| 2-aminoadipic 2-oxoadipic aciduria | 1 | Jan 28, 2026 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2 | May 8, 2026 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | May 1, 2026 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 2 | May 21, 2026 |
| 3-methylglutaconic aciduria, type VIIA | 1 | Apr 23, 2026 |
| 46,XY sex reversal 1 | 1 | Feb 19, 2026 |
| 5-Oxoprolinase deficiency | 1 | Mar 16, 2026 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Jan 13, 2026 |
| 8q24.3 microdeletion syndrome | 2 | Mar 16, 2026 |
| ABCA4-related disorder | 1 | Nov 18, 2022 |
| ABCA4-related retinopathy | 1 | Jan 28, 2026 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 4 | May 21, 2026 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 4 | Apr 23, 2026 |
| ALDH18A1-related de Barsy syndrome | 1 | Apr 23, 2026 |
| ALG12-congenital disorder of glycosylation | 1 | May 21, 2026 |
| ALG6-congenital disorder of glycosylation 1C | 1 | May 1, 2026 |
| ALG8 congenital disorder of glycosylation | 1 | Apr 23, 2026 |
| Abortive cerebellar ataxia | 1 | Jan 13, 2026 |
| Achondroplasia | 1 | Mar 16, 2026 |
| Acne inversa, familial, 2 | 1 | May 8, 2026 |
| Acral peeling skin syndrome | 1 | May 1, 2026 |
| Acrocallosal syndrome | 1 | May 1, 2026 |
| Acrocephalosyndactyly type I | 2 | Apr 23, 2026 |
| Acrodermatitis continua suppurativa of Hallopeau | 2 | May 21, 2026 |
| Acute intermittent porphyria | 1 | Apr 23, 2026 |
| Adams-Oliver syndrome 2 | 1 | May 8, 2026 |
| Adams-Oliver syndrome 6 | 1 | May 1, 2026 |
| Adenylosuccinate lyase deficiency | 1 | May 21, 2026 |
| Adrenoleukodystrophy | 4 | Feb 19, 2026 |
| Adult hypophosphatasia | 3 | Jan 28, 2026 |
| Age related macular degeneration 13 | 1 | Jan 13, 2026 |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 1 | May 8, 2026 |
| Aicardi-Goutieres syndrome 2 | 1 | May 1, 2026 |
| Aicardi-Goutieres syndrome 5 | 2 | May 21, 2026 |
| Aicardi-Goutieres syndrome 6 | 2 | Mar 16, 2026 |
| Aicardi-Goutieres syndrome 9 | 1 | Apr 23, 2026 |
| Al Kaissi syndrome | 2 | May 8, 2026 |
| Alacrima, achalasia, and intellectual disability syndrome | 1 | May 21, 2026 |
| Alagille syndrome due to a JAG1 point mutation | 4 | May 21, 2026 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Mar 16, 2026 |
| Alexander disease | 1 | May 8, 2026 |
| Alkuraya-Kucinskas syndrome | 4 | Mar 16, 2026 |
| Allan-Herndon-Dudley syndrome | 2 | Feb 19, 2026 |
| Alpha-1-antitrypsin deficiency | 1 | May 1, 2026 |
| Alport syndrome 3b, autosomal recessive | 9 | May 21, 2026 |
| Alstrom syndrome | 7 | May 21, 2026 |
| Alzheimer disease 3 | 1 | May 1, 2026 |
| Alzheimer disease 9 | 4 | May 8, 2026 |
| Alzheimer disease type 1 | 1 | May 21, 2026 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 | Apr 23, 2026 |
| Amelogenesis imperfecta hypomaturation type 2A4 | 1 | Mar 16, 2026 |
| Amyloidosis, hereditary systemic 1 | 3 | May 8, 2026 |
| Amyotrophic lateral sclerosis 27, juvenile | 1 | Mar 16, 2026 |
| Amyotrophic lateral sclerosis type 1 | 1 | May 21, 2026 |
| Amyotrophic lateral sclerosis type 10 | 3 | Jan 28, 2026 |
| Amyotrophic lateral sclerosis type 22 | 1 | May 21, 2026 |
| Amyotrophic lateral sclerosis type 4 | 1 | Jan 13, 2026 |
| Andersen Tawil syndrome | 1 | May 8, 2026 |
| Androgen resistance syndrome | 2 | Feb 19, 2026 |
| Anemia, congenital dyserythropoietic, type IVb | 3 | May 8, 2026 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 14 | Feb 19, 2026 |
| Aneurysm-osteoarthritis syndrome | 1 | May 1, 2026 |
| Angelman syndrome | 3 | May 1, 2026 |
| Aniridia 1 | 1 | Apr 23, 2026 |
| Anterior segment dysgenesis 7 | 1 | May 8, 2026 |
| Aortic aneurysm, familial thoracic 4 | 1 | May 1, 2026 |
| Aortic aneurysm, familial thoracic 6 | 1 | Mar 16, 2026 |
| Arrhythmogenic right ventricular dysplasia 10 | 6 | May 8, 2026 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | May 8, 2026 |
| Arrhythmogenic right ventricular dysplasia 9 | 6 | Apr 23, 2026 |
| Arterial tortuosity syndrome | 1 | May 21, 2026 |
| Arthrogryposis multiplex congenita 5 | 2 | Mar 16, 2026 |
| Arthrogryposis multiplex congenita 6 | 4 | May 21, 2026 |
| Arthrogryposis, distal, with impaired proprioception and touch | 2 | May 8, 2026 |
| Aspartylglucosaminuria | 1 | Mar 16, 2026 |
| Asphyxiating thoracic dystrophy 3 | 5 | Apr 23, 2026 |
| Asphyxiating thoracic dystrophy 4 | 1 | May 21, 2026 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 3 | May 8, 2026 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | Mar 16, 2026 |
| Ataxia-telangiectasia syndrome | 8 | Apr 23, 2026 |
| Ataxia-telangiectasia-like disorder 1 | 2 | Apr 23, 2026 |
| Atrial fibrillation, familial, 18 | 1 | May 8, 2026 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 4 | Mar 16, 2026 |
| Autism, susceptibility to, 17 | 1 | Apr 23, 2026 |
| Autosomal Dominant TRPV4-Related Disorders | 1 | Apr 23, 2026 |
| Autosomal dominant ABCC8-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant ACAN-related disorders | 2 | May 1, 2026 |
| Autosomal dominant ACTC1-related disorders | 1 | May 1, 2026 |
| Autosomal dominant ALPL-related disorders | 1 | Jan 28, 2026 |
| Autosomal dominant APOA5-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant ARID1B-related disorders | 1 | Jan 28, 2026 |
| Autosomal dominant ATP1A3-related disorders | 1 | May 8, 2026 |
| Autosomal dominant Alport syndrome | 7 | May 21, 2026 |
| Autosomal dominant BARD1-related cancer types | 1 | May 21, 2026 |
| Autosomal dominant BARD1-related disorders | 1 | Jan 13, 2026 |
| Autosomal dominant BEST1-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant BMP4-related disorders | 1 | May 1, 2026 |
| Autosomal dominant BRCA2-related cancer types | 5 | May 1, 2026 |
| Autosomal dominant C19orf12-related disorders | 1 | May 8, 2026 |
| Autosomal dominant CACNA1A-related disorders | 6 | May 8, 2026 |
| Autosomal dominant CACNA1G-related disorders | 1 | May 8, 2026 |
| Autosomal dominant COL11A1-related disorders | 3 | Mar 16, 2026 |
| Autosomal dominant COL1A1-related disorders | 2 | May 8, 2026 |
| Autosomal dominant COL1A2-related disorders | 1 | Jan 13, 2026 |
| Autosomal dominant COL2A1-related disorders | 10 | Apr 23, 2026 |
| Autosomal dominant COL4A1-related disorders | 7 | May 1, 2026 |
| Autosomal dominant COL4A4-related disorders | 4 | May 21, 2026 |
| Autosomal dominant COL6A2-related disorders | 1 | May 21, 2026 |
| Autosomal dominant CREBBP-related disorders | 2 | May 1, 2026 |
| Autosomal dominant CTCF-related disorders | 1 | May 1, 2026 |
| Autosomal dominant DES-related disorders | 1 | May 21, 2026 |
| Autosomal dominant DICER1-related disorders | 3 | May 1, 2026 |
| Autosomal dominant DNMT3A-related disorders | 2 | May 8, 2026 |
| Autosomal dominant DSPP-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant ERF-related disorders | 1 | May 8, 2026 |
| Autosomal dominant FBN1-related disorders | 1 | May 1, 2026 |
| Autosomal dominant FGFR2-related disorders | 2 | Apr 23, 2026 |
| Autosomal dominant FGG-related disorders | 2 | Mar 16, 2026 |
| Autosomal dominant FLG-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant FZD5-related disorders | 1 | May 21, 2026 |
| Autosomal dominant GABBR2-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant GATA6-related disorders | 2 | May 8, 2026 |
| Autosomal dominant GJB2-related disorders | 1 | May 1, 2026 |
| Autosomal dominant GLI2-related disorders | 3 | May 21, 2026 |
| Autosomal dominant GNAS-related disorders | 1 | May 21, 2026 |
| Autosomal dominant GRIN2B-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant HNF1A-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant HNF1B-related disorders | 1 | May 8, 2026 |
| Autosomal dominant HOXD13-related disorders | 1 | May 21, 2026 |
| Autosomal dominant IFIH1-related disorders | 1 | May 21, 2026 |
| Autosomal dominant INF2-related disorders | 1 | May 1, 2026 |
| Autosomal dominant KAT6B-related disorders | 2 | Mar 16, 2026 |
| Autosomal dominant KCNMA1-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant KCNQ2-related disorders | 2 | May 21, 2026 |
| Autosomal dominant KIT-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant KRAS-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant LDLR-related disorders | 1 | May 8, 2026 |
| Autosomal dominant LEMD3-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant LRP5-related disorders | 2 | Apr 23, 2026 |
| Autosomal dominant MPZ-related disorders | 2 | Mar 16, 2026 |
| Autosomal dominant MYBPC3-related disorders | 2 | Apr 23, 2026 |
| Autosomal dominant MYH3-related disorders | 1 | May 8, 2026 |
| Autosomal dominant MYH6-related disorders | 1 | May 1, 2026 |
| Autosomal dominant NF1-related disorders | 4 | May 8, 2026 |
| Autosomal dominant NKX2-1-related disorders | 1 | May 1, 2026 |
| Autosomal dominant NOTCH1-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant NR5A1-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant PAFAH1B1-related disorders | 1 | May 8, 2026 |
| Autosomal dominant PAX2-related disorders | 2 | Apr 23, 2026 |
| Autosomal dominant PAX3-related disorders | 1 | May 21, 2026 |
| Autosomal dominant PAX6-related disorders | 2 | Apr 23, 2026 |
| Autosomal dominant PRRT2-related disorders | 1 | Jan 13, 2026 |
| Autosomal dominant PSEN1-related disorders | 2 | May 1, 2026 |
| Autosomal dominant PTEN-related disorders | 7 | Mar 16, 2026 |
| Autosomal dominant PTPN11-related disorders | 14 | Apr 23, 2026 |
| Autosomal dominant Parkinson disease 8 | 1 | Apr 23, 2026 |
| Autosomal dominant RTEL1-related disorders | 2 | May 21, 2026 |
| Autosomal dominant SCN1A-related disorders | 14 | May 21, 2026 |
| Autosomal dominant SCN2A-related disorders | 3 | May 21, 2026 |
| Autosomal dominant SCN3A-related disorders | 1 | May 21, 2026 |
| Autosomal dominant SCN4A-related disorders | 1 | May 8, 2026 |
| Autosomal dominant SCN5A-related disorders | 3 | May 21, 2026 |
| Autosomal dominant SCN8A-related disorders | 4 | Apr 23, 2026 |
| Autosomal dominant SIX1-related disorders | 1 | May 1, 2026 |
| Autosomal dominant SLC4A1-related disorders | 1 | May 8, 2026 |
| Autosomal dominant SMAD6-related disorders | 3 | May 1, 2026 |
| Autosomal dominant SOX10-related disorders | 1 | May 21, 2026 |
| Autosomal dominant SPTAN1-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant TCF7L2-related disorders | 1 | Apr 23, 2026 |
| Autosomal dominant TPM1-related disorders | 1 | May 1, 2026 |
| Autosomal dominant TRAF3-related disorders | 1 | May 1, 2026 |
| Autosomal dominant TRIO-related disorders | 2 | Mar 16, 2026 |
| Autosomal dominant TSHR-related disorders | 1 | May 1, 2026 |
| Autosomal dominant WDFY3-related disorders | 5 | Mar 16, 2026 |
| Autosomal dominant ZFHX3-related disorders | 1 | May 1, 2026 |
| Autosomal dominant ZFHX4-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant and autosomal recessive ABCA1-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant and autosomal recessive ALPL-related disorders | 1 | Jan 28, 2026 |
| Autosomal dominant and autosomal recessive CD46-related disorders | 1 | Mar 16, 2026 |
| Autosomal dominant and autosomal recessive DEPDC5-related disorders | 1 | May 21, 2026 |
| Autosomal dominant and autosomal recessive FLG-related disorders | 4 | Mar 16, 2026 |
