| 3-Methylglutaconic aciduria type 3 | 1 | Mar 27, 2021 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 1 | Jan 4, 2022 |
| 3-methylglutaconic aciduria type 1 | 2 | Jan 4, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | May 29, 2024 |
| 3M syndrome 2 | 3 | May 10, 2022 |
| 46,XY sex reversal 3 | 1 | Jan 4, 2022 |
| ACCES syndrome | 1 | Aug 3, 2024 |
| ACTA1-related congenital myopathy disorders | 1 | Aug 29, 2024 |
| AGO1-related neurodevelopmental disorder | 1 | Mar 1, 2023 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Apr 5, 2024 |
| ALG11-congenital disorder of glycosylation | 1 | Nov 7, 2022 |
| ALG12-congenital disorder of glycosylation | 1 | Jul 29, 2022 |
| ALS2-related disorder | 1 | Jun 29, 2024 |
| Abetalipoproteinaemia | 1 | Oct 1, 2024 |
| Achondrogenesis type II | 2 | May 10, 2022 |
| Achondrogenesis, type IA | 1 | Feb 4, 2022 |
| Achondroplasia | 6 | Sep 5, 2022 |
| Acid sphingomyelinase deficiency | 1 | Jul 29, 2022 |
| Acrodermatitis continua suppurativa of Hallopeau | 1 | Apr 9, 2025 |
| Acromesomelic dysplasia 1, Maroteaux type | 5 | Sep 6, 2022 |
| Acromesomelic dysplasia 3 | 2 | Jun 9, 2023 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 2 | Mar 26, 2025 |
| Acute intermittent porphyria | 1 | Oct 24, 2024 |
| Acute myeloid leukemia | 1 | Jan 4, 2022 |
| Adams-Oliver syndrome 5 | 1 | Jul 27, 2022 |
| Adrenoleukodystrophy | 1 | Apr 6, 2024 |
| Agammaglobulinemia 3, autosomal recessive | 1 | Mar 27, 2021 |
| Aicardi-Goutieres syndrome 1 | 2 | May 9, 2025 |
| Aicardi-Goutieres syndrome 3 | 2 | Jan 3, 2025 |
| Aicardi-Goutieres syndrome 5 | 1 | Jan 4, 2022 |
| Alexander disease | 3 | Jul 22, 2024 |
| Alkaptonuria | 1 | Aug 30, 2023 |
| Alport syndrome 3b, autosomal recessive | 3 | Jul 4, 2024 |
| Amyloidosis, primary localized cutaneous, 3 | 1 | Aug 30, 2023 |
| Anauxetic dysplasia 2 | 1 | Jan 4, 2022 |
| Anauxetic dysplasia 3 | 1 | May 10, 2022 |
| Andersen Tawil syndrome | 1 | Mar 13, 2024 |
| Angelman syndrome | 1 | Jan 4, 2022 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 1 | May 10, 2022 |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 1 | Mar 13, 2024 |
| Arginase deficiency | 3 | May 21, 2024 |
| Arthrogryposis multiplex congenita | 1 | May 20, 2019 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | May 27, 2025 |
| Arthrogryposis, distal, with impaired proprioception and touch | 1 | Jan 4, 2022 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 3 | Jan 4, 2022 |
| Asphyxiating thoracic dystrophy 3 | 2 | Jan 4, 2022 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 1 | Apr 1, 2025 |
| Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability | 1 | Aug 2, 2021 |
| Ataxia-telangiectasia syndrome | 11 | Jan 23, 2025 |
| Atransferrinemia | 2 | Aug 6, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Jul 21, 2023 |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 | Jul 21, 2022 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Oct 3, 2023 |
| Autoimmune lymphoproliferative syndrome type 4 | 1 | Jun 28, 2022 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 1 | Aug 30, 2023 |
| Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | 1 | Aug 30, 2023 |
| Autosomal dominant centronuclear myopathy | 1 | May 20, 2019 |
| Autosomal dominant distal renal tubular acidosis | 1 | Oct 3, 2024 |
| Autosomal dominant hypophosphatemic rickets | 1 | Dec 28, 2023 |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Dec 7, 2023 |
| Autosomal recessive Alport syndrome | 2 | Jun 6, 2025 |
| Autosomal recessive congenital ichthyosis 2 | 1 | Jul 22, 2023 |
| Autosomal recessive congenital ichthyosis 4B | 2 | Jun 28, 2023 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Jan 4, 2022 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 2 | Mar 5, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 7 | Dec 23, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Jul 22, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 | Apr 1, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 | Jan 4, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Oct 24, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 | Jan 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Feb 21, 2024 |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Jun 12, 2025 |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 | May 6, 2025 |
| Autosomal recessive osteopetrosis 1 | 2 | Jun 3, 2022 |
| Autosomal recessive osteopetrosis 4 | 2 | Dec 9, 2023 |
| Autosomal recessive osteopetrosis 7 | 1 | Jun 30, 2023 |
| Autosomal recessive osteopetrosis 8 | 1 | Apr 28, 2022 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 | May 9, 2022 |
| Autosomal recessive spastic paraplegia type 78 | 1 | Aug 10, 2024 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Nov 14, 2016 |
| Autosomal systemic lupus erythematosus type 16 | 1 | Jul 14, 2022 |
| BCL11B-related disorder | 1 | Apr 16, 2024 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Jan 1, 2025 |
| Bardet-Biedl syndrome 1 | 1 | Aug 31, 2024 |
| Bardet-Biedl syndrome 10 | 1 | Jan 4, 2022 |
| Bardet-Biedl syndrome 2 | 1 | Jul 4, 2024 |
| Bardet-Biedl syndrome 8 | 2 | May 27, 2022 |
| Bartter disease type 3 | 2 | Mar 4, 2025 |
| Basal cell nevus syndrome 1 | 1 | Dec 11, 2024 |
| Beta-thalassemia major | 2 | Dec 14, 2021 |
| Bethlem myopathy 1A | 3 | Jul 1, 2024 |
| Bethlem myopathy 1B | 1 | Oct 24, 2024 |
| Bilateral frontoparietal polymicrogyria | 1 | Oct 20, 2021 |
| Biotin-responsive basal ganglia disease | 4 | Oct 24, 2024 |
| Biotinidase deficiency | 5 | Jul 22, 2024 |
| Blau syndrome | 2 | Aug 30, 2023 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Jan 4, 2022 |
