| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2 | Dec 5, 2022 |
| 3M syndrome 1 | 1 | May 31, 2022 |
| 46,XY sex reversal 11 | 1 | Oct 17, 2023 |
| 46,XY sex reversal 3 | 1 | May 31, 2022 |
| 46,XY sex reversal 6 | 1 | Dec 24, 2021 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 1 | Jul 14, 2025 |
| Abnormal finger morphology | 1 | Apr 22, 2020 |
| Abnormality of the skeletal system | 1 | Sep 16, 2020 |
| Achromatopsia 3 | 1 | Nov 29, 2024 |
| Acrocapitofemoral dysplasia | 1 | May 31, 2022 |
| Acyl-CoA oxidase deficiency | 1 | May 31, 2022 |
| Adams-Oliver syndrome 6 | 1 | Jun 24, 2023 |
| Adenylosuccinate lyase deficiency | 1 | Dec 3, 2025 |
| Adrenocortical carcinoma, hereditary | 1 | Jan 23, 2024 |
| Adrenoleukodystrophy | 1 | Jan 21, 2021 |
| Adult hypophosphatasia | 1 | Feb 2, 2023 |
| Aganglionic megacolon | 3 | Apr 16, 2020 |
| Age related macular degeneration 1 | 1 | Dec 3, 2025 |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 | Jul 14, 2025 |
| Aicardi-Goutieres syndrome 7 | 1 | Dec 5, 2022 |
| Al Kaissi syndrome | 1 | Dec 5, 2022 |
| Al-Gazali syndrome | 1 | May 31, 2022 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Mar 31, 2020 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Dec 24, 2021 |
| Allan-Herndon-Dudley syndrome | 2 | Dec 15, 2023 |
| Alstrom syndrome | 1 | Feb 22, 2025 |
| Alzheimer disease 6 | 1 | May 31, 2022 |
| Amelogenesis imperfecta type 1G | 1 | Jul 23, 2025 |
| Anauxetic dysplasia 1 | 1 | Dec 5, 2022 |
| Angelman syndrome | 2 | Dec 2, 2023 |
| Anxiety | 1 | Feb 14, 2020 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | Jan 5, 2024 |
| Arrhythmogenic right ventricular dysplasia 13 | 1 | Oct 17, 2023 |
| Arrhythmogenic right ventricular dysplasia 2 | 2 | May 31, 2022 |
| Arthrogryposis Multiplex Congenita and Immunodeficiency | 1 | Aug 19, 2025 |
| Arthrogryposis multiplex congenita | 1 | Jul 9, 2025 |
| Arthrogryposis multiplex congenita 6 | 2 | Feb 22, 2025 |
| Aspergillosis, susceptibility to | 1 | Jul 14, 2025 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Mar 17, 2023 |
| Ataxia-telangiectasia syndrome | 1 | Jan 5, 2024 |
| Atelosteogenesis type I | 1 | May 31, 2022 |
| Atelosteogenesis type III | 1 | May 31, 2022 |
| Atrial conduction disease | 2 | Dec 5, 2022 |
| Atrial fibrillation, familial, 13 | 1 | Dec 24, 2021 |
| Atrial fibrillation, familial, 15 | 1 | Apr 22, 2020 |
| Autism spectrum disorder | 1 | Dec 5, 2022 |
| Autism, susceptibility to, 16 | 1 | May 31, 2022 |
| Autistic behavior | 1 | Sep 15, 2020 |
| Autoinflammation with arthritis and dyskeratosis | 1 | Feb 22, 2025 |
| Autosomal dominant centronuclear myopathy | 1 | Nov 27, 2019 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Mar 16, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Dec 5, 2022 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Dec 24, 2021 |
| Autosomal dominant optic atrophy classic form | 2 | Jul 8, 2024 |
| Autosomal dominant osteopetrosis 2 | 1 | Dec 5, 2022 |
| Autosomal recessive congenital ichthyosis 1 | 1 | Dec 27, 2022 |
| Autosomal recessive congenital ichthyosis 10 | 1 | May 31, 2022 |
| Autosomal recessive congenital ichthyosis 2 | 1 | Jun 24, 2023 |
