| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Mar 14, 2024 |
| 3M syndrome 1 | 1 | Dec 1, 2024 |
| 46,XY sex reversal 6 | 1 | May 6, 2024 |
| ACCES syndrome | 1 | Mar 1, 2026 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | May 11, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Nov 1, 2025 |
| ALG9 congenital disorder of glycosylation | 3 | Nov 1, 2025 |
| Aarskog syndrome | 3 | May 6, 2024 |
| Achondrogenesis type II | 1 | May 16, 2024 |
| Acrodysostosis 2 with or without hormone resistance | 1 | May 16, 2024 |
| Acute intermittent porphyria | 1 | Sep 1, 2025 |
| Adams-Oliver syndrome 5 | 1 | Apr 10, 2024 |
| Adams-Oliver syndrome 6 | 1 | Apr 4, 2024 |
| Adenine phosphoribosyltransferase deficiency | 1 | Jul 1, 2026 |
| Adrenoleukodystrophy | 1 | May 16, 2024 |
| Adult hypophosphatasia | 7 | Jul 1, 2026 |
| Age related macular degeneration 13 | 1 | Jul 2, 2025 |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 | Apr 4, 2024 |
| Aicardi-Goutieres syndrome 4 | 1 | Jul 1, 2026 |
| Aicardi-Goutieres syndrome 6 | 1 | Apr 4, 2024 |
| Aicardi-Goutieres syndrome 9 | 1 | Jun 1, 2026 |
| Al Kaissi syndrome | 2 | Jun 1, 2026 |
| Alagille syndrome due to a JAG1 point mutation | 2 | Sep 1, 2025 |
| Alagille syndrome due to a NOTCH2 point mutation | 4 | Jun 1, 2026 |
| Aland island eye disease | 1 | Nov 1, 2024 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 2 | Apr 1, 2026 |
| Alexander disease | 1 | Apr 4, 2024 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Jul 2, 2025 |
| Alternating hemiplegia of childhood 2 | 1 | May 6, 2024 |
| Alzheimer disease 9 | 1 | Nov 1, 2024 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 | Jul 1, 2026 |
| Amelogenesis imperfecta type 1E | 2 | Jul 1, 2026 |
| Amyotrophic lateral sclerosis type 4 | 1 | Apr 1, 2025 |
| Andersen Tawil syndrome | 2 | Sep 4, 2024 |
| Aneurysm-osteoarthritis syndrome | 3 | Jul 1, 2026 |
| Aniridia 1 | 3 | Aug 1, 2025 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 3 | Apr 1, 2026 |
| Anterior segment dysgenesis 7 | 1 | May 6, 2024 |
| Anterior segment dysgenesis 8 | 1 | Feb 7, 2024 |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 1 | Sep 4, 2024 |
| Aortic aneurysm, familial thoracic 4 | 3 | Jul 1, 2026 |
| Aortic valve disease 1 | 1 | Mar 14, 2024 |
| Aortic valve disease 2 | 4 | Apr 1, 2025 |
| Aortic valve disease 3 | 1 | Nov 1, 2025 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | May 6, 2024 |
| Arrhythmogenic right ventricular dysplasia 12 | 1 | May 1, 2025 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Jul 2, 2025 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | May 16, 2024 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 2 | Feb 7, 2024 |
| Arthrogryposis, distal, type 1B | 1 | Jul 1, 2024 |
| Arthrogryposis, distal, type 2B3 | 1 | Apr 1, 2025 |
| Arthrogryposis, distal, with impaired proprioception and touch | 2 | May 1, 2025 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2 | Jul 1, 2026 |
| Asphyxiating thoracic dystrophy 3 | 1 | Mar 14, 2024 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 1 | Apr 4, 2024 |
| Ateleiotic dwarfism | 1 | May 6, 2024 |
| Atelosteogenesis type I | 2 | May 28, 2024 |
| Atrial fibrillation, familial, 12 | 1 | Mar 14, 2024 |
| Atrial fibrillation, familial, 7 | 1 | Feb 7, 2024 |
| Atrial septal defect 2 | 1 | Apr 4, 2024 |
| Atrial septal defect 7 | 1 | Nov 1, 2024 |
| Atrial septal defect 9 | 1 | May 16, 2024 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 2 | Jul 1, 2026 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 17 | Jul 1, 2026 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 21 | Jul 1, 2026 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 | May 16, 2024 |
| Au-Kline syndrome | 2 | May 1, 2025 |
| Auriculocondylar syndrome 2 | 1 | May 16, 2024 |
| Autism, susceptibility to, X-linked 4 | 1 | May 28, 2024 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 1 | Jun 1, 2025 |
| Autosomal dominant Alport syndrome | 106 | Jul 1, 2026 |
| Autosomal dominant Robinow syndrome 3 | 1 | Sep 4, 2024 |
| Autosomal dominant distal renal tubular acidosis | 4 | Jul 1, 2026 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 22 | Jul 1, 2026 |
| Autosomal dominant hypophosphatemic rickets | 1 | Aug 1, 2024 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Jun 1, 2026 |
| Autosomal dominant isolated somatotropin deficiency | 1 | Nov 1, 2024 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | Nov 1, 2024 |
| Autosomal dominant nonsyndromic hearing loss 11 | 2 | Nov 1, 2025 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | Apr 10, 2024 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Jul 1, 2026 |
| Autosomal dominant nonsyndromic hearing loss 22 | 2 | Jan 1, 2026 |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 | Apr 4, 2024 |
| Autosomal dominant omodysplasia | 2 | May 28, 2024 |
| Autosomal dominant optic atrophy classic form | 2 | Jan 1, 2026 |
| Autosomal dominant osteopetrosis 2 | 1 | May 1, 2025 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 2 | Jul 1, 2026 |
| Autosomal recessive Alport syndrome | 63 | Jul 1, 2026 |
| Autosomal recessive Robinow syndrome | 1 | Apr 10, 2024 |
| Autosomal recessive hypophosphatemic bone disease | 13 | Jul 1, 2026 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Jun 1, 2026 |
| Autosomal recessive nonsyndromic hearing loss 22 | 2 | May 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | May 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 26 | 1 | Apr 4, 2024 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Mar 4, 2025 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | Jun 1, 2026 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Nov 1, 2025 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | Nov 1, 2024 |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 | Nov 1, 2025 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | May 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Apr 4, 2024 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Aug 1, 2024 |
| Autosomal recessive nonsyndromic hearing loss 89 | 2 | May 28, 2024 |
| Autosomal recessive osteopetrosis 1 | 1 | Mar 14, 2024 |
| Autosomal recessive spinocerebellar ataxia 2 | 1 | May 17, 2024 |
| Avascular necrosis of femoral head, primary, 2 | 1 | May 1, 2025 |
| Axenfeld-Rieger syndrome type 1 | 1 | May 16, 2024 |
| BAP1-related tumor predisposition syndrome | 1 | Dec 1, 2024 |
| Baraitser-Winter syndrome 1 | 1 | Mar 14, 2024 |
| Baraitser-winter syndrome 2 | 1 | May 11, 2024 |
| Bardet-Biedl syndrome 10 | 5 | Jul 1, 2026 |
| Bardet-Biedl syndrome 17 | 1 | Mar 14, 2024 |
| Bardet-Biedl syndrome 20 | 1 | Aug 1, 2025 |
| Bardet-Biedl syndrome 7 | 2 | Aug 2, 2024 |