| Bohring-Opitz syndrome | 1 | Nov 17, 2022 |
| Bone osteosarcoma | 1 | Oct 3, 2024 |
| Brachydactyly type A1A | 1 | Jan 4, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Jul 9, 2022 |
| Brittle cornea syndrome 2 | 1 | Nov 4, 2023 |
| C1Q deficiency | 2 | Aug 30, 2023 |
| CARASIL syndrome | 1 | Jan 4, 2022 |
| CEDNIK syndrome | 1 | Jan 4, 2022 |
| CHARGE syndrome | 3 | Oct 24, 2024 |
| CODAS syndrome | 2 | Jan 4, 2022 |
| COG8-congenital disorder of glycosylation | 1 | Jan 30, 2023 |
| Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia | 1 | Dec 14, 2021 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 7 | Aug 30, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Oct 8, 2024 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Aug 9, 2022 |
| Cardioacrofacial dysplasia 1 | 1 | May 10, 2022 |
| Cardiofaciocutaneous syndrome 3 | 1 | Sep 22, 2023 |
| Cardiomyopathy, dilated, 2D | 1 | May 21, 2025 |
| Cardiospondylocarpofacial syndrome | 1 | Feb 12, 2022 |
| Cataract 48 | 1 | Aug 20, 2024 |
| Central core myopathy | 1 | Oct 24, 2024 |
| Cerebellar ataxia-hypogonadism syndrome | 1 | Mar 10, 2022 |
| Ceroid lipofuscinosis, neuronal, 6A | 2 | Aug 16, 2021 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Jun 5, 2025 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Feb 5, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Aug 4, 2023 |
| Charcot-Marie-Tooth disease type 2Y | 1 | Jan 4, 2022 |
| Charcot-Marie-Tooth disease type 4G | 2 | Apr 9, 2024 |
| Charcot-Marie-Tooth disease type 4K | 1 | Aug 9, 2024 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | May 5, 2021 |
| Cholestanol storage disease | 4 | Dec 23, 2024 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | Aug 17, 2021 |
| Chondrodysplasia punctata 2 X-linked dominant | 2 | May 10, 2022 |
| Chondrodysplasia-pseudohermaphroditism syndrome | 1 | Mar 27, 2021 |
| Chondrosarcoma | 1 | Dec 30, 2023 |
| Chopra-Amiel-Gordon syndrome | 1 | Jan 4, 2022 |
| Chorea-acanthocytosis | 1 | Oct 25, 2024 |
| Chromosome 17q12 deletion syndrome | 1 | Apr 7, 2025 |
| Chromosome 2p16.3 deletion syndrome | 1 | Nov 18, 2024 |
| Citrullinemia type I | 2 | Aug 10, 2024 |
| Cleidocranial dysostosis | 1 | Jul 19, 2023 |
| Cobalamin C disease | 1 | Apr 17, 2024 |
| Cockayne syndrome type 1 | 2 | Jan 30, 2023 |
| Cockayne syndrome type 2 | 1 | Jan 14, 2022 |
| Coffin-Lowry syndrome | 1 | Jan 4, 2022 |
| Coffin-Siris syndrome 1 | 1 | Jan 31, 2021 |
| Coffin-Siris syndrome 11 | 1 | Sep 11, 2021 |
| Cohen syndrome | 2 | Aug 6, 2024 |
| Coloboma, ocular, autosomal dominant | 1 | Mar 27, 2021 |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 1 | Apr 9, 2025 |
| Combined PSAP deficiency | 1 | Feb 8, 2024 |
| Combined immunodeficiency due to DOCK8 deficiency | 1 | Dec 14, 2021 |
| Combined immunodeficiency due to LRBA deficiency | 3 | Aug 29, 2024 |
| Combined malonic and methylmalonic acidemia | 2 | Jun 22, 2022 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 | Dec 11, 2024 |
| Combined oxidative phosphorylation defect type 13 | 1 | Jan 31, 2021 |
| Combined oxidative phosphorylation deficiency 36 | 2 | May 27, 2025 |
| Combined oxidative phosphorylation deficiency 56 | 1 | Mar 27, 2025 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Jan 4, 2022 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Jan 30, 2023 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Dec 15, 2021 |
| Congenital afibrinogenemia | 1 | Jan 9, 2025 |
| Congenital anomalies of kidney and urinary tract 1 | 1 | May 27, 2025 |
| Congenital contractural arachnodactyly | 1 | Jan 30, 2023 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | May 28, 2025 |
| Congenital diarrhea 7 with exudative enteropathy | 1 | Feb 1, 2022 |
| Congenital disorder of glycosylation, type iit | 1 | May 6, 2021 |
| Congenital factor V deficiency | 1 | Jan 1, 2025 |
| Congenital hyperammonemia, type I | 1 | Aug 29, 2024 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 1 | Jan 4, 2022 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 4 | Jan 4, 2022 |
| Congenital myasthenic syndrome 10 | 1 | Jan 4, 2022 |
| Congenital myasthenic syndrome 11 | 1 | Jan 4, 2022 |
| Congenital myasthenic syndrome 4C | 1 | Aug 7, 2023 |
| Congenital myasthenic syndrome 8 | 2 | Jan 4, 2022 |
| Congenital myotonia, autosomal recessive form | 2 | Oct 8, 2024 |
| Congenital nonspherocytic hemolytic anemia | 1 | May 9, 2025 |
| Congenital sensorineural hearing impairment | 1 | May 23, 2018 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 | Oct 6, 2022 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 3 | Oct 15, 2024 |
| Cornelia de Lange syndrome 1 | 3 | Sep 17, 2024 |
| Cortical dysplasia, complex, with other brain malformations 9 | 1 | Dec 16, 2024 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 | Jan 4, 2022 |
| Curry-Hall syndrome | 1 | Jan 31, 2021 |
| Cutis laxa, X-linked | 1 | Aug 16, 2024 |
| Cutis laxa, autosomal recessive, type 1B | 2 | Sep 20, 2024 |
| Cyclical neutropenia | 1 | Mar 14, 2022 |
| Cystic fibrosis | 5 | Aug 30, 2023 |
| DAP3-related disorder | 1 | Jan 14, 2025 |
| DPAGT1-congenital disorder of glycosylation | 1 | Mar 27, 2025 |
| DYRK1A-related intellectual disability syndrome | 1 | May 6, 2021 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 | Sep 10, 2022 |
| Deficiency of acetyl-CoA acetyltransferase | 3 | Jan 4, 2022 |
| Deficiency of cytochrome-b5 reductase | 1 | Feb 21, 2023 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Jan 4, 2022 |
| Deficiency of iodide peroxidase | 1 | Sep 13, 2023 |
| Deficiency of ribose-5-phosphate isomerase | 1 | Jan 4, 2022 |
| Deficiency of steroid 11-beta-monooxygenase | 1 | Jul 27, 2022 |