| Autosomal recessive congenital ichthyosis 3 | 1 | May 31, 2022 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Feb 2, 2023 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Dec 3, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Dec 3, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 | Apr 24, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 2 | May 31, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | Oct 8, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Dec 3, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 6 | Oct 8, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Dec 5, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 | Feb 22, 2025 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Dec 5, 2022 |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 | Dec 5, 2022 |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 | Feb 22, 2025 |
| Autosomal recessive nonsyndromic hearing loss 89 | 2 | Jul 28, 2023 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Sep 15, 2020 |
| Autosomal recessive osteopetrosis 1 | 2 | Sep 16, 2020 |
| Autosomal recessive osteopetrosis 4 | 1 | Dec 5, 2022 |
| Autosomal recessive spastic paraplegia type 76 | 1 | Dec 5, 2022 |
| Autosomal recessive spinocerebellar ataxia 14 | 2 | Dec 5, 2022 |
| Autosomal recessive spinocerebellar ataxia 15 | 1 | Jun 13, 2023 |
| BDV syndrome | 1 | Sep 19, 2024 |
| Bardet-Biedl syndrome 2 | 1 | Jul 23, 2025 |
| Bardet-Biedl syndrome 6 | 1 | May 31, 2022 |
| Bardet-Biedl syndrome 9 | 1 | Feb 2, 2023 |
| Bartsocas-Papas syndrome 1 | 1 | Oct 8, 2025 |
| Bartter disease type 2 | 1 | Nov 13, 2019 |
| Basal cell carcinoma, susceptibility to, 7 | 1 | Jan 23, 2024 |
| Basal cell nevus syndrome 1 | 1 | Oct 8, 2025 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 1 | Dec 3, 2025 |
| Basilicata-Akhtar syndrome | 1 | Jul 14, 2025 |
| Becker muscular dystrophy | 3 | Jul 8, 2024 |
| Benign recurrent intrahepatic cholestasis type 1 | 1 | May 31, 2022 |
| Bent bone dysplasia syndrome 2 | 1 | Jul 8, 2024 |
| Bethlem myopathy 1A | 2 | May 31, 2022 |
| Bethlem myopathy 1B | 1 | Oct 8, 2025 |
| Bilateral frontoparietal polymicrogyria | 1 | Oct 17, 2023 |
| Biotin-responsive basal ganglia disease | 3 | Dec 3, 2025 |
| Birt-Hogg-Dube syndrome | 1 | Jun 9, 2021 |
| Bleeding disorder, platelet-type, 24 | 1 | Oct 8, 2025 |
| Blepharocheilodontic syndrome 1 | 2 | Aug 24, 2023 |
| Bohring-Opitz syndrome | 1 | May 31, 2022 |
| Bone marrow failure syndrome 5 | 1 | Jan 23, 2024 |
| Boomerang dysplasia | 1 | May 31, 2022 |
| Boudin-Mortier syndrome | 1 | Dec 3, 2025 |
| Brachycephaly | 1 | Jan 8, 2020 |
| Brain-lung-thyroid syndrome | 1 | Apr 20, 2023 |
| Branchiootic syndrome 1 | 1 | May 31, 2022 |
| Brown-Vialetto-van Laere syndrome 1 | 1 | Nov 29, 2024 |
| Brugada syndrome 1 | 1 | Jan 22, 2021 |
| Brugada syndrome 4 | 1 | Mar 22, 2025 |
| Brugada syndrome 5 | 1 | Dec 24, 2021 |
| CARASIL syndrome | 1 | Apr 16, 2020 |
| CHARGE syndrome | 1 | Nov 26, 2019 |
| CTCF-related neurodevelopmental disorder | 1 | Sep 19, 2024 |
| Café-au-lait macules with pulmonary stenosis | 1 | Sep 19, 2024 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Dec 5, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Jul 14, 2025 |
| Cardiac valvular dysplasia, X-linked | 1 | Oct 28, 2024 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 2 | Oct 8, 2025 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Sep 19, 2024 |
| Cardiomyopathy, familial hypertrophic, 30, atrial | 1 | Feb 22, 2025 |
| Cardiospondylocarpofacial syndrome | 1 | Jun 9, 2021 |
| Carey-Fineman-Ziter syndrome 1 | 1 | Jul 8, 2024 |
| Cataract 30 | 1 | Oct 8, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | May 31, 2022 |
| Central core myopathy | 2 | Mar 22, 2025 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Oct 8, 2025 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Dec 5, 2022 |