| Bardet-Biedl syndrome 8 | 1 | Aug 26, 2023 |
| Bartter disease type 1 | 4 | Jul 1, 2026 |
| Bartter disease type 2 | 7 | Jul 1, 2026 |
| Bartter disease type 3 | 1 | Jul 1, 2026 |
| Bartter disease type 5 | 1 | Mar 14, 2024 |
| Basal cell nevus syndrome 1 | 2 | Jun 1, 2026 |
| Beck-Fahrner syndrome | 1 | Apr 4, 2024 |
| Becker muscular dystrophy | 1 | Jan 1, 2026 |
| Benign hereditary chorea | 1 | May 6, 2024 |
| Bernard Soulier syndrome | 1 | May 1, 2025 |
| Beta-D-mannosidosis | 1 | May 11, 2024 |
| Bethlem myopathy 1A | 1 | Apr 4, 2024 |
| Bethlem myopathy 2 | 3 | Feb 3, 2026 |
| Birk-Barel syndrome | 1 | Jul 1, 2026 |
| Bleeding disorder, platelet-type, 25 | 1 | Nov 1, 2025 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 3 | Oct 1, 2024 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | May 16, 2024 |
| Bloom syndrome | 1 | Jan 1, 2025 |
| Bohring-Opitz syndrome | 1 | Apr 4, 2024 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Feb 1, 2025 |
| Brachydactyly type B1 | 2 | May 1, 2026 |
| Brachydactyly type E2 | 1 | Aug 1, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Jul 1, 2026 |
| Brain small vessel disease 2A, autosomal dominant | 1 | Jan 1, 2025 |
| Branchiootic syndrome 3 | 3 | Nov 1, 2025 |
| Branchiootorenal syndrome 1 | 4 | Apr 1, 2026 |
| Branchiootorenal syndrome 2 | 1 | Apr 10, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 5 | Nov 1, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 4 | Jul 1, 2026 |
| Brunner syndrome | 1 | May 28, 2024 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | Jul 2, 2025 |
| CBL-related disorder | 2 | Jul 1, 2026 |
| CHARGE syndrome | 5 | May 28, 2024 |
| CHD7-related CHARGE syndrome | 2 | Jul 1, 2026 |
| CHEK2-related cancer predisposition | 2 | Nov 1, 2024 |
| CODAS syndrome | 1 | May 11, 2024 |
| CTCF-related neurodevelopmental disorder | 3 | Nov 1, 2025 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Apr 10, 2024 |
| Camptomelic dysplasia | 1 | Jul 1, 2026 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Aug 1, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 3 | Mar 1, 2026 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Oct 2, 2025 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Apr 10, 2024 |
| Cardiac-urogenital syndrome | 1 | Apr 4, 2024 |
| Cardiofaciocutaneous syndrome 3 | 2 | Aug 2, 2024 |
| Cardiofaciocutaneous syndrome 4 | 1 | Mar 14, 2024 |
| Cardiomyopathy, dilated, 2D | 1 | Apr 4, 2024 |
| Cardiomyopathy, dilated, 2F | 1 | Jan 1, 2025 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Jan 1, 2025 |
| Cataract 15 multiple types | 1 | Mar 14, 2024 |
| Cataract 3 multiple types | 1 | Feb 1, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 9 | Jul 1, 2026 |
| Cenani-Lenz syndactyly syndrome | 2 | Jul 1, 2026 |
| Central core myopathy | 5 | Jul 2, 2025 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Apr 4, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | May 1, 2025 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | May 18, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 | Jul 1, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | May 18, 2024 |
| Char syndrome | 1 | Jun 1, 2026 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Nov 1, 2025 |
| Charcot-Marie-Tooth disease axonal type 2N | 3 | Jun 1, 2025 |
| Charcot-Marie-Tooth disease axonal type 2O | 3 | Dec 1, 2025 |
| Charcot-Marie-Tooth disease axonal type 2T | 5 | Jul 1, 2026 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Oct 1, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | May 16, 2024 |
| Charcot-Marie-Tooth disease type 2A1 | 1 | Jun 1, 2026 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | May 1, 2025 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | May 17, 2024 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 2 | Mar 1, 2026 |
| Charcot-Marie-tooth disease, axonal, type 2DD | 1 | Apr 4, 2024 |
| Childhood apraxia of speech | 1 | Mar 1, 2026 |
| Childhood onset GLUT1 deficiency syndrome 2 | 2 | Jan 1, 2026 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 | May 6, 2024 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | May 28, 2024 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 2 | Feb 1, 2025 |
| Cholestasis, progressive familial intrahepatic, 9 | 1 | Jun 1, 2026 |
| Chopra-Amiel-Gordon syndrome | 5 | Jul 1, 2026 |
| Choroideremia | 1 | Apr 4, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Jul 1, 2026 |
| Ciliary dyskinesia, primary, 43 | 1 | Apr 4, 2024 |
| Clark-Baraitser syndrome | 3 | May 28, 2024 |
| Clubfoot | 1 | Apr 4, 2024 |
| Cobblestone lissencephaly without muscular or ocular involvement | 2 | Jun 1, 2026 |
| Coenzyme Q10 deficiency, primary, 1 | 2 | Jul 1, 2026 |
| Coffin-Lowry syndrome | 2 | May 17, 2024 |
| Coffin-Siris syndrome 1 | 2 | Jul 1, 2026 |
| Coffin-Siris syndrome 11 | 1 | Dec 1, 2024 |
| Coffin-Siris syndrome 12 | 1 | Mar 14, 2024 |
| Coffin-Siris syndrome 5 | 2 | Jul 1, 2026 |
| Coffin-Siris syndrome 6 | 2 | Apr 1, 2025 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | May 20, 2024 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Nov 1, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Apr 4, 2024 |
| Combined oxidative phosphorylation defect type 11 | 1 | Apr 1, 2026 |
| Combined oxidative phosphorylation defect type 30 | 1 | Jan 1, 2025 |
| Complement factor b deficiency | 1 | Apr 4, 2024 |
| Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | 1 | Sep 4, 2024 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Aug 2, 2024 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | May 11, 2024 |
| Cone dystrophy with supernormal rod response | 1 | Jul 1, 2026 |
| Cone-rod dystrophy 11 | 1 | May 17, 2024 |
| Cone-rod dystrophy 2 | 1 | Jul 1, 2026 |
| Cone-rod dystrophy and hearing loss 1 | 1 | Jul 1, 2026 |
| Congenital adrenal hypoplasia, X-linked | 1 | Apr 4, 2024 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Apr 10, 2024 |
| Congenital anomalies of kidney and urinary tract 2 | 1 | Nov 1, 2025 |
| Congenital anomalies of kidney and urinary tract 3 | 2 | Jul 1, 2026 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 5 | Jul 1, 2026 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 | Apr 4, 2024 |
| Congenital contractural arachnodactyly | 1 | May 16, 2024 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | May 11, 2024 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 1 | Apr 4, 2024 |
| Congenital dyserythropoietic anemia, type II | 2 | Jul 1, 2026 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | May 6, 2024 |
| Congenital generalized lipodystrophy type 1 | 1 | Aug 2, 2024 |
| Congenital heart defects and ectodermal dysplasia | 2 | Feb 3, 2026 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | May 16, 2024 |
