| 1p13.3 deletion syndrome | 1 | Jun 24, 2019 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Jan 19, 2024 |
| 3-methylglutaconic aciduria type 8 | 2 | Mar 5, 2025 |
| 46,XX sex reversal 4 | 1 | Aug 4, 2017 |
| ABCA2-related disorder | 2 | Mar 27, 2018 |
| ACCES syndrome | 1 | Dec 6, 2024 |
| ACOX1-related disorder | 1 | Jan 3, 2024 |
| ACTN2-related disorder | 1 | Aug 6, 2024 |
| ADCY2-related disorder | 1 | Apr 5, 2024 |
| ADGRV1-related myoclonic epilepsy | 1 | Sep 17, 2019 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 | Apr 23, 2020 |
| AFG3L2-related disorder | 1 | May 28, 2025 |
| AGTPBP1-related disorder | 2 | May 29, 2019 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Dec 3, 2021 |
| AIFM1-related hypomyelination with spondylometaphyseal dysplasia | 1 | Nov 27, 2018 |
| ALG1-congenital disorder of glycosylation | 3 | Mar 27, 2018 |
| ANE syndrome | 3 | Mar 6, 2026 |
| ARX-associated condition | 1 | May 22, 2019 |
| ATAD3 gene cluster related condition | 1 | May 26, 2022 |
| ATAD3A-related condition | 1 | May 28, 2025 |
| ATG4D-related neurodevelopmental condition | 2 | Feb 27, 2025 |
| ATP1A1-related disorder | 1 | Dec 6, 2024 |
| ATP1A3-related disorder | 1 | Aug 6, 2024 |
| ATP5F1A-related disorder | 2 | May 26, 2022 |
| ATP5PO-related disorder | 1 | Aug 25, 2020 |
| AXIN2-related disorder | 1 | Aug 18, 2022 |
| Actin accumulation myopathy | 1 | Apr 5, 2024 |
| Action myoclonus-renal failure syndrome | 1 | Aug 4, 2017 |
| Adrenoleukodystrophy | 1 | Mar 27, 2018 |
| Adult hypophosphatasia | 3 | Apr 3, 2026 |
| Adult polyglucosan body disease | 4 | May 28, 2025 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Feb 23, 2022 |
| Aicardi-Goutieres syndrome 4 | 1 | Nov 27, 2018 |
| Aicardi-Goutieres syndrome 9 | 2 | Jan 4, 2023 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Jul 17, 2018 |
| Alexander disease | 1 | May 29, 2019 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Sep 2, 2021 |
| Alpha-1-antitrypsin deficiency | 1 | Feb 23, 2022 |
| Alstrom syndrome | 1 | May 22, 2019 |
| Alternating hemiplegia of childhood 2 | 1 | Mar 27, 2018 |
| Alzheimer disease 3 | 1 | Mar 27, 2018 |
| Amelocerebrohypohidrotic syndrome | 2 | Aug 4, 2017 |
| Aortic aneurysm, familial thoracic 10 | 1 | Aug 6, 2024 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 2 | Aug 6, 2024 |
| Arthrogryposis, distal, with impaired proprioception and touch | 2 | Mar 27, 2018 |
| Arts syndrome | 1 | Apr 5, 2024 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 3 | Jul 17, 2018 |
| Ataxia-telangiectasia syndrome | 1 | Apr 5, 2024 |
| Ataxia-telangiectasia-like disorder 1 | 2 | May 22, 2019 |
| Atopic eczema | 1 | Feb 21, 2019 |
| Atrial septal defect 8 | 1 | Sep 17, 2019 |
| Atypical Rubinstein-Taybi | 1 | Aug 28, 2025 |
| Au-Kline syndrome | 2 | Sep 17, 2019 |
| Autism | 1 | Jul 23, 2024 |
| Autism spectrum disorder due to AUTS2 deficiency | 3 | Nov 21, 2025 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Apr 19, 2024 |
| Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency | 1 | Nov 21, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Apr 15, 2019 |
| Autosomal dominant distal renal tubular acidosis | 1 | May 28, 2025 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 2 | Feb 23, 2022 |
| Autosomal dominant osteopetrosis 2 | 1 | Mar 3, 2021 |
| Autosomal recessive DOPA responsive dystonia | 2 | Apr 5, 2024 |
| Autosomal recessive RNU4-2-related neurodevelopmental disorder | 2 | Aug 28, 2025 |
| Autosomal recessive ataxia, Beauce type | 2 | May 28, 2021 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Aug 18, 2022 |
| Autosomal recessive complex spastic paraplegia type 9B | 2 | Mar 6, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | Aug 24, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 | Mar 27, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 5 | Aug 6, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 2 | Mar 27, 2018 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Jan 14, 2019 |
| Autosomal recessive osteopetrosis 1 | 1 | Mar 3, 2021 |
| Autosomal recessive spastic paraplegia type 76 | 2 | Jul 17, 2018 |
| Autosomal recessive spastic paraplegia type 78 | 2 | Jan 4, 2023 |
| Autosomal systemic lupus erythematosus type 16 | 2 | May 28, 2021 |
| BAP1-associated neurodevelopmental disorder | 1 | Dec 4, 2020 |
| BENTA disease | 1 | Feb 27, 2025 |
| BICRA-related disorder | 1 | Mar 3, 2021 |
| BLK-related disorder | 1 | Apr 5, 2024 |
| Baraitser-winter syndrome 2 | 1 | Oct 28, 2021 |
| Basal ganglia calcification, idiopathic, 5 | 2 | Mar 6, 2026 |
| Becker muscular dystrophy | 3 | Mar 6, 2026 |
| Beckwith-Wiedemann syndrome | 1 | Aug 28, 2025 |
| Bethlem myopathy 1A | 2 | Jul 17, 2018 |
| Bifunctional peroxisomal enzyme deficiency | 2 | Nov 21, 2025 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Aug 6, 2024 |
| Bohring-Opitz syndrome | 2 | Apr 23, 2020 |
| Bone mineral density quantitative trait locus 18 | 1 | Jan 4, 2023 |
| Brachydactyly type B1 | 1 | Nov 21, 2025 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Aug 24, 2020 |
| Branched-chain keto acid dehydrogenase kinase deficiency | 2 | Nov 27, 2018 |
| Brown-Vialetto-van Laere syndrome 1 | 2 | Aug 4, 2017 |
