| 11q partial monosomy syndrome | 1 | May 29, 2023 |
| 15q11q13 microduplication syndrome | 1 | May 29, 2023 |
| 3-methylglutaconic aciduria type 5 | 1 | Oct 9, 2021 |
| 3M syndrome 1 | 2 | Jul 17, 2024 |
| 46,XY sex reversal 11 | 1 | Oct 1, 2022 |
| 46,XY sex reversal 9 | 1 | Oct 9, 2021 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 3 | Jun 11, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Oct 9, 2021 |
| AFF3-related neurodevelopmental disorders | 1 | Jan 31, 2022 |
| ATP6V1B2 related neurodevelopmental disorders | 1 | Jan 18, 2022 |
| Aarskog syndrome | 1 | Jul 17, 2024 |
| Achondroplasia | 1 | Oct 1, 2022 |
| Achromatopsia 3 | 2 | Oct 1, 2022 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Oct 9, 2021 |
| Acyl-CoA dehydrogenase 9 deficiency | 2 | Jul 18, 2023 |
| Adrenoleukodystrophy | 5 | Jun 11, 2024 |
| Aicardi-Goutieres syndrome 1 | 1 | Oct 1, 2022 |
| Aicardi-Goutieres syndrome 3 | 1 | Oct 9, 2021 |
| Aicardi-Goutieres syndrome 4 | 1 | Jul 18, 2023 |
| Aicardi-Goutieres syndrome 7 | 1 | Mar 6, 2019 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Oct 9, 2021 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Jul 18, 2023 |
| Alexander disease | 1 | Mar 6, 2019 |
| Alkaptonuria | 2 | Oct 9, 2021 |
| Alport syndrome 3b, autosomal recessive | 1 | Jun 11, 2024 |
| Alstrom syndrome | 5 | Jul 17, 2024 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Jul 17, 2024 |
| Andersen Tawil syndrome | 1 | Mar 6, 2019 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Jul 18, 2023 |
| Angelman syndrome | 1 | Oct 1, 2022 |
| Aniridia 1 | 3 | Oct 1, 2022 |
| Aortic aneurysm, familial thoracic 10 | 1 | Oct 1, 2022 |
| Aortic aneurysm, familial thoracic 4 | 1 | Oct 1, 2022 |
| Argininosuccinate lyase deficiency | 7 | Jun 11, 2024 |
| Arrhythmogenic right ventricular dysplasia 1 | 1 | Mar 6, 2019 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 2 | Jul 17, 2024 |
| Ataxia-telangiectasia syndrome | 7 | Jun 11, 2024 |
| Autistic behavior | 1 | Oct 1, 2022 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Jul 17, 2024 |
| Autosomal dominant Alport syndrome | 2 | Jul 18, 2023 |
| Autosomal dominant centronuclear myopathy | 3 | Jul 17, 2024 |
| Autosomal dominant distal renal tubular acidosis | 1 | Jul 17, 2024 |
| Autosomal dominant hypocalcemia 1 | 1 | Oct 9, 2021 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Jul 24, 2022 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 | Oct 9, 2021 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Oct 9, 2021 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Oct 1, 2022 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Mar 6, 2019 |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 | Mar 6, 2019 |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 | Jul 17, 2024 |
| Autosomal dominant optic atrophy classic form | 2 | Oct 1, 2022 |
| Autosomal dominant osteopetrosis 2 | 1 | Oct 1, 2022 |
| Autosomal recessive Alport syndrome | 2 | Jun 11, 2024 |
| Autosomal recessive DOPA responsive dystonia | 2 | Jun 11, 2024 |
| Autosomal recessive congenital ichthyosis 1 | 3 | Jul 17, 2024 |
| Autosomal recessive congenital ichthyosis 2 | 2 | Oct 9, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 11 | Jul 17, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 3 | Jun 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Jun 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 | Jun 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 | Jun 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 | Jun 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Oct 1, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 | Jul 17, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 | Oct 9, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 2 | Jun 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Jun 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 | Oct 9, 2021 |
| Autosomal recessive multiple pterygium syndrome | 2 | Oct 9, 2021 |
| Autosomal recessive nonsyndromic hearing loss 1A | 9 | Jun 11, 2024 |
| Autosomal recessive nonsyndromic hearing loss 2 | 4 | Jun 11, 2024 |
| Autosomal recessive nonsyndromic hearing loss 21 | 2 | Oct 9, 2021 |
| Autosomal recessive osteopetrosis 1 | 1 | Jun 11, 2024 |
| Autosomal recessive polycystic kidney disease | 2 | Mar 6, 2019 |
| Axenfeld-Rieger syndrome type 3 | 1 | May 29, 2023 |
| Baraitser-Winter syndrome 1 | 1 | Mar 6, 2019 |
| Bardet-Biedl syndrome 1 | 4 | Jun 11, 2024 |
| Bardet-Biedl syndrome 12 | 1 | Jun 11, 2024 |
| Bardet-Biedl syndrome 2 | 5 | Jun 11, 2024 |
| Bardet-Biedl syndrome 5 | 1 | Oct 9, 2021 |
| Bartter disease type 1 | 2 | Oct 1, 2022 |
| Bartter disease type 3 | 1 | Jul 18, 2023 |
| Becker muscular dystrophy | 14 | May 29, 2023 |