| Congenital heart defects, multiple types, 2 | 1 | Nov 1, 2025 |
| Congenital heart defects, multiple types, 4 | 1 | Apr 1, 2025 |
| Congenital hyperammonemia, type I | 1 | Feb 1, 2025 |
| Congenital muscular hypertrophy-cerebral syndrome | 4 | Jan 1, 2026 |
| Congenital myasthenic syndrome 10 | 1 | Oct 1, 2024 |
| Congenital myasthenic syndrome 2A | 3 | Dec 1, 2024 |
| Congenital myopathy 4A, autosomal dominant | 1 | Apr 10, 2024 |
| Congenital myotonia, autosomal dominant form | 1 | Apr 4, 2024 |
| Congenital stationary night blindness autosomal dominant 2 | 1 | Apr 10, 2024 |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 | Dec 1, 2025 |
| Cornelia de Lange syndrome 1 | 5 | Jul 1, 2026 |
| Cornelia de Lange syndrome 3 | 3 | May 16, 2024 |
| Cornelia de Lange syndrome 4 | 1 | Apr 4, 2024 |
| Cornelia de Lange syndrome 5 | 1 | Apr 4, 2024 |
| Corticosterone 18-monooxygenase deficiency | 2 | Jul 1, 2026 |
| Cowden syndrome 1 | 1 | Apr 4, 2024 |
| Coxopodopatellar syndrome | 1 | Mar 14, 2024 |
| Cranioectodermal dysplasia 1 | 1 | Apr 4, 2024 |
| Craniolenticulosutural dysplasia | 1 | Jul 1, 2026 |
| Craniosynostosis 2 | 1 | May 6, 2024 |
| Craniosynostosis 7 | 1 | Mar 14, 2024 |
| Creatine transporter deficiency | 3 | Aug 1, 2025 |
| Crouzon syndrome | 1 | Jul 1, 2026 |
| Cystinuria | 5 | Jul 1, 2026 |
| DYRK1A-related intellectual disability syndrome | 2 | May 11, 2024 |
| Deficiency of alpha-mannosidase | 1 | Apr 10, 2024 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Apr 1, 2026 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 2 | Jul 2, 2025 |
| Delpire-McNeill syndrome | 4 | May 1, 2025 |
| Dent disease type 1 | 19 | Jul 1, 2026 |
| Dent disease type 2 | 1 | Apr 4, 2024 |
| Desbuquois dysplasia 1 | 1 | May 11, 2024 |
| Developmental and epileptic encephalopathy 103 | 1 | May 6, 2024 |
| Developmental and epileptic encephalopathy 108 | 1 | Feb 7, 2024 |
| Developmental and epileptic encephalopathy 91 | 1 | May 18, 2024 |
| Developmental and epileptic encephalopathy 92 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy 94 | 3 | Oct 1, 2024 |
| Developmental and epileptic encephalopathy 99 | 1 | Apr 4, 2024 |
| Developmental and epileptic encephalopathy, 11 | 5 | Aug 2, 2024 |
| Developmental and epileptic encephalopathy, 13 | 3 | Feb 1, 2025 |
| Developmental and epileptic encephalopathy, 14 | 1 | May 6, 2024 |
| Developmental and epileptic encephalopathy, 17 | 1 | Jul 2, 2025 |
| Developmental and epileptic encephalopathy, 2 | 1 | Sep 4, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | May 6, 2024 |
| Developmental and epileptic encephalopathy, 26 | 2 | Jul 1, 2026 |
| Developmental and epileptic encephalopathy, 27 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 31A | 2 | Jun 1, 2026 |
| Developmental and epileptic encephalopathy, 32 | 3 | Nov 1, 2025 |
| Developmental and epileptic encephalopathy, 33 | 1 | May 11, 2024 |
| Developmental and epileptic encephalopathy, 4 | 2 | May 11, 2024 |
| Developmental and epileptic encephalopathy, 42 | 2 | Dec 1, 2025 |
| Developmental and epileptic encephalopathy, 43 | 2 | Jun 1, 2025 |
| Developmental and epileptic encephalopathy, 45 | 1 | May 17, 2024 |
| Developmental and epileptic encephalopathy, 47 | 1 | Dec 1, 2025 |
| Developmental and epileptic encephalopathy, 5 | 4 | Mar 1, 2026 |
| Developmental and epileptic encephalopathy, 58 | 1 | Apr 1, 2025 |
| Developmental and epileptic encephalopathy, 62 | 2 | May 17, 2024 |
| Developmental and epileptic encephalopathy, 65 | 1 | Aug 2, 2024 |
| Developmental and epileptic encephalopathy, 67 | 1 | Mar 4, 2025 |
| Developmental and epileptic encephalopathy, 69 | 6 | Feb 3, 2026 |
| Developmental and epileptic encephalopathy, 7 | 1 | May 16, 2024 |
| Developmental and epileptic encephalopathy, 8 | 1 | Aug 1, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 3 | Apr 1, 2026 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 3 | Jul 1, 2026 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 6 | Oct 2, 2025 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 2 | Apr 10, 2024 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | May 11, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Apr 10, 2024 |
| Diabetes insipidus, nephrogenic, X-linked | 6 | Jul 1, 2026 |
| Diabetes insipidus, nephrogenic, autosomal | 2 | Jul 1, 2026 |
| Diabetes mellitus, permanent neonatal 3 | 1 | May 18, 2024 |
| Diabetes mellitus, transient neonatal, 2 | 2 | Jul 1, 2026 |
| Diamond-Blackfan anemia 5 | 1 | Apr 4, 2024 |
| Diaphragmatic hernia 4, with cardiovascular defects | 2 | May 11, 2024 |
| Diets-Jongmans syndrome | 1 | Apr 4, 2024 |
| Dilated cardiomyopathy 1A | 1 | Jul 1, 2026 |
| Dilated cardiomyopathy 1AA | 2 | Nov 1, 2025 |
| Dilated cardiomyopathy 1BB | 1 | May 1, 2026 |
| Dilated cardiomyopathy 1DD | 1 | Feb 1, 2025 |
| Dilated cardiomyopathy 1EE | 1 | Sep 4, 2024 |
| Dilated cardiomyopathy 1FF | 1 | May 6, 2024 |
| Dilated cardiomyopathy 1G | 13 | Jul 1, 2026 |
| Dilated cardiomyopathy 1HH | 1 | May 17, 2024 |
| Dilated cardiomyopathy 1KK | 2 | Nov 1, 2025 |
| Dilated cardiomyopathy 1O | 1 | Mar 14, 2024 |
| Dilated cardiomyopathy 1S | 1 | Apr 4, 2024 |
| Dilated cardiomyopathy 1Y | 1 | Nov 1, 2024 |
| Distichiasis-lymphedema syndrome | 1 | May 28, 2024 |
| Doyne honeycomb retinal dystrophy | 1 | Jul 1, 2026 |
| Drash syndrome | 1 | Jul 2, 2025 |
| Duane retraction syndrome 3 with or without deafness | 2 | Jun 1, 2026 |
| Duane-radial ray syndrome | 2 | Aug 2, 2024 |
| Dyschromatosis universalis hereditaria 3 | 1 | Apr 4, 2024 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | May 6, 2024 |
| Dystonia 12 | 1 | Apr 4, 2024 |
| Dystonia 25 | 1 | Jun 1, 2026 |
| Dystonia 28, childhood-onset | 1 | Aug 26, 2023 |
| Dystonia 34, myoclonic | 1 | Jun 1, 2026 |
| Ectopia lentis et pupillae | 2 | Jul 1, 2026 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 3 | Jul 1, 2026 |
| Ehlers-Danlos syndrome, arthrochalasia type | 2 | Jun 1, 2026 |
| Ehlers-Danlos syndrome, classic type, 1 | 5 | Dec 1, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | May 11, 2024 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 | Apr 10, 2024 |
| Ehlers-Danlos syndrome, type 4 | 1 | Aug 1, 2025 |
| Elsahy-Waters syndrome | 1 | Apr 4, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 4 | Apr 1, 2026 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Apr 4, 2024 |
| Encephalopathy due to GLUT1 deficiency | 1 | May 1, 2025 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Apr 4, 2024 |
| Epidermolysis bullosa simplex 1C, localized | 1 | Jul 1, 2026 |
| Epidermolytic palmoplantar keratoderma, 1 | 1 | Jun 1, 2026 |
| Epilepsy with myoclonic atonic seizures | 2 | Jul 1, 2026 |