| Autosomal dominant and autosomal recessive MFN2-related disorders | 2 | Jan 28, 2026 |
| Autosomal dominant and autosomal recessive NAGLU-related disorders | 1 | May 8, 2026 |
| Autosomal dominant and autosomal recessive PIEZO2-related disorders | 1 | May 8, 2026 |
| Autosomal dominant and autosomal recessive RYR1-related disorders | 1 | Jan 13, 2026 |
| Autosomal dominant and autosomal recessive SCN4A-related disorders | 1 | May 8, 2026 |
| Autosomal dominant and autosomal recessive STUB1-related disorders | 2 | May 1, 2026 |
| Autosomal dominant and autosomal recessive TTN-related disorders | 2 | May 21, 2026 |
| Autosomal dominant and autosomal recessive WFS1-related disorders | 2 | Mar 16, 2026 |
| Autosomal dominant cancer predisposition | 1 | Apr 23, 2026 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 4 | Mar 16, 2026 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Mar 16, 2026 |
| Autosomal dominant nonsyndromic hearing loss 11 | 3 | Apr 23, 2026 |
| Autosomal dominant nonsyndromic hearing loss 20 | 2 | May 8, 2026 |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 | Mar 16, 2026 |
| Autosomal dominant nonsyndromic hearing loss 2A | 4 | Apr 23, 2026 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | May 1, 2026 |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 | Jan 7, 2026 |
| Autosomal dominant nonsyndromic hearing loss 7 | 1 | Mar 16, 2026 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | May 1, 2026 |
| Autosomal dominant osteopetrosis 1 | 1 | Apr 23, 2026 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Mar 16, 2026 |
| Autosomal dominant sensory ataxia 1 | 1 | Mar 16, 2026 |
| Autosomal recessive ABCA4-related disorders | 6 | Mar 16, 2026 |
| Autosomal recessive ABCB4-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive ABCC6-related disorders | 4 | May 1, 2026 |
| Autosomal recessive ADA2-related disorders | 1 | May 21, 2026 |
| Autosomal recessive AGL-related disorders | 2 | May 1, 2026 |
| Autosomal recessive AIPL1-related disorders | 1 | May 8, 2026 |
| Autosomal recessive ALPL-related disorders | 5 | Jan 28, 2026 |
| Autosomal recessive AMACR-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive ANO5-related disorders | 3 | Apr 23, 2026 |
| Autosomal recessive Alport syndrome | 8 | May 21, 2026 |
| Autosomal recessive BBS1-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive BBS2-related disorders | 1 | May 1, 2026 |
| Autosomal recessive BCHE-related disorders | 2 | Jan 13, 2026 |
| Autosomal recessive BCS1L-related disorders | 2 | May 21, 2026 |
| Autosomal recessive CBS-related disorders | 1 | May 21, 2026 |
| Autosomal recessive CC2D2A-related disorders | 4 | Mar 16, 2026 |
| Autosomal recessive CEP104-related disorders | 2 | Jan 28, 2026 |
| Autosomal recessive CEP290-related disorders | 10 | Apr 23, 2026 |
| Autosomal recessive CFAP410-related disorders | 1 | May 21, 2026 |
| Autosomal recessive CHRNB1-related disorders | 1 | May 8, 2026 |
| Autosomal recessive CHRNE-related disorders | 1 | May 8, 2026 |
| Autosomal recessive CLCNKB-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive CLPB-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive COASY-related disorders | 1 | May 8, 2026 |
| Autosomal recessive COL4A3-related disorders | 1 | May 21, 2026 |
| Autosomal recessive COL4A4-related disorders | 1 | May 21, 2026 |
| Autosomal recessive COL6A2-related disorders | 3 | May 21, 2026 |
| Autosomal recessive COQ2-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive CPT2-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive CR2-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive CRB1-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive CRB2-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive CRBN-related disorders | 1 | May 21, 2026 |
| Autosomal recessive CUBN-related disorders | 3 | Mar 16, 2026 |
| Autosomal recessive DGUOK-related disorders | 2 | May 21, 2026 |
| Autosomal recessive DNA2-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive DOK7-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive DOPA responsive dystonia | 1 | Apr 23, 2026 |
| Autosomal recessive DYSF-related disorders | 5 | May 21, 2026 |
| Autosomal recessive EFEMP2-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive ENPP1-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive EPG5-related disorders | 1 | May 8, 2026 |
| Autosomal recessive ERCC2-related disorders | 2 | May 8, 2026 |
| Autosomal recessive ERCC3-related disorders | 1 | May 21, 2026 |
| Autosomal recessive ERCC4-related disorders | 1 | May 1, 2026 |
| Autosomal recessive ERCC6-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive FAT4-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive FGFR1-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive FKRP-related disorders | 1 | May 8, 2026 |
| Autosomal recessive FLG-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive GBA-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive GBA1-related disorders | 2 | Mar 16, 2026 |
| Autosomal recessive GBE1-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive GLB1-related disorders | 1 | May 21, 2026 |
| Autosomal recessive GLI1-related disorders | 2 | Apr 23, 2026 |
| Autosomal recessive GLS-related disorders | 1 | May 21, 2026 |
| Autosomal recessive GMPPB-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive GOSR2-related disorders | 1 | May 8, 2026 |
| Autosomal recessive GSS-related disorders | 1 | May 21, 2026 |
| Autosomal recessive GUCY2D-related disorders | 2 | May 8, 2026 |
| Autosomal recessive HEXA-related disorders | 1 | May 1, 2026 |
| Autosomal recessive HSPG2-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive IDUA-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive IFT140-related disorders | 1 | May 1, 2026 |
| Autosomal recessive IGHMBP2-related disorders | 2 | Apr 23, 2026 |
| Autosomal recessive KIAA0586-related disorders | 1 | May 1, 2026 |
| Autosomal recessive KIAA0753-related disorders | 3 | May 8, 2026 |
| Autosomal recessive LRP4-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive LRP5-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive MADD-related disorders | 4 | Apr 23, 2026 |
| Autosomal recessive MKKS-related disorders | 2 | May 21, 2026 |
| Autosomal recessive MKS1-related disorders | 3 | May 8, 2026 |
| Autosomal recessive MPV17-related disorders | 1 | May 8, 2026 |
| Autosomal recessive MTFMT-related disorders | 1 | May 1, 2026 |
| Autosomal recessive MUSK-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive MUTYH-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive MYH2-related disorders | 1 | May 8, 2026 |
| Autosomal recessive MYO7A-related disorders | 3 | Apr 23, 2026 |
| Autosomal recessive NBAS-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive NEB-related disorders | 1 | May 21, 2026 |
| Autosomal recessive NEU1-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive NMNAT1-related disorders | 1 | Feb 23, 2026 |
| Autosomal recessive NPC1-related disorders | 2 | May 8, 2026 |
| Autosomal recessive NPHP4-related disorders | 2 | Jan 28, 2026 |
| Autosomal recessive NUP133-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive OCA2-related disorders | 1 | May 1, 2026 |
| Autosomal recessive OTOF-related disorders | 1 | May 8, 2026 |
| Autosomal recessive PAH-related disorders | 8 | Apr 23, 2026 |
| Autosomal recessive PDZD7-related disorders | 2 | Apr 23, 2026 |
| Autosomal recessive PEX1-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive PEX12-related disorders | 1 | May 8, 2026 |
| Autosomal recessive PEX6-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive PHGDH-related disorders | 3 | May 1, 2026 |
| Autosomal recessive PLA2G6-related disorders | 1 | May 21, 2026 |
| Autosomal recessive PLEKHG5-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive PNKP-related disorders | 2 | May 8, 2026 |
| Autosomal recessive PNPLA6-related disorders | 2 | May 8, 2026 |
| Autosomal recessive PNPT1-related disorders | 1 | May 8, 2026 |
| Autosomal recessive POLG-related disorders | 10 | May 1, 2026 |
| Autosomal recessive POLR3A-related disorders | 5 | Mar 16, 2026 |
| Autosomal recessive POMGNT1-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive RAB3GAP1-related disorders | 1 | May 21, 2026 |
| Autosomal recessive RAG1-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive RAPSN-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive RDH5-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive RNU4ATAC-related disorders | 9 | May 21, 2026 |
| Autosomal recessive RPE65-related disorders | 2 | May 1, 2026 |
| Autosomal recessive RPGRIP1-related disorders | 2 | May 1, 2026 |
| Autosomal recessive RPGRIP1L-related disorders | 2 | May 1, 2026 |
| Autosomal recessive RTEL1-related disorders | 1 | May 21, 2026 |
| Autosomal recessive SERPINA1-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive SLC26A4-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive SPATA7-related disorders | 2 | May 1, 2026 |
| Autosomal recessive SPG11-related disorders | 5 | May 1, 2026 |
| Autosomal recessive SPTA1-related disorders | 1 | Jan 13, 2026 |
| Autosomal recessive SRD5A3-related disorders | 2 | Mar 16, 2026 |
| Autosomal recessive SYNJ1-related disorders | 1 | May 21, 2026 |
| Autosomal recessive TBC1D24-related disorders | 1 | May 1, 2026 |
| Autosomal recessive TCTN3-related disorders | 2 | Apr 23, 2026 |
| Autosomal recessive TK2-related disorders | 1 | May 1, 2026 |
| Autosomal recessive TOR1AIP1-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive TPP1-related disorders | 1 | Apr 23, 2026 |
| Autosomal recessive TRIM32-related disorders | 1 | Mar 16, 2026 |
| Autosomal recessive TSPEAR-related disorders | 2 | May 21, 2026 |
| Autosomal recessive TTN-related disorders | 4 | May 21, 2026 |
| Autosomal recessive TYR-related disorders | 3 | Apr 23, 2026 |
| Autosomal recessive UGT1A1-related disorders | 1 | May 21, 2026 |
| Autosomal recessive USH2A-related disorders | 6 | Mar 16, 2026 |
| Autosomal recessive VPS33B-related disorders | 1 | May 1, 2026 |
| Autosomal recessive WDR35-related disorders | 1 | May 8, 2026 |
| Autosomal recessive WWOX-related disorders | 1 | May 1, 2026 |
| Autosomal recessive XYLT1-related disorders | 1 | May 1, 2026 |
| Autosomal recessive ZMPSTE24-related disorders | 1 | Jan 28, 2026 |
| Autosomal recessive ZNF423-related disorders | 1 | May 1, 2026 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 5 | Mar 16, 2026 |
| Autosomal recessive bestrophinopathy | 1 | Apr 23, 2026 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 3 | Jan 28, 2026 |
| Autosomal recessive congenital ichthyosis 1 | 1 | Jan 13, 2026 |
| Autosomal recessive congenital ichthyosis 3 | 1 | May 8, 2026 |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 | Apr 23, 2026 |
| Autosomal recessive early-onset Parkinson disease 6 | 5 | Apr 23, 2026 |