| Cerebellar atrophy | 2 | Jun 9, 2021 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Jun 9, 2021 |
| Cerebrooculofacioskeletal syndrome 1 | 2 | Feb 28, 2023 |
| Ceroid lipofuscinosis, neuronal, 6A | 3 | Dec 3, 2025 |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 2 | Dec 3, 2025 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Dec 24, 2021 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Dec 5, 2022 |
| Charcot-Marie-Tooth disease recessive intermediate C | 1 | May 31, 2022 |
| Charcot-Marie-Tooth disease type 2A1 | 1 | Jun 13, 2023 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Feb 22, 2025 |
| Charcot-Marie-Tooth disease type 4B2 | 1 | Jun 13, 2023 |
| Charcot-Marie-Tooth disease type 4G | 1 | Jul 14, 2025 |
| Charcot-Marie-Tooth disease type 4H | 2 | Oct 8, 2025 |
| Charcot-Marie-Tooth disease type X | 1 | Dec 5, 2022 |
| Cholestanol storage disease | 1 | Dec 5, 2022 |
| Chorea-acanthocytosis | 1 | Mar 16, 2020 |
| Choroid plexus papilloma | 1 | Jan 23, 2024 |
| Chédiak-Higashi syndrome | 1 | Jun 9, 2021 |
| Ciliary dyskinesia, primary, 46 | 2 | May 31, 2022 |
| Ciliary dyskinesia, primary, 49, without situs inversus | 2 | Sep 19, 2024 |
| Ciliary dyskinesia, primary, 50 | 2 | Oct 8, 2025 |
| Citrullinemia type I | 1 | Dec 5, 2022 |
| Cleidocranial dysostosis | 1 | Sep 19, 2024 |
| Cockayne syndrome type 2 | 2 | Feb 28, 2023 |
| Coffin-Siris syndrome 1 | 1 | Dec 3, 2025 |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 1 | May 6, 2020 |
| Colorectal cancer | 1 | Jan 23, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Dec 24, 2021 |
| Combined immunodeficiency due to DOCK8 deficiency | 2 | May 6, 2020 |
| Combined immunodeficiency due to LRBA deficiency | 3 | Dec 2, 2023 |
| Combined oxidative phosphorylation defect type 13 | 1 | Feb 22, 2025 |
| Combined oxidative phosphorylation defect type 30 | 1 | Dec 5, 2022 |
| Combined oxidative phosphorylation deficiency 53 | 1 | Nov 29, 2024 |
| Cone dystrophy 3 | 1 | Dec 5, 2022 |
| Cone-rod dystrophy 12 | 1 | Jul 8, 2024 |
| Cone-rod dystrophy 20 | 1 | Oct 8, 2025 |
| Cone-rod dystrophy 3 | 1 | Jul 8, 2024 |
| Congenital anomalies of kidney and urinary tract 3 | 1 | Dec 3, 2025 |
| Congenital anomaly of face | 1 | Mar 16, 2020 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 1 | May 31, 2022 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Jul 8, 2024 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Dec 5, 2022 |
| Congenital diarrhea 6 | 2 | Apr 17, 2020 |
| Congenital disorder of glycosylation, type 2v | 1 | Feb 22, 2025 |
| Congenital factor VII deficiency | 2 | May 31, 2022 |
| Congenital generalized lipodystrophy type 2 | 2 | Feb 22, 2025 |
| Congenital heart defects and skeletal malformations syndrome | 1 | Dec 5, 2022 |
| Congenital hereditary endothelial dystrophy of cornea | 1 | Jul 8, 2024 |
| Congenital hyperammonemia, type I | 2 | Jul 14, 2025 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 | Feb 22, 2025 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Dec 3, 2025 |
| Congenital myasthenic syndrome 10 | 1 | Feb 17, 2020 |
| Congenital myasthenic syndrome 12 | 1 | Sep 19, 2024 |
| Congenital myasthenic syndrome 1A | 1 | Dec 5, 2022 |
| Congenital myasthenic syndrome 4A | 1 | Dec 24, 2021 |
| Congenital myasthenic syndrome 9 | 1 | Oct 8, 2025 |
| Congenital myopathy 4A, autosomal dominant | 1 | Jul 8, 2024 |
| Congenital myotonia, autosomal dominant form | 1 | Oct 17, 2023 |
| Congenital myotonia, autosomal recessive form | 1 | Oct 8, 2025 |
| Congenital nystagmus | 1 | Mar 18, 2020 |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 | Oct 9, 2025 |
