ataxia-telangiectasia syndrome | 5 | May 19, 2017 |
| Atypical behavior | 1 | Jun 21, 2016 |
| Autistic behavior | 3 | Jun 29, 2018 |
| Autosomal dominant Alport syndrome | 1 | Jun 28, 2021 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Feb 1, 2019 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 | Feb 1, 2019 |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Jun 28, 2021 |
| Autosomal dominant nonsyndromic hearing loss 20 | 3 | Jul 5, 2021 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Mar 2, 2017 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Jun 28, 2021 |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 | Jun 28, 2021 |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 | Jun 28, 2021 |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 | Jun 28, 2021 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Jun 28, 2021 |
| Autosomal dominant optic atrophy classic form | 1 | Nov 15, 2017 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Jun 13, 2017 |
| Autosomal recessive Alport syndrome | 2 | Mar 2, 2017 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Oct 19, 2023 |
| Autosomal recessive multiple pterygium syndrome | 1 | Oct 23, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 3 | Jul 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 16 | 6 | Jul 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 | Jul 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 | Mar 2, 2017 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Jul 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 23 | 2 | Jul 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Jun 28, 2021 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Jun 28, 2021 |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 | Jul 5, 2019 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Jun 28, 2021 |
| Autosomal recessive nonsyndromic hearing loss 53 | 2 | Jul 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 | Jun 28, 2021 |
| Autosomal recessive nonsyndromic hearing loss 8 | 4 | Jul 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 86 | 2 | Feb 1, 2019 |
| Autosomal recessive polycystic kidney disease | 2 | Feb 1, 2019 |
| BAP1-related tumor predisposition syndrome | 1 | Nov 15, 2017 |
| Benign familial hematuria | 1 | Feb 1, 2019 |
| Benign hereditary chorea | 1 | Nov 15, 2017 |
| Bernard Soulier syndrome | 1 | Mar 20, 2018 |
| Beta-D-mannosidosis | 2 | Oct 23, 2023 |
| Bilateral ptosis | 1 | Jun 21, 2016 |
| Bilateral sensorineural hearing impairment | 1 | Sep 13, 2016 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Jun 21, 2016 |
| Branchiootic syndrome 1 | 1 | Jul 5, 2019 |
| Branchiootic syndrome 3 | 1 | Jun 28, 2021 |
| CARASIL syndrome | 1 | Feb 14, 2017 |
| CFHR5 deficiency | 1 | May 3, 2016 |
| CHARGE association | 3 | Oct 19, 2023 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Mar 20, 2018 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Jul 6, 2017 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Jun 21, 2016 |
| Cardiomyopathy | 1 | Mar 20, 2018 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Dec 8, 2016 |
| Central core myopathy | 1 | Feb 1, 2019 |
| Cerebellar ataxia | 1 | Feb 14, 2017 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Jun 21, 2016 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Jul 5, 2019 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Jun 21, 2016 |
| Charlevoix-Saguenay spastic ataxia | 1 | Mar 2, 2017 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Jul 6, 2017 |
| Cholestasis, progressive familial intrahepatic, 4 | 2 | Mar 2, 2017 |
| Chorea | 1 | Feb 14, 2017 |
| Clinodactyly of the 4th toe | 1 | Jun 29, 2018 |
| Clinodactyly of the 5th finger | 1 | Jun 29, 2018 |
| Cohen syndrome | 2 | May 3, 2016 |
| Congenital contracture | 1 | Dec 8, 2016 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Jun 29, 2018 |