| CACNA1A-related disorder | 3 | Aug 6, 2024 |
| CACNA1C-related disorder | 2 | May 20, 2020 |
| CALM1-related disorder | 1 | Mar 6, 2026 |
| CAMK2D-related condition | 1 | Feb 27, 2025 |
| CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | 1 | Mar 6, 2026 |
| CBL-related disorder | 1 | Aug 6, 2024 |
| CDC42-associated inflammatory disease | 1 | Jun 11, 2025 |
| CDH2-related disorder | 1 | Jul 17, 2025 |
| CDK19-related disorder | 1 | May 20, 2020 |
| CDKL2-related condition | 1 | May 28, 2025 |
| CDKL5-related disorder | 1 | Apr 23, 2020 |
| CHARGE syndrome | 2 | Aug 18, 2022 |
| CHIME syndrome | 2 | Nov 21, 2025 |
| CHRNA3-related disorder | 2 | Sep 17, 2019 |
| CLDN5 deficiency | 1 | Feb 27, 2025 |
| COG4-congenital disorder of glycosylation | 1 | May 29, 2019 |
| COPB2-related disorder | 2 | Dec 3, 2021 |
| CRELD1-related disorder | 2 | Aug 24, 2020 |
| CTNNA1-associated FEVR | 1 | Jan 4, 2023 |
| CYP2U1-related disorder | 2 | Dec 6, 2024 |
| Capillary malformation | 1 | Mar 27, 2018 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Dec 3, 2021 |
| Cardiofaciocutaneous spectrum disorder | 1 | Feb 27, 2025 |
| Cardiofaciocutaneous syndrome 1 | 1 | Mar 27, 2018 |
| Cardiofaciocutaneous syndrome 3 | 1 | Feb 21, 2019 |
| Cardiofaciocutaneous syndrome 4 | 1 | Aug 24, 2020 |
| Cardiospondylocarpofacial syndrome | 1 | Mar 6, 2026 |
| Carey-Fineman-Ziter syndrome 1 | 2 | Nov 21, 2025 |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 2 | Mar 5, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Feb 27, 2025 |
| Cationic Amino Acid Transporter 2 Deficiency | 1 | May 28, 2025 |
| Central core myopathy | 1 | Aug 6, 2024 |
| Cerebellar ataxia | 1 | Mar 27, 2018 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 1 | Aug 18, 2022 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | May 22, 2019 |
| Cerebellar atrophy | 1 | Mar 27, 2018 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | May 20, 2020 |
| Charcot-Marie-Tooth disease axonal type 2S | 2 | May 29, 2019 |
| Charcot-Marie-Tooth disease axonal type 2T | 1 | May 20, 2020 |
| Charcot-Marie-Tooth disease type 4C | 1 | Mar 6, 2026 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Aug 18, 2022 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | Apr 12, 2023 |
| Charcot-Marie-Tooth disease, type IA | 1 | Nov 27, 2018 |
| Chromosome 15q11.2 deletion syndrome | 1 | Aug 6, 2024 |
| Chromosome Xq28 duplication syndrome | 1 | Aug 28, 2025 |
| Coffin-Lowry syndrome | 2 | Aug 6, 2024 |
| Coffin-Siris syndrome 1 | 2 | Jul 17, 2018 |
| Coffin-Siris syndrome 10 | 1 | Sep 2, 2021 |
| Cohen-Gibson syndrome | 1 | Jul 17, 2018 |
| Combined deficiency of sialidase AND beta galactosidase | 2 | Jun 8, 2020 |
| Combined oxidative phosphorylation defect type 20 | 3 | Jan 19, 2024 |
| Combined oxidative phosphorylation defect type 21 | 2 | Aug 6, 2024 |
| Combined oxidative phosphorylation deficiency 32 | 1 | Jun 6, 2023 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Jul 17, 2018 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | May 28, 2021 |
| Congenital disorder of deglycosylation 1 | 2 | Aug 6, 2024 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 2 | May 22, 2019 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 2 | Jan 19, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | May 22, 2019 |
| Congenital heart defects, multiple types, 4 | 1 | Nov 27, 2018 |
| Congenital malabsorptive diarrhea 4 | 2 | Jan 4, 2023 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | May 20, 2020 |
| Congenital myasthenic syndrome 11 | 2 | Aug 6, 2024 |
| Congenital myasthenic syndrome 5 | 2 | May 20, 2020 |
| Congenital myasthenic syndrome 8 | 2 | Apr 5, 2024 |
| Congenital myopathy 4A, autosomal dominant | 1 | Aug 28, 2025 |
| Congenital myopathy with fiber type disproportion | 3 | May 22, 2019 |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 2 | Feb 27, 2025 |
| Congenital titinopathy | 2 | Aug 24, 2020 |
| Cornelia de Lange syndrome 5 | 1 | Jul 17, 2018 |
| Cowden syndrome 1 | 1 | Dec 6, 2024 |
| Craniolenticulosutural dysplasia | 1 | Aug 6, 2024 |
| Curry-Jones syndrome | 1 | May 22, 2019 |
| Cystic fibrosis | 5 | May 26, 2022 |
| DAGLA-related disorder | 1 | Jun 6, 2023 |
| DENND5B related condition | 1 | Aug 6, 2024 |
| DHX9-related disorder | 1 | Jun 6, 2023 |
| DNM1L-related movement disorder | 1 | Sep 2, 2021 |
| DOHH-related disorder | 1 | Apr 12, 2023 |
| DONSON-related Meier-Gorlin syndrome | 2 | Mar 3, 2021 |
| DOT1L-related condition | 1 | Aug 6, 2024 |
| DROSHA-related neurodevelopmental disorder | 1 | Sep 17, 2019 |
| DSP-related arrhythmogenic cardiomyopathy | 1 | Sep 17, 2019 |
| DYRK1A-related intellectual disability syndrome | 1 | Nov 27, 2018 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Jul 17, 2018 |
| Deafness-infertility syndrome | 1 | Nov 27, 2018 |
| Decreased activity of mitochondrial ATP synthase complex | 1 | Mar 27, 2018 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Feb 21, 2019 |
| Dermatitis, atopic, 2 | 1 | May 20, 2020 |
| Desmin-related myofibrillar myopathy | 1 | Mar 27, 2018 |
| Developmental and epileptic encephalopathy 104 | 1 | Jan 19, 2024 |