| Cornelia de Lange syndrome 1 | 1 | Sep 19, 2024 |
| Cowden syndrome 1 | 1 | Oct 8, 2025 |
| Craniofacial microsomia 1 | 1 | May 31, 2022 |
| Craniofrontonasal syndrome | 1 | Jul 24, 2023 |
| Cutaneous porphyria | 1 | Nov 29, 2019 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 | Dec 5, 2022 |
| Cutis laxa, autosomal recessive, type 1A | 1 | Jan 21, 2021 |
| Cystic fibrosis | 4 | Jul 8, 2024 |
| Cystinuria | 1 | Dec 3, 2025 |
| DE SANCTIS-CACCHIONE SYNDROME | 2 | Feb 28, 2023 |
| Death in childhood | 1 | Jan 8, 2020 |
| Decreased circulating vitamin D concentration | 1 | Jan 8, 2020 |
| Deeah syndrome | 1 | Dec 5, 2022 |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 1 | Sep 19, 2024 |
| Deficiency of steroid 11-beta-monooxygenase | 3 | Oct 8, 2025 |
| Dejerine-Sottas disease | 2 | Dec 3, 2025 |
| Developmental and epileptic encephalopathy 103 | 1 | Oct 8, 2025 |
| Developmental and epileptic encephalopathy 106 | 1 | Sep 19, 2024 |
| Developmental and epileptic encephalopathy 108 | 1 | Dec 3, 2025 |
| Developmental and epileptic encephalopathy 6B | 2 | Oct 17, 2023 |
| Developmental and epileptic encephalopathy 92 | 1 | Dec 5, 2022 |
| Developmental and epileptic encephalopathy 93 | 1 | Feb 13, 2023 |
| Developmental and epileptic encephalopathy 97 | 1 | Jun 13, 2023 |
| Developmental and epileptic encephalopathy 98 | 1 | Oct 8, 2025 |
| Developmental and epileptic encephalopathy, 1 | 1 | May 31, 2022 |
| Developmental and epileptic encephalopathy, 11 | 2 | Oct 28, 2024 |
| Developmental and epileptic encephalopathy, 18 | 2 | May 31, 2022 |
| Developmental and epileptic encephalopathy, 19 | 1 | Dec 24, 2021 |
| Developmental and epileptic encephalopathy, 2 | 1 | Jan 5, 2024 |
| Developmental and epileptic encephalopathy, 23 | 2 | Jun 9, 2021 |
| Developmental and epileptic encephalopathy, 36 | 1 | Jul 24, 2023 |
| Developmental and epileptic encephalopathy, 4 | 1 | Jul 24, 2023 |
| Developmental and epileptic encephalopathy, 42 | 1 | Jan 21, 2021 |
| Developmental and epileptic encephalopathy, 59 | 2 | Dec 5, 2022 |
| Developmental and epileptic encephalopathy, 62 | 1 | Dec 5, 2022 |
| Developmental and epileptic encephalopathy, 7 | 1 | May 31, 2022 |
| Developmental and epileptic encephalopathy, 90 | 1 | Nov 29, 2024 |
| Developmental cataract | 2 | Mar 31, 2020 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Dec 5, 2022 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Feb 22, 2025 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Dec 5, 2022 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Jul 14, 2025 |
| Developmental regression | 3 | Apr 22, 2020 |
| DiGeorge syndrome | 1 | Oct 28, 2024 |
| Diabetes mellitus, noninsulin-dependent, 1 | 1 | Dec 3, 2025 |
| Diaphyseal dysplasia | 1 | Jan 8, 2020 |
| Diaphyseal sclerosis | 1 | Jan 8, 2020 |
| Diarrhea | 1 | Mar 18, 2020 |
| Dilated cardiomyopathy 1AA | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy 1C | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy 1D | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy 1EE | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy 1G | 4 | Sep 19, 2024 |
| Dilated cardiomyopathy 1I | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy 1S | 2 | Dec 5, 2022 |
| Dilated cardiomyopathy 1V | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy 1W | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy with left ventricular noncompaction | 2 | Jul 8, 2024 |
| Distal arthrogryposis type 5D | 1 | Sep 19, 2024 |
| Distal myopathy with anterior tibial onset | 3 | Dec 5, 2022 |