| Dermatofibrosis lenticularis disseminata | 1 | May 23, 2022 |
| Desbuquois dysplasia 1 | 1 | Mar 10, 2022 |
| Developmental and epileptic encephalopathy | 1 | Sep 5, 2022 |
| Developmental and epileptic encephalopathy 106 | 1 | May 9, 2025 |
| Developmental and epileptic encephalopathy 6B | 1 | Jan 17, 2022 |
| Developmental and epileptic encephalopathy, 11 | 1 | Jan 30, 2023 |
| Developmental and epileptic encephalopathy, 14 | 3 | Oct 15, 2023 |
| Developmental and epileptic encephalopathy, 16 | 1 | Jul 10, 2024 |
| Developmental and epileptic encephalopathy, 2 | 1 | Dec 14, 2021 |
| Developmental and epileptic encephalopathy, 23 | 1 | Jan 29, 2022 |
| Developmental and epileptic encephalopathy, 25 | 2 | Jul 30, 2024 |
| Developmental and epileptic encephalopathy, 27 | 1 | Sep 7, 2024 |
| Developmental and epileptic encephalopathy, 28 | 1 | Sep 10, 2022 |
| Developmental and epileptic encephalopathy, 31A | 1 | Sep 24, 2022 |
| Developmental and epileptic encephalopathy, 35 | 1 | Oct 10, 2023 |
| Developmental and epileptic encephalopathy, 38 | 1 | Mar 1, 2024 |
| Developmental and epileptic encephalopathy, 39 | 1 | Jun 23, 2022 |
| Developmental and epileptic encephalopathy, 4 | 3 | Oct 15, 2023 |
| Developmental and epileptic encephalopathy, 42 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 47 | 2 | Sep 22, 2023 |
| Developmental and epileptic encephalopathy, 48 | 1 | May 6, 2021 |
| Developmental and epileptic encephalopathy, 65 | 1 | May 6, 2021 |
| Developmental and epileptic encephalopathy, 7 | 1 | Jan 4, 2022 |
| Developmental and epileptic encephalopathy, 74 | 1 | Mar 1, 2023 |
| Developmental and epileptic encephalopathy, 78 | 1 | May 21, 2024 |
| Developmental and epileptic encephalopathy, 81 | 1 | Oct 15, 2023 |
| Developmental and epileptic encephalopathy, 84 | 1 | Jan 31, 2021 |
| Developmental and epileptic encephalopathy, 90 | 1 | Jul 24, 2021 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Sep 30, 2022 |
| Developmental delay, hypotonia, and impaired language | 1 | Mar 29, 2025 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Feb 16, 2022 |
| Diabetes mellitus, permanent neonatal 4 | 1 | Jan 3, 2025 |
| Diaphanospondylodysostosis | 1 | May 10, 2022 |
| Diaphyseal dysplasia | 1 | May 23, 2022 |
| Diarrhea 11, malabsorptive, congenital | 1 | May 11, 2024 |
| Dias-Logan syndrome | 1 | Jun 27, 2023 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | May 5, 2021 |
| Distal arthrogryposis type 5D | 2 | Jan 2, 2025 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Jan 4, 2022 |
| Duchenne muscular dystrophy | 6 | Aug 6, 2024 |
| Dyggve-Melchior-Clausen syndrome | 3 | Sep 8, 2022 |
| Dyskeratosis congenita, X-linked | 2 | Mar 14, 2022 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Aug 17, 2021 |
| EAST syndrome | 1 | May 6, 2021 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 | Jan 4, 2022 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 3 | May 10, 2022 |
| Ectodermal dysplasia and immunodeficiency 2 | 1 | Aug 30, 2023 |
| Ectodermal dysplasia-syndactyly syndrome 1 | 1 | Mar 7, 2025 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Jan 30, 2023 |
| Ehlers-Danlos syndrome, musculocontractural type 1 | 1 | May 27, 2025 |
| Eiken syndrome | 2 | May 17, 2019 |
| Ellis-van Creveld syndrome | 3 | May 10, 2022 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Dec 26, 2024 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | Dec 14, 2021 |
| Enchondromatosis | 2 | May 10, 2022 |
| Epidermolysis bullosa pruriginosa | 2 | Aug 16, 2024 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 1 | Jun 26, 2024 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 | Jan 4, 2022 |
| Epidermolysis bullosa simplex with nail dystrophy | 1 | May 25, 2022 |
| Epidermolysis bullosa, junctional 2B, severe | 1 | May 23, 2022 |
| Epidermolysis bullosa, junctional 3B, severe | 1 | May 25, 2022 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Oct 3, 2024 |
| Episodic ataxia type 2 | 1 | Jan 4, 2022 |
| Ethylmalonic encephalopathy | 1 | Dec 5, 2022 |
| Exostoses, multiple, type 1 | 1 | Jul 27, 2024 |
| FGFR2-related craniosynostosis | 1 | Aug 10, 2022 |
| FRAXE | 1 | Jan 4, 2022 |
| Fabry disease | 1 | Jan 4, 2022 |
| Factor I deficiency | 1 | Feb 28, 2025 |
| Familial Mediterranean fever, autosomal dominant | 1 | Jan 4, 2022 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 11 | Feb 3, 2025 |
| Familial adenomatous polyposis 1 | 1 | Jul 10, 2024 |
| Familial hemophagocytic lymphohistiocytosis 3 | 1 | Apr 2, 2025 |
| Familial hemophagocytic lymphohistiocytosis 5 | 1 | Aug 30, 2023 |
| Familial hypokalemia-hypomagnesemia | 2 | May 5, 2025 |
| Familial infantile myasthenia | 1 | Jan 3, 2025 |
| Familial medullary thyroid carcinoma | 1 | Jan 4, 2022 |
| Familial myelofibrosis | 1 | Feb 6, 2023 |
| Familial renal glucosuria | 1 | Sep 28, 2023 |
| Fanconi anemia complementation group A | 3 | Jun 6, 2024 |
| Fanconi anemia complementation group D1 | 1 | Jan 4, 2022 |
| Fanconi anemia complementation group L | 2 | May 9, 2025 |
| Fanconi anemia, complementation group S | 2 | Jan 4, 2025 |
| Fanconi-Bickel syndrome | 1 | Dec 20, 2022 |
| Fatal multiple mitochondrial dysfunctions syndrome | 1 | Jan 31, 2017 |
| Filippi syndrome | 1 | Mar 7, 2025 |
| Finnish congenital nephrotic syndrome | 1 | Dec 22, 2023 |
| Floating-Harbor syndrome | 1 | Jul 27, 2022 |
| Foveal hypoplasia 3 | 1 | Nov 23, 2024 |
| Fraser syndrome 1 | 1 | Jan 4, 2022 |
| Fructose-biphosphatase deficiency | 1 | Jan 4, 2022 |
| Fucosidosis | 1 | May 6, 2021 |
| GNE myopathy | 2 | Aug 5, 2023 |