| Autosomal recessive early-onset Parkinson disease 7 | 1 | Jan 28, 2026 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Mar 16, 2026 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 10 | May 1, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | May 1, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 3 | May 8, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | May 8, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Mar 16, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 | May 8, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Jan 13, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 | Apr 23, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | May 21, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 2 | Mar 16, 2026 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | Apr 23, 2026 |
| Autosomal recessive nonsyndromic hearing loss 124 | 2 | Mar 16, 2026 |
| Autosomal recessive nonsyndromic hearing loss 16 | 4 | May 1, 2026 |
| Autosomal recessive nonsyndromic hearing loss 18B | 7 | Apr 23, 2026 |
| Autosomal recessive nonsyndromic hearing loss 1A | 19 | May 1, 2026 |
| Autosomal recessive nonsyndromic hearing loss 2 | 2 | Apr 23, 2026 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Apr 23, 2026 |
| Autosomal recessive nonsyndromic hearing loss 28 | 4 | May 21, 2026 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | May 21, 2026 |
| Autosomal recessive nonsyndromic hearing loss 3 | 8 | May 8, 2026 |
| Autosomal recessive nonsyndromic hearing loss 30 | 2 | Mar 16, 2026 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Jan 13, 2026 |
| Autosomal recessive nonsyndromic hearing loss 7 | 5 | Mar 16, 2026 |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 | May 8, 2026 |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 | May 8, 2026 |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 | Mar 16, 2026 |
| Autosomal recessive nonsyndromic hearing loss 8 | 7 | May 21, 2026 |
| Autosomal recessive nonsyndromic hearing loss 84A | 2 | Apr 23, 2026 |
| Autosomal recessive nonsyndromic hearing loss 84B | 4 | Apr 23, 2026 |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 | May 1, 2026 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | May 8, 2026 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 | Jan 28, 2026 |
| Autosomal recessive spastic paraplegia type 78 | 2 | Jan 28, 2026 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Jan 13, 2026 |
| Autosomal recessive spinocerebellar ataxia 17 | 1 | Apr 23, 2026 |
| Autosomal recessive spinocerebellar ataxia 7 | 1 | Apr 23, 2026 |
| Autosomal semidominant ABCC8-related disorders | 1 | Apr 23, 2026 |
| Autosomal semidominant APOB-related disorders | 1 | May 8, 2026 |
| Autosomal semidominant CFAP43-related disorders | 1 | Apr 23, 2026 |
| Autosomal semidominant COL4A3-related disorders | 1 | May 21, 2026 |
| Autosomal semidominant RYR1-related disorders | 1 | May 8, 2026 |
| Autosomal. recessive NPHP4-related disorders | 1 | Jan 28, 2026 |
| Axenfeld-Rieger syndrome type 1 | 1 | Mar 16, 2026 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 3 | May 8, 2026 |
| Baller-Gerold syndrome | 1 | Mar 16, 2026 |
| Bardet-Biedl syndrome 1 | 1 | Jan 13, 2026 |
| Bardet-Biedl syndrome 10 | 1 | May 1, 2026 |
| Bardet-Biedl syndrome 2 | 2 | May 1, 2026 |
| Bardet-Biedl syndrome 4 | 1 | May 1, 2026 |
| Bartter disease type 1 | 1 | May 1, 2026 |
| Bartter disease type 2 | 2 | Apr 23, 2026 |
| Bartter disease type 3 | 3 | Apr 23, 2026 |
| Basal cell nevus syndrome 1 | 1 | Mar 16, 2026 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 2 | Mar 16, 2026 |
| Beare-Stevenson cutis gyrata syndrome | 1 | Jan 9, 2026 |
| Beck-Fahrner syndrome | 3 | May 21, 2026 |
| Becker muscular dystrophy | 4 | Mar 16, 2026 |
| Beckwith-Wiedemann syndrome | 1 | Apr 23, 2026 |
| Benign hereditary chorea | 1 | May 1, 2026 |
| Beta-D-mannosidosis | 1 | Mar 16, 2026 |
| Beta-thalassemia HBB/LCRB | 8 | Apr 23, 2026 |
| Bethlem myopathy 1A | 1 | May 21, 2026 |
| Bilateral frontoparietal polymicrogyria | 1 | May 1, 2026 |
| Biotin-responsive basal ganglia disease | 2 | May 21, 2026 |
| Biotinidase deficiency | 9 | May 21, 2026 |
| Birt-Hogg-Dube syndrome 1 | 1 | May 8, 2026 |
| Blau syndrome | 1 | May 1, 2026 |
| Bloom syndrome | 1 | May 1, 2026 |
| Bohring-Opitz syndrome | 1 | May 21, 2026 |
| Bone marrow failure syndrome 4 | 1 | Jan 28, 2026 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Feb 19, 2026 |
| Brachydactyly type A1 | 1 | May 21, 2026 |
| Brachydactyly type C | 2 | May 21, 2026 |
| Brain malformations with or without urinary tract defects | 3 | Jan 28, 2026 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | May 1, 2026 |
| Brain small vessel disease 2A, autosomal dominant | 3 | May 1, 2026 |
| Brain-lung-thyroid syndrome | 1 | May 1, 2026 |
| Branchiootorenal syndrome 1 | 2 | Mar 16, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 20 | May 8, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 38 | May 1, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 1 | May 8, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 2 | May 8, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | May 1, 2026 |
| Brittle cornea syndrome 1 | 1 | May 1, 2026 |
| Brittle cornea syndrome 2 | 1 | Mar 16, 2026 |
| Brody myopathy | 2 | May 1, 2026 |
| Brugada syndrome 1 | 2 | May 21, 2026 |
| CARASIL syndrome | 1 | Apr 23, 2026 |
| CBL-related disorder | 3 | Apr 23, 2026 |
| CEDNIK syndrome | 1 | May 21, 2026 |
| CHD7-related CHARGE syndrome | 24 | Mar 16, 2026 |
| CHEK2-related cancer predisposition | 3 | May 21, 2026 |
| COG6-congenital disorder of glycosylation | 2 | May 1, 2026 |
| CTCF-related neurodevelopmental disorder | 1 | May 1, 2026 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 1 | Jan 28, 2026 |
| Camptomelic dysplasia | 1 | May 8, 2026 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 5 | Apr 23, 2026 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | May 1, 2026 |
| Cardiac-urogenital syndrome | 3 | Apr 23, 2026 |
| Cardiofaciocutaneous syndrome 3 | 3 | May 1, 2026 |
| Cardiofaciocutaneous syndrome 4 | 1 | May 8, 2026 |
| Cardiomyopathy, familial hypertrophic 27 | 2 | May 1, 2026 |
| Cardiomyopathy, familial restrictive, 1 | 1 | May 8, 2026 |
| Carey-Fineman-Ziter syndrome 1 | 2 | Jan 13, 2026 |
| Carnitine palmitoyl transferase 1A deficiency | 1 | Apr 23, 2026 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 7 | May 1, 2026 |
| Cataract 1 multiple types | 1 | Mar 16, 2026 |
| Cataract 11 multiple types | 1 | Apr 23, 2026 |
| Cataract 21 multiple types | 1 | May 1, 2026 |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 1 | Mar 16, 2026 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | Mar 16, 2026 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | Apr 23, 2026 |
| Central core myopathy | 3 | May 8, 2026 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | May 1, 2026 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 5 | Apr 23, 2026 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2 | Jan 28, 2026 |
| Cerebellar-facial-dental syndrome | 1 | May 1, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 7 | May 8, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 2 | Apr 23, 2026 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 | May 8, 2026 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Feb 19, 2026 |
| Charcot-Marie-Tooth disease axonal type 2CC | 1 | Jan 13, 2026 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Jan 13, 2026 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Mar 16, 2026 |
| Charcot-Marie-Tooth disease axonal type 2S | 1 | Apr 23, 2026 |
| Charcot-Marie-Tooth disease axonal type 2T | 1 | Jan 13, 2026 |
| Charcot-Marie-Tooth disease type 1B | 3 | Mar 16, 2026 |
| Charcot-Marie-Tooth disease type 2A2 | 3 | Jan 28, 2026 |
| Charcot-Marie-Tooth disease type 2B1 | 1 | Jan 28, 2026 |
| Charcot-Marie-Tooth disease type 2E | 1 | Mar 16, 2026 |
| Charcot-Marie-Tooth disease type 2R | 1 | Mar 16, 2026 |
| Charcot-Marie-Tooth disease type 4A | 4 | Mar 16, 2026 |
| Charcot-Marie-Tooth disease type 4B2 | 1 | Apr 23, 2026 |
| Charcot-Marie-Tooth disease type 4C | 1 | Jan 13, 2026 |
| Charcot-Marie-Tooth disease type 4F | 2 | May 8, 2026 |
| Charcot-Marie-Tooth disease type 4J | 1 | Jan 13, 2026 |
| Charlevoix-Saguenay spastic ataxia | 6 | May 1, 2026 |
| Childhood onset GLUT1 deficiency syndrome 2 | 3 | Jan 28, 2026 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 2 | May 1, 2026 |
| Cholestanol storage disease | 5 | May 21, 2026 |
| Cholesteryl ester storage disease | 1 | Jan 13, 2026 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Feb 19, 2026 |
| Chromosome 2q32-q33 deletion syndrome | 2 | May 21, 2026 |
| Chudley-McCullough syndrome | 1 | Mar 16, 2026 |
| Chédiak-Higashi syndrome | 2 | May 21, 2026 |
| Ciliary dyskinesia, primary, 37 | 1 | Jan 28, 2026 |
| Ciliary dyskinesia, primary, 40 | 1 | May 8, 2026 |
| Ciliary dyskinesia, primary, 43 | 1 | May 8, 2026 |
| Ciliary dyskinesia, primary, 49, without situs inversus | 1 | Apr 23, 2026 |
| Citrullinemia type I | 3 | Mar 16, 2026 |
| Clark-Baraitser syndrome | 1 | May 21, 2026 |
| Classic dopamine transporter deficiency syndrome | 1 | Mar 16, 2026 |
| Cleft palate, proliferative retinopathy, and developmental delay | 1 | Apr 23, 2026 |
| Cobalamin C disease | 5 | May 1, 2026 |
| Cockayne syndrome type 1 | 1 | Jan 28, 2026 |
| Cockayne syndrome type 2 | 1 | Mar 16, 2026 |
| Coffin-Siris syndrome 1 | 1 | Jan 13, 2026 |
| Coffin-Siris syndrome 12 | 1 | May 8, 2026 |
| Coffin-Siris syndrome 7 | 1 | Apr 23, 2026 |
| Coffin-Siris syndrome 8 | 2 | Apr 23, 2026 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Apr 23, 2026 |
| Cohen syndrome | 4 | Mar 16, 2026 |
| Cole-Carpenter syndrome 2 | 2 | Mar 16, 2026 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 2 | May 21, 2026 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | May 21, 2026 |
| Combined immunodeficiency due to DOCK8 deficiency | 1 | Jan 13, 2026 |
| Combined immunodeficiency due to STK4 deficiency | 1 | May 21, 2026 |
| Combined malonic and methylmalonic acidemia | 2 | May 1, 2026 |
| Combined oxidative phosphorylation defect type 13 | 1 | Jan 13, 2026 |
| Combined oxidative phosphorylation deficiency 32 | 1 | May 1, 2026 |
| Combined oxidative phosphorylation deficiency 35 | 1 | Jan 28, 2026 |
| Combined oxidative phosphorylation deficiency 37 | 1 | May 8, 2026 |
| Combined oxidative phosphorylation deficiency 41 | 1 | Mar 16, 2026 |
| Combined oxidative phosphorylation deficiency 44 | 1 | May 21, 2026 |
| Combined oxidative phosphorylation deficiency 55 | 1 | May 8, 2026 |
| Complement component 6 deficiency | 1 | Jan 9, 2026 |
| Complement component 9 deficiency | 1 | Jan 13, 2026 |
| Complex cortical dysplasia with other brain malformations 1 | 2 | May 8, 2026 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Jan 13, 2026 |
| Compton-North congenital myopathy | 1 | Apr 23, 2026 |
| Cone dystrophy with supernormal rod response | 2 | Mar 16, 2026 |
| Congenital adrenal hypoplasia, X-linked | 1 | Jan 13, 2026 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 2 | May 1, 2026 |
| Congenital afibrinogenemia | 1 | Mar 16, 2026 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 2 | Mar 16, 2026 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | May 8, 2026 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | May 8, 2026 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 3 | May 1, 2026 |