| Developmental and epileptic encephalopathy 110 | 2 | Aug 28, 2025 |
| Developmental and epileptic encephalopathy 116 | 1 | Aug 28, 2025 |
| Developmental and epileptic encephalopathy 119 | 1 | Mar 6, 2026 |
| Developmental and epileptic encephalopathy 91 | 1 | Mar 27, 2018 |
| Developmental and epileptic encephalopathy 92 | 1 | Jul 17, 2018 |
| Developmental and epileptic encephalopathy 93 | 1 | Jul 17, 2018 |
| Developmental and epileptic encephalopathy 96 | 1 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 13 | 1 | Feb 21, 2019 |
| Developmental and epileptic encephalopathy, 2 | 5 | Dec 6, 2024 |
| Developmental and epileptic encephalopathy, 27 | 1 | May 28, 2025 |
| Developmental and epileptic encephalopathy, 28 | 4 | Jan 4, 2023 |
| Developmental and epileptic encephalopathy, 31A | 1 | Mar 3, 2021 |
| Developmental and epileptic encephalopathy, 32 | 1 | Sep 2, 2021 |
| Developmental and epileptic encephalopathy, 33 | 1 | Mar 27, 2018 |
| Developmental and epileptic encephalopathy, 35 | 1 | Sep 17, 2019 |
| Developmental and epileptic encephalopathy, 36 | 1 | Mar 27, 2018 |
| Developmental and epileptic encephalopathy, 38 | 1 | Mar 27, 2018 |
| Developmental and epileptic encephalopathy, 4 | 2 | Feb 13, 2020 |
| Developmental and epileptic encephalopathy, 42 | 1 | Aug 6, 2024 |
| Developmental and epileptic encephalopathy, 44 | 4 | Jul 20, 2021 |
| Developmental and epileptic encephalopathy, 47 | 1 | Mar 27, 2018 |
| Developmental and epileptic encephalopathy, 58 | 1 | Sep 17, 2019 |
| Developmental and epileptic encephalopathy, 64 | 2 | Dec 6, 2024 |
| Developmental and epileptic encephalopathy, 69 | 2 | May 20, 2020 |
| Developmental and epileptic encephalopathy, 72 | 1 | Dec 3, 2021 |
| Developmental and epileptic encephalopathy, 73 | 1 | Jan 4, 2023 |
| Developmental and epileptic encephalopathy, 74 | 1 | May 22, 2019 |
| Developmental and epileptic encephalopathy, 8 | 1 | Sep 17, 2019 |
| Developmental and epileptic encephalopathy, 83 | 1 | Sep 2, 2021 |
| Developmental delay with dysmorphic facies and dental anomalies | 1 | May 28, 2025 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | 1 | Jan 19, 2024 |
| Developmental delay, dysmorphic facies, and brain anomalies | 1 | Nov 21, 2025 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Sep 2, 2021 |
| Diamond-Blackfan anemia 1 | 1 | Dec 6, 2024 |
| Diamond-Blackfan anemia 5 | 1 | Aug 28, 2025 |
| Diaphyseal dysplasia | 1 | May 28, 2021 |
| Diarrhea | 2 | Aug 24, 2020 |
| Diarrhea 11, malabsorptive, congenital | 1 | Nov 21, 2025 |
| Disabling pansclerotic morphea of childhood | 1 | Mar 6, 2026 |
| Distal myopathy | 1 | Jul 17, 2018 |
| Duchenne muscular dystrophy | 1 | May 22, 2019 |
| Dworschak-Punetha neurodevelopmental syndrome | 2 | May 28, 2025 |
| Dystonia 28, childhood-onset | 4 | May 28, 2021 |
| Dystonia 5 | 1 | Mar 27, 2018 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 | Mar 27, 2018 |
| EFEMP1-related connective tissue condition | 1 | Dec 6, 2024 |
| EHMT2-related Kleefstra-like syndrome | 1 | Mar 6, 2026 |
| EIF2AK1-related disorder | 1 | Sep 17, 2019 |
| EIF2AK2-related disorder | 2 | Sep 17, 2019 |
| ELFN1-related disorder | 1 | Aug 24, 2020 |
| EVI5-related disorder | 1 | Mar 27, 2018 |
| EZH1-related disorder | 1 | Apr 19, 2024 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 | Dec 6, 2024 |
| Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | 1 | Apr 5, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 2 | Dec 6, 2024 |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 | Mar 6, 2026 |
| Eichsfeld type congenital muscular dystrophy | 3 | May 22, 2019 |
| Encephalopathy due to GLUT1 deficiency | 1 | Aug 6, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Aug 6, 2024 |
| FAM177A1-related disorder | 2 | Apr 23, 2020 |
| FBN2-related disorder | 1 | Jan 19, 2024 |
| FLNA-related disorder | 1 | Feb 23, 2022 |
| FOXG1 disorder | 2 | May 28, 2021 |
| Familial cancer of breast | 1 | Feb 23, 2022 |
| Familial cold autoinflammatory syndrome 1 | 1 | Mar 27, 2018 |
| Familial cold autoinflammatory syndrome 2 | 3 | Apr 12, 2023 |
| Fanconi anemia complementation group D2 | 2 | Mar 5, 2025 |
| Fanconi anemia complementation group R | 1 | Mar 27, 2018 |
| Floating-Harbor syndrome | 1 | Mar 27, 2018 |
| Follicular atrophoderma and basal cell epitheliomata | 1 | Aug 28, 2025 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 2 | May 20, 2020 |
| GABRA3-related disorder | 1 | Dec 3, 2021 |
| GABRA4-related developmental and epileptic encephalopathy | 1 | Dec 6, 2024 |
| GDF11-associated multiple congenital anomalies and ID | 1 | Mar 27, 2018 |
| GET4-related disorder | 1 | Dec 3, 2021 |
| GLYR1-related disorder | 2 | Mar 27, 2018 |
| GNB2-related disorder | 1 | Sep 16, 2024 |
| GP130-deficient hyper-IgE syndrome | 2 | Feb 21, 2019 |
| GTF2I related condition | 1 | Aug 6, 2024 |
| Galloway-Mowat syndrome 1 | 1 | Sep 17, 2019 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Sep 23, 2019 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Nov 27, 2018 |
| Gillespie syndrome | 1 | May 20, 2020 |
| Glaucoma 3, primary congenital, E | 1 | Sep 17, 2019 |
| Global developmental delay, progressive ataxia, and elevated glutamine | 1 | Mar 6, 2026 |