| Epilepsy, familial focal, with variable foci 1 | 1 | May 16, 2024 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Apr 4, 2024 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Dec 1, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Jun 1, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 17 | 2 | May 20, 2024 |
| Epiphyseal dysplasia, multiple, 6 | 2 | Jun 1, 2026 |
| Episodic ataxia type 1 | 2 | Oct 2, 2025 |
| Episodic ataxia type 2 | 3 | Jan 1, 2025 |
| Episodic ataxia type 6 | 1 | Apr 4, 2024 |
| Episodic pain syndrome, familial, 2 | 2 | Jul 1, 2026 |
| Euthyroid goiter | 1 | Feb 7, 2024 |
| Exudative vitreoretinopathy 4 | 1 | Apr 1, 2025 |
| FG syndrome 4 | 1 | Apr 10, 2024 |
| FRAXE | 1 | Sep 1, 2025 |
| Fabry disease | 3 | Jul 1, 2026 |
| Factor I deficiency | 1 | May 16, 2024 |
| Factor XII deficiency disease | 1 | Apr 4, 2024 |
| Familial Mediterranean fever | 1 | Jul 1, 2026 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 6 | Jul 1, 2026 |
| Familial adenomatous polyposis 1 | 1 | May 16, 2024 |
| Familial cancer of breast | 2 | Nov 1, 2024 |
| Familial cold autoinflammatory syndrome 2 | 2 | Sep 4, 2024 |
| Familial encephalopathy with neuroserpin inclusion bodies | 1 | Aug 1, 2025 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 | Apr 1, 2026 |
| Familial hyperaldosteronism type II | 1 | May 28, 2024 |
| Familial hypobetalipoproteinemia 1 | 1 | May 18, 2024 |
| Familial hypocalciuric hypercalcemia 1 | 4 | Jul 1, 2026 |
| Familial hypokalemia-hypomagnesemia | 23 | Jul 1, 2026 |
| Familial idiopathic hypercalciuria | 3 | Apr 1, 2025 |
| Familial juvenile hyperuricemic nephropathy type 1 | 19 | Jul 1, 2026 |
| Familial juvenile hyperuricemic nephropathy type 2 | 6 | May 1, 2026 |
| Familial renal glucosuria | 39 | Jul 1, 2026 |
| Familial type 3 hyperlipoproteinemia | 1 | Apr 4, 2024 |
| Familial type 5 hyperlipoproteinemia | 1 | May 11, 2024 |
| Fanconi renotubular syndrome 1 | 2 | Jul 1, 2026 |
| Farber lipogranulomatosis | 2 | May 6, 2024 |
| Finnish congenital nephrotic syndrome | 4 | Jul 1, 2026 |
| Focal segmental glomerulosclerosis 1 | 12 | Jun 1, 2026 |
| Focal segmental glomerulosclerosis 2 | 16 | Jul 1, 2026 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 | Apr 4, 2024 |
| Focal segmental glomerulosclerosis 5 | 9 | May 1, 2026 |
| Focal segmental glomerulosclerosis 6 | 1 | Mar 14, 2024 |
| Focal segmental glomerulosclerosis 7 | 11 | Jul 1, 2026 |
| Focal segmental glomerulosclerosis 8 | 3 | Jan 1, 2026 |
| Focal segmental glomerulosclerosis 9 | 3 | Jul 1, 2026 |
| Fragile X syndrome | 1 | Feb 7, 2024 |
| Fraser syndrome 2 | 2 | Jul 2, 2025 |
| GNE myopathy | 1 | Jul 1, 2026 |
| Galloway-Mowat syndrome 2, X-linked | 1 | Jun 1, 2026 |
| Galloway-Mowat syndrome 7 | 1 | Jul 1, 2026 |
| Generalized dominant dystrophic epidermolysis bullosa | 2 | Jul 1, 2026 |
| Genitopatellar syndrome | 1 | Nov 1, 2025 |
| Genitourinary and/or brain malformation syndrome | 1 | May 16, 2024 |
| Glaucoma 3A | 1 | May 16, 2024 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 1 | Nov 1, 2025 |
| Glomerulopathy with fibronectin deposits 2 | 1 | Aug 1, 2024 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Mar 14, 2024 |
| Glycogen storage disease IXd | 1 | Apr 4, 2024 |
| Glycogen storage disease type III | 1 | May 18, 2024 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 2 | Dec 1, 2024 |
| Gordon syndrome | 2 | May 17, 2024 |
| Greig cephalopolysyndactyly syndrome | 2 | Aug 1, 2024 |
| Growth delay due to insulin-like growth factor I resistance | 3 | Jan 1, 2025 |
| HELIX syndrome | 2 | Sep 4, 2024 |
| Hao-Fountain syndrome due to USP7 mutation | 3 | Feb 3, 2026 |
| Hearing loss, X-linked 1 | 1 | Apr 4, 2024 |
| Hearing loss, autosomal dominant 73 | 1 | Apr 1, 2025 |
| Hearing loss, autosomal dominant 76 | 1 | Apr 4, 2024 |
| Hearing loss, autosomal dominant 82 | 1 | Jun 1, 2025 |
| Hearing loss, autosomal recessive 57 | 2 | Apr 4, 2024 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 22 | Jul 1, 2026 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | May 16, 2024 |
| Hereditary coproporphyria | 1 | May 1, 2025 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Mar 14, 2024 |
| Hereditary lymphedema type I | 2 | Apr 1, 2026 |
| Hereditary pancreatitis | 1 | May 11, 2024 |
| Hereditary spastic paraplegia 10 | 2 | Jun 1, 2026 |
| Hereditary spastic paraplegia 2 | 2 | May 1, 2025 |
| Hereditary spastic paraplegia 54 | 3 | Apr 10, 2024 |
| Hereditary spastic paraplegia 7 | 3 | Jun 1, 2026 |
| Hereditary spastic paraplegia 72 | 1 | May 1, 2026 |
| Hereditary spherocytosis type 1 | 1 | Oct 2, 2025 |
| Hereditary xanthinuria type 1 | 3 | Jul 1, 2026 |
| Hermansky-Pudlak syndrome 11 | 1 | May 16, 2024 |
| Heterotaxy, visceral, 10, autosomal, with male infertility | 1 | Jan 1, 2026 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 1 | Dec 1, 2025 |
| Heterotopia, periventricular, X-linked dominant | 1 | Jun 1, 2026 |
| Heyn-Sproul-Jackson syndrome | 1 | Apr 4, 2024 |
| Hirschsprung disease, susceptibility to, 1 | 3 | Aug 1, 2025 |
| Holoprosencephaly 11 | 1 | Jul 1, 2026 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Mar 14, 2024 |
| Holoprosencephaly 3 | 1 | Aug 26, 2023 |
| Holoprosencephaly 7 | 2 | May 11, 2024 |
| Holt-Oram syndrome | 1 | May 18, 2024 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 | Aug 1, 2024 |
| Houge-Janssens syndrome 2 | 2 | Oct 2, 2025 |
| Hydatidiform mole, recurrent, 3 | 1 | May 1, 2026 |
| Hyper-IgM syndrome type 3 | 1 | Jul 1, 2026 |
| Hyperaldosteronism, familial, type IV | 1 | Nov 1, 2024 |
| Hypercalcemia, infantile, 1 | 7 | Jul 1, 2026 |
| Hypercalcemia, infantile, 2 | 3 | Jul 1, 2026 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | May 28, 2024 |
| Hypercholesterolemia, familial, 1 | 7 | Jul 1, 2026 |
| Hypercholesterolemia, familial, 4 | 1 | Nov 1, 2025 |
| Hyperekplexia 1 | 1 | Aug 1, 2024 |
| Hyperekplexia 3 | 1 | Nov 1, 2025 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 1 | Jul 2, 2025 |
| Hyperinsulinemic hypoglycemia, familial, 3 | 1 | Jul 1, 2026 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | May 18, 2024 |
| Hyperlipidemia, familial combined, LPL related | 3 | Nov 1, 2025 |
| Hyperlipoproteinemia, type I | 1 | Jul 2, 2025 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Apr 4, 2024 |
| Hypertrophic cardiomyopathy 1 | 2 | Jul 1, 2026 |
| Hypertrophic cardiomyopathy 11 | 2 | Apr 10, 2024 |
| Hypertrophic cardiomyopathy 14 | 2 | Oct 1, 2024 |
| Hypertrophic cardiomyopathy 26 | 7 | Jul 1, 2026 |
| Hypertrophic cardiomyopathy 4 | 3 | Jul 1, 2026 |
| Hypertrophic cardiomyopathy 6 | 1 | Oct 1, 2024 |
| Hypertrophic cardiomyopathy 8 | 1 | Dec 1, 2025 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 1 | Jan 1, 2026 |