| Congenital disorder of deglycosylation 1 | 1 | May 21, 2026 |
| Congenital disorder of glycosylation type 1E | 1 | May 21, 2026 |
| Congenital disorder of glycosylation, type iit | 1 | Mar 16, 2026 |
| Congenital heart defects and skeletal malformations syndrome | 1 | Mar 16, 2026 |
| Congenital heart defects, multiple types, 4 | 1 | May 1, 2026 |
| Congenital hyperammonemia, type I | 1 | May 21, 2026 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 3 | May 8, 2026 |
| Congenital multicore myopathy with external ophthalmoplegia | 10 | May 8, 2026 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2 | Apr 23, 2026 |
| Congenital myasthenic syndrome 10 | 1 | Mar 16, 2026 |
| Congenital myasthenic syndrome 11 | 2 | Apr 23, 2026 |
| Congenital myasthenic syndrome 13 | 2 | Apr 23, 2026 |
| Congenital myasthenic syndrome 2C | 2 | May 8, 2026 |
| Congenital myasthenic syndrome 3B | 1 | May 21, 2026 |
| Congenital myasthenic syndrome 3C | 1 | May 21, 2026 |
| Congenital myasthenic syndrome 8 | 1 | Jan 28, 2026 |
| Congenital myopathy 18 | 1 | May 21, 2026 |
| Congenital myopathy with reduced type 2 muscle fibers | 1 | May 21, 2026 |
| Congenital myotonia, autosomal dominant form | 5 | Mar 16, 2026 |
| Congenital myotonia, autosomal recessive form | 6 | Mar 16, 2026 |
| Congenital nongoitrous hypothyroidism 6 | 1 | May 8, 2026 |
| Congenital primary aphakia | 1 | Jan 28, 2026 |
| Congenital stationary night blindness 1C | 1 | May 1, 2026 |
| Congenital stationary night blindness 1D | 2 | May 1, 2026 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 1 | Jan 28, 2026 |
| Cornelia de Lange syndrome 1 | 2 | Mar 16, 2026 |
| Cornelia de Lange syndrome 4 | 2 | Mar 16, 2026 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Mar 16, 2026 |
| Costello syndrome | 6 | Apr 23, 2026 |
| Cowden syndrome 1 | 4 | Mar 16, 2026 |
| Cowden syndrome 4 | 1 | Jan 13, 2026 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 2 | Mar 16, 2026 |
| Craniofrontonasal syndrome | 2 | Feb 19, 2026 |
| Craniosynostosis 7 | 2 | May 1, 2026 |
| Creatine transporter deficiency | 3 | Feb 19, 2026 |
| Crigler-Najjar syndrome type 1 | 1 | May 21, 2026 |
| Cutaneous mastocytosis | 1 | Mar 16, 2026 |
| Cyclical neutropenia | 1 | May 8, 2026 |
| Cystathioninuria | 1 | May 1, 2026 |
| Cystic fibrosis | 5 | Jan 28, 2026 |
| Cystinuria | 4 | May 21, 2026 |
| DOORS syndrome | 2 | May 1, 2026 |
| DYRK1A-related intellectual disability syndrome | 3 | May 21, 2026 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 4 | Mar 16, 2026 |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 2 | Mar 16, 2026 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Apr 23, 2026 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 3 | Mar 16, 2026 |
| Deficiency of adenosine deaminase 2 | 1 | May 21, 2026 |
| Deficiency of alpha-mannosidase | 4 | May 8, 2026 |
| Deficiency of butyryl-CoA dehydrogenase | 4 | Apr 23, 2026 |
| Deficiency of butyrylcholinesterase | 1 | Jan 28, 2026 |
| Deficiency of iodide peroxidase | 1 | May 8, 2026 |
| Dejerine-Sottas disease | 1 | May 8, 2026 |
| Dermatitis, atopic, 2 | 2 | Apr 23, 2026 |
| Dermatofibrosis lenticularis disseminata | 2 | May 1, 2026 |
| Developmental and epileptic encephalopathy 113 | 1 | Jan 9, 2026 |
| Developmental and epileptic encephalopathy 116 | 8 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy 6B | 1 | May 21, 2026 |
| Developmental and epileptic encephalopathy 91 | 2 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy 94 | 5 | May 1, 2026 |
| Developmental and epileptic encephalopathy, 12 | 1 | May 21, 2026 |
| Developmental and epileptic encephalopathy, 13 | 1 | Apr 23, 2026 |
| Developmental and epileptic encephalopathy, 17 | 1 | May 1, 2026 |
| Developmental and epileptic encephalopathy, 18 | 1 | Jan 28, 2026 |
| Developmental and epileptic encephalopathy, 2 | 4 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy, 26 | 1 | May 21, 2026 |
| Developmental and epileptic encephalopathy, 28 | 1 | May 1, 2026 |
| Developmental and epileptic encephalopathy, 29 | 1 | May 1, 2026 |
| Developmental and epileptic encephalopathy, 31A | 1 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy, 32 | 2 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy, 37 | 1 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy, 38 | 1 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy, 42 | 3 | May 8, 2026 |
| Developmental and epileptic encephalopathy, 44 | 1 | Jan 7, 2026 |
| Developmental and epileptic encephalopathy, 48 | 3 | May 1, 2026 |
| Developmental and epileptic encephalopathy, 5 | 1 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy, 50 | 2 | May 8, 2026 |
| Developmental and epileptic encephalopathy, 52 | 1 | May 8, 2026 |
| Developmental and epileptic encephalopathy, 64 | 1 | Mar 16, 2026 |
| Developmental and epileptic encephalopathy, 7 | 6 | May 21, 2026 |
| Developmental and epileptic encephalopathy, 75 | 1 | Jan 28, 2026 |
| Developmental and epileptic encephalopathy, 79 | 1 | May 1, 2026 |
| Developmental and epileptic encephalopathy, 8 | 1 | Feb 19, 2026 |
| Developmental and epileptic encephalopathy, 80 | 2 | May 1, 2026 |
| Developmental and epileptic encephalopathy, 9 | 1 | Feb 19, 2026 |
| Developmental delay and seizures with or without movement abnormalities | 2 | Jan 28, 2026 |
| Developmental delay with or without epilepsy | 1 | Mar 16, 2026 |
| Developmental delay with variable intellectual disability and dysmorphic facies | 1 | Jan 13, 2026 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 | May 21, 2026 |
| Developmental delay with variable neurologic and brain abnormalities | 1 | Mar 16, 2026 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | May 8, 2026 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | May 1, 2026 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | May 21, 2026 |
| Developmental delay, impaired speech, and behavioral abnormalities | 4 | May 8, 2026 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 2 | Mar 16, 2026 |
| Diabetes insipidus, nephrogenic, X-linked | 1 | Feb 19, 2026 |
| Dihydropyrimidinase deficiency | 1 | Mar 16, 2026 |
| Dihydropyrimidine dehydrogenase deficiency | 3 | May 1, 2026 |
| Dilated cardiomyopathy 1A | 3 | May 21, 2026 |
| Dilated cardiomyopathy 1CC | 1 | Jan 28, 2026 |
| Dilated cardiomyopathy 1G | 58 | May 21, 2026 |
| Dilated cardiomyopathy 1HH | 1 | Apr 23, 2026 |
| Distal arthrogryposis type 2B1 | 2 | Apr 23, 2026 |
| Distal arthrogryposis type 5D | 1 | Jan 13, 2026 |
| Distichiasis-lymphedema syndrome | 1 | May 1, 2026 |
| Duane retraction syndrome 3 with or without deafness | 1 | May 21, 2026 |
| Dystonia 12 | 2 | May 8, 2026 |
| Dystonia 22, adult-onset | 1 | May 8, 2026 |
| Dystonia 28, childhood-onset | 1 | May 8, 2026 |
| Dystonia 30 | 2 | May 21, 2026 |
| Dystonia 5 | 1 | May 1, 2026 |
| Early-onset generalized limb-onset dystonia | 1 | Jan 13, 2026 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 | May 8, 2026 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 | May 8, 2026 |
| Ectopia lentis 1, isolated, autosomal dominant | 1 | May 1, 2026 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 1 | Jan 13, 2026 |
| Ehlers-Danlos syndrome, classic type, 1 | 1 | Mar 16, 2026 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | May 21, 2026 |
| Ehlers-Danlos syndrome, classic-like, 2 | 1 | Jan 13, 2026 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 3 | Apr 23, 2026 |
| Ehlers-Danlos syndrome, type 4 | 9 | May 21, 2026 |
| Eichsfeld type congenital muscular dystrophy | 2 | Apr 23, 2026 |
| El Hayek-Chahrour neurodevelopmental disorder | 1 | Apr 23, 2026 |
| Elliptocytosis 2 | 1 | Jan 13, 2026 |
| Ellis-van Creveld syndrome | 3 | Mar 16, 2026 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Mar 16, 2026 |
| Encephalopathy due to GLUT1 deficiency | 1 | Jan 28, 2026 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | May 1, 2026 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 1 | May 8, 2026 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2 | Mar 16, 2026 |
| Epilepsy with myoclonic atonic seizures | 2 | May 21, 2026 |
| Epilepsy, familial adult myoclonic, 5 | 1 | Mar 16, 2026 |
| Epilepsy, familial focal, with variable foci 1 | 3 | May 21, 2026 |
| Epilepsy, familial temporal lobe, 1 | 1 | Apr 23, 2026 |
| Epilepsy, progressive myoclonic, 11 | 1 | May 8, 2026 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Jan 28, 2026 |
| Episodic ataxia type 1 | 1 | Apr 23, 2026 |
| Ethylmalonic encephalopathy | 1 | May 8, 2026 |
| Exostoses, multiple, type 1 | 1 | Mar 16, 2026 |
| Exostoses, multiple, type 2 | 2 | Apr 23, 2026 |
| Exudative vitreoretinopathy 4 | 2 | Apr 23, 2026 |
| FLG-related disorder | 1 | Jan 28, 2026 |
| FOXG1 disorder | 3 | May 1, 2026 |
| Fabry disease | 4 | Feb 19, 2026 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Apr 23, 2026 |
| Facioscapulohumeral muscular dystrophy 2 | 1 | May 8, 2026 |
| Familial Mediterranean fever | 1 | Jan 13, 2026 |
| Familial Mediterranean fever, autosomal dominant | 2 | May 1, 2026 |
| Familial adenomatous polyposis 1 | 1 | Jan 13, 2026 |
| Familial adenomatous polyposis 2 | 2 | Jan 28, 2026 |
| Familial adenomatous polyposis 3 | 1 | May 1, 2026 |
| Familial cancer of breast | 2 | May 8, 2026 |
| Familial dysfibrinogenemia | 1 | Mar 16, 2026 |
| Familial hypobetalipoproteinemia 1 | 2 | May 8, 2026 |
| Familial hypokalemia-hypomagnesemia | 4 | May 1, 2026 |
| Familial infantile myasthenia | 1 | Mar 16, 2026 |
| Familial medullary thyroid carcinoma | 2 | Mar 16, 2026 |
| Familial porphyria cutanea tarda | 1 | May 1, 2026 |
| Familial prostate cancer | 2 | May 1, 2026 |
| Familial renal glucosuria | 2 | May 1, 2026 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | Jan 28, 2026 |
| Familial visceral amyloidosis, Ostertag type | 1 | Mar 16, 2026 |
| Fanconi anemia complementation group A | 1 | May 8, 2026 |
| Fanconi anemia complementation group C | 2 | Mar 16, 2026 |
| Fanconi anemia complementation group D1 | 1 | May 1, 2026 |
| Fanconi anemia complementation group D2 | 1 | May 21, 2026 |
| Fanconi anemia complementation group I | 2 | May 1, 2026 |
| Fanconi anemia complementation group J | 1 | May 8, 2026 |
| Fanconi anemia complementation group P | 1 | May 1, 2026 |
| Fanconi anemia complementation group R | 1 | May 1, 2026 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | May 21, 2026 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 | Apr 23, 2026 |
| Febrile seizures, familial, 11 | 1 | Mar 16, 2026 |
| Fibrochondrogenesis 1 | 1 | Mar 16, 2026 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | May 8, 2026 |
| Fibrosis, neurodegeneration, and cerebral angiomatosis | 1 | Apr 23, 2026 |
| Fibrous dysplasia of jaw | 1 | Mar 16, 2026 |
| Filippi syndrome | 1 | May 21, 2026 |
| Finnish congenital nephrotic syndrome | 3 | May 8, 2026 |
| Fliedner-Zweier syndrome | 3 | May 21, 2026 |
| Floating-Harbor syndrome | 1 | May 1, 2026 |
| Focal dermal hypoplasia | 3 | Feb 19, 2026 |
| Focal segmental glomerulosclerosis 2 | 2 | Apr 23, 2026 |
| Focal segmental glomerulosclerosis 4, susceptibility to | 2 | Jan 13, 2026 |