| GNPTG-mucolipidosis | 1 | Sep 29, 2023 |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 1 | Jul 11, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 8 | Sep 13, 2023 |
| Galloway-Mowat syndrome 1 | 1 | Jul 22, 2024 |
| Galloway-Mowat syndrome 5 | 1 | Feb 5, 2024 |
| Gaucher disease type I | 1 | Jan 4, 2022 |
| Gaucher disease type II | 2 | Dec 13, 2023 |
| Gaucher disease type III | 1 | Jun 24, 2023 |
| Geleophysic dysplasia 1 | 1 | Jul 22, 2023 |
| Geleophysic dysplasia 2 | 1 | Jan 4, 2022 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | Jan 4, 2022 |
| Ghosal hematodiaphyseal dysplasia | 1 | Jul 14, 2022 |
| Gilbert syndrome | 2 | Sep 3, 2024 |
| Global developmental delay | 1 | Jan 14, 2025 |
| Glucose-6-phosphate transport defect | 2 | Aug 27, 2024 |
| Glutaric aciduria, type 1 | 3 | Jan 4, 2022 |
| Glycine encephalopathy | 1 | Jan 4, 2022 |
| Glycogen storage disease IXa1 | 1 | Aug 8, 2024 |
| Glycogen storage disease IXc | 2 | Jan 4, 2022 |
| Glycogen storage disease type III | 2 | Jan 4, 2022 |
| Glycogen storage disease, type IV | 2 | Jan 4, 2022 |
| Glycogen storage disease, type V | 2 | Jan 4, 2022 |
| Glycogen storage disease, type VI | 1 | Mar 7, 2025 |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 1 | Jan 4, 2022 |
| Gorlin syndrome | 2 | Jan 7, 2022 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 | Feb 28, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 | Jul 14, 2022 |
| Greig cephalopolysyndactyly syndrome | 1 | May 10, 2022 |
| Griscelli syndrome type 1 | 1 | Sep 2, 2022 |
| Griscelli syndrome type 2 | 1 | Feb 7, 2024 |
| H syndrome | 1 | Jun 28, 2022 |
| Hematuria, benign familial, 1 | 1 | Dec 23, 2024 |
| Hemochromatosis type 2A | 1 | May 27, 2022 |
| Hemoglobin E/beta- thalassemia | 2 | Apr 3, 2025 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 | Dec 26, 2024 |
| Hereditary breast ovarian cancer syndrome | 1 | Dec 13, 2021 |
| Hereditary spastic paraplegia | 1 | Jun 23, 2017 |
| Hereditary spastic paraplegia 11 | 2 | Nov 4, 2023 |
| Hereditary spastic paraplegia 2 | 1 | Jan 4, 2022 |
| Hereditary spastic paraplegia 4 | 1 | Jul 1, 2024 |
| Hereditary spastic paraplegia 43 | 1 | Jan 4, 2022 |
| Hereditary spastic paraplegia 47 | 1 | Jan 4, 2022 |
| Hereditary spastic paraplegia 52 | 1 | Jan 31, 2021 |
| Hereditary spastic paraplegia 54 | 1 | Mar 26, 2025 |
| Hereditary spastic paraplegia 56 | 2 | Feb 21, 2023 |
| Hereditary spherocytosis type 1 | 1 | Jul 27, 2022 |
| Hereditary spherocytosis type 2 | 1 | Jan 4, 2022 |
| Heterotopia, periventricular, X-linked dominant | 1 | Jan 4, 2022 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 4 | May 23, 2022 |
| Human HOXA1 syndromes | 1 | Jan 4, 2022 |
| Hurler syndrome | 3 | Jan 10, 2025 |
| Hutchinson-Gilford syndrome | 1 | Apr 13, 2024 |
| Hyaline fibromatosis syndrome | 1 | Jan 4, 2022 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Jan 4, 2022 |
| Hyper-IgM syndrome type 1 | 1 | Dec 14, 2021 |
| Hypercholesterolemia, familial, 1 | 1 | Jul 30, 2024 |
| Hyperimmunoglobulin D with periodic fever | 2 | Jul 14, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Jan 4, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 1 | Aug 8, 2024 |
| Hyperlipidemia, familial combined, LPL related | 1 | Aug 9, 2024 |
| Hyperlipoproteinemia, type 1D | 1 | Jun 24, 2024 |
| Hyperlipoproteinemia, type I | 2 | Mar 28, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Jan 4, 2022 |
| Hypertrophic cardiomyopathy 1 | 2 | Aug 20, 2024 |
| Hypertrophic cardiomyopathy 26 | 1 | Jan 21, 2022 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 2 | Jan 4, 2022 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 3 | Jul 22, 2023 |
| Hypochondroplasia | 4 | May 17, 2023 |
| Hypokalemic periodic paralysis, type 1 | 1 | Jan 4, 2022 |
| Hypomyelinating leukodystrophy 11 | 3 | Mar 21, 2022 |
| Hypomyelinating leukodystrophy 2 | 4 | Sep 7, 2024 |
| Hypomyelinating leukodystrophy 6 | 2 | Sep 5, 2024 |
| Hypophosphatemic rickets | 1 | Mar 12, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Jul 31, 2021 |
| Hypotrichosis 8 | 2 | Mar 26, 2025 |
| Immunodeficiency 67 | 1 | Aug 30, 2023 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Feb 9, 2023 |
| Infantile GM1 gangliosidosis | 10 | Aug 5, 2023 |
| Infantile convulsions and choreoathetosis | 1 | Oct 15, 2023 |
| Infantile hypophosphatasia | 1 | Oct 30, 2023 |
| Infantile nephronophthisis | 2 | Jan 4, 2022 |
| Intellectual developmental disorder 62 | 2 | Jul 27, 2023 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Feb 9, 2024 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | Jan 4, 2022 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 | Jan 4, 2022 |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | 1 | Mar 27, 2025 |
| Intellectual developmental disorder with seizures and language delay | 1 | Nov 9, 2022 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Sep 5, 2024 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 3 | Dec 21, 2022 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 | Jul 18, 2023 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 3 | Feb 28, 2025 |
| Intellectual disability, X-linked 102 | 1 | Sep 17, 2024 |
| Intellectual disability, X-linked 58 | 1 | Mar 6, 2025 |
| Intellectual disability, X-linked 63 | 1 | Jan 4, 2022 |
| Intellectual disability, X-linked 93 | 1 | Jan 30, 2023 |
| Intellectual disability, X-linked, syndromic, Bain type | 2 | Aug 14, 2023 |
| Intellectual disability, autosomal dominant 13 | 1 | May 6, 2021 |
| Intellectual disability, autosomal dominant 16 | 1 | Jun 7, 2022 |
| Intellectual disability, autosomal dominant 20 | 2 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 22 | 3 | Jan 30, 2023 |