| Beckwith-Wiedemann syndrome | 1 | Oct 1, 2022 |
| Benign familial hematuria | 2 | Jul 18, 2023 |
| Benign hereditary chorea | 1 | Oct 9, 2021 |
| Beta-thalassemia HBB/LCRB | 12 | Jun 11, 2024 |
| Bethlem myopathy 1A | 6 | Oct 9, 2021 |
| Bethlem myopathy 1B | 1 | Jul 17, 2024 |
| Biotinidase deficiency | 3 | Jun 11, 2024 |
| Birt-Hogg-Dube syndrome | 2 | Oct 9, 2021 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Jul 17, 2024 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 2 | Oct 1, 2022 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Jul 17, 2024 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Aug 1, 2024 |
| Bloom syndrome | 2 | Jun 11, 2024 |
| Bohring-Opitz syndrome | 1 | Oct 1, 2022 |
| Bone mineral density quantitative trait locus 18 | 1 | Oct 1, 2022 |
| Boomerang dysplasia | 1 | Oct 1, 2022 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Oct 21, 2022 |
| Brachydactyly type B2 | 1 | Oct 9, 2021 |
| Brain malformations with or without urinary tract defects | 1 | Jul 18, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 3 | Oct 1, 2022 |
| Brittle cornea syndrome 2 | 1 | Oct 9, 2021 |
| Brown-Vialetto-van Laere syndrome 2 | 1 | Oct 9, 2021 |
| Bruck syndrome 1 | 1 | Oct 9, 2021 |
| Brugada syndrome 1 | 1 | Oct 9, 2021 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | Oct 1, 2022 |
| CAPRIN1-related neurodevelopmental disorders | 1 | Jan 31, 2022 |
| CBL-related disorder | 1 | Oct 9, 2021 |
| CHARGE syndrome | 4 | Jul 17, 2024 |
| CLAPO syndrome | 2 | Oct 9, 2021 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Jul 17, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Jan 23, 2022 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Oct 1, 2022 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Oct 9, 2021 |
| Cardiofaciocutaneous syndrome 1 | 2 | Jul 17, 2024 |
| Cardiofaciocutaneous syndrome 3 | 2 | Oct 1, 2022 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Oct 9, 2021 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Oct 1, 2022 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 | Jun 11, 2024 |
| Cataract 3 multiple types | 1 | Oct 1, 2022 |
| Cataract 9 multiple types | 1 | Oct 1, 2022 |
| Catifa syndrome | 1 | Oct 1, 2022 |
| Central core myopathy | 13 | Dec 5, 2023 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Oct 9, 2021 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 3 | Jul 18, 2023 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 | Oct 9, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Oct 9, 2021 |
| Charcot-Marie-Tooth disease type 4C | 2 | Oct 1, 2022 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Jul 17, 2024 |
| Charcot-Marie-Tooth disease, type IA | 1 | Oct 9, 2021 |
| Charlevoix-Saguenay spastic ataxia | 5 | Jun 11, 2024 |
| Chilblain lupus 1 | 1 | Oct 9, 2021 |
| Cholestanol storage disease | 3 | Jun 11, 2024 |
| Cholestasis | 1 | May 29, 2023 |
| Cholesteryl ester storage disease | 3 | Jun 11, 2024 |
| Choroideremia | 1 | Jul 18, 2023 |
| Chromosome 15q11.2 deletion syndrome | 1 | May 29, 2023 |
| Chromosome 1q21.1 duplication syndrome | 1 | May 29, 2023 |
| Chromosome 2q37 deletion syndrome | 1 | Oct 1, 2022 |
| Chylomicron retention disease | 2 | May 29, 2023 |
| Citrullinemia type I | 3 | Jun 11, 2024 |
| Clark-Baraitser syndrome | 2 | Jul 17, 2024 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 4 | Jun 11, 2024 |
| Classic homocystinuria | 3 | Jun 11, 2024 |
| Cleidocranial dysostosis | 2 | Jul 18, 2023 |
| Cobalamin C disease | 1 | Jun 11, 2024 |
| Cockayne syndrome type 2 | 1 | Jun 11, 2024 |
| Coffin-Lowry syndrome | 1 | Mar 6, 2019 |
| Cohen syndrome | 4 | Jun 11, 2024 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 1 | Oct 9, 2021 |
| Combined immunodeficiency, X-linked | 1 | Jul 17, 2024 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 | Jul 17, 2024 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Oct 1, 2022 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Oct 1, 2022 |
| Complex cortical dysplasia with other brain malformations 6 | 1 | Jul 17, 2024 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Oct 1, 2022 |
| Cone monochromatism | 1 | Oct 9, 2021 |
| Congenital contractural arachnodactyly | 2 | Oct 1, 2022 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Mar 6, 2019 |
| Congenital hyperammonemia, type I | 1 | Jun 11, 2024 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Jun 11, 2024 |
| Congenital multicore myopathy with external ophthalmoplegia | 3 | Jul 18, 2023 |
| Congenital muscular dystrophy due to LMNA mutation | 3 | Jul 18, 2023 |
| Congenital myasthenic syndrome 11 | 2 | Jul 18, 2023 |
| Congenital myasthenic syndrome 13 | 2 | Oct 9, 2021 |
| Congenital myasthenic syndrome 4C | 1 | Oct 9, 2021 |