| Dubin-Johnson syndrome | 2 | Oct 9, 2025 |
| Duchenne muscular dystrophy | 11 | Oct 8, 2025 |
| Dyskeratosis congenita, X-linked | 1 | Dec 2, 2023 |
| Dystonia 24 | 1 | Jul 8, 2024 |
| Dystonia 30 | 1 | Oct 8, 2025 |
| Dystonia 34, myoclonic | 2 | Jul 8, 2024 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 1 | Jul 8, 2024 |
| EAST syndrome | 1 | Jul 24, 2023 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 | May 31, 2022 |
| Eichsfeld type congenital muscular dystrophy | 1 | Jul 23, 2025 |
| Elevated circulating alkaline phosphatase concentration | 1 | Jan 8, 2020 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Jul 14, 2025 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 | Oct 8, 2025 |
| Encephalopathy due to GLUT1 deficiency | 2 | Jul 14, 2025 |
| Enhanced S-cone syndrome | 1 | Sep 19, 2024 |
| Epidermolysis bullosa pruriginosa | 3 | May 20, 2025 |
| Epidermolysis bullosa simplex with nail dystrophy | 2 | Jun 24, 2023 |
| Epidermolysis bullosa, junctional 2A, intermediate | 1 | Dec 5, 2022 |
| Epidermolysis bullosa, junctional 2B, severe | 1 | Dec 5, 2022 |
| Epidermolysis bullosa, junctional 5A, intermediate | 1 | Sep 19, 2024 |
| Epilepsy | 1 | Mar 16, 2020 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Dec 3, 2025 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Jul 8, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 1 | Dec 5, 2022 |
| Epilepsy, juvenile absence, susceptibility to, 1 | 1 | Dec 3, 2025 |
| FETOMATERNAL ALLOIMMUNE THROMBOCYTOPENIA 1 | 1 | Oct 8, 2025 |
| FG syndrome 2 | 1 | Oct 28, 2024 |
| FOXG1 disorder | 1 | Dec 24, 2021 |
| Fabry disease | 1 | Feb 22, 2025 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 1 | Feb 13, 2023 |
| Factor H deficiency | 1 | Feb 13, 2023 |
| Factor V and factor VIII, combined deficiency of, type 1 | 2 | Dec 5, 2022 |
| Factor V deficiency | 1 | Nov 29, 2019 |
| Factor XIII, A subunit, deficiency of | 2 | Oct 8, 2025 |
| Failure to thrive | 1 | Sep 16, 2020 |
| Familial cancer of breast | 2 | Dec 5, 2022 |
| Familial chronic mucocutaneous candidiasis | 1 | Jul 14, 2025 |
| Familial hemophagocytic lymphohistiocytosis 3 | 1 | Apr 18, 2020 |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 | Dec 5, 2022 |
| Farber lipogranulomatosis | 2 | Dec 5, 2022 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Mar 18, 2020 |
| Febrile seizures, familial, 4 | 1 | Dec 24, 2021 |
| Fliedner-Zweier syndrome | 1 | Sep 19, 2024 |
| Focal clonic seizure | 2 | Apr 22, 2020 |
| Focal segmental glomerulosclerosis 2 | 1 | May 31, 2022 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 1 | Apr 24, 2025 |
| Friedreich ataxia 1 | 1 | Sep 19, 2024 |
| Frontometaphyseal dysplasia 1 | 1 | Oct 28, 2024 |
| Frontometaphyseal dysplasia 2 | 1 | Jun 9, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 | Aug 24, 2023 |
| GAPO syndrome | 1 | Feb 22, 2025 |
| GNE myopathy | 6 | Jul 14, 2025 |
| Gabriele de Vries syndrome | 1 | Feb 25, 2025 |
| Gaucher disease perinatal lethal | 1 | Nov 27, 2019 |
| Gaucher disease type I | 1 | Nov 27, 2019 |
| Gaucher disease type II | 1 | Nov 27, 2019 |
| Gaucher disease type III | 1 | Nov 27, 2019 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | Nov 27, 2019 |
| Generalized epilepsy with febrile seizures plus, type 2 | 5 | Dec 3, 2025 |
| Geroderma osteodysplastica | 1 | Dec 5, 2022 |
| Giant axonal neuropathy 1 | 1 | Oct 8, 2025 |
| Glanzmann thrombasthenia 1 | 1 | Feb 22, 2025 |
| Glaucoma 1, open angle, A | 1 | Jun 9, 2021 |
| Glioma susceptibility 1 | 1 | Jan 23, 2024 |