| Glutamine related condition | 1 | Dec 3, 2021 |
| Glycogen storage disease XV | 2 | Apr 23, 2020 |
| Gorlin syndrome | 2 | Dec 3, 2021 |
| H3F3A-related disorder | 1 | Jul 17, 2018 |
| HARS1-related ataxia condition | 2 | Mar 6, 2026 |
| HARS1-related multi-system ataxia syndrome | 2 | Mar 6, 2026 |
| HNRNPA1-related multisystem proteinopathy | 1 | Apr 23, 2020 |
| Hatipoglu immunodeficiency syndrome | 2 | Aug 6, 2024 |
| Hearing impairment | 2 | Aug 24, 2020 |
| Hemifacial myohyperplasia | 1 | Mar 6, 2026 |
| Hemolytic anemia due to hexokinase deficiency | 1 | Nov 21, 2025 |
| Hereditary diffuse gastric adenocarcinoma | 1 | May 26, 2022 |
| Hereditary liability to pressure palsies | 1 | Jul 17, 2018 |
| Hereditary pancreatitis | 1 | May 28, 2021 |
| Hereditary spastic paraplegia 11 | 2 | Mar 27, 2018 |
| Hereditary spastic paraplegia 12 | 1 | Dec 6, 2024 |
| Hereditary spastic paraplegia 35 | 1 | Jul 17, 2018 |
| Hereditary spastic paraplegia 48 | 2 | Mar 5, 2025 |
| Hereditary spastic paraplegia 50 | 1 | Apr 23, 2020 |
| Hereditary spastic paraplegia 7 | 2 | Nov 27, 2018 |
| Hereditary spastic paraplegia 9A | 1 | Jul 17, 2018 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 1 | Aug 6, 2024 |
| Houge-Janssens syndrome 2 | 1 | Apr 12, 2023 |
| Houge-Janssens syndrome 4 | 1 | Apr 6, 2026 |
| Hyaline fibromatosis syndrome | 1 | Mar 27, 2018 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | May 20, 2020 |
| Hyperimmunoglobulin D with periodic fever | 1 | May 28, 2021 |
| Hypokalemic periodic paralysis, type 2 | 1 | Apr 23, 2020 |
| Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | 1 | Apr 5, 2024 |
| Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial | 1 | Apr 12, 2023 |
| Hypomyelinating leukodystrophy 6 | 2 | Dec 4, 2020 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 4 | Apr 12, 2023 |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 1 | Jan 19, 2024 |
| Hypotonia, ataxia, and delayed development syndrome | 2 | Jan 19, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2 | Apr 23, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 | Aug 4, 2017 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 7 | Aug 24, 2020 |
| IFIH1-related immunodeficiency | 2 | Aug 24, 2020 |
| IMPDH2-related neurodevelopmental condition | 1 | Dec 6, 2024 |
| IQGAP1-associated immune condition | 1 | Sep 13, 2022 |
| IRF2BPL-related disorder | 5 | May 29, 2019 |
| Ichthyosis vulgaris | 2 | Apr 23, 2020 |
| Idiopathic basal ganglia calcification 1 | 4 | Feb 21, 2019 |
| Immunodeficiency 33 | 1 | Apr 5, 2024 |
| Immunodeficiency 67 | 2 | Mar 3, 2021 |
| Immunodeficiency 84 | 1 | Apr 5, 2024 |
| Immunodeficiency, common variable, 10 | 1 | Aug 24, 2020 |
| Inclusion body myopathy and brain white matter abnormalities | 1 | Apr 5, 2024 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Aug 6, 2024 |
| Increased susceptibility to fractures | 2 | Aug 24, 2020 |
| Infantile liver failure syndrome 2 | 2 | Aug 18, 2022 |
| Infantile liver failure syndrome 3 | 2 | Dec 3, 2021 |
| Infantile neuroaxonal dystrophy | 4 | Apr 12, 2023 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 2 | Sep 17, 2019 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Feb 27, 2025 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Aug 28, 2025 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Mar 3, 2021 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Jan 4, 2023 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 1 | May 26, 2022 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 | Nov 27, 2018 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Feb 21, 2019 |
| Intellectual developmental disorder, X-linked, syndromic 37 | 2 | Mar 6, 2026 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | Apr 5, 2024 |
| Intellectual developmental disorder, autosomal recessive 67 | 2 | Aug 6, 2024 |
| Intellectual disability | 1 | Mar 27, 2018 |
| Intellectual disability, X-linked 102 | 2 | Mar 3, 2021 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 2 | Nov 21, 2025 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Nov 27, 2018 |
| Intellectual disability, autosomal dominant 1 | 1 | Jan 4, 2023 |
| Intellectual disability, autosomal dominant 13 | 2 | Aug 18, 2022 |
| Intellectual disability, autosomal dominant 5 | 2 | Apr 23, 2020 |
| Intellectual disability, autosomal dominant 54 | 2 | Jan 19, 2024 |
| Intellectual disability, autosomal dominant 56 | 2 | May 20, 2020 |
| Intellectual disability, autosomal dominant 58 | 2 | May 26, 2022 |
| Intellectual disability, autosomal dominant 6 | 1 | May 22, 2019 |
| Intellectual disability, autosomal dominant 9 | 1 | Apr 5, 2024 |
| Intellectual disability, autosomal recessive 57 | 2 | Aug 6, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Dec 3, 2021 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2 | Feb 24, 2025 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | May 28, 2021 |
| Isolated focal cortical dysplasia type II | 1 | Sep 17, 2019 |
| Joubert syndrome 30 | 2 | Feb 21, 2019 |
| KARS1-related disorder | 1 | May 28, 2021 |
| KAT6B-related disorder | 1 | Aug 6, 2024 |
| KCNC2-related disorder | 1 | May 28, 2021 |