| Congenital myopathy 23 | 2 | Jul 17, 2024 |
| Congenital myotonia, autosomal dominant form | 1 | Feb 26, 2024 |
| Congenital myotonia, autosomal recessive form | 26 | Mar 14, 2024 |
| Congenital nongoitrous hypothyroidism 6 | 1 | Oct 9, 2021 |
| Congenital reticular ichthyosiform erythroderma | 1 | Oct 9, 2021 |
| Cornelia de Lange syndrome 1 | 2 | Oct 9, 2021 |
| Cornelia de Lange syndrome 5 | 1 | Jul 17, 2024 |
| Costello syndrome | 1 | Oct 9, 2021 |
| Creatine transporter deficiency | 2 | Jul 18, 2023 |
| Crouzon syndrome | 1 | Oct 1, 2022 |
| Cystic fibrosis | 18 | Jun 11, 2024 |
| DEGCAGS syndrome | 1 | Oct 1, 2022 |
| DYRK1A-related intellectual disability syndrome | 1 | Oct 9, 2021 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 | Jun 11, 2024 |
| Deficiency of alpha-mannosidase | 1 | Jun 11, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 3 | Jun 11, 2024 |
| Deficiency of galactokinase | 2 | Jun 11, 2024 |
| Desmin-related myofibrillar myopathy | 1 | Jul 17, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Jan 23, 2024 |
| Developmental and epileptic encephalopathy 99 | 1 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 1 | 3 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 11 | 2 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 13 | 2 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 14 | 4 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 2 | 3 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 34 | 2 | Jul 17, 2024 |
| Developmental and epileptic encephalopathy, 4 | 3 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 42 | 1 | Oct 1, 2022 |
| Developmental and epileptic encephalopathy, 46 | 1 | Oct 1, 2022 |
| Developmental and epileptic encephalopathy, 5 | 1 | Oct 9, 2021 |
| Developmental and epileptic encephalopathy, 54 | 1 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 59 | 2 | Oct 1, 2022 |
| Developmental and epileptic encephalopathy, 66 | 1 | Oct 1, 2022 |
| Developmental and epileptic encephalopathy, 67 | 2 | Oct 1, 2022 |
| Developmental and epileptic encephalopathy, 7 | 2 | Mar 27, 2020 |
| Developmental and epileptic encephalopathy, 87 | 1 | Oct 1, 2022 |
| Developmental and epileptic encephalopathy, 9 | 3 | Oct 1, 2022 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | May 29, 2023 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 2 | Oct 1, 2022 |
| DiGeorge syndrome | 1 | Oct 1, 2022 |
| Diabetes insipidus, nephrogenic, X-linked | 1 | Jul 18, 2023 |
| Diamond-Blackfan anemia 10 | 1 | Mar 27, 2020 |
| Diamond-Blackfan anemia 7 | 1 | Oct 1, 2022 |
| Dilated cardiomyopathy 1AA | 1 | Oct 1, 2022 |
| Dilated cardiomyopathy 1D | 2 | Oct 9, 2021 |
| Dilated cardiomyopathy 1E | 1 | Oct 1, 2022 |
| Dilated cardiomyopathy 1G | 1 | Jul 17, 2024 |
| Dilated cardiomyopathy 1P | 1 | Oct 1, 2022 |
| Dilated cardiomyopathy 1S | 4 | Jul 17, 2024 |
| Dilated cardiomyopathy 1Y | 1 | Oct 9, 2021 |
| Dilated cardiomyopathy 3B | 3 | Dec 22, 2022 |
| Donnai-Barrow syndrome | 2 | Oct 1, 2022 |
| Duchenne muscular dystrophy | 94 | Jul 17, 2024 |
| EAST syndrome | 1 | Oct 9, 2021 |
| Early-onset generalized limb-onset dystonia | 1 | Oct 9, 2021 |
| Ehlers-Danlos syndrome, classic type | 1 | Mar 6, 2019 |
| Ehlers-Danlos syndrome, classic type, 1 | 2 | Jul 17, 2024 |
| Ehlers-Danlos syndrome, type 4 | 1 | Oct 9, 2021 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 2 | Jul 17, 2024 |
| Elevated circulating creatine kinase concentration | 4 | Jan 30, 2023 |
| Ellis-van Creveld syndrome | 3 | Jun 11, 2024 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Oct 9, 2021 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Oct 9, 2021 |
| Enterokinase deficiency | 1 | Oct 9, 2021 |
| Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | 1 | Mar 6, 2019 |
| Epidermolysis bullosa, junctional 2A, intermediate | 3 | Jun 11, 2024 |
| Epidermolysis bullosa, junctional 3B, severe | 1 | Jun 11, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Jul 17, 2024 |
| Euthyroid goiter | 1 | Mar 27, 2020 |
| Exostoses, multiple, type 1 | 2 | Jul 18, 2023 |
| Facioscapulohumeral muscular dystrophy 2 | 1 | Oct 9, 2021 |
| Familial Mediterranean fever | 6 | Jun 11, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Jul 18, 2023 |
| Familial cold autoinflammatory syndrome 2 | 1 | Oct 9, 2021 |
| Familial dysfibrinogenemia | 1 | Oct 9, 2021 |
| Familial hypobetalipoproteinemia 1 | 1 | Oct 9, 2021 |
| Familial hypokalemia-hypomagnesemia | 4 | Oct 1, 2022 |
| Familial visceral amyloidosis, Ostertag type | 1 | Jul 18, 2023 |
| Fanconi anemia complementation group A | 6 | Jun 11, 2024 |
| Fanconi anemia complementation group C | 2 | Jun 11, 2024 |
| Fanconi anemia complementation group D1 | 2 | Oct 9, 2021 |