| Hyperuricemic nephropathy, familial juvenile type 4 | 3 | Jul 1, 2026 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | Mar 14, 2024 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Dec 1, 2024 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Apr 10, 2024 |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 1 | May 11, 2024 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Jul 1, 2026 |
| Hypokalemic tubulopathy and deafness | 2 | Apr 10, 2024 |
| Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | 1 | Feb 7, 2024 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 2 | Apr 1, 2025 |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 2 | Jul 1, 2026 |
| Hypomyelinating leukodystrophy 6 | 1 | Oct 1, 2024 |
| Hypoparathyroidism, deafness, renal disease syndrome | 6 | Jul 1, 2026 |
| Hypoparathyroidism, familial isolated, 2 | 1 | May 16, 2024 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 8 | Jul 1, 2026 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 1 | May 16, 2024 |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 1 | Jun 1, 2026 |
| Hypothyroidism, congenital, nongoitrous, 2 | 2 | Jul 1, 2026 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Jul 1, 2026 |
| Hypotrichosis 6 | 1 | Sep 1, 2025 |
| Hypouricemia, renal, 2 | 3 | Jun 1, 2026 |
| Ichthyosis vulgaris | 2 | May 1, 2025 |
| Imagawa-Matsumoto syndrome | 1 | May 11, 2024 |
| Imerslund-Grasbeck syndrome type 1 | 8 | Oct 2, 2025 |
| Imerslund-Grasbeck syndrome type 2 | 1 | Apr 4, 2024 |
| Immunodeficiency 36 with lymphoproliferation | 1 | Feb 3, 2026 |
| Immunodeficiency 77 | 1 | Jun 1, 2025 |
| Immunodeficiency 95 | 1 | Mar 4, 2025 |
| Immunodeficiency, common variable, 7 | 3 | Mar 4, 2025 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 3 | Oct 1, 2024 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Feb 3, 2026 |
| Infantile liver failure syndrome 1 | 1 | Feb 7, 2024 |
| Infantile nephronophthisis | 1 | Oct 2, 2025 |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 1 | Apr 1, 2026 |
| Inflammatory skin and bowel disease, neonatal, 2 | 1 | May 18, 2024 |
| Intellectual developmental disorder 59 | 1 | May 16, 2024 |
| Intellectual developmental disorder 61 | 3 | May 6, 2024 |
| Intellectual developmental disorder 62 | 2 | Nov 1, 2025 |
| Intellectual developmental disorder with autism and macrocephaly | 6 | Jul 1, 2026 |
| Intellectual developmental disorder with autism and speech delay | 2 | Apr 1, 2026 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 2 | Nov 1, 2025 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Dec 1, 2024 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Apr 4, 2024 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 2 | May 17, 2024 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 | Apr 4, 2024 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 6 | Dec 1, 2025 |
| Intellectual developmental disorder with seizures and language delay | 1 | Apr 4, 2024 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Apr 10, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 1 | May 1, 2025 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | May 17, 2024 |
| Intellectual developmental disorder, autosomal dominant 65 | 2 | Jul 1, 2026 |
| Intellectual developmental disorder, autosomal dominant 66 | 4 | May 1, 2026 |
| Intellectual developmental disorder, autosomal dominant 73 | 2 | May 16, 2024 |
| Intellectual disability, X-linked 1 | 1 | Aug 2, 2024 |
| Intellectual disability, X-linked 102 | 3 | Mar 1, 2026 |
| Intellectual disability, X-linked 103 | 1 | Apr 4, 2024 |
| Intellectual disability, X-linked 104 | 1 | May 28, 2024 |
| Intellectual disability, X-linked 106 | 2 | Feb 1, 2025 |
| Intellectual disability, X-linked 30 | 2 | May 16, 2024 |
| Intellectual disability, X-linked 99 | 2 | Jan 1, 2026 |
| Intellectual disability, X-linked syndromic, Turner type | 3 | Jul 1, 2026 |
| Intellectual disability, X-linked, syndromic 33 | 3 | May 16, 2024 |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 1 | May 18, 2024 |
| Intellectual disability, autosomal dominant 1 | 1 | May 16, 2024 |
| Intellectual disability, autosomal dominant 13 | 2 | Jul 1, 2026 |
| Intellectual disability, autosomal dominant 14 | 1 | Jan 1, 2026 |
| Intellectual disability, autosomal dominant 15 | 2 | Jan 1, 2025 |
| Intellectual disability, autosomal dominant 24 | 1 | Dec 1, 2024 |
| Intellectual disability, autosomal dominant 29 | 1 | Aug 1, 2024 |
| Intellectual disability, autosomal dominant 30 | 1 | Apr 10, 2024 |
| Intellectual disability, autosomal dominant 39 | 1 | Jul 1, 2026 |
| Intellectual disability, autosomal dominant 41 | 2 | May 28, 2024 |
| Intellectual disability, autosomal dominant 43 | 1 | May 17, 2024 |
| Intellectual disability, autosomal dominant 45 | 11 | Sep 1, 2025 |
| Intellectual disability, autosomal dominant 46 | 2 | Sep 1, 2025 |
| Intellectual disability, autosomal dominant 50 | 2 | Nov 1, 2025 |
| Intellectual disability, autosomal dominant 51 | 1 | Oct 2, 2025 |
| Intellectual disability, autosomal dominant 53 | 1 | Nov 1, 2025 |
| Intellectual disability, autosomal dominant 54 | 1 | Nov 1, 2025 |
| Intellectual disability, autosomal dominant 55, with seizures | 2 | May 16, 2024 |
| Intellectual disability, autosomal dominant 56 | 1 | May 28, 2024 |
| Intellectual disability, autosomal dominant 57 | 4 | Apr 1, 2026 |
| Intellectual disability, autosomal dominant 58 | 1 | Jan 1, 2025 |
| Intellectual disability, autosomal dominant 6 | 5 | Jul 1, 2026 |
| Intellectual disability, autosomal recessive 27 | 1 | Jul 1, 2026 |
| Intellectual disability, autosomal recessive 3 | 1 | Feb 7, 2024 |
| Intellectual disability, autosomal recessive 65 | 1 | Sep 1, 2025 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Nov 1, 2024 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2 | Aug 1, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | May 11, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Aug 26, 2023 |
| Joubert syndrome 14 | 1 | May 16, 2024 |
| Joubert syndrome 3 | 1 | Jun 1, 2026 |
| Joubert syndrome 32 | 1 | May 17, 2024 |
| Juvenile polyposis syndrome | 1 | Aug 1, 2024 |
| Juvenile retinoschisis | 1 | Oct 1, 2024 |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 1 | May 18, 2024 |
| KBG syndrome | 5 | Jul 1, 2026 |
| Kabuki syndrome 1 | 10 | Jul 1, 2026 |
| Keratosis follicularis | 2 | Apr 4, 2024 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Nov 1, 2025 |
| Kleefstra syndrome 1 | 2 | Oct 2, 2025 |
| Kleefstra syndrome 2 | 3 | Jun 1, 2025 |
| Kniest dysplasia | 1 | Apr 1, 2026 |
| Koolen-de Vries syndrome | 2 | May 18, 2024 |
| LADD syndrome 1 | 1 | Apr 4, 2024 |
| Lamb-Shaffer syndrome | 1 | Feb 7, 2024 |