| Congenital muscular hypertrophy-cerebral syndrome | 2 | Jun 13, 2017 |
| Congenital myasthenic syndrome 8 | 1 | Feb 14, 2017 |
| Congenital myopathy 23 | 1 | May 19, 2017 |
| Congenital myopathy with fiber type disproportion | 1 | May 19, 2017 |
| Continuous spike and waves during slow sleep | 1 | Nov 15, 2017 |
| Cornelia de Lange syndrome 1 | 1 | Dec 8, 2016 |
| Creatine transporter deficiency | 1 | Oct 19, 2023 |
| Cronkhite-Canada syndrome | 1 | Sep 13, 2016 |
| Cystinuria | 1 | Jun 21, 2016 |
| DNA ligase IV deficiency | 2 | Dec 8, 2016 |
| DYRK1A-related intellectual disability syndrome | 2 | Jun 13, 2017 |
| De Lange syndrome | 3 | Jul 5, 2019 |
| Deafness-infertility syndrome | 1 | Jun 28, 2021 |
| Deeply set eye | 1 | Sep 13, 2016 |
| Deficiency of guanidinoacetate methyltransferase | 2 | Jul 5, 2019 |
| Delayed speech and language development | 1 | Jul 6, 2017 |
| Dentinogenesis imperfecta type 2 | 1 | Oct 19, 2023 |
| Desmin-related myofibrillar myopathy | 1 | Feb 14, 2017 |
| Developmental and epileptic encephalopathy, 19 | 1 | Mar 2, 2017 |
| Developmental and epileptic encephalopathy, 2 | 2 | Jun 13, 2017 |
| Developmental and epileptic encephalopathy, 27 | 1 | Dec 8, 2016 |
| Developmental and epileptic encephalopathy, 4 | 2 | Nov 15, 2017 |
| Developmental and epileptic encephalopathy, 7 | 3 | Jul 6, 2017 |
| Dilated cardiomyopathy 1A | 1 | Feb 1, 2019 |
| Dilated cardiomyopathy 1C | 1 | Feb 1, 2019 |
| Dilated cardiomyopathy 1D | 2 | Jun 13, 2017 |
| Dilated cardiomyopathy 1G | 4 | Oct 19, 2023 |
| Dilated cardiomyopathy 1KK | 1 | Jun 29, 2018 |
| Disproportionate tall stature | 1 | Nov 15, 2017 |
| Early infantile epileptic encephalopathy with suppression bursts | 1 | Mar 20, 2018 |
| Effort-induced polymorphic ventricular tachycardia | 1 | Jun 21, 2016 |
| Ehlers-Danlos syndrome, classic type | 1 | Mar 18, 2016 |
| Encephalopathy due to GLUT1 deficiency | 1 | Nov 15, 2017 |
| Epilepsy | 1 | Mar 20, 2018 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Jul 5, 2019 |
| Epileptic encephalopathy | 1 | Feb 14, 2017 |
| Episodic ataxia type 2 | 1 | May 3, 2016 |
| Exostoses, multiple, type 1 | 1 | Nov 15, 2017 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 | Jun 29, 2018 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Dec 8, 2016 |
| Familial cancer of breast | 2 | Nov 15, 2017 |
| Familial encephalopathy with neuroserpin inclusion bodies | 2 | May 19, 2017 |
| Familial hypokalemia-hypomagnesemia | 3 | Feb 1, 2019 |
| Familial isolated dilated cardiomyopathy | 2 | Jun 29, 2018 |
| Familial isolated hyperparathyroidism | 1 | Jun 29, 2018 |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 | Mar 2, 2017 |
| Familial temporal lobe epilepsy 5 | 1 | Jun 13, 2017 |
| Familial thoracic aortic aneurysm and aortic dissection | 1 | Jan 12, 2021 |
| Fraser syndrome 1 | 2 | Oct 23, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 | Feb 14, 2017 |
| Functional motor deficit | 1 | Sep 13, 2016 |
| GLUT1 deficiency syndrome | 1 | Feb 1, 2019 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 2 | Jun 13, 2017 |
| Generalized dystonia | 1 | Sep 13, 2016 |
| Global developmental delay | 2 | Jun 13, 2017 |
| Glomerulopathy | 1 | Mar 2, 2017 |
| Gorlin syndrome | 1 | Feb 1, 2019 |
| Granulomatous disease, chronic, X-linked | 1 | Nov 15, 2017 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Jun 29, 2018 |
| Hearing loss, autosomal dominant 37 | 3 | Jul 5, 2021 |
| Hearing loss, autosomal recessive | 1 | Mar 20, 2018 |
| Hematuria | 1 | Mar 2, 2017 |
| Hereditary episodic ataxia | 1 | Mar 18, 2016 |
| Hereditary motor and sensory neuropathy with optic atrophy | 1 | May 19, 2017 |
| Hereditary pancreatitis | 2 | Feb 1, 2019 |
| Hereditary spastic paraplegia 4 | 3 | Oct 19, 2023 |
| Hereditary spastic paraplegia 56 | 2 | Jul 6, 2017 |
| Hereditary spastic paraplegia 7 | 2 | Nov 15, 2017 |