| KDM2A related condition | 1 | Aug 6, 2024 |
| KDR-related disorder | 1 | Jan 19, 2024 |
| KIF21A-related disorder | 1 | Apr 12, 2023 |
| KIF5B-related osteogenesis imperfecta syndrome | 1 | Sep 21, 2023 |
| KLF7-related disorder | 1 | Apr 23, 2020 |
| KMO-related congenital malformation syndrome | 2 | Oct 24, 2025 |
| KMT2C-related disorder | 1 | Sep 17, 2019 |
| KPNA4-related condition | 1 | Aug 6, 2024 |
| KRAS-related RASopathy | 1 | Dec 4, 2020 |
| Kabuki syndrome 1 | 1 | May 26, 2022 |
| Kilquist syndrome | 1 | May 22, 2019 |
| Kleefstra syndrome 1 | 2 | Dec 4, 2020 |
| Kleefstra syndrome 2 | 2 | Sep 2, 2021 |
| Kleine-Levin syndrome | 7 | Jan 4, 2023 |
| Koolen-de Vries syndrome | 1 | Aug 24, 2020 |
| Kufor-Rakeb syndrome | 2 | Aug 24, 2020 |
| Kugelberg-Welander disease | 1 | May 22, 2019 |
| Kury-Isidor syndrome | 1 | Aug 28, 2025 |
| LAMP3-related disorder | 1 | Aug 28, 2025 |
| LMNA-associated condition | 1 | Jul 31, 2019 |
| LONP1-related disorder | 1 | Feb 21, 2019 |
| Lamb-Shaffer syndrome | 1 | Aug 18, 2022 |
| Lambdoidal craniosynostosis | 1 | Dec 6, 2024 |
| Landau-Kleffner syndrome | 1 | Mar 27, 2018 |
| Leber congenital amaurosis with early-onset deafness | 1 | Nov 6, 2025 |
| Lesch-Nyhan syndrome | 1 | Feb 27, 2025 |
| Lethal congenital contracture syndrome 7 | 1 | Mar 27, 2018 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 4 | Jul 17, 2018 |
| Lethal tight skin contracture syndrome | 1 | May 29, 2019 |
| Leukodystrophy, hypomyelinating, 18 | 2 | Feb 27, 2025 |
| Leukodystrophy, hypomyelinating, 26, with chondrodysplasia | 2 | Nov 21, 2025 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 6 | Feb 27, 2025 |
| Leukoencephalopathy with calcifications and cysts | 4 | Jun 8, 2020 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 1 | Mar 6, 2026 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Sep 2, 2021 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2 | May 28, 2021 |
| Lowry-Wood syndrome | 2 | Apr 12, 2023 |
| MADD-related disorder | 2 | Aug 24, 2020 |
| MAP2K1-related rasopathy-like syndrome | 1 | Feb 19, 2026 |
| MAP3K20-related disorder | 1 | Dec 3, 2021 |
| MAPK8IP3-related disorder | 1 | Nov 27, 2018 |
| MAST3-related disorder | 1 | May 28, 2021 |
| MBTPS2-related disorder | 1 | May 28, 2025 |
| MED12-Related Disorders | 1 | Sep 16, 2024 |
| MEHMO syndrome | 1 | Dec 6, 2024 |
| MELAS syndrome | 2 | Dec 6, 2024 |
| MERRF syndrome | 1 | Aug 24, 2020 |
| MIR145-related multisystemic smooth muscle dysfunction | 1 | Aug 18, 2022 |
| MIRAGE syndrome | 1 | Apr 5, 2024 |
| MORC2-related developmental disorder | 1 | Sep 17, 2019 |
| MPEG1-related immunodeficiency | 1 | Aug 24, 2020 |
| MPV17-related mitochondrial DNA maintenance defect | 2 | Nov 27, 2018 |
| MRTFB-related disorder | 2 | Dec 6, 2024 |
| MT-TH-related condition | 1 | Aug 6, 2024 |
| MT-TK-related disorder | 1 | Jan 19, 2024 |
| MT-TQ-related myopathy | 1 | Dec 6, 2024 |
| MTOR-related megalencephaly and pigmentary mosaicism in skin | 1 | May 29, 2019 |
| MTSS2-related neurodevelopmental disorder | 1 | May 20, 2020 |
| MYBPC1-related disorder | 1 | Mar 27, 2018 |
| MYCBP2-related disorder | 1 | Jun 6, 2023 |
| MYCBP2-related neurodevelopmental condition | 1 | Mar 6, 2026 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2 | Dec 6, 2024 |
| Malan overgrowth syndrome | 1 | Jun 6, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Mar 27, 2018 |
| Marfan syndrome | 3 | Mar 5, 2025 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Jan 19, 2024 |
| Megaconial type congenital muscular dystrophy | 2 | May 20, 2020 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 2 | Apr 5, 2024 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Sep 17, 2019 |
| Meier-Gorlin syndrome 7 | 2 | Apr 5, 2024 |
| Menkes kinky-hair syndrome | 1 | Apr 23, 2020 |
| Merosin deficient congenital muscular dystrophy | 2 | Aug 6, 2024 |
| Metaphyseal chondrodysplasia, McKusick type | 2 | Sep 2, 2021 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | May 26, 2022 |
| Microcephalic primordial dwarfism, Alazami type | 2 | Aug 18, 2022 |
| Microcephaly 17, primary, autosomal recessive | 2 | Feb 21, 2019 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 | Jul 17, 2018 |
| Migraine, familial hemiplegic, 2 | 1 | Mar 5, 2025 |
| Mitchell syndrome | 1 | Sep 2, 2021 |
| Mitochondrial DNA depletion syndrome | 2 | Jan 22, 2018 |
| Mitochondrial DNA depletion syndrome 20 (mngie type) | 2 | Feb 27, 2025 |
| Mitochondrial complex I deficiency, nuclear type 21 | 6 | May 28, 2025 |
| Mitochondrial complex I deficiency, nuclear type 34 | 2 | May 26, 2022 |
| Mitochondrial complex II deficiency, nuclear type 1 | 2 | Jan 4, 2023 |
| Mitochondrial complex III deficiency, nuclear type 10 | 1 | Jan 4, 2023 |
| Mitochondrial complex IV deficiency, nuclear type 11 | 2 | May 28, 2021 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | 1 | Aug 6, 2024 |
| Mitochondrial disease | 1 | May 22, 2019 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 2 | Mar 27, 2018 |
| Mitochondrial trifunctional protein deficiency 2 | 2 | Aug 6, 2024 |
| Monocytopenia with susceptibility to infections | 1 | Feb 21, 2019 |
| Morimoto-Ryu-Malicdan neuromuscular syndrome | 4 | Nov 21, 2025 |