| Fanconi anemia complementation group L | 1 | Oct 9, 2021 |
| Fibrous dysplasia of jaw | 1 | Oct 1, 2022 |
| Finnish congenital nephrotic syndrome | 2 | Jun 11, 2024 |
| Floating-Harbor syndrome | 2 | Jul 18, 2023 |
| Freeman-Sheldon syndrome | 1 | Jul 18, 2023 |
| Fructose-biphosphatase deficiency | 2 | May 29, 2023 |
| GNE myopathy | 4 | Jul 18, 2023 |
| GNPTG-mucolipidosis | 3 | Jun 11, 2024 |
| Galactosylceramide beta-galactosidase deficiency | 4 | Jul 17, 2024 |
| Galloway-Mowat syndrome 1 | 1 | Jul 24, 2022 |
| Gamma-aminobutyric acid transaminase deficiency | 3 | May 29, 2023 |
| Gaucher disease type I | 3 | Jun 11, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 10 | Nov 20, 2022 |
| Gillespie syndrome | 1 | Mar 6, 2019 |
| Glaucoma 1, open angle, A | 1 | Jul 18, 2023 |
| Glomuvenous malformation | 1 | Jul 18, 2023 |
| Glucose-6-phosphate transport defect | 2 | Jul 17, 2024 |
| Glutamate pyruvate transaminase 2 deficiency | 3 | Jul 18, 2023 |
| Glutaric aciduria, type 1 | 2 | Jun 11, 2024 |
| Glycine encephalopathy 1 | 3 | Jun 11, 2024 |
| Glycine encephalopathy 2 | 4 | Jun 11, 2024 |
| Glycogen storage disease IXa1 | 1 | Oct 1, 2022 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 | Jun 11, 2024 |
| Glycogen storage disease type III | 3 | Jun 11, 2024 |
| Glycogen storage disease, type II | 6 | Jun 11, 2024 |
| Glycogen storage disease, type V | 2 | Oct 1, 2022 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 1 | Jul 17, 2024 |
| Goldberg-Shprintzen syndrome | 4 | Oct 9, 2021 |
| Gorlin syndrome | 2 | Oct 9, 2021 |
| Greig cephalopolysyndactyly syndrome | 2 | Jul 18, 2023 |
| H syndrome | 1 | Oct 9, 2021 |
| HNF1B-related disorder | 1 | May 29, 2023 |
| HNSHA due to aldolase A deficiency | 2 | Oct 9, 2021 |
| HP:0000729 Autistic spectrum disorder | 1 | Sep 16, 2024 |
| Hajdu-Cheney syndrome | 1 | Oct 1, 2022 |
| Hearing loss, autosomal dominant 37 | 1 | Oct 1, 2022 |
| Hearing loss, autosomal recessive 111 | 1 | Jul 17, 2024 |
| Hereditary cryohydrocytosis with reduced stomatin | 2 | Oct 1, 2022 |
| Hereditary fructosuria | 3 | Jul 18, 2023 |
| Hereditary spastic paraplegia 15 | 1 | Jun 11, 2024 |
| Hereditary spastic paraplegia 3A | 1 | Oct 1, 2022 |
| Hereditary spastic paraplegia 4 | 12 | Jul 17, 2024 |
| Hereditary spastic paraplegia 50 | 1 | Oct 1, 2022 |
| Hereditary spastic paraplegia 73 | 1 | Jul 18, 2023 |
| Hereditary spherocytosis type 2 | 3 | Jul 17, 2024 |
| Hereditary spherocytosis type 3 | 1 | Oct 1, 2022 |
| Hermansky-Pudlak syndrome 1 | 1 | Jul 17, 2024 |
| Heterotaxy, visceral, 8, autosomal | 1 | Oct 9, 2021 |
| Heterotopia, periventricular, X-linked dominant | 1 | Oct 9, 2021 |
| Histiocytic medullary reticulosis | 1 | Oct 9, 2021 |
| Hogue-Janssens syndrome 1 | 1 | Jul 17, 2024 |
| Holocarboxylase synthetase deficiency | 2 | Jun 11, 2024 |
| Holoprosencephaly 2 | 2 | Oct 9, 2021 |
| Holoprosencephaly 3 | 1 | Oct 1, 2022 |
| Houge-Janssens syndrome 3 | 1 | May 29, 2023 |
| Hutchinson-Gilford syndrome | 1 | Jul 18, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Oct 9, 2021 |
| Hypercholesterolemia, familial, 1 | 5 | Jul 17, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Jun 11, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 1 | Jun 11, 2024 |
| Hyperinsulinism due to glucokinase deficiency | 1 | Oct 9, 2021 |
| Hyperparathyroidism 4 | 1 | Oct 9, 2021 |
| Hyperparathyroidism, transient neonatal | 1 | Jul 18, 2023 |
| Hyperpigmentation with or without hypopigmentation, familial progressive | 1 | Oct 1, 2022 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Oct 1, 2022 |
| Hypertrophic cardiomyopathy 1 | 1 | Jul 18, 2023 |
| Hypertrophic cardiomyopathy 4 | 4 | Jul 17, 2024 |
| Hypochondroplasia | 1 | Jul 17, 2024 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | Jul 17, 2024 |
| Hypogonadotropic hypogonadism 26 with or without anosmia | 1 | Jul 18, 2023 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Oct 29, 2024 |
| Hypohidrotic X-linked ectodermal dysplasia | 3 | Jul 18, 2023 |
| Hypokalemic periodic paralysis, type 1 | 4 | Jul 18, 2023 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 | Oct 1, 2022 |
| Ichthyosis vulgaris | 1 | Oct 9, 2021 |
| Imagawa-Matsumoto syndrome | 1 | Jul 17, 2024 |
| Immunodeficiency 36 | 1 | Oct 9, 2021 |
| Immunodeficiency 61 | 1 | May 29, 2023 |
| Immunodeficiency, common variable, 2 | 1 | Oct 9, 2021 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 | Mar 6, 2019 |
| Infantile GM1 gangliosidosis | 3 | Jun 11, 2024 |
| Infantile convulsions and choreoathetosis | 3 | Jul 18, 2023 |
| Infantile cortical hyperostosis | 1 | Jul 17, 2024 |
| Infantile hypophosphatasia | 2 | Jun 11, 2024 |
| Infantile onset spinocerebellar ataxia | 2 | Oct 1, 2022 |