| Hereditary spastic paraplegia 8 | 2 | Nov 15, 2017 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 1 | Oct 23, 2023 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Nov 15, 2017 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 2 | Jun 21, 2016 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | May 3, 2016 |
| Hypertonia | 1 | Jul 6, 2017 |
| Hypertrophic cardiomyopathy | 5 | Jul 5, 2019 |
| Hypertrophic cardiomyopathy 1 | 1 | Nov 15, 2017 |
| Hypertrophic cardiomyopathy 15 | 1 | Jun 13, 2017 |
| Hypertrophic cardiomyopathy 4 | 16 | Oct 23, 2023 |
| Hypertrophic cardiomyopathy 8 | 1 | Jun 29, 2018 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Dec 8, 2016 |
| Hypoparathyroidism, deafness, renal disease syndrome | 2 | Jun 28, 2021 |
| Hypophosphatemic rickets, X-linked recessive | 1 | Jun 29, 2018 |
| Imerslund-Grasbeck syndrome | 2 | Jul 5, 2019 |
| Immunodeficiency 14 | 1 | Jun 13, 2017 |
| Immunodeficiency, common variable, 2 | 1 | Jul 6, 2017 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Jun 29, 2018 |
| Infantile muscular hypotonia | 1 | Jun 13, 2017 |
| Infantile nephronophthisis | 2 | Jul 5, 2019 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | May 19, 2017 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Oct 23, 2023 |
| Intellectual disability | 4 | Jun 13, 2017 |
| Intellectual disability syndrome due to a DYRK1A point mutation | 1 | Mar 20, 2018 |
| Intellectual disability, X-linked 1 | 1 | Dec 8, 2016 |
| Intellectual disability, autosomal dominant 22 | 1 | Mar 2, 2017 |
| Intellectual disability, autosomal dominant 29 | 1 | Mar 18, 2016 |
| Intellectual disability, autosomal dominant 4 | 1 | Mar 18, 2016 |
| Intellectual disability, autosomal dominant 5 | 2 | Jun 13, 2017 |
| Intellectual disability, autosomal dominant 8 | 1 | Mar 2, 2017 |
| Intellectual disability, mild | 1 | Jul 5, 2019 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jul 6, 2017 |
| Isolated anophthalmia-microphthalmia syndrome | 1 | Jun 29, 2018 |
| Joubert syndrome 33 | 1 | Jul 12, 2021 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Nov 15, 2017 |
| KBG syndrome | 2 | Jun 13, 2017 |
| Kabuki syndrome 1 | 4 | Jul 6, 2017 |
| Kabuki syndrome 2 | 1 | Dec 8, 2016 |
| Karyomegalic interstitial nephritis | 2 | May 19, 2017 |
| Kleefstra syndrome 1 | 1 | Oct 19, 2023 |
| LEOPARD syndrome 1 | 1 | May 3, 2016 |
| Landau-Kleffner syndrome | 1 | Jun 29, 2018 |
| Leber congenital amaurosis | 2 | Jun 29, 2018 |
| Lethal congenital contracture syndrome 11 | 1 | Jun 29, 2018 |
| Lissencephaly due to LIS1 mutation | 1 | Feb 14, 2017 |
| Long QT syndrome 2 | 2 | Jul 5, 2019 |
| Macrocephaly | 1 | Sep 13, 2016 |
| Marfan syndrome | 5 | Jul 5, 2019 |
| Marshall syndrome | 3 | Jul 5, 2021 |
| Melanoma-pancreatic cancer syndrome | 1 | Feb 1, 2019 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Jun 13, 2017 |
| Microcephaly | 1 | Sep 13, 2016 |
| Microcephaly 5, primary, autosomal recessive | 2 | Sep 13, 2016 |
| Microcephaly 8, primary, autosomal recessive | 1 | Jul 6, 2017 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Jun 29, 2018 |
| Microcytic anemia | 1 | Feb 1, 2019 |
| Migraine, familial hemiplegic, 1 | 3 | Jun 13, 2017 |
| Mitochondrial complex III deficiency nuclear type 2 | 1 | May 19, 2017 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Feb 14, 2017 |
| Moderate global developmental delay | 3 | Jun 29, 2018 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Dec 8, 2016 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 1 | Nov 15, 2017 |
| Mutism | 1 | Dec 8, 2016 |
| Myoclonic dystonia 11 | 1 | Dec 8, 2016 |
| Nemaline myopathy 9 | 2 | Jul 5, 2019 |
| Neurodegeneration with brain iron accumulation 5 | 2 | Oct 23, 2023 |
| Neurodevelopmental delay | 1 | Jun 21, 2016 |
| Neurofibromatosis, type 1 | 10 | Jun 29, 2018 |
| Neurofibromatosis, type 2 | 1 | Jun 28, 2021 |