| Intellectual disability, autosomal dominant 29 | 1 | May 5, 2021 |
| Intellectual disability, autosomal dominant 43 | 1 | Oct 1, 2021 |
| Intellectual disability, autosomal dominant 6 | 1 | Apr 13, 2024 |
| Intellectual disability, autosomal dominant 9 | 1 | May 19, 2025 |
| Intellectual disability, autosomal recessive 13 | 1 | May 10, 2022 |
| Intellectual disability, autosomal recessive 57 | 1 | Oct 15, 2023 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 | May 5, 2025 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Jan 30, 2023 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 | Jan 30, 2023 |
| Intestinal hypomagnesemia 1 | 1 | Apr 3, 2023 |
| Isovaleryl-CoA dehydrogenase deficiency | 1 | Mar 29, 2025 |
| Joint contractures, osteochondromas, and B-cell lymphoma | 1 | Mar 27, 2025 |
| Joubert syndrome | 1 | Jul 6, 2017 |
| Joubert syndrome 17 | 1 | Jan 4, 2022 |
| Joubert syndrome 2 | 1 | Jan 31, 2025 |
| Joubert syndrome 3 | 1 | Aug 31, 2024 |
| Joubert syndrome 33 | 1 | Jan 4, 2022 |
| Joubert syndrome 36 | 1 | Apr 23, 2024 |
| Joubert syndrome 6 | 1 | Jan 4, 2022 |
| Joubert syndrome 9 | 1 | Jan 30, 2023 |
| Junctional epidermolysis bullosa gravis of Herlitz | 1 | Jan 4, 2022 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Jan 4, 2022 |
| Juvenile arthritis due to defect in LACC1 | 2 | May 23, 2022 |
| KBG syndrome | 3 | Mar 15, 2024 |
| KCNK18-related neurodevelopmental disorder | 1 | Jan 9, 2023 |
| KCNQ2-related disorder | 1 | Oct 15, 2023 |
| Kabuki syndrome 1 | 2 | Apr 23, 2025 |
| Keipert syndrome | 1 | Jun 26, 2024 |
| Kindler syndrome | 1 | Mar 22, 2023 |
| Kniest dysplasia | 2 | Jan 4, 2022 |
| Knobloch syndrome | 1 | Jan 4, 2022 |
| Koolen-de Vries syndrome | 1 | Apr 7, 2025 |
| L-2-hydroxyglutaric aciduria | 1 | Oct 7, 2021 |
| LRRC45 associated neurological ciliopathy | 1 | Jan 4, 2025 |
| Landau-Kleffner syndrome | 1 | Oct 15, 2023 |
| Laron-type isolated somatotropin defect | 3 | Jul 9, 2024 |
| Larsen syndrome | 2 | Jan 22, 2022 |
| Lazy leukocyte syndrome | 1 | Jan 21, 2022 |
| Leber optic atrophy | 1 | Jul 8, 2021 |
| Leigh syndrome | 1 | Jan 4, 2022 |
| Lenz-Majewski hyperostosis syndrome | 1 | Jan 4, 2022 |
| Lesch-Nyhan syndrome | 1 | Jul 27, 2023 |
| Lethal congenital contracture syndrome 9 | 1 | Feb 26, 2022 |
| Lethal multiple pterygium syndrome | 1 | Sep 13, 2024 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Aug 29, 2024 |
| Leukodystrophy, hypomyelinating, 17 | 1 | Jan 4, 2022 |
| Leukodystrophy, hypomyelinating, 18 | 1 | Apr 28, 2022 |
| Leukodystrophy, hypomyelinating, 25 | 1 | Sep 11, 2023 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Oct 18, 2021 |
| Leukoencephalopathy with vanishing white matter 3 | 1 | Dec 2, 2023 |
| Li-Fraumeni syndrome 1 | 1 | Mar 29, 2025 |
| Liberfarb syndrome | 1 | Jan 4, 2022 |
| Lissencephaly due to TUBA1A mutation | 2 | May 14, 2025 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Jan 30, 2023 |
| Loeys-Dietz syndrome 1 | 2 | Jan 4, 2022 |
| Loeys-Dietz syndrome 2 | 5 | Jan 17, 2025 |
| Lymphatic malformation 3 | 1 | Jul 21, 2022 |
| Lynch syndrome 4 | 1 | Sep 30, 2024 |
| Lysosomal acid lipase deficiency | 1 | Jan 4, 2022 |
| MASA syndrome | 1 | Feb 11, 2021 |
| MEGF8-related Carpenter syndrome | 1 | Sep 4, 2024 |
| MPDU1-congenital disorder of glycosylation | 1 | Jan 31, 2021 |
| MYPN-related myopathy | 1 | Feb 27, 2023 |
| Macrocephaly-autism syndrome | 1 | Jun 6, 2023 |
| Maffucci syndrome | 1 | May 10, 2022 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Jan 30, 2023 |
| Maple syrup urine disease | 1 | Mar 16, 2022 |
| Marfan syndrome | 19 | May 3, 2025 |
| Marshall-Smith syndrome | 1 | Sep 6, 2022 |
| Matthew-Wood syndrome | 1 | Apr 15, 2021 |
| Maturity-onset diabetes of the young type 11 | 1 | Sep 23, 2024 |
| Meckel syndrome, type 10 | 1 | Aug 7, 2019 |
| Meckel syndrome, type 3 | 1 | Aug 29, 2019 |
| Meckel syndrome, type 4 | 3 | Aug 28, 2019 |
| Meckel syndrome, type 6 | 2 | Aug 29, 2019 |
| Meckel-Gruber syndrome | 1 | Aug 7, 2019 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 2 | Jan 4, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Jan 30, 2023 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 1 | Nov 13, 2021 |
| Menkes kinky-hair syndrome | 3 | Sep 7, 2024 |
| Merosin deficient congenital muscular dystrophy | 5 | Jan 4, 2022 |
| Metachromatic leukodystrophy | 7 | Jan 4, 2022 |
| Metaphyseal chondrodysplasia, Schmid type | 5 | Sep 8, 2022 |
| Metatropic dysplasia | 2 | Jan 4, 2022 |
| Methylmalonic aciduria and homocystinuria type cblD | 1 | Jan 4, 2022 |
| Methylmalonic aciduria, cblA type | 1 | Aug 16, 2022 |
| Methylmalonic aciduria, cblB type | 2 | Jan 5, 2024 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Jan 4, 2022 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 | Jul 9, 2021 |
| Microcephaly 11, primary, autosomal recessive | 1 | Jan 4, 2022 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Jan 28, 2022 |
| Microcephaly 5, primary, autosomal recessive | 2 | Jul 21, 2022 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Mar 10, 2025 |
| Microcephaly, seizures, and developmental delay | 1 | Feb 22, 2022 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 1 | Jan 4, 2022 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Jan 4, 2022 |
| Mismatch repair cancer syndrome 2 | 1 | Jun 22, 2022 |
| Mismatch repair cancer syndrome 4 | 1 | Jan 1, 2025 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Jan 4, 2022 |