| Focal segmental glomerulosclerosis 9 | 1 | Mar 16, 2026 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 2 | Apr 23, 2026 |
| Fontaine progeroid syndrome | 1 | Mar 16, 2026 |
| Fraser syndrome 1 | 5 | Mar 16, 2026 |
| Freeman-Sheldon syndrome | 1 | May 8, 2026 |
| Friedreich ataxia 1 | 1 | Mar 16, 2026 |
| GNE myopathy | 2 | Mar 16, 2026 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 | May 8, 2026 |
| Galactosylceramide beta-galactosidase deficiency | 2 | May 1, 2026 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 2 | May 21, 2026 |
| Gaucher disease type I | 2 | Mar 16, 2026 |
| Gaucher disease type II | 1 | Mar 16, 2026 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | Apr 23, 2026 |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 1 | May 8, 2026 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | May 8, 2026 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | May 21, 2026 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | May 1, 2026 |
| Genitourinary and/or brain malformation syndrome | 1 | Jan 13, 2026 |
| Gerstmann-Straussler-Scheinker syndrome | 2 | May 21, 2026 |
| Gilbert syndrome | 1 | May 21, 2026 |
| Gillespie syndrome | 1 | Jan 13, 2026 |
| Glanzmann thrombasthenia 1 | 1 | May 8, 2026 |
| Glaucoma 1, open angle, A | 1 | May 21, 2026 |
| Glaucoma 1, open angle, H | 1 | May 8, 2026 |
| Glaucoma 3, primary congenital, E | 1 | Mar 16, 2026 |
| Glaucoma 3A | 3 | May 8, 2026 |
| Global developmental delay with speech and behavioral abnormalities | 1 | May 21, 2026 |
| Glomuvenous malformation | 4 | May 1, 2026 |
| Glucocorticoid deficiency with achalasia | 3 | Apr 23, 2026 |
| Glucose-6-phosphate transport defect | 1 | Apr 23, 2026 |
| Glutaric aciduria, type 1 | 2 | May 8, 2026 |
| Glycine encephalopathy 1 | 3 | Mar 16, 2026 |
| Glycogen storage disease IXc | 1 | Jan 13, 2026 |
| Glycogen storage disease IXd | 1 | Feb 19, 2026 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 4 | May 8, 2026 |
| Glycogen storage disease type III | 2 | May 1, 2026 |
| Glycogen storage disease, type II | 10 | May 8, 2026 |
| Glycogen storage disease, type IV | 1 | Jan 28, 2026 |
| Glycogen storage disease, type V | 6 | Apr 23, 2026 |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 1 | May 8, 2026 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 1 | Apr 23, 2026 |
| Growth delay due to insulin-like growth factor I resistance | 1 | May 1, 2026 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 2 | Mar 16, 2026 |
| Hajdu-Cheney syndrome | 2 | Mar 16, 2026 |
| Hao-Fountain syndrome due to USP7 mutation | 2 | May 1, 2026 |
| Hb SS disease | 1 | Jan 13, 2026 |
| Hearing loss, X-linked 4 | 1 | Mar 16, 2026 |
| Hearing loss, autosomal dominant 82 | 3 | May 21, 2026 |
| Hearing loss, autosomal recessive 111 | 4 | Apr 23, 2026 |
| Hearing loss, autosomal recessive 115 | 1 | May 8, 2026 |
| Hearing loss, autosomal recessive 57 | 1 | Apr 23, 2026 |
| Hematuria, benign familial, 1 | 1 | May 21, 2026 |
| Hemochromatosis type 4 | 1 | May 21, 2026 |
| Hengel-Maroofian-Schols syndrome | 1 | May 8, 2026 |
| Hereditary angioedema type 1 | 2 | Apr 23, 2026 |
| Hereditary antithrombin deficiency | 3 | May 21, 2026 |
| Hereditary breast ovarian cancer syndrome | 1 | Nov 18, 2022 |
| Hereditary diffuse gastric adenocarcinoma | 1 | May 1, 2026 |
| Hereditary factor IX deficiency disease | 2 | Feb 19, 2026 |
| Hereditary factor VIII deficiency disease | 10 | Feb 19, 2026 |
| Hereditary factor XI deficiency disease | 7 | Mar 16, 2026 |
| Hereditary fructosuria | 2 | Jan 28, 2026 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Mar 16, 2026 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Mar 16, 2026 |
| Hereditary pancreatitis | 2 | Jan 28, 2026 |
| Hereditary spastic paraplegia 11 | 6 | May 1, 2026 |
| Hereditary spastic paraplegia 15 | 1 | May 1, 2026 |
| Hereditary spastic paraplegia 26 | 1 | Jan 13, 2026 |
| Hereditary spastic paraplegia 35 | 2 | May 1, 2026 |
| Hereditary spastic paraplegia 3A | 3 | May 1, 2026 |
| Hereditary spastic paraplegia 4 | 6 | May 8, 2026 |
| Hereditary spastic paraplegia 47 | 2 | May 1, 2026 |
| Hereditary spastic paraplegia 49 | 1 | May 1, 2026 |
| Hereditary spastic paraplegia 54 | 1 | Mar 16, 2026 |
| Hereditary spastic paraplegia 55 | 1 | Apr 23, 2026 |
| Hereditary spastic paraplegia 5A | 1 | Jan 13, 2026 |
| Hereditary spastic paraplegia 7 | 9 | May 8, 2026 |
| Hereditary spherocytosis type 1 | 1 | Mar 16, 2026 |
| Hereditary spherocytosis type 2 | 1 | May 1, 2026 |
| Hermansky-Pudlak syndrome 1 | 1 | Apr 23, 2026 |
| Heterotaxy, visceral, 12, autosomal | 2 | May 1, 2026 |
| Heterotaxy, visceral, 14, autosomal | 1 | Mar 16, 2026 |
| Heterotaxy, visceral, 5, autosomal | 1 | Mar 16, 2026 |
| Heterotaxy, visceral, 6, autosomal | 1 | May 8, 2026 |
| Heterotopia, periventricular, X-linked dominant | 2 | Feb 19, 2026 |
| Holocarboxylase synthetase deficiency | 2 | May 21, 2026 |
| Holoprosencephaly 2 | 1 | May 21, 2026 |
| Holoprosencephaly 5 | 1 | Jan 7, 2026 |
| Holt-Oram syndrome | 1 | Jan 13, 2026 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 4 | Apr 23, 2026 |
| Huntington disease-like 1 | 1 | May 21, 2026 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 | May 1, 2026 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 | Jan 28, 2026 |
| Hyperalphalipoproteinemia 1 | 1 | May 1, 2026 |
| Hypercalcemia, infantile, 1 | 1 | May 21, 2026 |
| Hypercalcemia, infantile, 2 | 1 | Jan 13, 2026 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Jan 28, 2026 |
| Hypercholesterolemia, autosomal dominant, type B | 2 | May 8, 2026 |
| Hypercholesterolemia, familial, 1 | 27 | May 8, 2026 |
| Hyperekplexia 3 | 1 | Apr 23, 2026 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Apr 23, 2026 |
| Hyperkalemic periodic paralysis | 1 | May 8, 2026 |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 1 | May 21, 2026 |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 1 | Mar 16, 2026 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 2 | Mar 16, 2026 |
| Hypertriglyceridemia 2 | 2 | May 8, 2026 |
| Hypertrophic cardiomyopathy 1 | 12 | May 1, 2026 |
| Hypertrophic cardiomyopathy 10 | 1 | Apr 23, 2026 |
| Hypertrophic cardiomyopathy 11 | 1 | May 1, 2026 |
| Hypertrophic cardiomyopathy 2 | 2 | Mar 16, 2026 |
| Hypertrophic cardiomyopathy 4 | 14 | Apr 23, 2026 |
| Hypertrophic cardiomyopathy 7 | 2 | May 8, 2026 |
| Hypervalinemia and hyperleucine-isoleucinemia | 1 | Jan 13, 2026 |
| Hypochondroplasia | 2 | Mar 16, 2026 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | May 21, 2026 |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 1 | Jan 13, 2026 |
| Hypohidrotic X-linked ectodermal dysplasia | 2 | Feb 19, 2026 |
| Hypokalemic periodic paralysis, type 1 | 2 | May 21, 2026 |
| Hypokalemic periodic paralysis, type 2 | 1 | May 8, 2026 |
| Hypoparathyroidism, deafness, renal disease syndrome | 4 | Mar 16, 2026 |
| Hypothyroidism due to TSH receptor mutations | 1 | May 1, 2026 |
| Hypotonia, ataxia, and delayed development syndrome | 2 | Apr 23, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2 | May 1, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Mar 16, 2026 |
| Ichthyosis vulgaris | 9 | Mar 16, 2026 |
| Imagawa-Matsumoto syndrome | 2 | May 8, 2026 |
| Imerslund-Grasbeck syndrome type 1 | 1 | Mar 16, 2026 |
| Immunodeficiency 31B | 1 | May 21, 2026 |
| Immunodeficiency 74, COVID-19-related, X-linked | 1 | Mar 16, 2026 |
| Immunodeficiency 95 | 2 | May 21, 2026 |
| Immunodeficiency due to ficolin3 deficiency | 1 | Jan 28, 2026 |
| Immunodeficiency, common variable, 10 | 1 | Apr 23, 2026 |
| Immunodeficiency, common variable, 12 | 1 | Mar 16, 2026 |
| Immunodeficiency, common variable, 2 | 3 | May 8, 2026 |
| Immunodeficiency, common variable, 7 | 1 | May 21, 2026 |
| Infantile GM1 gangliosidosis | 1 | May 21, 2026 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 2 | Apr 23, 2026 |
| Inflammatory bowel disease 1 | 1 | Jan 13, 2026 |
| Inflammatory bowel disease 28 | 1 | Apr 23, 2026 |
| Inherited prekallikrein deficiency | 1 | Jan 28, 2026 |
| Intellectual developmental disorder 61 | 4 | May 8, 2026 |
| Intellectual developmental disorder 62 | 1 | May 8, 2026 |
| Intellectual developmental disorder with autism and macrocephaly | 3 | May 1, 2026 |
| Intellectual developmental disorder with autism and speech delay | 1 | May 21, 2026 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 2 | May 8, 2026 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | May 8, 2026 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | May 8, 2026 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 3 | May 21, 2026 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 4 | May 8, 2026 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | May 1, 2026 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 2 | May 21, 2026 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Apr 23, 2026 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 3 | May 8, 2026 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 3 | May 1, 2026 |
| Intellectual developmental disorder with seizures and language delay | 1 | Apr 23, 2026 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 2 | May 8, 2026 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 2 | May 1, 2026 |
| Intellectual developmental disorder, X-linked 111 | 1 | Feb 19, 2026 |
| Intellectual developmental disorder, X-linked, syndromic 37 | 1 | Mar 16, 2026 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | May 8, 2026 |
| Intellectual developmental disorder, autosomal dominant 66 | 1 | Apr 23, 2026 |
| Intellectual developmental disorder, autosomal dominant 72 | 3 | May 1, 2026 |
| Intellectual developmental disorder, autosomal dominant 73 | 2 | May 21, 2026 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Apr 23, 2026 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | May 21, 2026 |
| Intellectual developmental disorder, autosomal recessive 78 | 1 | Apr 23, 2026 |
| Intellectual developmental disorder, autosomal recessive 82 | 1 | Mar 16, 2026 |
| Intellectual disability and myopathy syndrome | 1 | Apr 23, 2026 |
| Intellectual disability, X-linked 102 | 7 | Feb 19, 2026 |
| Intellectual disability, X-linked 99 | 1 | Feb 19, 2026 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Feb 19, 2026 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Feb 19, 2026 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Mar 16, 2026 |
| Intellectual disability, autosomal dominant 1 | 1 | May 21, 2026 |
| Intellectual disability, autosomal dominant 14 | 2 | Jan 28, 2026 |
| Intellectual disability, autosomal dominant 16 | 1 | May 8, 2026 |
| Intellectual disability, autosomal dominant 22 | 1 | Mar 16, 2026 |
| Intellectual disability, autosomal dominant 24 | 2 | Apr 23, 2026 |
| Intellectual disability, autosomal dominant 29 | 1 | May 8, 2026 |
| Intellectual disability, autosomal dominant 30 | 2 | Mar 16, 2026 |
| Intellectual disability, autosomal dominant 39 | 3 | May 8, 2026 |
| Intellectual disability, autosomal dominant 42 | 4 | Jan 28, 2026 |
| Intellectual disability, autosomal dominant 45 | 2 | May 8, 2026 |
| Intellectual disability, autosomal dominant 5 | 2 | Jan 13, 2026 |