| Lambdoidal craniosynostosis | 1 | Apr 4, 2024 |
| Landau-Kleffner syndrome | 2 | Mar 1, 2026 |
| Larsen syndrome | 1 | Apr 1, 2026 |
| Leber congenital amaurosis 1 | 1 | Aug 1, 2024 |
| Left ventricular noncompaction 7 | 4 | Jul 1, 2026 |
| Left ventricular noncompaction 8 | 1 | Apr 1, 2026 |
| Leprechaunism syndrome | 1 | Oct 1, 2024 |
| Lessel-Kreienkamp syndrome | 4 | Jul 1, 2026 |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 1 | May 11, 2024 |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 1 | May 20, 2024 |
| Leukodystrophy, hypomyelinating, 24 | 1 | Dec 1, 2025 |
| Leukodystrophy, hypomyelinating, 25 | 1 | Jul 1, 2026 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 2 | Jul 1, 2026 |
| Leydig cell agenesis | 1 | Apr 10, 2024 |
| Liddle syndrome 1 | 2 | Jul 1, 2026 |
| Liddle syndrome 2 | 1 | Jul 1, 2026 |
| Linear skin defects with multiple congenital anomalies 3 | 1 | Sep 1, 2025 |
| Lissencephaly 6 with microcephaly | 2 | May 28, 2024 |
| Lissencephaly 8 | 2 | Jul 1, 2026 |
| Lissencephaly 9 with complex brainstem malformation | 5 | Jul 1, 2026 |
| Lissencephaly due to LIS1 mutation | 1 | May 6, 2024 |
| Loeys-Dietz syndrome 2 | 1 | Apr 1, 2026 |
| Long QT syndrome 1 | 2 | Jul 1, 2026 |
| Long QT syndrome 11 | 1 | Mar 4, 2025 |
| Long QT syndrome 13 | 1 | Apr 1, 2026 |
| Long QT syndrome 2 | 3 | Nov 1, 2024 |
| Low phospholipid associated cholelithiasis | 1 | Aug 1, 2024 |
| Lowe syndrome | 1 | May 28, 2024 |
| Luscan-Lumish syndrome | 1 | May 16, 2024 |
| Lymphatic malformation 9 | 1 | Sep 1, 2025 |
| Lynch syndrome 1 | 7 | Jul 1, 2026 |
| Lynch syndrome 4 | 2 | Jun 1, 2026 |
| Lynch syndrome 5 | 3 | Jul 1, 2026 |
| MGAT2-congenital disorder of glycosylation | 2 | Mar 14, 2024 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Feb 7, 2024 |
| Macrocephaly-autism syndrome | 1 | Jul 1, 2026 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Apr 10, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 21 | Jul 1, 2026 |
| Macular dystrophy with central cone involvement | 1 | Apr 10, 2024 |
| Malan overgrowth syndrome | 2 | Apr 1, 2026 |
| Malignant hyperthermia, susceptibility to, 1 | 2 | Feb 1, 2025 |
| Mandibulofacial dysostosis with alopecia | 1 | May 20, 2024 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | Apr 4, 2024 |
| Marfan syndrome | 14 | Jul 1, 2026 |
| Marshall syndrome | 1 | May 17, 2024 |
| Marshall-Smith syndrome | 1 | May 11, 2024 |
| Maturity-onset diabetes of the young type 1 | 6 | Jul 1, 2026 |
| Maturity-onset diabetes of the young type 10 | 1 | Jul 1, 2026 |
| Maturity-onset diabetes of the young type 13 | 3 | Jul 1, 2026 |
| Maturity-onset diabetes of the young type 2 | 11 | Jul 1, 2026 |
| Maturity-onset diabetes of the young type 3 | 4 | Jul 1, 2026 |
| Maturity-onset diabetes of the young type 4 | 1 | Nov 1, 2025 |
| Maturity-onset diabetes of the young type 6 | 1 | Jan 1, 2026 |
| Meckel syndrome, type 5 | 1 | Apr 4, 2024 |
| Meckel syndrome, type 6 | 1 | May 11, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | May 17, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Apr 4, 2024 |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 1 | Mar 4, 2025 |
| Merosin deficient congenital muscular dystrophy | 2 | Mar 1, 2026 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Nov 1, 2025 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Nov 1, 2025 |
| Microcephaly 18, primary, autosomal dominant | 4 | Feb 1, 2025 |
| Microcephaly 27, primary, autosomal dominant | 1 | Apr 4, 2024 |
| Microcephaly, seizures, and developmental delay | 2 | Jul 1, 2026 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 10 | Apr 1, 2025 |
| Microphthalmia with brain and digit anomalies | 2 | Nov 1, 2024 |
| Migraine, familial hemiplegic, 3 | 1 | Jul 2, 2025 |
| Mitochondrial DNA depletion syndrome 8a | 1 | Apr 10, 2024 |
| Mitochondrial complex I deficiency, nuclear type 5 | 1 | Jan 1, 2026 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | 1 | Jul 2, 2025 |
| Mowat-Wilson syndrome | 2 | May 16, 2024 |
| Mucolipidosis type IV | 1 | May 16, 2024 |
| Mucopolysaccharidosis type 6 | 1 | Nov 1, 2024 |
| Mucopolysaccharidosis type 7 | 2 | May 28, 2024 |
| Mucopolysaccharidosis, MPS-II | 1 | Aug 1, 2025 |
| Mucopolysaccharidosis, MPS-IV-A | 2 | Jul 1, 2026 |
| Mullegama-Klein-Martinez syndrome | 1 | May 1, 2025 |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 2 | Oct 2, 2025 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Apr 4, 2024 |
| Multiple endocrine neoplasia, type 1 | 2 | Sep 4, 2024 |
| Multiple epiphyseal dysplasia type 1 | 2 | Jul 1, 2026 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Mar 1, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 | Jun 1, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 | Jul 1, 2026 |
| Myopathy, centronuclear, 5 | 1 | Feb 7, 2024 |
| Myopathy, congenital, with tremor | 1 | May 1, 2025 |
| Myopia 27 | 1 | May 11, 2024 |
| NEK9-related lethal skeletal dysplasia | 2 | Feb 7, 2024 |
| Nail-patella-like renal disease | 5 | Dec 1, 2024 |
| Nemaline myopathy 2 | 1 | Jan 1, 2025 |
| Nemaline myopathy 5 | 1 | May 17, 2024 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Oct 2, 2025 |
| Nephrolithiasis susceptibility caused by SLC26A1 | 1 | May 17, 2024 |
| Nephronophthisis 1 | 2 | Mar 4, 2025 |
| Nephronophthisis 11 | 1 | May 17, 2024 |
| Nephronophthisis 12 | 1 | May 18, 2024 |
| Nephronophthisis 13 | 1 | Dec 1, 2025 |
| Nephronophthisis 20 | 2 | Sep 1, 2025 |
| Nephronophthisis 3 | 4 | Jul 1, 2026 |
| Nephronophthisis 4 | 7 | Jul 1, 2026 |
| Nephrotic syndrome 14 | 1 | Apr 4, 2024 |
| Nephrotic syndrome, IIa 26 | 2 | Aug 2, 2024 |
| Nephrotic syndrome, type 12 | 4 | Jul 1, 2026 |
| Nephrotic syndrome, type 2 | 3 | Jun 1, 2026 |
| Nephrotic syndrome, type 20 | 3 | May 1, 2025 |
| Nephrotic syndrome, type 3 | 5 | Jul 1, 2026 |
| Nephrotic syndrome, type 4 | 8 | Jul 1, 2026 |