| Mitochondrial DNA depletion syndrome 11 | 1 | Jun 20, 2017 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2 | May 1, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 1 | Jan 3, 2025 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 3 | Jan 4, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 1 | Jan 4, 2022 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 2 | Apr 21, 2022 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Jan 4, 2022 |
| Mitochondrial complex III deficiency nuclear type 8 | 1 | Sep 11, 2023 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 3 | Aug 16, 2024 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 2 | Apr 19, 2022 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Jan 4, 2022 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 | Oct 15, 2023 |
| Miyoshi muscular dystrophy 1 | 1 | Mar 29, 2025 |
| Mucolipidosis type II | 3 | May 10, 2022 |
| Mucolipidosis type IV | 2 | Nov 17, 2024 |
| Mucopolysaccharidosis type 1 | 1 | Dec 31, 2024 |
| Mucopolysaccharidosis type 6 | 1 | Sep 5, 2022 |
| Mucopolysaccharidosis type 7 | 1 | Jan 3, 2025 |
| Mucopolysaccharidosis, MPS-II | 7 | Jan 30, 2023 |
| Mucopolysaccharidosis, MPS-III-B | 3 | May 10, 2022 |
| Mucopolysaccharidosis, MPS-IV-A | 12 | Aug 26, 2022 |
| Multicentric osteolysis nodulosis arthropathy spectrum | 6 | Feb 22, 2022 |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 1 | Sep 13, 2024 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Oct 1, 2024 |
| Multiple congenital exostosis | 1 | Jan 4, 2022 |
| Multiple epiphyseal dysplasia type 1 | 3 | Jan 4, 2022 |
| Multiple epiphyseal dysplasia type 4 | 1 | Jan 23, 2025 |
| Multiple mitochondrial dysfunctions syndrome 5 | 1 | Oct 4, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Jan 4, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 | Jan 4, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2 | Mar 30, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Jan 4, 2022 |
| Myasthenic syndrome, congenital, 24, presynaptic | 2 | May 28, 2025 |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 | Jan 4, 2022 |
| NAD(P)HX dehydratase deficiency | 1 | Jan 4, 2022 |
| NAV3-associated neurodevelopmental disorder | 1 | Dec 13, 2024 |
| NLRP12-associated autoinflammatory disease | 1 | Aug 30, 2023 |
| Nail-patella syndrome | 1 | Jan 4, 2022 |
| Nemaline myopathy 10 | 1 | Jan 30, 2023 |
| Nemaline myopathy 2 | 1 | Oct 3, 2024 |
| Neonatal diabetes mellitus with congenital hypothyroidism | 1 | Mar 29, 2025 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 2 | Jan 31, 2021 |
| Neonatal severe primary hyperparathyroidism | 1 | Dec 23, 2024 |
| Nephronophthisis 1 | 4 | Sep 10, 2024 |
| Nephronophthisis 16 | 1 | Oct 15, 2024 |
| Nephronophthisis 20 | 1 | Apr 24, 2025 |
| Netherton syndrome | 3 | Sep 27, 2024 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | Sep 10, 2022 |
| Neurodegeneration with brain iron accumulation 2B | 1 | Mar 14, 2022 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Aug 16, 2022 |
| Neurodegeneration with brain iron accumulation 5 | 2 | Jan 8, 2025 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Mar 9, 2023 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 1 | Aug 29, 2023 |
| Neurodevelopmental abnormality | 1 | Jun 20, 2017 |
| Neurodevelopmental disorder with absent language and variable seizures | 1 | Jan 30, 2023 |
| Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 1 | May 6, 2021 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 1 | Jul 14, 2022 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2 | Sep 10, 2022 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Jan 30, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | 1 | Apr 23, 2025 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 2 | Jun 16, 2021 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | Jul 27, 2024 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Feb 11, 2021 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Mar 7, 2025 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Feb 28, 2025 |
| Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 1 | Feb 4, 2025 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Jan 4, 2022 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 1 | Mar 4, 2025 |
| Neurofacioskeletal syndrome with or without renal agenesis | 1 | Mar 22, 2024 |
| Neurofibromatosis, type 1 | 4 | Sep 4, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Jan 4, 2022 |
| Neuronal ceroid lipofuscinosis 2 | 3 | Oct 15, 2023 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Jul 21, 2022 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 1 | Mar 7, 2025 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 1 | Feb 14, 2024 |
| Nicolaides-Baraitser syndrome | 1 | Jun 30, 2021 |
| Niemann-Pick disease, type A | 1 | Jun 22, 2024 |
| Niemann-Pick disease, type B | 1 | May 21, 2024 |
| Niemann-Pick disease, type C2 | 1 | Jan 4, 2022 |
| Noonan syndrome 1 | 1 | Oct 30, 2023 |
| Noonan syndrome 4 | 1 | Jul 22, 2024 |
| Noonan syndrome 7 | 2 | Jan 30, 2023 |
| Noonan syndrome 8 | 1 | Jan 30, 2023 |
| Norum disease | 1 | Jan 17, 2025 |
| Oculocutaneous albinism | 1 | Jun 4, 2018 |
| Oculopharyngeal muscular dystrophy | 1 | Jan 4, 2022 |
| Odontochondrodysplasia 1 | 1 | Jun 6, 2023 |
| Orofaciodigital syndrome type 6 | 1 | Jan 4, 2022 |
| Osteochondritis dissecans | 1 | Jan 4, 2022 |
| Osteogenesis imperfecta | 2 | Apr 21, 2025 |
| Osteogenesis imperfecta type 11 | 1 | Jan 8, 2025 |
| Osteogenesis imperfecta type 15 | 2 | Jan 4, 2022 |
| Osteogenesis imperfecta type 5 | 2 | Jan 6, 2025 |
| Osteogenesis imperfecta type 6 | 5 | Mar 13, 2025 |
| Osteogenesis imperfecta type 8 | 2 | Jun 9, 2023 |
| Osteogenesis imperfecta type I | 3 | Apr 28, 2022 |