| Intellectual disability, autosomal dominant 50 | 4 | Mar 16, 2026 |
| Intellectual disability, autosomal dominant 51 | 2 | Apr 23, 2026 |
| Intellectual disability, autosomal dominant 52 | 4 | May 21, 2026 |
| Intellectual disability, autosomal dominant 55, with seizures | 1 | Jan 13, 2026 |
| Intellectual disability, autosomal dominant 56 | 5 | May 8, 2026 |
| Intellectual disability, autosomal dominant 57 | 4 | May 8, 2026 |
| Intellectual disability, autosomal dominant 6 | 3 | Apr 23, 2026 |
| Intellectual disability, autosomal dominant 9 | 1 | May 21, 2026 |
| Intellectual disability, autosomal recessive 27 | 1 | May 1, 2026 |
| Intellectual disability, autosomal recessive 34 | 1 | Apr 23, 2026 |
| Intellectual disability, autosomal recessive 47 | 2 | Mar 16, 2026 |
| Intellectual disability, autosomal recessive 53 | 1 | Jan 13, 2026 |
| Intellectual disability, autosomal recessive 57 | 1 | May 8, 2026 |
| Intellectual disability, autosomal recessive 58 | 3 | May 8, 2026 |
| Intellectual disability, autosomal recessive 65 | 6 | May 21, 2026 |
| Intellectual disability, autosomal recessive 66 | 1 | Apr 23, 2026 |
| Intellectual disability, autosomal recessive 7 | 2 | Mar 16, 2026 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 6 | May 21, 2026 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Jan 9, 2026 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jan 13, 2026 |
| Intellectual disability-strabismus syndrome | 1 | May 8, 2026 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 1 | Apr 23, 2026 |
| Isolated cryptophthalmia | 2 | May 1, 2026 |
| Isolated microphthalmia 8 | 1 | May 1, 2026 |
| Isovaleryl-CoA dehydrogenase deficiency | 3 | May 1, 2026 |
| Johanson-Blizzard syndrome | 1 | May 1, 2026 |
| Joubert syndrome 13 | 1 | Jan 13, 2026 |
| Joubert syndrome 23 | 1 | May 1, 2026 |
| Joubert syndrome 24 | 1 | Apr 23, 2026 |
| Joubert syndrome 26 | 1 | May 1, 2026 |
| Joubert syndrome 33 | 1 | May 1, 2026 |
| Juvenile polyposis syndrome | 1 | Apr 23, 2026 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2 | May 8, 2026 |
| Juvenile retinoschisis | 1 | Mar 16, 2026 |
| KBG syndrome | 20 | May 1, 2026 |
| KINSSHIP syndrome | 1 | May 21, 2026 |
| Kabuki syndrome 1 | 11 | Apr 23, 2026 |
| Kabuki syndrome 2 | 1 | Feb 19, 2026 |
| Kartagener syndrome | 3 | Mar 16, 2026 |
| Kleefstra syndrome 1 | 3 | Mar 16, 2026 |
| Kleefstra syndrome 2 | 3 | Mar 16, 2026 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Jan 28, 2026 |
| Knobloch syndrome 1 | 1 | May 21, 2026 |
| Kohlschutter-Tonz syndrome-like | 1 | May 21, 2026 |
| Koolen-de Vries syndrome | 1 | May 8, 2026 |
| L-2-hydroxyglutaric aciduria | 1 | May 1, 2026 |
| LAMA2-related disorder | 1 | Nov 18, 2022 |
| LZTR1-related schwannomatosis | 3 | May 21, 2026 |
| Landau-Kleffner syndrome | 1 | May 1, 2026 |
| Leber congenital amaurosis 1 | 2 | May 8, 2026 |
| Leber congenital amaurosis 9 | 2 | Jan 28, 2026 |
| Left ventricular noncompaction 7 | 4 | May 8, 2026 |
| Legius syndrome | 2 | May 1, 2026 |
| Leri-Weill dyschondrosteosis | 1 | Mar 16, 2026 |
| Lethal Kniest-like syndrome | 1 | Apr 23, 2026 |
| Lethal multiple pterygium syndrome | 1 | May 21, 2026 |
| Leukodystrophy, hypomyelinating, 10 | 1 | Mar 16, 2026 |
| Leukodystrophy, hypomyelinating, 25 | 1 | May 21, 2026 |
| Leukodystrophy, hypomyelinating, 3 | 1 | Mar 16, 2026 |
| Leukodystrophy, hypomyelinating, 6 | 1 | Jan 13, 2026 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 2 | Mar 16, 2026 |
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 2 | Apr 23, 2026 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | May 21, 2026 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Apr 23, 2026 |
| Leukoencephalopathy with vanishing white matter 2 | 1 | May 1, 2026 |
| Leukoencephalopathy with vanishing white matter 3 | 1 | Jan 28, 2026 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 | May 1, 2026 |
| Lewy body dementia | 1 | Mar 16, 2026 |
| Li-Fraumeni syndrome 1 | 3 | May 8, 2026 |
| Lipoic acid synthetase deficiency | 1 | Mar 16, 2026 |
| Lisch epithelial corneal dystrophy | 1 | May 8, 2026 |
| Lissencephaly due to TUBA1A mutation | 7 | Apr 23, 2026 |
| Loeys-Dietz syndrome 4 | 1 | Mar 16, 2026 |
| Loeys-Dietz syndrome 6 | 3 | May 8, 2026 |
| Long QT syndrome 1 | 9 | Apr 23, 2026 |
| Long QT syndrome 2 | 5 | Mar 16, 2026 |
| Long QT syndrome 5 | 1 | May 21, 2026 |
| Lymphatic malformation 6 | 1 | May 1, 2026 |
| Lynch syndrome 1 | 4 | May 21, 2026 |
| Lynch syndrome 5 | 10 | May 21, 2026 |
| Lysinuric protein intolerance | 1 | May 1, 2026 |
| MEGF8-related Carpenter syndrome | 1 | Jan 13, 2026 |
| MFN2-related disorder | 1 | Nov 18, 2022 |
| MT-ND4-related disorders | 1 | Apr 23, 2026 |
| MT-ND5-related disorders | 1 | Apr 23, 2026 |
| MT-TH-related disorders | 1 | Jan 13, 2026 |
| MT-TK-related disorder | 1 | Jan 13, 2026 |
| MT-TL1-related disorders | 1 | Jan 13, 2026 |
| MYH10-related disorder | 1 | May 8, 2026 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Mar 16, 2026 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | May 1, 2026 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Jan 28, 2026 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Jan 13, 2026 |
| Malan overgrowth syndrome | 1 | May 8, 2026 |
| Malignant hyperthermia, susceptibility to, 1 | 15 | May 8, 2026 |
| Malignant hyperthermia, susceptibility to, 5 | 2 | Mar 16, 2026 |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 | Mar 16, 2026 |
| Mandibuloacral dysplasia with type B lipodystrophy | 2 | Apr 23, 2026 |
| Mandibulofacial dysostosis-microcephaly syndrome | 6 | May 8, 2026 |
| Maple syrup urine disease type 1A | 1 | Mar 16, 2026 |
| Maple syrup urine disease type 2 | 1 | May 1, 2026 |
| Marfan syndrome | 9 | May 1, 2026 |
| Marshall syndrome | 1 | Mar 16, 2026 |
| Mast syndrome | 1 | May 1, 2026 |
| Maturity-onset diabetes of the young type 1 | 4 | May 21, 2026 |
| Maturity-onset diabetes of the young type 3 | 4 | Apr 23, 2026 |
| Meckel syndrome, type 3 | 3 | Mar 16, 2026 |
| Meckel syndrome, type 6 | 2 | Mar 16, 2026 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 6 | May 1, 2026 |
| Megabladder, congenital | 1 | May 8, 2026 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 | May 21, 2026 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 2 | May 21, 2026 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | May 21, 2026 |
| Meier-Gorlin syndrome 1 | 2 | May 1, 2026 |
| Meier-Gorlin syndrome 3 | 1 | May 1, 2026 |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 2 | Mar 16, 2026 |
| Menkes kinky-hair syndrome | 1 | Jan 13, 2026 |
| Metachromatic leukodystrophy | 6 | May 21, 2026 |
| Methemoglobinemia, alpha type | 1 | May 1, 2026 |
| Methylmalonic aciduria, cblB type | 1 | Apr 23, 2026 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | May 1, 2026 |
| Microcephalic osteodysplastic primordial dwarfism type II | 2 | May 21, 2026 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 | May 21, 2026 |
| Microcephalic primordial dwarfism, Alazami type | 2 | Mar 16, 2026 |
| Microcephaly 5, primary, autosomal recessive | 1 | May 21, 2026 |
| Microcephaly 6, primary, autosomal recessive | 2 | May 1, 2026 |
| Microcephaly 7, primary, autosomal recessive | 1 | Jan 28, 2026 |
| Microcephaly 8, primary, autosomal recessive | 2 | Mar 16, 2026 |
| Microcephaly and chorioretinopathy 1 | 1 | May 21, 2026 |
| Microcephaly and chorioretinopathy 3 | 1 | Jan 13, 2026 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Apr 23, 2026 |
| Microcephaly, normal intelligence and immunodeficiency | 2 | Mar 16, 2026 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 3 | Mar 16, 2026 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Mar 16, 2026 |
| Microphthalmia, syndromic 12 | 2 | May 21, 2026 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 1 | Feb 19, 2026 |
| Miller syndrome | 1 | May 1, 2026 |
| Mirror movements 1 | 4 | May 8, 2026 |
| Mitochondrial DNA depletion syndrome 19 | 1 | May 8, 2026 |
| Mitochondrial DNA depletion syndrome 8a | 4 | Mar 16, 2026 |
| Mitochondrial DNA depletion syndrome 9 | 1 | May 21, 2026 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | May 1, 2026 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 1 | May 8, 2026 |
| Mitochondrial complex I deficiency, nuclear type 17 | 3 | Mar 16, 2026 |
| Mitochondrial complex I deficiency, nuclear type 19 | 1 | Jan 28, 2026 |
| Mitochondrial complex I deficiency, nuclear type 21 | 2 | May 1, 2026 |
| Mitochondrial complex I deficiency, nuclear type 29 | 1 | Jan 13, 2026 |
| Mitochondrial complex I deficiency, nuclear type 34 | 1 | May 8, 2026 |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 | Jan 28, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Mar 16, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 11 | 1 | Mar 16, 2026 |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 | May 8, 2026 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 6 | May 21, 2026 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 4 | Apr 23, 2026 |
| Mitochondrial trifunctional protein deficiency 2 | 1 | May 8, 2026 |
| Mosaic variegated aneuploidy syndrome 2 | 1 | Apr 23, 2026 |
| Mowat-Wilson syndrome | 7 | May 21, 2026 |
| Moyamoya disease 2 | 1 | May 8, 2026 |
| Mucocutaneous ulceration, chronic | 1 | Apr 23, 2026 |
| Mucolipidosis type IV | 2 | May 8, 2026 |
| Mucopolysaccharidosis, MPS-II | 2 | Feb 19, 2026 |
| Mucopolysaccharidosis, MPS-III-A | 8 | May 8, 2026 |
| Mucopolysaccharidosis, MPS-III-B | 4 | May 8, 2026 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Mar 16, 2026 |
| Mucopolysaccharidosis, MPS-IV-A | 2 | May 1, 2026 |
| Multiple acyl-CoA dehydrogenase deficiency | 6 | May 1, 2026 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 | May 8, 2026 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 3 | May 21, 2026 |
| Multiple endocrine neoplasia type 2B | 1 | Mar 16, 2026 |
| Multiple epiphyseal dysplasia type 1 | 1 | May 8, 2026 |
| Multiple epiphyseal dysplasia, Beighton type | 1 | Apr 23, 2026 |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 | May 8, 2026 |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 | May 21, 2026 |
| Multiple mitochondrial dysfunctions syndrome 4 | 1 | May 1, 2026 |
| Multiple mitochondrial dysfunctions syndrome 9b | 1 | May 8, 2026 |
| Multiple sulfatase deficiency | 1 | May 21, 2026 |
| Muscle AMP deaminase deficiency | 1 | Apr 23, 2026 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Jan 13, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Mar 16, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Apr 23, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2 | May 21, 2026 |
| Myasthenic syndrome, congenital, 22 | 1 | May 21, 2026 |
| Myasthenic syndrome, congenital, 25, presynaptic | 2 | Apr 23, 2026 |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 | May 8, 2026 |
| Myopathy with abnormal lipid metabolism | 1 | Jan 13, 2026 |
| Myopathy, congenital, with tremor | 1 | Apr 23, 2026 |
| Myopathy, distal, 5 | 1 | May 1, 2026 |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 | Apr 23, 2026 |
| Myopathy, proximal, and ophthalmoplegia | 2 | May 8, 2026 |
| Nager syndrome | 2 | Mar 16, 2026 |