| Neurofibromatosis-Noonan syndrome | 1 | Jun 29, 2018 |
| Neuronal ceroid lipofuscinosis 10 | 1 | Mar 18, 2016 |
| Nicolaides-Baraitser syndrome | 1 | Feb 14, 2017 |
| Nonsyndromic genetic hearing loss | 1 | Mar 20, 2018 |
| Noonan syndrome | 1 | Jun 29, 2018 |
| Noonan syndrome 1 | 6 | Feb 1, 2019 |
| Noonan syndrome 2 | 2 | Oct 19, 2023 |
| Noonan syndrome 4 | 1 | Jul 6, 2017 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Jun 28, 2021 |
| Osteogenesis imperfecta | 2 | Feb 1, 2019 |
| Osteogenesis imperfecta type I | 1 | Oct 19, 2023 |
| Palmoplantar keratoderma-deafness syndrome | 1 | Jun 28, 2021 |
| Paroxysmal extreme pain disorder | 1 | Jun 13, 2017 |
| Pelizaeus-Merzbacher disease | 1 | Mar 2, 2017 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Jul 5, 2019 |
| Perrault syndrome | 2 | Jul 5, 2019 |
| Pettigrew syndrome | 1 | Feb 14, 2017 |
| Pheochromocytoma | 1 | Mar 2, 2017 |
| Pitt-Hopkins syndrome | 3 | Jul 5, 2019 |
| Pituitary adenoma 5, multiple types | 1 | Jul 5, 2021 |
| Polycystic kidney disease 2 | 1 | Mar 2, 2017 |
| Presynaptic congenital myasthenic syndrome | 1 | Jun 29, 2018 |
| Primary ciliary dyskinesia | 2 | Mar 20, 2018 |
| Primary ciliary dyskinesia 2 | 1 | Nov 15, 2017 |
| Primary dilated cardiomyopathy | 4 | Mar 20, 2018 |
| Profound global developmental delay | 1 | Feb 14, 2017 |
| Progressive familial intrahepatic cholestasis type 1 | 2 | Oct 19, 2023 |
| Prolonged QT interval | 1 | Mar 2, 2017 |
| Psychotic disorder | 1 | Dec 8, 2016 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Jul 6, 2017 |
| Renal hypoplasia | 1 | Jun 21, 2016 |
| Retinitis pigmentosa 39 | 2 | Jul 5, 2021 |
| Rett syndrome | 1 | Mar 2, 2017 |
| Rhabdoid tumor predisposition syndrome 1 | 1 | Jul 5, 2019 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | Jun 29, 2018 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Mar 2, 2017 |
| Seizure | 6 | Jul 5, 2019 |
| Seizures, benign familial infantile, 3 | 1 | Jul 5, 2019 |
| Seizures, benign familial neonatal, 1 | 1 | May 3, 2016 |
| Severe early-childhood-onset retinal dystrophy | 1 | Jul 6, 2017 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 13, 2016 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Jun 21, 2016 |
| Severe myoclonic epilepsy in infancy | 1 | Sep 13, 2016 |
| Severe postnatal growth retardation | 1 | Mar 20, 2018 |
| Smith-Lemli-Opitz syndrome | 2 | Mar 2, 2017 |
| Specific learning disability | 1 | Sep 13, 2016 |
| Spinocerebellar ataxia type 5 | 1 | May 3, 2016 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 | Oct 19, 2023 |
| Spondyloepiphyseal dysplasia congenita | 1 | Feb 1, 2019 |
| Stickler syndrome type 2 | 3 | Jul 5, 2021 |
| Storage pool disease of platelets | 1 | Jun 29, 2018 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Dec 8, 2016 |
| Syndromic X-linked intellectual disability Najm type | 1 | Jun 13, 2017 |
| Synostosis involving bones of the lower limbs | 1 | Mar 20, 2018 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Mar 20, 2018 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 2 | Jul 6, 2017 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 3 | Jul 5, 2019 |
| Thrombocytopenia 2 | 1 | Jul 5, 2019 |
| Tuberous sclerosis 1 | 1 | Feb 14, 2017 |
| Tuberous sclerosis 2 | 4 | Jun 13, 2017 |
| Tyrosinase-negative oculocutaneous albinism | 3 | Jun 29, 2018 |
| Usher syndrome type 1D | 1 | Jul 5, 2021 |
| Usher syndrome type 1G | 1 | Jun 28, 2021 |
| Usher syndrome type 2 | 2 | Jul 5, 2019 |
| Usher syndrome type 2A | 4 | Jul 5, 2021 |
| Vertigo | 1 | Mar 18, 2016 |
| Wolfram-like syndrome | 1 | Jun 28, 2021 |
| X-linked Alport syndrome | 5 | Jun 28, 2021 |
| X-linked hydrocephalus syndrome | 1 | May 3, 2016 |
| X-linked intellectual disability Cabezas type | 2 | Feb 1, 2019 |
| X-linked intellectual disability, Cantagrel type | 1 | Mar 2, 2017 |
| Xeroderma pigmentosum variant type | 1 | Jan 3, 2024 |