| Osteogenesis imperfecta type III | 1 | Aug 4, 2022 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Mar 15, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 2 | Aug 16, 2024 |
| Osteoporosis with pseudoglioma | 1 | Jan 2, 2025 |
| Osteosclerotic metaphyseal dysplasia | 2 | May 10, 2022 |
| PCWH syndrome | 1 | May 5, 2021 |
| PERCHING syndrome | 1 | Jul 6, 2017 |
| PMM2-congenital disorder of glycosylation | 1 | Aug 31, 2024 |
| PMVK-associated autoinflammatory disorder | 1 | Mar 24, 2024 |
| POMT2-related disorder | 1 | Oct 16, 2024 |
| PSAP-related disorder | 1 | May 24, 2025 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Aug 6, 2020 |
| PYCR1- related autosomal recessive cutis laxa | 1 | Oct 3, 2024 |
| Pachyonychia congenita 3 | 1 | Sep 11, 2024 |
| Paragangliomas 4 | 1 | Dec 11, 2024 |
| Paramyotonia congenita of Von Eulenburg | 1 | Jan 21, 2025 |
| Partington syndrome | 1 | Mar 30, 2022 |
| Peeling skin syndrome 1 | 1 | Mar 28, 2023 |
| Pelizaeus-Merzbacher disease | 1 | Sep 7, 2024 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 1 | May 6, 2021 |
| Peroxisome biogenesis disorder 2B | 1 | Jan 30, 2023 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Jan 6, 2022 |
| Peroxisome biogenesis disorder 8B | 1 | Sep 14, 2023 |
| Perrault syndrome 1 | 4 | Jan 15, 2025 |
| Perrault syndrome 3 | 2 | Jan 24, 2025 |
| Pfeiffer syndrome | 1 | Aug 30, 2023 |
| Phenylketonuria | 2 | Jan 4, 2022 |
| Piebaldism | 1 | May 18, 2021 |
| Pigmentary pallidal degeneration | 3 | Feb 1, 2025 |
| Pitt-Hopkins syndrome | 1 | Oct 15, 2023 |
| Polycystic kidney disease, adult type | 5 | Jun 5, 2025 |
| Pontocerebellar hypoplasia type 2E | 1 | Jul 29, 2022 |
| Pontocerebellar hypoplasia type 6 | 1 | Oct 20, 2021 |
| Pontocerebellar hypoplasia type 9 | 1 | Jan 4, 2022 |
| Pontocerebellar hypoplasia, type 12 | 1 | Sep 13, 2024 |
| Pontocerebellar hypoplasia, type 13 | 1 | Jul 29, 2022 |
| Pontocerebellar hypoplasia, type 16 | 1 | Feb 21, 2022 |
| Primary ciliary dyskinesia 20 | 1 | Jun 29, 2024 |
| Primary ciliary dyskinesia 22 | 1 | Jan 4, 2022 |
| Primary ciliary dyskinesia 3 | 1 | Oct 11, 2022 |
| Primary ciliary dyskinesia 5 | 1 | Jan 4, 2022 |
| Primary dilated cardiomyopathy | 1 | Jul 1, 2022 |
| Primary hyperoxaluria, type I | 1 | Jan 13, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 2 | Oct 1, 2024 |
| Progressive myoclonic epilepsy type 3 | 4 | Oct 15, 2023 |
| Progressive myositis ossificans | 1 | May 7, 2025 |
| Progressive pseudorheumatoid dysplasia | 2 | May 6, 2025 |
| Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | 1 | Dec 18, 2023 |
| Prolidase deficiency | 1 | Dec 14, 2021 |
| Propionic acidemia | 3 | Jul 30, 2024 |
| Proximal 16p11.2 microdeletion syndrome | 1 | Feb 26, 2024 |
| Proximal symphalangism 1A | 1 | Jul 22, 2023 |
| Pseudo-Hurler polydystrophy | 2 | May 9, 2025 |
| Pseudo-TORCH syndrome 1 | 1 | May 6, 2021 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 10 | Dec 28, 2023 |
| Pseudohypoparathyroidism type I A | 2 | Jun 3, 2022 |
| Pulmonary hypertension, primary, 1 | 1 | Apr 5, 2024 |
| Pyknodysostosis | 4 | Jan 4, 2022 |
| Pyle metaphyseal dysplasia | 1 | Jan 4, 2022 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2 | Jan 30, 2024 |
| Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 related mitochanodrial defect | 1 | May 9, 2025 |
| Pyridoxine-dependent epilepsy | 3 | Aug 13, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Oct 20, 2021 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Oct 16, 2024 |
| Rafiq syndrome | 2 | Oct 16, 2024 |
| Rahman syndrome | 1 | Jan 1, 2025 |
| Recessive dystrophic epidermolysis bullosa | 2 | Apr 2, 2025 |
| Renal carnitine transport defect | 1 | Aug 20, 2024 |
| Renal coloboma syndrome | 1 | Jan 23, 2025 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 1 | Dec 16, 2024 |
| Retinitis pigmentosa 25 | 1 | Oct 31, 2022 |
| Retinoblastoma | 1 | Jan 4, 2022 |
| Rett syndrome | 5 | Mar 27, 2025 |
| Rett syndrome, congenital variant | 4 | Feb 14, 2025 |
| Rhizomelic dysplasia, Ain-Naz type | 1 | Aug 13, 2024 |
| Roberts-SC phocomelia syndrome | 1 | Jan 4, 2022 |
| Rubinstein-Taybi syndrome | 1 | Oct 20, 2021 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 4 | Oct 23, 2024 |
| SCN2A-mediated disorder | 1 | Jan 9, 2023 |
| SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 | 1 | Jan 4, 2022 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Jan 4, 2022 |
| Sandhoff disease | 2 | Jan 4, 2022 |
| Schaaf-Yang syndrome | 1 | Nov 18, 2024 |
| Schinzel-Giedion syndrome | 1 | Aug 20, 2024 |
| Schuurs-Hoeijmakers syndrome | 1 | Mar 28, 2023 |
| Schwartz-Jampel syndrome type 1 | 1 | Mar 15, 2024 |
| See cases | 1 | Apr 2, 2024 |
| Seizures, benign familial neonatal, 1 | 1 | Jan 4, 2022 |
| Senior-Loken syndrome 5 | 2 | Mar 29, 2025 |
| Sessile serrated polyposis cancer syndrome | 1 | May 17, 2023 |
| Severe X-linked myotubular myopathy | 1 | Apr 28, 2025 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 1 | Jul 12, 2021 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Feb 2, 2025 |
| Severe early-onset axonal neuropathy due to MFN2 deficiency | 1 | Jul 30, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Jun 27, 2023 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | Aug 1, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Mar 29, 2022 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | May 10, 2022 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 1 | May 10, 2022 |
| Short stature, microcephaly, and endocrine dysfunction | 1 | Nov 21, 2023 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Jan 4, 2022 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | May 28, 2022 |