| Mosaic KRAS-related syndrome | 1 | Mar 6, 2026 |
| Mowat-Wilson syndrome | 1 | Feb 27, 2025 |
| Mucopolysaccharidosis, MPS-III-A | 2 | Aug 24, 2020 |
| Mucopolysaccharidosis, MPS-III-B | 2 | Mar 27, 2018 |
| Mucopolysaccharidosis, MPS-III-C | 4 | Jun 8, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 | Apr 12, 2023 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | May 28, 2021 |
| Multiple epiphyseal dysplasia type 4 | 1 | Nov 21, 2025 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 2 | Dec 6, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 2 | Aug 6, 2024 |
| Muscular dystrophy-dystroglycanopathy type B6 | 1 | Aug 6, 2024 |
| Myeloperoxidase deficiency | 2 | Jan 19, 2024 |
| Myoclonic dystonia 11 | 1 | May 28, 2025 |
| Myofibrillar myopathy 8 | 1 | Mar 27, 2018 |
| Myopathy | 2 | Aug 4, 2017 |
| Myopathy, distal, 5 | 1 | Jul 17, 2018 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Feb 21, 2019 |
| NARP syndrome | 1 | Apr 5, 2024 |
| NAV2-related neurodevelopmental condition | 2 | May 26, 2022 |
| NBEA-related developmental delay and generalized epilepsy | 1 | Feb 21, 2019 |
| NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) | 1 | Mar 4, 2021 |
| NOTCH1-related disorder | 1 | Jan 19, 2024 |
| NSD2-related disorder | 1 | Jul 30, 2019 |
| NUDT2-associated condition | 1 | Jul 31, 2019 |
| NUS1-related epilepsy-myoclonus-ataxia syndrome | 1 | Mar 5, 2025 |
| Nephronophthisis 1 | 1 | Aug 4, 2017 |
| Nephronophthisis-like nephropathy 1 | 2 | Apr 5, 2024 |
| Nephropathic cystinosis | 2 | Apr 23, 2020 |
| Nephropathy, chronic tubulointerstitial | 1 | Aug 18, 2022 |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | 1 | May 28, 2021 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 1 | Aug 24, 2020 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 2 | Mar 3, 2021 |
| Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | 1 | Nov 21, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Nov 21, 2025 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 2 | Aug 6, 2024 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | May 20, 2020 |
| Neurodevelopmental disorder with hearing loss and spasticity | 2 | Jan 19, 2024 |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | 1 | Jan 19, 2024 |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 1 | Mar 3, 2021 |
| Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | 1 | Aug 28, 2025 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 5 | Mar 6, 2026 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Mar 27, 2018 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 2 | Mar 6, 2026 |
| Neurodevelopmental disorder with involuntary movements | 1 | May 29, 2019 |
| Neurodevelopmental disorder with microcephaly and movement abnormalities | 2 | Jan 19, 2024 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 2 | Feb 27, 2025 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 2 | Aug 28, 2025 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 2 | May 22, 2019 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Aug 24, 2020 |
| Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | 3 | Apr 5, 2024 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 1 | Jun 6, 2023 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Jan 19, 2024 |
| Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | 2 | Aug 6, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | May 29, 2019 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Mar 3, 2021 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 2 | Aug 6, 2024 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 2 | Jan 19, 2024 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 1 | May 20, 2020 |
| Neurofibromatosis, type 1 | 1 | Aug 24, 2020 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Mar 6, 2026 |
| Neurooculocardiogenitourinary syndrome | 1 | Mar 3, 2021 |
| Neuropathy, congenital hypomyelinating, 2 | 1 | Dec 6, 2024 |
| Niemann-Pick disease, type C1 | 1 | Dec 3, 2021 |
| Nizon-Isidor syndrome | 1 | Jan 19, 2024 |
| Noonan syndrome 1 | 1 | Mar 27, 2018 |
| Noonan syndrome 12 | 1 | Jan 19, 2024 |
| Noonan syndrome 2 | 2 | May 22, 2019 |
| ORC3-related disorder | 2 | Apr 5, 2024 |
| Oculocutaneous albinism type 1A | 2 | Nov 21, 2025 |
| Oculocutaneous albinism type 8 | 2 | Mar 6, 2026 |
| Oculogastrointestinal-neurodevelopmental syndrome | 1 | Jan 4, 2023 |
| Odontochondrodysplasia 1 | 2 | May 22, 2019 |
| Osteodysplastic primordial dwarfism, type 1 | 2 | Apr 12, 2023 |
| Osteogenesis imperfecta type I | 1 | May 28, 2021 |
| Osteopathia striata with cranial sclerosis | 1 | Feb 21, 2019 |
| PAPSS1-related disorder | 2 | Jun 6, 2023 |
| PHACTR1-related neurodevelopmental condition | 1 | May 26, 2022 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Apr 23, 2020 |
| PIGQ-related disorder | 2 | Feb 21, 2019 |
| PIP5K1C-related neurodevelopmental disorder | 2 | Apr 19, 2024 |
| PLCG1-related disorder | 1 | Nov 21, 2025 |
| PMM2-congenital disorder of glycosylation | 1 | Aug 28, 2025 |
| POLG-related disorder | 1 | Nov 27, 2018 |
| POLR3H-related condition | 1 | Nov 21, 2025 |
| PPFIA3-related disorder | 1 | Jan 19, 2024 |
| PPP5C-related disorder | 1 | Jan 19, 2024 |