| Netherton syndrome | 1 | Mar 1, 2026 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 2 | May 16, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Feb 1, 2025 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 3 | Aug 1, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 1 | Apr 4, 2024 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 3 | Feb 1, 2025 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 3 | Mar 1, 2026 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 2 | Apr 1, 2026 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 3 | Jan 1, 2026 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 1 | Dec 1, 2025 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | May 16, 2024 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Nov 1, 2025 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 2 | Jul 1, 2026 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | May 20, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2 | Nov 1, 2025 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | May 16, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Apr 1, 2026 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 2 | Nov 1, 2025 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 3 | Nov 1, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 2 | Jun 1, 2026 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 1 | Feb 3, 2026 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Oct 1, 2024 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Aug 2, 2024 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | Jun 1, 2026 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 3 | Mar 1, 2026 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Feb 7, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 3 | Jul 1, 2026 |
| Neurofibromatosis, type 1 | 8 | Apr 1, 2025 |
| Neurohypophyseal diabetes insipidus | 1 | May 16, 2024 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 2 | Jul 1, 2026 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 | Apr 1, 2025 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 1 | May 1, 2026 |
| Neuropathy, hereditary sensory, type 2C | 2 | Jul 1, 2026 |
| Nicolaides-Baraitser syndrome | 3 | May 16, 2024 |
| Nonsyndromic congenital nail disorder 4 | 2 | Aug 2, 2024 |
| Noonan syndrome 1 | 2 | Jul 1, 2026 |
| Noonan syndrome 10 | 2 | Jul 1, 2026 |
| Noonan syndrome 11 | 1 | Jan 1, 2025 |
| Noonan syndrome 4 | 2 | Jul 1, 2026 |
| Noonan syndrome 6 | 1 | Sep 4, 2024 |
| Noonan syndrome 9 | 1 | May 6, 2024 |
| Norman-Roberts syndrome | 1 | Jul 1, 2026 |
| Norum disease | 1 | Apr 4, 2024 |
| O'Donnell-Luria-Rodan syndrome | 2 | Oct 1, 2024 |
| Ocular albinism, type I | 1 | May 6, 2024 |
| Oculofaciocardiodental syndrome | 2 | May 16, 2024 |
| Oculopharyngeal muscular dystrophy 1 | 1 | Jul 2, 2025 |
| Ogden syndrome | 1 | May 16, 2024 |
| Oligodontia-cancer predisposition syndrome | 1 | Aug 1, 2025 |
| Oligosynaptic infertility | 1 | Aug 1, 2024 |
| Orofaciodigital syndrome I | 4 | Aug 1, 2024 |
| Osteodysplastic primordial dwarfism, type 1 | 2 | Jul 1, 2026 |
| Osteogenesis imperfecta type I | 3 | Jul 1, 2026 |
| Osteogenesis imperfecta type III | 1 | Aug 26, 2023 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | May 17, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 3 | Jul 1, 2026 |
| Osteopathia striata with cranial sclerosis | 1 | May 11, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Mar 1, 2026 |
| PPARG-related familial partial lipodystrophy | 1 | May 1, 2026 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 1 | May 17, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Jul 1, 2026 |
| Pallister-Hall syndrome | 1 | Nov 1, 2025 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Nov 1, 2025 |
| Paramyotonia congenita of Von Eulenburg | 2 | Mar 4, 2025 |
| Parenti-mignot neurodevelopmental syndrome | 1 | May 28, 2024 |
| Patterned macular dystrophy 2 | 1 | May 16, 2024 |
| Pelizaeus-Merzbacher disease | 3 | Dec 1, 2024 |
| Periventricular nodular heterotopia 7 | 1 | May 11, 2024 |
| Perlman syndrome | 1 | May 16, 2024 |
| Peutz-Jeghers syndrome | 1 | May 6, 2024 |
| Pfeiffer syndrome | 1 | May 6, 2024 |
| Phelan-McDermid syndrome | 1 | Mar 4, 2025 |
| Phenylketonuria | 1 | Jul 1, 2026 |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 | Jan 1, 2026 |
| Pierson syndrome | 2 | Jul 1, 2026 |
| Pigmentary retinal dystrophy | 1 | Oct 1, 2024 |
| Pilarowski-Bjornsson syndrome | 1 | Dec 1, 2024 |
| Pituitary adenoma 5, multiple types | 1 | Jun 1, 2025 |
| Pleuropulmonary blastoma | 1 | Feb 7, 2024 |
| Polycystic kidney disease 2 | 48 | Jul 1, 2026 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 9 | Nov 1, 2025 |
| Polycystic kidney disease 4 | 22 | Jul 1, 2026 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 10 | Jan 1, 2026 |
| Polycystic kidney disease 7 | 9 | Jun 1, 2026 |
| Polycystic kidney disease, adult type | 309 | Jul 1, 2026 |
| Polycystic liver disease 2 | 2 | Dec 1, 2025 |
| Polycystic liver disease 3 with or without kidney cysts | 2 | Mar 1, 2026 |
| Polycystic liver disease 4 with or without kidney cysts | 3 | Apr 1, 2025 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 1 | Aug 1, 2024 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2 | Dec 1, 2024 |
| Primary ciliary dyskinesia 12 | 1 | Mar 4, 2025 |
| Primary erythromelalgia | 1 | May 17, 2024 |
| Primary hyperoxaluria type 3 | 5 | Jul 1, 2026 |
| Primary hyperoxaluria, type I | 4 | Jul 1, 2026 |
| Primary hypomagnesemia | 6 | Jul 1, 2026 |
| Primrose syndrome | 2 | Nov 1, 2025 |
| Progressive familial heart block type IB | 1 | Feb 7, 2024 |
| Progressive familial intrahepatic cholestasis type 1 | 1 | Sep 1, 2025 |
| Progressive pseudorheumatoid dysplasia | 1 | Jan 1, 2025 |
| Proteinuria, chronic benign | 10 | Jul 1, 2026 |
| Pseudohypoaldosteronism type 2C | 1 | Aug 1, 2025 |
| Pseudohypoaldosteronism type 2D | 3 | Jul 1, 2026 |
| Pseudohypoaldosteronism type 2E | 3 | Jul 1, 2026 |
| Pseudohypoaldosteronism, type IB2, autosomal recessive | 1 | Aug 26, 2023 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 1 | Mar 14, 2024 |
| Pulmonary hypertension, primary, 1 | 1 | Aug 1, 2024 |
| Pulmonary hypertension, primary, 4 | 1 | Jan 1, 2026 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Jul 2, 2025 |
| Rabson-Mendenhall syndrome | 1 | Feb 1, 2025 |
| Radioulnar synostosis, nonsyndromic, susceptibility to | 1 | Mar 14, 2024 |
| Rauch-Steindl syndrome | 4 | Jul 1, 2026 |
| Renal coloboma syndrome | 11 | Jul 1, 2026 |
| Renal cysts and diabetes syndrome | 32 | Jul 1, 2026 |
| Renal dysplasia, cystic, susceptibility to | 6 | Mar 4, 2025 |
| Renal hypodysplasia/aplasia 3 | 5 | Sep 1, 2025 |
| Renal hypomagnesemia 5 with ocular involvement | 1 | Apr 10, 2024 |
| Renal tubular acidosis with progressive nerve deafness | 8 | Jul 1, 2026 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 5 | Jul 1, 2026 |
| Renal-hepatic-pancreatic dysplasia 2 | 3 | May 28, 2024 |
| Retinitis pigmentosa 10 | 1 | May 17, 2024 |
| Retinitis pigmentosa 11 | 4 | Oct 2, 2025 |
| Retinitis pigmentosa 13 | 1 | May 6, 2024 |
| Retinitis pigmentosa 14 | 1 | May 16, 2024 |
| Retinitis pigmentosa 3 | 1 | Apr 4, 2024 |
| Retinitis pigmentosa 39 | 1 | Jul 1, 2026 |
| Retinitis pigmentosa 41 | 1 | Apr 4, 2024 |
| Retinitis pigmentosa 49 | 1 | May 11, 2024 |
| Retinitis pigmentosa 80 | 12 | Apr 1, 2025 |
| Retinitis pigmentosa 9 | 1 | Apr 4, 2024 |
| Retinoblastoma | 1 | May 16, 2024 |
| Rett syndrome | 3 | Jul 1, 2026 |
| Rienhoff syndrome | 1 | Jul 1, 2026 |