| Short-rib thoracic dysplasia 16 with or without polydactyly | 1 | Jan 4, 2022 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 1 | Feb 4, 2022 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 3 | Oct 24, 2024 |
| Shprintzen-Goldberg syndrome | 1 | Jan 4, 2022 |
| Shukla-Vernon syndrome | 1 | Jan 4, 2022 |
| Sialidosis type 2 | 2 | Jan 4, 2022 |
| Smith-McCort dysplasia 2 | 3 | May 10, 2022 |
| Sotos syndrome | 2 | Oct 23, 2024 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | Aug 12, 2022 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 | Dec 3, 2021 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Jan 10, 2024 |
| Sphingolipid activator protein 1 deficiency | 1 | Feb 16, 2022 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Dec 11, 2024 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | Sep 13, 2024 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Jan 6, 2022 |
| Spinocerebellar ataxia 47 | 1 | Mar 4, 2023 |
| Sponastrime dysplasia | 6 | May 10, 2022 |
| Spondylocarpotarsal synostosis syndrome | 8 | Dec 23, 2024 |
| Spondylocostal dysostosis 1, autosomal recessive | 1 | Jan 4, 2022 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 | Aug 22, 2022 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 1 | Feb 14, 2022 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 1 | Oct 29, 2021 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 1 | Aug 2, 2024 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 3 | May 10, 2022 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 2 | Sep 5, 2022 |
| Spondyloepiphyseal dysplasia congenita | 4 | Nov 6, 2023 |
| Spondyloepiphyseal dysplasia tarda, X-linked | 2 | Aug 30, 2023 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 8 | Mar 12, 2024 |
| Spondylometaphyseal dysplasia, Kozlowski type | 2 | May 17, 2023 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 1 | Jan 4, 2022 |
| Spongy degeneration of central nervous system | 2 | Feb 25, 2022 |
| Steel syndrome | 2 | Oct 20, 2019 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 1 | Apr 16, 2024 |
| Striatonigral degeneration, childhood-onset | 1 | Jan 4, 2022 |
| Sulfite oxidase deficiency | 1 | Mar 22, 2022 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Oct 4, 2024 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Aug 16, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 3 | Oct 3, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Jun 27, 2023 |
| Syndromic intellectual disability | 1 | Mar 27, 2017 |
| Syndromic microphthalmia type 5 | 1 | Jan 4, 2022 |
| Synpolydactyly type 1 | 1 | Jan 4, 2022 |
| TCF12-related craniosynostosis | 1 | Aug 10, 2021 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 | Jan 4, 2022 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Jan 21, 2022 |
| TOMM7-related early onset Leigh disease | 1 | Dec 23, 2024 |
| Tay-Sachs disease | 6 | Jul 18, 2024 |
| Tetraamelia syndrome 2 | 1 | Jan 4, 2022 |
| Thanatophoric dysplasia type 1 | 1 | Jan 4, 2022 |
| Thyroid dyshormonogenesis 6 | 2 | Nov 22, 2024 |
| Tietz syndrome | 1 | May 23, 2018 |
| Transcobalamin II deficiency | 1 | Jan 4, 2022 |
| Treacher Collins syndrome | 1 | Dec 29, 2021 |
| Treacher Collins syndrome 1 | 1 | Nov 2, 2023 |
| Trichohepatoenteric syndrome 1 | 1 | Jan 4, 2022 |
| Trichorhinophalangeal dysplasia type I | 1 | Dec 30, 2023 |
| Trichothiodystrophy 2, photosensitive | 1 | Mar 9, 2024 |
| Trichothiodystrophy 4, nonphotosensitive | 1 | Jan 4, 2022 |
| Tuberous sclerosis 2 | 3 | Aug 16, 2024 |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | 1 | Dec 14, 2021 |
| Tyrosinase-positive oculocutaneous albinism | 4 | Aug 8, 2023 |
| UFSP2-related neurodevelopmental disorder | 1 | Apr 19, 2022 |
| USH1C-related disorder | 1 | Jan 3, 2025 |
| Ullrich congenital muscular dystrophy 1A | 1 | Oct 8, 2024 |
| Upshaw-Schulman syndrome | 2 | Aug 9, 2022 |
| Usher syndrome type 2C | 1 | Jun 4, 2018 |
| Vanishing white matter disease | 5 | Jan 4, 2022 |
| Vasculitis due to ADA2 deficiency | 2 | Jun 28, 2022 |
| Ververi-Brady syndrome | 1 | Aug 10, 2021 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 1 | Jan 4, 2022 |
| Vitamin D-dependent rickets type II with alopecia | 2 | Jan 2, 2025 |
| Vitamin D-dependent rickets, type 1A | 2 | Jan 14, 2022 |
| WFS1-spectrum disorder | 1 | Apr 7, 2025 |
| WT1-related disorder | 1 | Aug 2, 2024 |
| Waardenburg syndrome type 1 | 4 | Apr 7, 2021 |
| Waardenburg syndrome type 2A | 3 | May 23, 2018 |
| Waardenburg syndrome type 2E | 2 | May 24, 2018 |
| Waardenburg syndrome type 3 | 1 | Apr 7, 2021 |
| Waardenburg syndrome type 4A | 5 | Apr 1, 2025 |
| Waardenburg syndrome type 4B | 1 | Jun 1, 2018 |
| Waardenburg syndrome type 4C | 1 | May 24, 2018 |
| Warburg micro syndrome 1 | 1 | Oct 15, 2023 |
| Warburg micro syndrome 3 | 1 | Jan 4, 2022 |
| Wieacker-Wolff syndrome | 1 | Sep 19, 2024 |
| Wiedemann-Steiner syndrome | 3 | Jun 27, 2023 |
| Wilson disease | 3 | Jun 14, 2023 |
| Wiskott-Aldrich syndrome | 1 | Nov 15, 2021 |
| Wolfram syndrome 1 | 1 | Jan 4, 2022 |
| X-linked Alport syndrome | 2 | Feb 16, 2023 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Sep 18, 2023 |
| X-linked intellectual disability, Cantagrel type | 1 | Oct 26, 2022 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Aug 2, 2024 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | May 16, 2025 |
| X-linked severe combined immunodeficiency | 1 | Jan 4, 2022 |
| Xeroderma pigmentosum group A | 3 | Oct 25, 2024 |
| Xeroderma pigmentosum, group C | 2 | Apr 23, 2025 |
| early-onset neurohypophyseal diabetes insipidus | 1 | Feb 19, 2025 |
| pseudo-Pelger-Huet anomaly | 1 | Apr 15, 2025 |