| Global developmental delay | 3 | Nov 27, 2019 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 1 | Oct 8, 2025 |
| Glucocorticoid deficiency 1 | 1 | May 31, 2022 |
| Glucocorticoid deficiency 4 | 1 | Feb 22, 2025 |
| Glucocorticoid deficiency with achalasia | 2 | Apr 24, 2025 |
| Glutamate pyruvate transaminase 2 deficiency | 2 | Jul 14, 2025 |
| Glutaric aciduria, type 1 | 1 | Oct 8, 2025 |
| Glycogen storage disease IXa1 | 1 | Nov 29, 2024 |
| Glycogen storage disease IXd | 1 | Mar 22, 2025 |
| Griscelli syndrome type 2 | 1 | Jul 24, 2023 |
| Hajdu-Cheney syndrome | 2 | Dec 3, 2025 |
| Hearing loss, autosomal dominant 74 | 1 | Jul 23, 2025 |
| Hematuria, benign familial, 1 | 1 | Jul 14, 2025 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 | Feb 13, 2023 |
| Hepatocellular carcinoma | 2 | Jun 9, 2021 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 1 | Dec 5, 2022 |
| Hereditary angioedema type 1 | 1 | Nov 27, 2019 |
| Hereditary antithrombin deficiency | 1 | Nov 26, 2019 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Dec 24, 2021 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | Sep 16, 2020 |
| Hereditary factor VIII deficiency disease | 1 | Nov 29, 2019 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Jul 14, 2025 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | May 31, 2022 |
| Hereditary motor and sensory neuropathy | 2 | Mar 19, 2020 |
| Hereditary spastic paraplegia 35 | 1 | Dec 15, 2023 |
| Hereditary spastic paraplegia 44 | 1 | Jul 8, 2024 |
| Hereditary spastic paraplegia 46 | 1 | Dec 5, 2022 |
| Hereditary spastic paraplegia 48 | 2 | Dec 24, 2021 |
| Hereditary spastic paraplegia 73 | 1 | Sep 19, 2024 |
| Hereditary spherocytosis type 1 | 2 | Jun 24, 2023 |
| Hereditary spherocytosis type 2 | 1 | Dec 4, 2019 |
| Hermansky-Pudlak syndrome 1 | 2 | Nov 29, 2019 |
| Hermansky-Pudlak syndrome 4 | 2 | Nov 29, 2024 |
| Heterotopia, periventricular, X-linked dominant | 1 | Oct 28, 2024 |
| Holoprosencephaly 10 | 1 | Jul 14, 2025 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Feb 22, 2025 |
| Hydatidiform mole, recurrent, 1 | 2 | Apr 9, 2020 |
| Hypercholesterolemia, familial, 1 | 1 | Dec 3, 2025 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Sep 15, 2020 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 1 | Nov 13, 2019 |
| Hyperinsulinemic hypoglycemia, familial, 4 | 1 | Sep 19, 2024 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Dec 5, 2022 |
| Hyperlipoproteinemia, type I | 1 | Jul 8, 2024 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 | Jun 13, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Nov 21, 2019 |
| Hypertrophic cardiomyopathy | 2 | Jul 8, 2024 |
| Hypertrophic cardiomyopathy 1 | 1 | May 31, 2022 |
| Hypertrophic cardiomyopathy 4 | 2 | Jun 13, 2023 |
| Hypertrophic cardiomyopathy 9 | 4 | Sep 19, 2024 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 3 | Oct 10, 2025 |
| Hypogonadotropic hypogonadism 25 with anosmia | 1 | Dec 5, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Nov 29, 2024 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Jul 14, 2025 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Jul 14, 2025 |
| Hypokalemia | 1 | Nov 27, 2019 |
| Hypomagnesemia | 1 | Nov 27, 2019 |
| Hypomyelinating leukodystrophy 2 | 1 | Jul 8, 2024 |
| Hypomyelinating leukodystrophy 6 | 3 | Nov 29, 2024 |
| Hypomyelinating leukodystrophy 9 | 1 | Sep 15, 2020 |
| Hypoplastic acetabulae | 1 | Jan 8, 2020 |
| Hypothyroidism | 1 | Feb 14, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 | Feb 22, 2025 |