| PPRC1-related conditon | 2 | Dec 6, 2024 |
| PRDM16-related congenital heart disease | 1 | Jan 19, 2024 |
| PRELP-related osteosclerosis | 1 | Jul 17, 2018 |
| PRKAR1B-related neurodevelopmental disorder | 1 | May 28, 2021 |
| PRNP-associated condition | 1 | Jul 31, 2019 |
| PSMB8-related dominant condition | 1 | Nov 21, 2025 |
| PSMC5-related neurodevelopmental condition | 1 | Mar 6, 2026 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2 | Apr 23, 2020 |
| Parkinsonism-dystonia 3, childhood-onset | 2 | May 26, 2022 |
| Peroxisomal disorder | 1 | May 22, 2019 |
| Peroxisome biogenesis disorder 14B | 2 | Aug 4, 2017 |
| Peroxisome biogenesis disorder 4B | 2 | Nov 27, 2018 |
| Perrault syndrome 3 | 2 | Apr 5, 2024 |
| Phenylketonuria | 2 | Apr 12, 2023 |
| Pheochromocytoma/paraganglioma syndrome 1 | 1 | Feb 18, 2020 |
| Pierpont syndrome | 1 | Aug 6, 2024 |
| Pitt-Hopkins syndrome | 1 | Aug 24, 2020 |
| Polycystic kidney disease, adult type | 1 | Jul 17, 2018 |
| Polyglandular autoimmune syndrome, type 1 | 1 | Apr 5, 2024 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 3 | Nov 21, 2025 |
| Pontocerebellar hypoplasia type 2D | 2 | Mar 27, 2018 |
| Pontocerebellar hypoplasia type 6 | 2 | Mar 27, 2018 |
| Pontocerebellar hypoplasia, type 13 | 1 | Apr 19, 2024 |
| Predisposition to dissection | 2 | May 22, 2019 |
| Primary ciliary dyskinesia 7 | 4 | Apr 5, 2024 |
| Primary erythromelalgia | 1 | Aug 6, 2024 |
| Primary progressive multiple sclerosis | 2 | Jan 22, 2018 |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 1 | Mar 27, 2018 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 2 | Feb 21, 2019 |
| Progressive myoclonic epilepsy type 3 | 2 | Mar 27, 2018 |
| Progressive myoclonic epilepsy type 7 | 1 | Jul 17, 2018 |
| Progressive myositis ossificans | 1 | May 28, 2021 |
| Progressive sclerosing poliodystrophy | 2 | Jul 17, 2018 |
| Proteasome-associated autoinflammatory syndrome 2 | 1 | May 22, 2019 |
| Pseudohypoparathyroidism | 1 | Feb 21, 2019 |
| Pseudohypoparathyroidism type 1B | 1 | Aug 24, 2020 |
| Pseudopseudohypoparathyroidism | 1 | Jul 17, 2018 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Apr 5, 2024 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Jan 4, 2023 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Jan 4, 2023 |
| Pyruvate dehydrogenase E2 deficiency | 1 | Apr 5, 2024 |
| RAB11A-associated neurodevelopmental condition | 1 | Dec 6, 2024 |
| RAB3A-related condition | 1 | Aug 6, 2024 |
| RAB5B-associated surfactant dysfunction disorder | 1 | Feb 23, 2022 |
| RAB5C-related disorder | 2 | Mar 6, 2026 |
| RBBP5-related syndromic neurodevelopmental condition | 1 | Dec 6, 2024 |
| RNF2-associated neurodevelopmental condition | 1 | Dec 4, 2020 |
| RNH1-related disorder | 2 | Dec 14, 2020 |
| RNU2-2 related neurodevelopmental disorder | 6 | Mar 6, 2026 |
| RNU2-2 related neurodevelopmental disorder, autosomal recessive | 2 | Nov 21, 2025 |
| RNU6ATAC spectrum disorder | 4 | Jan 9, 2026 |
| RPA1-related short telomere syndrome | 1 | Dec 3, 2021 |
| RRAGD-related disorder | 1 | Apr 12, 2023 |
| RSF1-related condition | 1 | Mar 6, 2026 |
| RYBP-related condition | 2 | May 28, 2025 |
| RYR1-related disorder | 4 | Aug 6, 2024 |
| Radio-Tartaglia syndrome | 1 | Jan 4, 2023 |
| Rauch-Steindl syndrome | 1 | Jan 19, 2024 |
| Recessive dystrophic epidermolysis bullosa | 2 | Mar 27, 2018 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 2 | Aug 4, 2017 |
| Renpenning syndrome | 1 | May 20, 2020 |
| Retinal dystrophy and obesity | 2 | Sep 17, 2019 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | 1 | Apr 23, 2020 |
| Rett syndrome | 6 | Mar 6, 2026 |
| Roifman syndrome | 7 | Aug 6, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | May 28, 2021 |
| SAMD9L-associated autoinflammatory syndrome | 1 | Nov 21, 2025 |
| SARS2-associated condition | 2 | Jul 30, 2019 |
| SCN2A-related disorder | 1 | Mar 27, 2018 |
| SCNN1G-related disorder | 1 | Aug 6, 2024 |
| SEPHS1-related disorder | 1 | Apr 5, 2024 |
| SLC25A42-related mitochondrial encephalomyopathy | 1 | Nov 27, 2018 |
| SLC25A46-associated optic atrophy spectrum disorder | 2 | May 22, 2019 |
| SLC35A2-congenital disorder of glycosylation | 1 | Oct 24, 2019 |
| SLC6A1-related neurodevelopmental condition | 1 | Dec 6, 2024 |
| SMARCC2-related disorder | 1 | May 29, 2019 |
| SNAPC4 related condition | 2 | Aug 6, 2024 |
| SNUPN deficiency muscular dystrophy | 1 | Dec 6, 2024 |
| SPOP-related disorder | 1 | Aug 24, 2020 |
| SPOP-related neurodevelopmental condition | 1 | Dec 3, 2021 |
| SPTBN1-related disorder | 1 | May 28, 2021 |
| SPTBN1-related neurodevelopmental disease | 1 | Feb 21, 2019 |
| SREBF2-related disorder | 1 | Apr 12, 2023 |
| SRRT-related condition | 1 | May 28, 2025 |
| SSR4-congenital disorder of glycosylation | 1 | Jan 4, 2023 |
| STAG2-related disorder | 1 | Feb 23, 2022 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Apr 5, 2024 |
| SUPT5H-related condition | 1 | Aug 6, 2024 |
| Schaaf-Yang syndrome | 2 | Nov 21, 2025 |
| Scoliosis | 1 | May 22, 2019 |
| Senior-Loken syndrome 5 | 2 | Mar 27, 2018 |