| Nail-patella syndrome | 1 | Mar 16, 2026 |
| Nance-Horan syndrome | 1 | Mar 16, 2026 |
| Nemaline myopathy 2 | 2 | May 21, 2026 |
| Nemaline myopathy 8 | 1 | Jan 13, 2026 |
| Nephronophthisis 13 | 1 | Jan 13, 2026 |
| Nephronophthisis 15 | 4 | Apr 23, 2026 |
| Nephronophthisis 4 | 3 | Apr 23, 2026 |
| Nephropathic cystinosis | 2 | May 8, 2026 |
| Nephrotic syndrome 16 | 1 | Jan 13, 2026 |
| Nephrotic syndrome, IIa 26 | 2 | May 21, 2026 |
| Nephrotic syndrome, type 2 | 5 | Mar 16, 2026 |
| Nephrotic syndrome, type 21 | 1 | Apr 23, 2026 |
| Neurodegeneration with brain iron accumulation 2B | 1 | May 21, 2026 |
| Neurodegeneration with brain iron accumulation 5 | 3 | Feb 19, 2026 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2 | Apr 23, 2026 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 1 | Jan 13, 2026 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 5 | May 8, 2026 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 2 | May 8, 2026 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 3 | May 8, 2026 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 1 | Apr 23, 2026 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Apr 23, 2026 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 1 | May 8, 2026 |
| Neurodevelopmental disorder with hypotonia and gross motor and speech delay | 1 | Apr 23, 2026 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2 | May 8, 2026 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 4 | Apr 23, 2026 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | 1 | Apr 23, 2026 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Jan 13, 2026 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 1 | Jan 28, 2026 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | Jan 28, 2026 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Mar 16, 2026 |
| Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | 3 | Apr 23, 2026 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 1 | May 1, 2026 |
| Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia | 1 | Mar 16, 2026 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 1 | Jan 13, 2026 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Nov 18, 2022 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 1 | Jan 28, 2026 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | May 21, 2026 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | May 1, 2026 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | May 1, 2026 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 3 | May 8, 2026 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 1 | Apr 23, 2026 |
| Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 1 | Jan 13, 2026 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | May 1, 2026 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 3 | May 1, 2026 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 2 | Apr 23, 2026 |
| Neurofibromatosis, type 1 | 23 | May 8, 2026 |
| Neurofibromatosis, type 2 | 2 | Jan 13, 2026 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Jan 28, 2026 |
| Neuronal ceroid lipofuscinosis 3 | 2 | May 1, 2026 |
| Neuronal ceroid lipofuscinosis 5 | 1 | Jan 13, 2026 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 1 | Jan 13, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 1 | May 1, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 2 | Apr 23, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | May 1, 2026 |
| Neuroocular syndrome 1 | 2 | May 8, 2026 |
| Neurooculocardiogenitourinary syndrome | 1 | Jan 13, 2026 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Jan 13, 2026 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 | May 1, 2026 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 1 | Jan 13, 2026 |
| Neutral 1 amino acid transport defect | 1 | Mar 16, 2026 |
| Neutropenia, severe congenital, 8, autosomal dominant | 1 | May 1, 2026 |
| Niemann-Pick disease, type C1 | 3 | May 8, 2026 |
| Noonan syndrome 1 | 12 | Apr 23, 2026 |
| Noonan syndrome 10 | 1 | May 21, 2026 |
| Noonan syndrome 12 | 1 | Apr 23, 2026 |
| Noonan syndrome 13 | 1 | Jan 13, 2026 |
| Noonan syndrome 2 | 6 | May 21, 2026 |
| Noonan syndrome 3 | 2 | Apr 23, 2026 |
| Noonan syndrome 4 | 2 | May 8, 2026 |
| Noonan syndrome 5 | 1 | Jan 13, 2026 |
| Noonan syndrome 8 | 4 | Mar 16, 2026 |
| Noonan syndrome 9 | 1 | May 1, 2026 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Jan 13, 2026 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 | Jan 13, 2026 |
| Norman-Roberts syndrome | 1 | Jan 28, 2026 |
| Nystagmus 1, congenital, X-linked | 1 | Feb 19, 2026 |
| Occipital pachygyria and polymicrogyria | 2 | Mar 16, 2026 |
| Occult macular dystrophy | 1 | Mar 16, 2026 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Apr 23, 2026 |
| Oculocutaneous albinism type 3 | 1 | Mar 16, 2026 |
| Oculocutaneous albinism type 4 | 2 | Mar 16, 2026 |
| Oculofaciocardiodental syndrome | 1 | Mar 16, 2026 |
| Oculogastrointestinal-neurodevelopmental syndrome | 1 | May 1, 2026 |
| Odonto-onycho-dermal dysplasia | 2 | May 21, 2026 |
| Okur-Chung neurodevelopmental syndrome | 1 | May 21, 2026 |
| Oligodontia-cancer predisposition syndrome | 2 | May 8, 2026 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Jan 13, 2026 |
| Ornithine aminotransferase deficiency | 2 | Apr 23, 2026 |
| Ornithine carbamoyltransferase deficiency | 4 | Mar 16, 2026 |
| Orofaciodigital syndrome V | 1 | Mar 16, 2026 |
| Orthostatic hypotension 1 | 1 | Mar 16, 2026 |
| Osteodysplastic primordial dwarfism, type 1 | 1 | May 21, 2026 |
| Osteogenesis imperfecta type 15 | 1 | May 21, 2026 |
| Osteogenesis imperfecta type 5 | 1 | Apr 23, 2026 |
| Osteogenesis imperfecta type 7 | 1 | May 21, 2026 |
| Osteogenesis imperfecta type 8 | 1 | Jan 28, 2026 |
| Osteogenesis imperfecta, perinatal lethal | 2 | May 8, 2026 |
| Otofacial neurodevelopmental syndrome | 1 | May 1, 2026 |
| Otofaciocervical syndrome 2 | 1 | May 21, 2026 |
| PEHO syndrome | 2 | May 8, 2026 |
| PGM1-congenital disorder of glycosylation | 3 | May 1, 2026 |
| PMM2-congenital disorder of glycosylation | 10 | May 1, 2026 |
| POLG-related disorder | 1 | Jan 28, 2026 |
| POLR3A-related disorder | 2 | Nov 18, 2022 |
| POMGNT1-related disorder | 1 | Jan 28, 2026 |
| PPARG-related familial partial lipodystrophy | 1 | May 21, 2026 |
| Paget disease of bone 3 | 1 | Jan 13, 2026 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | May 8, 2026 |
| Pan-Chung-Bellen syndrome | 3 | Mar 16, 2026 |
| Pancreatic triacylglycerol lipase deficiency | 1 | Apr 23, 2026 |
| Parenti-mignot neurodevelopmental syndrome | 4 | Apr 23, 2026 |
| Parkinson disease 24, autosomal dominant, susceptibility to | 1 | Mar 16, 2026 |
| Parkinson disease, late-onset | 1 | Mar 16, 2026 |
| Peripheral motor neuropathy, childhood-onset, biotin-responsive | 1 | Jan 13, 2026 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 1 | Mar 16, 2026 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Jan 13, 2026 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 1 | Apr 23, 2026 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | May 21, 2026 |
| Peters plus syndrome | 1 | May 1, 2026 |
| Pfeiffer syndrome | 1 | Apr 23, 2026 |
| Phelan-McDermid syndrome | 7 | May 21, 2026 |
| Phenylketonuria | 10 | Apr 23, 2026 |
| Pheochromocytoma | 1 | May 21, 2026 |
| Pheochromocytoma/paraganglioma syndrome 1 | 1 | Apr 23, 2026 |
| Pheochromocytoma/paraganglioma syndrome 2 | 2 | Apr 23, 2026 |
| Pheochromocytoma/paraganglioma syndrome 4 | 3 | Jan 28, 2026 |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 | Mar 16, 2026 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 1 | May 21, 2026 |
| Phytanic acid storage disease | 1 | Mar 16, 2026 |
| Pigmentary pallidal degeneration | 2 | May 21, 2026 |
| Pigmentary retinal dystrophy | 1 | Jan 13, 2026 |
| Pigmented nodular adrenocortical disease, primary, 2 | 1 | May 21, 2026 |
| Pitt-Hopkins syndrome | 2 | May 8, 2026 |
| Pitt-Hopkins-like syndrome 2 | 1 | May 8, 2026 |
| Plasminogen deficiency, type I | 1 | Jan 9, 2026 |
| Polycystic kidney disease 2 | 5 | Mar 16, 2026 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 3 | Apr 23, 2026 |
| Polycystic kidney disease 4 | 1 | Jan 7, 2026 |
| Polycystic kidney disease 9, susceptibility to | 2 | May 1, 2026 |
| Polycystic kidney disease, adult type | 35 | May 1, 2026 |
| Polycystic liver disease 1 | 1 | May 8, 2026 |
| Polyglandular autoimmune syndrome, type 1 | 1 | May 21, 2026 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 1 | May 21, 2026 |
| Pontocerebellar hypoplasia type 2A | 2 | May 8, 2026 |
| Pontocerebellar hypoplasia type 7 | 2 | Jan 28, 2026 |
| Pontocerebellar hypoplasia type 8 | 1 | May 8, 2026 |
| Pontocerebellar hypoplasia, type 13 | 2 | Apr 23, 2026 |
| Pontocerebellar hypoplasia, type 1D | 2 | Mar 16, 2026 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Mar 16, 2026 |
| Primary Mitochondrial Disorders | 61 | Apr 23, 2026 |
| Primary ciliary dyskinesia 15 | 1 | May 8, 2026 |
| Primary ciliary dyskinesia 17 | 1 | May 8, 2026 |
| Primary ciliary dyskinesia 3 | 7 | Mar 16, 2026 |
| Primary hyperoxaluria type 3 | 4 | Apr 23, 2026 |
| Primary hyperoxaluria, type I | 3 | May 21, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | May 1, 2026 |
| Propionic acidemia | 1 | May 1, 2026 |
| Proteinuria, chronic benign | 2 | Mar 16, 2026 |
| Proteus syndrome | 1 | Apr 27, 2026 |
| Proximal myopathy with extrapyramidal signs | 1 | Mar 16, 2026 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | Apr 23, 2026 |
| Pseudohypoparathyroidism type I A | 2 | May 21, 2026 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 | Mar 16, 2026 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | May 1, 2026 |
| Pulmonary hypertension, primary, 2 | 2 | May 1, 2026 |
| Purine-nucleoside phosphorylase deficiency | 1 | Jan 13, 2026 |
| Pyridoxine-dependent epilepsy | 1 | Jan 13, 2026 |
| Pyruvate carboxylase deficiency | 2 | Apr 23, 2026 |
| Pyruvate dehydrogenase E1-alpha deficiency | 5 | Mar 16, 2026 |
| Pyruvate dehydrogenase phosphatase deficiency | 1 | Mar 16, 2026 |
| Pyruvate kinase deficiency of red cells | 4 | May 21, 2026 |
| RNU2-2P-related disorders | 1 | Apr 23, 2026 |
| RPE65-related retinopathy | 1 | Jan 28, 2026 |
| Radial aplasia-thrombocytopenia syndrome | 3 | May 1, 2026 |
| Radio-Tartaglia syndrome | 5 | Apr 23, 2026 |
| Radioulnar synostosis, nonsyndromic, susceptibility to | 1 | May 1, 2026 |
| Rafiq syndrome | 1 | Mar 16, 2026 |
| Rapp-Hodgkin syndrome | 1 | Jan 13, 2026 |
| Rauch-Steindl syndrome | 4 | Mar 16, 2026 |
| Recessive dystrophic epidermolysis bullosa | 1 | Jan 13, 2026 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 | May 21, 2026 |
| Regressive spondylometaphyseal dysplasia | 1 | Mar 16, 2026 |
| Renal cysts and diabetes syndrome | 2 | May 8, 2026 |
| Renal hypodysplasia/aplasia 3 | 3 | May 8, 2026 |
| Renal tubular acidosis with progressive nerve deafness | 2 | May 8, 2026 |
| Renpenning syndrome | 1 | Feb 19, 2026 |
| Retinal cone dystrophy 4 | 1 | Apr 23, 2026 |
| Retinitis pigmentosa 28 | 2 | May 8, 2026 |
| Retinitis pigmentosa 37 | 2 | May 1, 2026 |
| Retinitis pigmentosa 39 | 1 | May 21, 2026 |
| Retinitis pigmentosa 45 | 1 | May 1, 2026 |