| Inflammatory bowel disease 1 | 1 | Oct 1, 2022 |
| Inflammatory bowel disease 25 | 1 | Oct 9, 2021 |
| Intellectual developmental disorder 60 with seizures | 1 | Oct 1, 2022 |
| Intellectual developmental disorder 61 | 1 | Oct 1, 2022 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Jul 17, 2024 |
| Intellectual developmental disorder with hypertelorism and distinctive facies | 1 | Oct 1, 2022 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Oct 1, 2022 |
| Intellectual developmental disorder with seizures and language delay | 3 | Jul 18, 2023 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Oct 9, 2021 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Oct 1, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 1 | Jul 17, 2024 |
| Intellectual disability | 1 | May 29, 2023 |
| Intellectual disability, X-linked 102 | 2 | Jul 18, 2023 |
| Intellectual disability, X-linked 104 | 1 | Oct 9, 2021 |
| Intellectual disability, X-linked 49 | 1 | Oct 9, 2021 |
| Intellectual disability, X-linked 90 | 1 | Oct 9, 2021 |
| Intellectual disability, X-linked 99 | 3 | Jul 17, 2024 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Oct 9, 2021 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Oct 9, 2021 |
| Intellectual disability, X-linked, syndromic, Bain type | 2 | Jul 17, 2024 |
| Intellectual disability, autosomal dominant 1 | 1 | May 29, 2023 |
| Intellectual disability, autosomal dominant 13 | 1 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 20 | 1 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 39 | 1 | Oct 9, 2021 |
| Intellectual disability, autosomal dominant 43 | 2 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 45 | 1 | Mar 6, 2019 |
| Intellectual disability, autosomal dominant 46 | 1 | Oct 9, 2021 |
| Intellectual disability, autosomal dominant 5 | 3 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 54 | 1 | Oct 1, 2022 |
| Intellectual disability, autosomal dominant 58 | 1 | Oct 9, 2021 |
| Intellectual disability, autosomal dominant 6 | 2 | Oct 9, 2021 |
| Intellectual disability, autosomal dominant 9 | 1 | Oct 1, 2022 |
| Intellectual disability, autosomal recessive 66 | 1 | Oct 1, 2022 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | May 29, 2023 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Oct 1, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Oct 9, 2021 |
| Iron-refractory iron deficiency anemia | 1 | Oct 9, 2021 |
| Isovaleryl-CoA dehydrogenase deficiency | 1 | Jun 11, 2024 |
| Jaberi-Elahi syndrome | 1 | Jan 27, 2023 |
| Joubert syndrome 17 | 2 | Oct 9, 2021 |
| Joubert syndrome 28 | 2 | Oct 9, 2021 |
| Junctional epidermolysis bullosa gravis of Herlitz | 2 | Jun 11, 2024 |
| Junctional epidermolysis bullosa with pyloric atresia | 2 | Jul 17, 2024 |
| Juvenile retinoschisis | 1 | Jun 11, 2024 |
| KBG syndrome | 2 | Jul 17, 2024 |
| KCNT1-related channelopathy | 1 | Jan 31, 2022 |
| KINSSHIP syndrome | 1 | Oct 1, 2022 |
| Kabuki syndrome 1 | 5 | Jul 17, 2024 |
| Kabuki syndrome 2 | 1 | Mar 6, 2019 |
| Kindler syndrome | 1 | Mar 6, 2019 |
| Kleefstra syndrome 1 | 2 | Jul 17, 2024 |
| Kleefstra syndrome 2 | 1 | Jul 18, 2023 |
| Klinefelter syndrome | 1 | May 29, 2023 |
| Koolen-de Vries syndrome | 2 | Jul 17, 2024 |
| Kostmann syndrome | 1 | May 29, 2023 |
| LEOPARD syndrome 1 | 3 | Oct 1, 2022 |
| Lafora disease | 1 | Oct 9, 2021 |
| Landau-Kleffner syndrome | 1 | Oct 1, 2022 |
| Leber congenital amaurosis 1 | 2 | Oct 9, 2021 |
| Leber congenital amaurosis 15 | 1 | Oct 9, 2021 |
| Leber hereditary optic neuropathy, autosomal recessive | 2 | Oct 9, 2021 |
| Legius syndrome | 1 | Jul 17, 2024 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Oct 1, 2022 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Oct 9, 2021 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 1 | May 23, 2022 |
| Lissencephaly due to LIS1 mutation | 1 | Jul 24, 2022 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Oct 1, 2022 |
| Loeys-Dietz syndrome 1 | 1 | Jul 17, 2024 |
| Loeys-Dietz syndrome 2 | 1 | Oct 9, 2021 |
| Loeys-Dietz syndrome 4 | 2 | Jul 18, 2023 |
| Long QT syndrome 1 | 2 | Oct 1, 2022 |
| Long QT syndrome 2 | 1 | Oct 9, 2021 |
| Long QT syndrome 3 | 1 | Oct 9, 2021 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2 | Jun 11, 2024 |
| Lowe syndrome | 1 | Oct 9, 2021 |
| Luscan-Lumish syndrome | 1 | Oct 1, 2022 |
| MPI-congenital disorder of glycosylation | 1 | Jun 11, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2 | Oct 9, 2021 |
| Macular degeneration, age-related, 3 | 1 | Oct 9, 2021 |
| Malan overgrowth syndrome | 1 | Oct 9, 2021 |
| Malignant hyperthermia, susceptibility to, 1 | 2 | Mar 6, 2019 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | May 29, 2023 |
| Maple syrup urine disease type 1A | 1 | Jun 11, 2024 |