| Ritscher-Schinzel syndrome 4 | 1 | Jan 1, 2026 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | Mar 1, 2026 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 3 | May 28, 2024 |
| SHORT syndrome | 2 | Jan 1, 2026 |
| SHOX-related short stature | 1 | Nov 1, 2025 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 3 | Feb 1, 2025 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Jul 1, 2026 |
| Saldino-Mainzer syndrome | 1 | Jul 1, 2026 |
| Schinzel-Giedion syndrome | 1 | Feb 7, 2024 |
| Seizures, benign familial infantile, 2 | 1 | Mar 1, 2026 |
| Seizures, benign familial infantile, 5 | 1 | Oct 2, 2025 |
| Seizures, benign familial neonatal, 2 | 2 | Mar 1, 2026 |
| Senior-Loken syndrome 6 | 1 | Aug 26, 2023 |
| Sessile serrated polyposis cancer syndrome | 2 | Jan 1, 2025 |
| Severe X-linked myotubular myopathy | 2 | Dec 1, 2025 |
| Severe early-childhood-onset retinal dystrophy | 3 | Jul 1, 2026 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Apr 4, 2024 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Apr 4, 2024 |
| Severe myoclonic epilepsy in infancy | 4 | Aug 1, 2025 |
| Shashi-Pena syndrome | 1 | Apr 4, 2024 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 2 | Jan 24, 2025 |
| Short stature due to growth hormone secretagogue receptor deficiency | 1 | Mar 1, 2026 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | May 6, 2024 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | May 16, 2024 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Aug 1, 2024 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 1 | Nov 1, 2025 |
| Sifrim-Hitz-Weiss syndrome | 4 | May 28, 2024 |
| Silver-Russell syndrome 3 | 1 | May 28, 2024 |
| Silver-Russell syndrome 5 | 1 | Apr 10, 2024 |
| Sitosterolemia 2 | 1 | Mar 14, 2024 |
| Skin creases, congenital symmetric circumferential, 2 | 1 | May 16, 2024 |
| Skraban-Deardorff syndrome | 2 | Nov 1, 2025 |
| Smith-Lemli-Opitz syndrome | 1 | Jan 1, 2026 |
| Smith-Magenis syndrome | 1 | Jul 1, 2026 |
| Snijders Blok-Campeau syndrome | 3 | Mar 1, 2026 |
| Sotos syndrome | 3 | Jan 1, 2026 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 1 | Jul 1, 2026 |
| Spermatogenic failure 22 | 1 | May 1, 2026 |
| Spermatogenic failure 25 | 1 | Sep 1, 2025 |
| Spermatogenic failure 30 | 2 | May 16, 2024 |
| Spermatogenic failure 39 | 1 | Jan 1, 2026 |
| Spermatogenic failure 80 | 1 | Jul 2, 2025 |
| Spinal muscular atrophy, infantile, James type | 1 | Jul 1, 2026 |
| Spinocerebellar ataxia 27A | 1 | Mar 14, 2024 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 2 | Apr 4, 2024 |
| Spinocerebellar ataxia 48 | 1 | Nov 1, 2025 |
| Spinocerebellar ataxia type 13 | 1 | May 18, 2024 |
| Spinocerebellar ataxia type 28 | 1 | Apr 4, 2024 |
| Spinocerebellar ataxia type 41 | 1 | Feb 3, 2026 |
| Spinocerebellar ataxia type 5 | 1 | Feb 7, 2024 |
| Split hand-foot malformation 1 | 1 | Nov 1, 2024 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Jul 1, 2026 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 1 | Aug 1, 2024 |
| Spondyloperipheral dysplasia | 1 | Jan 1, 2025 |
| Stickler syndrome type 1 | 2 | Jul 1, 2026 |
| Stickler syndrome type 2 | 2 | Apr 1, 2026 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Sep 4, 2024 |
| Striatal degeneration, autosomal dominant 2 | 1 | Jan 1, 2026 |
| Suleiman-El-Hattab syndrome | 2 | Aug 1, 2024 |
| Symmetrical dyschromatosis of extremities | 1 | Apr 1, 2025 |
| Syndromic X-linked intellectual disability 94 | 3 | May 28, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Apr 4, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Nov 1, 2025 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Mar 14, 2024 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Apr 4, 2024 |
| TCF12-related craniosynostosis | 1 | Sep 1, 2025 |
| Tatton-Brown-Rahman overgrowth syndrome | 2 | Nov 1, 2024 |
| Teebi hypertelorism syndrome 1 | 1 | Apr 4, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | May 1, 2026 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 2 | Jul 1, 2026 |
| Temple-Baraitser syndrome | 1 | May 6, 2024 |
| Tessadori-van Haaften neurodevelopmental syndrome 2 | 2 | Jan 1, 2025 |
| Tetralogy of Fallot | 1 | Aug 2, 2024 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Apr 4, 2024 |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 | Dec 1, 2025 |
| Timothy syndrome | 1 | Apr 4, 2024 |
| Tolchin-Le Caignec syndrome | 1 | Feb 1, 2025 |
| Townes-Brocks syndrome 1 | 6 | Jul 1, 2026 |
| Tremor, hereditary essential, 5 | 1 | Jan 1, 2026 |
| Trichorhinophalangeal dysplasia type I | 2 | Aug 26, 2023 |
| Tuberous sclerosis 1 | 4 | Oct 2, 2025 |
| Tuberous sclerosis 2 | 12 | Jul 1, 2026 |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 | Jul 2, 2025 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 2 | Dec 1, 2024 |
| Tyrosinase-positive oculocutaneous albinism | 2 | Jun 1, 2026 |
| Ullrich congenital muscular dystrophy 1A | 2 | Jun 1, 2026 |
| Ulnar-mammary syndrome | 2 | Apr 4, 2024 |
| Upshaw-Schulman syndrome | 11 | Jul 1, 2026 |
| Usher syndrome type 2A | 3 | Apr 1, 2026 |
| Usher syndrome type 2C | 1 | Apr 4, 2024 |
| Van der Woude syndrome 1 | 2 | Jul 1, 2026 |
| Ventriculomegaly-cystic kidney disease | 1 | Jul 1, 2026 |
| Vertebral hypersegmentation and orofacial anomalies | 1 | Apr 4, 2024 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 1 | May 1, 2025 |
| Ververi-Brady syndrome | 3 | Sep 4, 2024 |
| Vesicoureteral reflux 8 | 1 | Apr 4, 2024 |
| Vici syndrome | 1 | Feb 3, 2026 |
| Vissers-Bodmer syndrome | 3 | May 1, 2026 |
| Vitamin D-dependent rickets, type 1A | 1 | Jul 1, 2026 |
| Vitelliform macular dystrophy 2 | 1 | May 28, 2024 |
| Waardenburg syndrome type 2A | 1 | Sep 4, 2024 |
| White-Kernohan syndrome | 1 | May 28, 2024 |
| Wieacker-Wolff syndrome | 1 | May 16, 2024 |
| Wiedemann-Steiner syndrome | 6 | Dec 1, 2025 |
| Wilms tumor 1 | 1 | Jul 1, 2024 |
| Wolfram syndrome 1 | 2 | Dec 1, 2025 |
| X-linked Alport syndrome | 89 | Jul 1, 2026 |
| X-linked Opitz G/BBB syndrome | 1 | May 16, 2024 |
| X-linked chondrodysplasia punctata 1 | 1 | Feb 1, 2025 |
| X-linked cone-rod dystrophy 3 | 1 | Apr 4, 2024 |
| X-linked dystonia-parkinsonism | 1 | Feb 7, 2024 |
| X-linked erythropoietic protoporphyria | 1 | May 6, 2024 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Jan 1, 2026 |
| X-linked intellectual disability, Cantagrel type | 1 | Apr 4, 2024 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Jul 2, 2025 |
| X-linked lissencephaly with abnormal genitalia | 1 | Apr 4, 2024 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Feb 7, 2024 |
| X-linked progressive cerebellar ataxia | 2 | Aug 1, 2024 |
| Xanthinuria type II | 1 | Feb 1, 2025 |
| ZTTK syndrome | 2 | May 20, 2024 |
| Zimmermann-Laband syndrome 3 | 1 | May 6, 2024 |