| Senior-loken syndrome 3 | 1 | Aug 4, 2017 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 1 | May 20, 2020 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | May 22, 2019 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | May 22, 2019 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 27, 2018 |
| Shashi-Pena syndrome | 1 | Aug 4, 2017 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | May 28, 2021 |
| Short stature-optic atrophy-Pelger-Huët anomaly syndrome | 2 | Aug 6, 2024 |
| Shwachman-Diamond syndrome 2 | 3 | May 29, 2019 |
| Sialic acid storage disease, severe infantile type | 2 | Apr 5, 2024 |
| Siddiqi syndrome | 2 | Jan 19, 2024 |
| Skraban-Deardorff syndrome | 1 | Apr 5, 2024 |
| Smith-Magenis syndrome | 1 | Mar 27, 2018 |
| Snijders Blok-Campeau syndrome | 1 | Jan 19, 2024 |
| Spastic ataxia 5 | 2 | Jan 4, 2023 |
| Spastic paraplegia 79A, autosomal dominant, with ataxia | 1 | Apr 5, 2024 |
| Spastic paraplegia 80, autosomal dominant | 1 | Jan 6, 2025 |
| Spastic paraplegia 84, autosomal recessive | 2 | Mar 5, 2025 |
| Spastic paraplegia 90A, autosomal dominant | 1 | Apr 23, 2025 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 1 | Feb 27, 2025 |
| Spinocerebellar ataxia type 25 | 1 | Aug 28, 2025 |
| Spinocerebellar ataxia type 28 | 1 | Mar 27, 2018 |
| Spinocerebellar ataxia type 5 | 1 | Sep 17, 2019 |
| Spinocerebellar ataxia, autosomal recessive 24 | 2 | Apr 30, 2020 |
| Spinocerebellar ataxia, autosomal recessive 27 | 1 | Mar 6, 2026 |
| Spinocerebellar ataxia, autosomal recessive 32 | 2 | Aug 6, 2024 |
| Spinocerebellar ataxia, autosomal recessive 33 | 2 | Nov 21, 2025 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 | May 30, 2025 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 2 | Mar 6, 2026 |
| Spongiform encephalopathy with neuropsychiatric features | 2 | Aug 4, 2017 |
| Stankiewicz-Isidor syndrome | 1 | May 22, 2019 |
| Stickler syndrome type 1 | 2 | Dec 4, 2020 |
| Stormorken syndrome | 1 | Mar 27, 2018 |
| Sturge-Weber syndrome | 1 | Mar 27, 2018 |
| Syndromic X-linked intellectual disability Najm type | 1 | Mar 6, 2026 |
| Systemic lupus erythematosus | 1 | Jan 22, 2018 |
| T-LGL Leukemia | 1 | Mar 6, 2026 |
| TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy | 2 | Nov 27, 2018 |
| TBX2-related disorder | 1 | May 29, 2019 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Nov 21, 2025 |
| TMEM161B-related lissencephaly | 2 | Jun 6, 2023 |
| TMEM208-related condition | 2 | Mar 6, 2026 |
| TMEM63B-related condition | 1 | May 28, 2025 |
| TMEM94-related disorder | 2 | May 29, 2019 |
| TNPO2-related disorder | 1 | Feb 23, 2022 |
| TNXB-related hypermobile Ehlers-Danlos syndrome | 1 | Feb 23, 2022 |
| TOMM70-related neurodevelopmental disorder | 1 | Apr 23, 2020 |
| TONSL-related disorder | 4 | May 22, 2019 |
| TRA2B-related condition | 1 | Aug 28, 2025 |
| TRAF3-related disorder | 1 | Aug 6, 2024 |
| TRIM8-related epileptic encephalopathy | 1 | Jul 17, 2018 |
| TRIP12 associated autism with facial dysmorphology | 1 | Mar 27, 2018 |
| TSPEAR-related disorder of tooth and hair follicle morphogenesis | 2 | Jul 17, 2018 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Jan 22, 2018 |
| Tessadori-Van Haaften neurodevelopmental syndrome 3 | 2 | Aug 6, 2024 |
| Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | 1 | May 28, 2025 |
| Thrombophilia due to activated protein C resistance | 1 | Sep 16, 2020 |
| Tooth agenesis, selective, 4 | 1 | May 28, 2021 |
| Tooth agenesis, selective, 7 | 1 | Feb 23, 2022 |
| Type 1 interferonopathy | 1 | Aug 28, 2025 |
| UBR5-associated neurodevelopmental condition | 1 | May 28, 2025 |
| UNC45A-associated Cholestasis | 2 | Aug 24, 2020 |
| UNC93B1-related disorder | 1 | Aug 6, 2024 |
| USP7-related disorder | 1 | May 29, 2019 |
| USP9X-related intellectual developmental disorder | 1 | May 28, 2025 |
| UTP20-related condition | 2 | Mar 6, 2026 |
| VEXAS syndrome | 1 | Apr 12, 2023 |
| Van Maldergem syndrome 2 | 2 | Mar 27, 2018 |
| Vertebral hypersegmentation and orofacial anomalies | 1 | Feb 23, 2022 |
| Ververi-Brady syndrome | 1 | Jul 17, 2018 |
| Vici syndrome | 1 | Sep 2, 2021 |
| WARS2-related disorder | 2 | Aug 6, 2024 |
| WDR44-related ciliopathy | 1 | Nov 21, 2025 |
| WHSC1-related disorder | 1 | May 22, 2019 |
| Wieacker-Wolff syndrome | 2 | May 20, 2020 |
| Wieacker-Wolff syndrome, female-restricted | 1 | Aug 24, 2020 |
| Wiedemann-Steiner syndrome | 1 | Mar 27, 2018 |
| Wolf-Hirschhorn like syndrome | 1 | May 20, 2020 |
| Wolfram syndrome 1 | 2 | Apr 5, 2024 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Dec 3, 2021 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Feb 21, 2019 |
| X-linked scapuloperoneal muscular dystrophy | 1 | Mar 5, 2025 |
| X-linked severe combined immunodeficiency | 1 | Aug 28, 2025 |
| Xeroderma pigmentosum, group F | 2 | Mar 3, 2021 |
| Xq28 related immunodeficiency | 1 | Aug 28, 2025 |
| YPEL3-related condition | 1 | May 28, 2025 |
| Yao syndrome | 2 | Mar 3, 2021 |
| ZBTB47-related disorder | 1 | Jan 19, 2024 |
| ZNF292-related neurodevelopmental condition | 1 | Mar 27, 2018 |
| ZNF331 deletion | 1 | Jan 19, 2024 |
| ZNF865-related disorder | 1 | Apr 12, 2023 |
| ZTTK syndrome | 1 | Aug 18, 2022 |
| not specified | 2 | Aug 4, 2017 |