| Maple syrup urine disease type 1B | 3 | Jun 11, 2024 |
| Maple syrup urine disease type 2 | 3 | Jun 11, 2024 |
| Marfan syndrome | 26 | Jul 17, 2024 |
| Marshall-Smith syndrome | 1 | Oct 1, 2022 |
| McLeod neuroacanthocytosis syndrome | 1 | Oct 9, 2021 |
| Meckel syndrome, type 1 | 2 | Jun 11, 2024 |
| Meckel syndrome, type 4 | 2 | Oct 1, 2022 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 7 | Jun 11, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 | Jul 17, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Oct 9, 2021 |
| Meier-Gorlin syndrome 2 | 2 | Oct 9, 2021 |
| Melnick-Needles syndrome | 2 | Jul 17, 2024 |
| Menkes kinky-hair syndrome | 2 | Oct 1, 2022 |
| Metachromatic leukodystrophy | 1 | Jun 11, 2024 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2 | Jun 11, 2024 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Oct 1, 2022 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Jul 17, 2024 |
| Microcephaly, normal intelligence and immunodeficiency | 3 | Jun 11, 2024 |
| Microphthalmia, syndromic 12 | 1 | Oct 1, 2022 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 1 | Jul 18, 2023 |
| Migraine, familial hemiplegic, 2 | 1 | Oct 1, 2022 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 | Oct 9, 2021 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | Jun 11, 2024 |
| Miyoshi muscular dystrophy 3 | 2 | Oct 9, 2021 |
| Monocytopenia with susceptibility to infections | 1 | Oct 1, 2022 |
| Mosaic variegated aneuploidy syndrome 1 | 1 | Oct 9, 2021 |
| Moyamoya disease 2 | 1 | Mar 6, 2019 |
| Mucolipidosis type II | 5 | Jun 11, 2024 |
| Mucolipidosis type IV | 1 | Jun 11, 2024 |
| Mucopolysaccharidosis, MPS-II | 1 | Jul 18, 2023 |
| Mucopolysaccharidosis, MPS-III-A | 2 | Jun 11, 2024 |
| Mucopolysaccharidosis, MPS-III-B | 5 | Jun 11, 2024 |
| Mucopolysaccharidosis, MPS-III-C | 4 | Jun 11, 2024 |
| Mucopolysaccharidosis, MPS-IV-A | 3 | Oct 9, 2021 |
| Muenke syndrome | 1 | Oct 1, 2022 |
| Multicentric osteolysis nodulosis arthropathy spectrum | 2 | Oct 9, 2021 |
| Multiple cutaneous and mucosal venous malformations | 2 | Jul 18, 2023 |
| Multiple epiphyseal dysplasia type 1 | 1 | Oct 9, 2021 |
| Multiple epiphyseal dysplasia type 4 | 2 | Jun 11, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Jun 11, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 1 | Oct 1, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 2 | Oct 9, 2021 |
| Myelodysplastic syndrome | 1 | Oct 1, 2022 |
| Myhre syndrome | 2 | Jul 18, 2023 |
| Myoclonic dystonia 11 | 1 | Oct 1, 2022 |
| Myopathy, proximal, and ophthalmoplegia | 3 | Jul 18, 2023 |
| Myopathy, reducing body, X-linked, early-onset, severe | 1 | Jul 18, 2023 |
| Myopathy, tubular aggregate, 1 | 1 | Jul 17, 2024 |
| Myosin storage myopathy | 1 | Jul 18, 2023 |
| NOG-related disorder | 1 | Mar 3, 2022 |
| Nemaline myopathy 2 | 8 | Jun 11, 2024 |
| Nephronophthisis 12 | 1 | Oct 1, 2022 |
| Nephronophthisis 4 | 3 | Jul 17, 2024 |
| Nephropathic cystinosis | 2 | Jun 11, 2024 |
| Nephrotic syndrome, type 2 | 6 | Jul 17, 2024 |
| Netherton syndrome | 2 | Jul 17, 2024 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 1 | Oct 1, 2022 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Jul 17, 2024 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 1 | Oct 1, 2022 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | Oct 1, 2022 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 1 | Jul 28, 2022 |
| Neurodevelopmental disorder with involuntary movements | 2 | Oct 1, 2022 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Oct 1, 2022 |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 1 | Oct 1, 2022 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Jul 18, 2023 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Jul 17, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 2 | Jul 17, 2024 |
| Neurofibromatosis, type 1 | 99 | Jul 17, 2024 |
| Neuronal ceroid lipofuscinosis 2 | 2 | Oct 1, 2022 |
| Neuroocular syndrome 1 | 1 | Jul 17, 2024 |
| Nicolaides-Baraitser syndrome | 1 | Jan 31, 2022 |
| Niemann-Pick disease, type A | 2 | Jun 11, 2024 |
| Niemann-Pick disease, type C1 | 5 | Jun 11, 2024 |
| Noonan syndrome 1 | 10 | Jul 17, 2024 |
| Noonan syndrome 10 | 1 | Jul 18, 2023 |
| Noonan syndrome 13 | 1 | Oct 9, 2021 |
| Noonan syndrome 3 | 2 | Jul 18, 2023 |
| Noonan syndrome 4 | 3 | Oct 9, 2021 |
| Noonan syndrome 8 | 3 | Oct 9, 2021 |
| Noonan syndrome 9 | 1 | Oct 9, 2021 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Oct 9, 2021 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 2 | Jul 17, 2024 |
| Oculocutaneous albinism type 1B | 1 | Mar 6, 2019 |
| Oculocutaneous albinism type 4 | 1 | Jul 17, 2024 |
| Ogden syndrome | 1 | Mar 6, 2019 |