| Retinitis pigmentosa 49 | 3 | Mar 16, 2026 |
| Retinitis pigmentosa 59 | 1 | Apr 23, 2026 |
| Retinitis pigmentosa 66 | 1 | Mar 16, 2026 |
| Retinitis pigmentosa 67 | 1 | Mar 16, 2026 |
| Retinitis pigmentosa 88 | 1 | Mar 16, 2026 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 1 | Mar 16, 2026 |
| Retinoblastoma | 3 | May 1, 2026 |
| Rett syndrome | 6 | Feb 19, 2026 |
| Rhabdoid tumor predisposition syndrome 2 | 1 | May 8, 2026 |
| Rhabdomyolysis, susceptibility to, 1 | 11 | May 21, 2026 |
| Rienhoff syndrome | 2 | May 1, 2026 |
| Right atrial isomerism | 1 | Jan 28, 2026 |
| Rothmund-Thomson syndrome type 2 | 1 | Mar 16, 2026 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | May 1, 2026 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | May 21, 2026 |
| SCN8A-related disorder | 1 | Nov 18, 2022 |
| SERPINA1-related disorder | 1 | Jan 9, 2026 |
| SHANK2-related disorder | 1 | Apr 23, 2026 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 5 | May 1, 2026 |
| SLC12A2-related disorder | 1 | Jan 28, 2026 |
| Schaaf-Yang syndrome | 2 | May 1, 2026 |
| Schuurs-Hoeijmakers syndrome | 1 | Apr 23, 2026 |
| Schwartz-Jampel syndrome type 1 | 1 | Apr 23, 2026 |
| Seckel syndrome 11 | 1 | Apr 23, 2026 |
| Seizures, benign familial neonatal, 1 | 1 | May 21, 2026 |
| Seizures, benign familial neonatal, 2 | 1 | Mar 16, 2026 |
| Seizures-scoliosis-macrocephaly syndrome | 1 | Apr 23, 2026 |
| Semidominant ALPL-related disorders | 10 | Apr 23, 2026 |
| Semidominant FLG-related disorders | 1 | May 1, 2026 |
| Semidominant MFN2-related disorders | 1 | Jan 28, 2026 |
| Senior-Loken syndrome 9 | 2 | May 21, 2026 |
| Severe X-linked intellectual disability, Gustavson type | 1 | Apr 23, 2026 |
| Severe X-linked myotubular myopathy | 2 | Feb 19, 2026 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 1 | Mar 16, 2026 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 | May 21, 2026 |
| Severe early-childhood-onset retinal dystrophy | 11 | May 1, 2026 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 3 | May 8, 2026 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Mar 16, 2026 |
| Severe myoclonic epilepsy in infancy | 3 | May 21, 2026 |
| Short QT syndrome 7 | 1 | May 21, 2026 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 2 | Apr 23, 2026 |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 1 | Mar 16, 2026 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 1 | Jan 13, 2026 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 5 | Mar 16, 2026 |
| Sifrim-Hitz-Weiss syndrome | 2 | Apr 23, 2026 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Feb 19, 2026 |
| Sjögren-Larsson syndrome | 1 | May 8, 2026 |
| Smith-Lemli-Opitz syndrome | 4 | Apr 23, 2026 |
| Smith-Magenis syndrome | 3 | May 8, 2026 |
| Snijders Blok-Campeau syndrome | 2 | May 8, 2026 |
| Snijders blok-fisher syndrome | 1 | May 21, 2026 |
| Spastic ataxia 2 | 1 | May 8, 2026 |
| Spastic paraparesis-cataracts-speech delay syndrome | 1 | Nov 18, 2022 |
| Spastic paraplegia 30A, autosomal dominant | 2 | May 21, 2026 |
| Spastic paraplegia 79A, autosomal dominant, with ataxia | 1 | Mar 16, 2026 |
| Spastic paraplegia 80, autosomal dominant | 1 | Mar 16, 2026 |
| Spastic paraplegia 83, autosomal recessive | 1 | Jan 28, 2026 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 2 | Mar 16, 2026 |
| Spermatogenic failure 34 | 1 | May 21, 2026 |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 2 | Mar 16, 2026 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 4 | Mar 16, 2026 |
| Spinocerebellar ataxia 47 | 1 | Jan 28, 2026 |
| Spinocerebellar ataxia 48 | 2 | May 1, 2026 |
| Spinocerebellar ataxia 50 | 1 | May 8, 2026 |
| Spinocerebellar ataxia type 14 | 1 | May 8, 2026 |
| Spinocerebellar ataxia type 21 | 1 | Jan 28, 2026 |
| Spinocerebellar ataxia type 25 | 2 | May 8, 2026 |
| Spinocerebellar ataxia type 5 | 4 | Apr 23, 2026 |
| Spinocerebellar ataxia, autosomal recessive 30 | 1 | Mar 16, 2026 |
| Spinocerebellar ataxia, autosomal recessive 31 | 1 | Jan 13, 2026 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 6 | Mar 16, 2026 |
| Stankiewicz-Isidor syndrome | 1 | May 8, 2026 |
| Stickler syndrome type 1 | 3 | Apr 23, 2026 |
| Stickler syndrome type 2 | 2 | May 1, 2026 |
| Stickler syndrome, type 5 | 1 | Jan 28, 2026 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Apr 23, 2026 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Jan 13, 2026 |
| Symmetrical dyschromatosis of extremities | 1 | Mar 16, 2026 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Jan 13, 2026 |
| Syndromic X-linked intellectual disability Najm type | 3 | Feb 19, 2026 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Feb 19, 2026 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | May 8, 2026 |
| TCF12-related craniosynostosis | 4 | May 1, 2026 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Jan 28, 2026 |
| TULP1-related disorder | 1 | Jan 28, 2026 |
| Tangier disease | 3 | Mar 16, 2026 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | May 8, 2026 |
| Tay-Sachs disease | 2 | May 1, 2026 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 2 | Mar 16, 2026 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Apr 23, 2026 |
| Temtamy syndrome | 1 | Apr 23, 2026 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | Mar 16, 2026 |
| Thanatophoric dysplasia type 1 | 1 | Mar 16, 2026 |
| Thanatophoric dysplasia, type 2 | 1 | Mar 16, 2026 |
| Thrombocythemia 2 | 1 | Jan 28, 2026 |
| Thrombocythemia 3 | 1 | Mar 16, 2026 |
| Thrombocytopenia 12 with or without myopathy | 1 | Jan 13, 2026 |
| Thrombophilia due to activated protein C resistance | 1 | Nov 18, 2022 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 | May 21, 2026 |
| Thrombophilia due to thrombin defect | 1 | Jan 7, 2026 |
| Thyroid dyshormonogenesis 1 | 1 | May 8, 2026 |
| Thyroid dyshormonogenesis 6 | 2 | May 1, 2026 |
| Timothy syndrome | 1 | Apr 23, 2026 |
| Tolchin-Le Caignec syndrome | 1 | Apr 23, 2026 |
| Tooth agenesis, selective, 1 | 1 | Jan 13, 2026 |
| Tooth agenesis, selective, 4 | 1 | Jan 13, 2026 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 1 | Jan 13, 2026 |
| Tremor, hereditary essential, 4 | 1 | May 1, 2026 |
| Trichorhinophalangeal dysplasia type I | 1 | Mar 16, 2026 |
| Trimethylaminuria | 2 | May 21, 2026 |
| Troyer syndrome | 1 | May 1, 2026 |
| Tuberous sclerosis 1 | 6 | Mar 16, 2026 |
| Tuberous sclerosis 2 | 4 | May 1, 2026 |
| Tumor predisposition syndrome 3 | 1 | Jan 13, 2026 |
| Tumoral calcinosis, hyperphosphatemic, familial, 3 | 1 | May 1, 2026 |
| Tyrosinase-positive oculocutaneous albinism | 4 | May 1, 2026 |
| Tyrosinemia type I | 1 | Jan 13, 2026 |
| Tyrosinemia type III | 1 | Apr 23, 2026 |
| UDPglucose-4-epimerase deficiency | 2 | Jan 28, 2026 |
| UNC13A-related disorder | 1 | May 8, 2026 |
| USH2A-related disorder | 1 | Nov 18, 2022 |
| Ullrich congenital muscular dystrophy 1A | 1 | May 21, 2026 |
| Ullrich congenital muscular dystrophy 1B | 1 | Jan 28, 2026 |
| Ulnar-mammary syndrome | 1 | Apr 23, 2026 |
| Uncombable hair syndrome 1 | 2 | Apr 23, 2026 |
| Undefined NRXN1-related disorders | 1 | May 8, 2026 |
| Upshaw-Schulman syndrome | 3 | Mar 16, 2026 |
| Urofacial syndrome type 1 | 1 | Apr 23, 2026 |
| Usher syndrome type 1 | 5 | Apr 23, 2026 |
| Usher syndrome type 2A | 1 | May 21, 2026 |
| Usher syndrome type 3A | 2 | Jan 28, 2026 |
| Usmani-Riazuddin syndrome, autosomal dominant | 2 | May 1, 2026 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | Feb 19, 2026 |
| VPS13A-related neurodegenerative disease | 5 | Mar 16, 2026 |
| Van der Woude syndrome 1 | 3 | May 21, 2026 |
| Variegate porphyria | 2 | May 21, 2026 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Jan 13, 2026 |
| Very long chain acyl-CoA dehydrogenase deficiency | 5 | May 8, 2026 |
| Visceral myopathy 1 | 1 | May 21, 2026 |
| Visceral myopathy 2 | 1 | Jan 28, 2026 |
| Vissers-Bodmer syndrome | 1 | May 1, 2026 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 3 | Apr 23, 2026 |
| Vitelliform macular dystrophy 2 | 1 | Apr 23, 2026 |
| Von Hippel-Lindau syndrome | 1 | May 21, 2026 |
| Waardenburg syndrome type 1 | 2 | May 21, 2026 |
| Warburg micro syndrome 1 | 2 | May 21, 2026 |
| Warsaw breakage syndrome | 1 | Jan 13, 2026 |
| Weill-Marchesani 4 syndrome, recessive | 1 | May 1, 2026 |
| Weiss-Kruszka syndrome | 1 | Mar 16, 2026 |
| Wiedemann-Steiner syndrome | 5 | Apr 23, 2026 |
| Wilson disease | 11 | May 1, 2026 |
| Wolfram syndrome 1 | 6 | Mar 16, 2026 |
| X-linked ARX-related disorders | 3 | Mar 16, 2026 |
| X-linked ATRX-related disorders | 1 | Feb 19, 2026 |
| X-linked Alport syndrome | 8 | Feb 19, 2026 |
| X-linked BCOR-related disorders | 1 | Mar 16, 2026 |
| X-linked CACNA1F-related disorders | 2 | Feb 19, 2026 |
| X-linked DMD-related disorders | 4 | Mar 16, 2026 |
| X-linked FLNA-related disorders | 2 | Feb 19, 2026 |
| X-linked GATA1-related disorders | 1 | Feb 19, 2026 |
| X-linked L1CAM-related disorders | 2 | Feb 19, 2026 |
| X-linked MECP2-related disorders | 5 | Feb 19, 2026 |
| X-linked MED12-related disorders | 1 | Feb 19, 2026 |
| X-linked NHS-related disorders | 1 | Mar 16, 2026 |
| X-linked PHKA2-related disorders | 1 | Mar 16, 2026 |
| X-linked RPGR-related disorders | 3 | Mar 16, 2026 |
| X-linked STAG2-related disorders | 1 | Feb 19, 2026 |
| X-linked agammaglobulinemia | 2 | Feb 19, 2026 |
| X-linked chondrodysplasia punctata 1 | 2 | Mar 16, 2026 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Feb 19, 2026 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 | Feb 19, 2026 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Jan 12, 2026 |
| X-linked severe combined immunodeficiency | 1 | Feb 19, 2026 |
| Xeroderma pigmentosum, group G | 1 | May 1, 2026 |
| ZTTK syndrome | 2 | May 21, 2026 |
| Zaki syndrome | 1 | Jan 28, 2026 |
| autosomal dominant ATP1A2-related disorders | 1 | May 21, 2026 |
| autosomal dominant COL1A1-related osteogenesis imperfecta | 9 | May 8, 2026 |
| autosomal dominant GBA1-related disorders | 2 | May 21, 2026 |
| autosomal dominant LMNA-related disorders | 1 | May 21, 2026 |
| autosomal dominant NCKAP1-related neurodevelopmental disorder | 1 | May 21, 2026 |
| autosomal dominant PALB2-related cancer predisposition | 11 | May 1, 2026 |
| autosomal recessive ABCA4-related retinopathy | 4 | May 1, 2026 |
| autosomal recessive B3GALT6-related disorders | 1 | Apr 23, 2026 |
| autosomal recessive CDH23-related disorders | 3 | Mar 16, 2026 |
| autosomal recessive CRB1-related retinopathy | 1 | May 21, 2026 |
| autosomal recessive GJC2-related disorders | 1 | May 21, 2026 |
| autosomal recessive MVK-related disorders | 2 | Apr 23, 2026 |
| autosomal recessive NMNAT1-related disorders. | 1 | Jan 28, 2026 |
| autosomal recessive SMPD1-related disorders | 1 | Jan 28, 2026 |
| autosomal recessive TBCE-related disorders | 1 | May 21, 2026 |
| autosomal recessive disorders of intracellular cobalamin metabolism | 1 | May 21, 2026 |
| semidominant CFH-related disorders | 1 | May 21, 2026 |
| von Willebrand disease type 2 | 3 | Apr 23, 2026 |
| von Willebrand disease type 2N | 1 | Nov 18, 2022 |
| von Willebrand disease type 3 | 1 | Jan 13, 2026 |