| Orofaciodigital syndrome V | 2 | Oct 9, 2021 |
| Osteogenesis imperfecta type 15 | 1 | Oct 9, 2021 |
| Osteogenesis imperfecta type 5 | 1 | Jul 17, 2024 |
| Osteogenesis imperfecta type I | 7 | Jul 17, 2024 |
| Osteogenesis imperfecta type III | 1 | Jul 17, 2024 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Jul 17, 2024 |
| Oto-palato-digital syndrome, type I | 2 | Oct 1, 2022 |
| PCDH19-related epilespy | 1 | Jan 31, 2022 |
| PMM2-congenital disorder of glycosylation | 4 | Jun 11, 2024 |
| PNPO-related disorder | 1 | May 29, 2023 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 4 | Jul 18, 2023 |
| Palmoplantar keratoderma, epidermolytic | 1 | Oct 9, 2021 |
| Paragangliomas 4 | 1 | Oct 9, 2021 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Jul 18, 2023 |
| Pelizaeus-Merzbacher disease | 1 | Oct 1, 2022 |
| Pendred syndrome | 3 | Jun 11, 2024 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Jun 11, 2024 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 1 | Jun 11, 2024 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 3 | Jun 11, 2024 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Jun 11, 2024 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 1 | Jun 11, 2024 |
| Peroxisome biogenesis disorder 9B | 2 | Jun 11, 2024 |
| Phelan-McDermid syndrome | 1 | Jul 18, 2023 |
| Phenylketonuria | 19 | Jun 11, 2024 |
| Piebaldism | 1 | Oct 9, 2021 |
| Pilarowski-Bjornsson syndrome | 1 | Oct 1, 2022 |
| Pituitary hormone deficiency, combined, 2 | 2 | Jun 11, 2024 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 1 | Oct 9, 2021 |
| Platelet-type bleeding disorder 10 | 2 | Jul 17, 2024 |
| Poirier-Bienvenu neurodevelopmental syndrome | 2 | Mar 3, 2022 |
| Polycystic kidney disease 2 | 1 | Oct 9, 2021 |
| Polycystic kidney disease 4 | 13 | Jul 17, 2024 |
| Polycystic kidney disease, adult type | 9 | Jul 17, 2024 |
| Polydactyly, postaxial, type a7 | 2 | May 29, 2023 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Jun 11, 2024 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 2 | Oct 1, 2022 |
| Porencephaly 2 | 1 | Oct 9, 2021 |
| Potocki-Lupski syndrome | 1 | May 29, 2023 |
| Premature chromatid separation trait | 1 | Oct 9, 2021 |
| Premature ovarian failure 14 | 1 | Oct 9, 2021 |
| Premature ovarian failure 7 | 1 | Oct 9, 2021 |
| Primary ciliary dyskinesia | 1 | May 29, 2023 |
| Primary ciliary dyskinesia 7 | 2 | Dec 5, 2023 |
| Primary hyperoxaluria type 3 | 3 | Jun 11, 2024 |
| Primary hyperoxaluria, type I | 3 | Jun 11, 2024 |
| Primary hyperoxaluria, type II | 1 | Jun 11, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Oct 9, 2021 |
| Progressive pseudorheumatoid dysplasia | 1 | Mar 6, 2019 |
| Prolidase deficiency | 2 | Oct 9, 2021 |
| Propionic acidemia | 1 | Jun 11, 2024 |
| Pseudohypoaldosteronism type 2B | 1 | Oct 9, 2021 |
| Pseudohypoparathyroidism type I A | 1 | Jul 17, 2024 |
| Pseudopseudohypoparathyroidism | 1 | Oct 9, 2021 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Mar 6, 2019 |
| Pyruvate dehydrogenase E3 deficiency | 2 | Jun 11, 2024 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Jul 17, 2024 |
| Pyruvate kinase deficiency of red cells | 2 | Oct 9, 2021 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Jul 17, 2024 |
| Radio-Tartaglia syndrome | 1 | Jul 18, 2023 |
| Recessive dystrophic epidermolysis bullosa | 3 | Oct 9, 2021 |
| Reis-Bucklers' corneal dystrophy | 1 | Jul 18, 2023 |
| Renal carnitine transport defect | 9 | Jun 11, 2024 |
| Renal cysts and diabetes syndrome | 1 | Oct 1, 2022 |
| Retinitis pigmentosa 2 | 1 | Oct 9, 2021 |
| Retinitis pigmentosa 25 | 2 | Jul 17, 2024 |
| Retinitis pigmentosa 38 | 1 | Dec 5, 2023 |
| Retinitis pigmentosa 40 | 1 | Jan 8, 2024 |
| Retinitis pigmentosa 49 | 1 | Oct 1, 2022 |
| Retinitis pigmentosa 57 | 1 | Oct 1, 2022 |
| Retinitis pigmentosa 90 | 1 | Jul 18, 2023 |
| Retinoblastoma | 1 | Oct 1, 2022 |
| Rett syndrome | 7 | May 29, 2023 |
| Rett syndrome, congenital variant | 2 | Oct 1, 2022 |
| Rotor syndrome | 1 | May 29, 2023 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 3 | Jul 17, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Jul 17, 2024 |
| SCN1A-related channelopathy | 1 | Jan 31, 2022 |
| SHORT syndrome | 1 | Oct 9, 2021 |
| SSR4-congenital disorder of glycosylation | 1 | Jul 18, 2023 |
| SYNGAP1-related encephalopathy | 1 | Jan 31, 2022 |
| Sandhoff disease | 4 | Jun 11, 2024 |
| Schaaf-Yang syndrome | 1 | Mar 6, 2019 |
| Schwannomatosis 1 | 1 | May 29, 2023 |
| Seizures, benign familial neonatal, 1 | 1 | Mar 27, 2020 |
| Severe X-linked myotubular myopathy | 4 | Jul 18, 2023 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 2 | Oct 1, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2 | Jun 11, 2024 |
| Severe early-childhood-onset retinal dystrophy | 6 | Jul 18, 2023 |
| Severe myoclonic epilepsy in infancy | 11 | Jul 17, 2024 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Jul 18, 2023 |
| Short stature due to growth hormone secretagogue receptor deficiency | 1 | Oct 9, 2021 |
| Short stature with nonspecific skeletal abnormalities | 1 | Oct 9, 2021 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Oct 9, 2021 |
| Shprintzen-Goldberg syndrome | 1 | Jul 17, 2024 |
| Shwachman-Diamond syndrome 1 | 2 | Oct 9, 2021 |
| Sialic acid storage disease, severe infantile type | 1 | Jun 11, 2024 |
| Sifrim-Hitz-Weiss syndrome | 2 | Jul 17, 2024 |
| Sjögren-Larsson syndrome | 2 | Jun 11, 2024 |
| Smith-Lemli-Opitz syndrome | 8 | Jun 11, 2024 |
| Snijders Blok-Campeau syndrome | 2 | Jul 17, 2024 |
| Sotos syndrome | 13 | Jul 17, 2024 |
| Spastic paraplegia 52, autosomal recessive | 1 | Oct 1, 2022 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 1 | Jul 17, 2024 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Oct 1, 2022 |
| Spinocerebellar ataxia type 10 | 1 | Oct 1, 2022 |
| Spinocerebellar ataxia type 15/16 | 1 | Oct 9, 2021 |
| Spinocerebellar ataxia type 35 | 2 | Jul 17, 2024 |
| Split hand-foot malformation 4 | 1 | Oct 9, 2021 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Oct 9, 2021 |
| Spondyloepimetaphyseal dysplasia, Maroteaux type | 1 | Jul 18, 2023 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 | Oct 9, 2021 |
| Spondyloepiphyseal dysplasia congenita | 1 | Jul 17, 2024 |
| Spondylometaphyseal dysplasia, Kozlowski type | 2 | Jul 17, 2024 |
| Spondyloperipheral dysplasia | 5 | Jul 18, 2023 |
| Spongy degeneration of central nervous system | 1 | Jun 11, 2024 |
| Stickler syndrome type 1 | 2 | Jul 17, 2024 |
| Stickler syndrome type 2 | 1 | Mar 6, 2019 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Mar 6, 2019 |
| Stüve-Wiedemann syndrome 1 | 1 | Oct 1, 2022 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Jul 18, 2023 |
| Supravalvar aortic stenosis | 1 | Jul 18, 2023 |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | 2 | Jun 11, 2024 |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 1 | Mar 27, 2020 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Jul 17, 2024 |
| Tay-Sachs disease | 2 | Jun 11, 2024 |
| Teebi hypertelorism syndrome 1 | 1 | Oct 1, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Oct 9, 2021 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 3 | Oct 9, 2021 |
| Thrombocytopenia 1 | 1 | Jul 17, 2024 |
| Thrombocytopenia 12 with or without myopathy | 1 | Jun 11, 2024 |
| Thrombocytopenia 4 | 1 | Oct 1, 2022 |
| Thrombocytopenia 9 | 1 | Jul 17, 2024 |
| Tooth agenesis, selective, 4 | 1 | Oct 9, 2021 |
| Trichorhinophalangeal dysplasia type I | 2 | Oct 1, 2022 |
| Trigonocephaly 1 | 1 | Oct 9, 2021 |
| Trigonocephaly 2 | 1 | Mar 6, 2019 |
| Tuberous sclerosis 1 | 3 | Jul 24, 2022 |
| Tuberous sclerosis 2 | 1 | Oct 1, 2022 |
| Tyrosinase-negative oculocutaneous albinism | 3 | Oct 9, 2021 |
| Tyrosinemia type I | 1 | Jun 11, 2024 |
| Ullrich congenital muscular dystrophy 1A | 4 | Oct 9, 2021 |
| Usher syndrome type 1C | 3 | Jun 11, 2024 |
| Usher syndrome type 1D | 3 | Jun 11, 2024 |
| Usher syndrome type 2A | 12 | Jul 17, 2024 |
| Very long chain acyl-CoA dehydrogenase deficiency | 4 | Jul 17, 2024 |
| Vitamin D-dependent rickets, type 1A | 2 | Jul 18, 2023 |
| WDR73-related disorder | 1 | May 29, 2023 |
| Waardenburg syndrome type 1 | 2 | Oct 1, 2022 |
| Warsaw breakage syndrome | 1 | Oct 9, 2021 |
| Weiss-Kruszka syndrome | 1 | Jul 18, 2023 |
| White-Kernohan syndrome | 1 | Oct 1, 2022 |
| Wiedemann-Steiner syndrome | 1 | Jul 18, 2023 |
| Williams syndrome | 1 | May 29, 2023 |
| Wilson disease | 12 | Jun 11, 2024 |
| Wiskott-Aldrich syndrome | 1 | Oct 9, 2021 |
| Wolfram syndrome 1 | 2 | Oct 9, 2021 |
| X-linked Alport syndrome | 9 | Oct 1, 2022 |
| X-linked Opitz G/BBB syndrome | 3 | Jul 17, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Oct 1, 2022 |
| X-linked chondrodysplasia punctata 1 | 1 | Jul 17, 2024 |
| X-linked cone-rod dystrophy 1 | 2 | Oct 1, 2022 |
| X-linked cone-rod dystrophy 3 | 1 | Oct 1, 2022 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 2 | Jul 17, 2024 |
| X-linked intellectual disability with marfanoid habitus | 1 | Mar 6, 2019 |
| X-linked intellectual disability, Cantagrel type | 1 | Oct 9, 2021 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Oct 9, 2021 |
| X-linked sideroblastic anemia 1 | 1 | Oct 9, 2021 |
| Xeroderma pigmentosum group A | 2 | Jun 11, 2024 |
| Xeroderma pigmentosum, group C | 1 | Jun 11, 2024 |
| Zimmermann-Laband syndrome 2 | 2 | Jul 18, 2023 |
| not provided | 2 | May 29, 2023 |
| von Willebrand disease type 1 | 1 | Jul 18, 2023 |