| Hypotrichosis 8 | 1 | Dec 5, 2022 |
| Hypouricemia, renal, 2 | 2 | Feb 22, 2025 |
| Ichthyosis bullosa of Siemens | 1 | Jul 8, 2024 |
| Imerslund-Grasbeck syndrome type 1 | 1 | Mar 22, 2025 |
| Imerslund-Grasbeck syndrome type 2 | 1 | Oct 8, 2025 |
| Immunodeficiency | 2 | Dec 30, 2019 |
| Immunodeficiency 35 | 1 | Feb 22, 2025 |
| Immunodeficiency 96 | 1 | Oct 8, 2025 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Dec 24, 2021 |
| Infantile neuroaxonal dystrophy | 1 | Dec 3, 2025 |
| Infantile onset spinocerebellar ataxia | 1 | Nov 13, 2019 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Dec 5, 2022 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Dec 3, 2025 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 | Feb 22, 2025 |
| Intellectual disability | 3 | Jun 9, 2021 |
| Intellectual disability, X-linked 1 | 2 | Dec 3, 2025 |
| Intellectual disability, autosomal dominant 22 | 1 | Dec 24, 2021 |
| Intellectual disability, autosomal dominant 24 | 1 | Dec 3, 2025 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Jul 14, 2025 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Dec 24, 2021 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Sep 19, 2024 |
| Intestinal hypomagnesemia 1 | 3 | Dec 15, 2023 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 | Oct 28, 2024 |
| Intrahepatic cholestasis with episodic jaundice | 1 | Nov 29, 2019 |
| Iron overload, susceptibility to | 1 | Jul 23, 2025 |
| Isolated thyroid-stimulating hormone deficiency | 1 | Dec 3, 2025 |
| Joubert syndrome 5 | 1 | Oct 17, 2023 |
| Junctional epidermolysis bullosa with pyloric atresia | 1 | Jun 9, 2021 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Jun 9, 2021 |
| Juvenile myelomonocytic leukemia | 1 | Sep 19, 2024 |
| Juvenile nephropathic cystinosis | 1 | Nov 28, 2019 |
| Juvenile onset Parkinson disease 19A | 1 | Jun 13, 2023 |
| Juvenile-onset progressive generalized dystonia | 1 | Jun 9, 2021 |
| KIF5B-related skeletal dysplasia | 1 | Feb 22, 2025 |
| Kidney damage | 1 | Jan 8, 2020 |
| Kindler syndrome | 2 | Jul 14, 2025 |
| Kleefstra syndrome 2 | 1 | Nov 27, 2019 |
| Knobloch syndrome | 1 | Dec 24, 2021 |
| Kufor-Rakeb syndrome | 2 | Jun 13, 2023 |
| Lafora disease | 1 | Dec 24, 2021 |
| Laron-type isolated somatotropin defect | 2 | Oct 28, 2024 |
| Larsen syndrome | 1 | May 31, 2022 |
| Laryngo-onycho-cutaneous syndrome | 1 | Dec 5, 2022 |
| Leber congenital amaurosis 3 | 1 | Dec 5, 2022 |
| Leber optic atrophy | 3 | Jul 8, 2024 |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 1 | Jul 8, 2024 |
| Left ventricular noncompaction 10 | 2 | Dec 5, 2022 |
| Leigh syndrome, mitochondrial | 1 | Dec 3, 2025 |
| Lethal Kniest-like syndrome | 1 | Oct 8, 2025 |
| Lethal congenital contracture syndrome 7 | 1 | Jul 8, 2024 |
| Lethal multiple pterygium syndrome | 1 | Dec 5, 2022 |
| Leukodystrophy | 1 | Nov 22, 2019 |
| Leukodystrophy, hypomyelinating, 15 | 2 | Dec 30, 2019 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 1 | Dec 5, 2022 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Oct 9, 2025 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 1 | Jul 28, 2023 |
| Li-Fraumeni syndrome 1 | 2 | Jul 23, 2025 |
| Liberfarb syndrome | 1 | Nov 29, 2024 |
| Lipoyl transferase 1 deficiency | 1 | Feb 13, 2023 |
| Lissencephaly due to TUBA1A mutation | 2 | Oct 28, 2024 |
| Lowe syndrome | 1 | Nov 29, 2024 |
| Lower limb muscle weakness | 1 | Nov 27, 2019 |
| Lysinuric protein intolerance | 1 | Jun 13, 2023 |
| MEGF10-related myopathy | 1 | Jun 9, 2021 |
| MELAS syndrome | 1 | Dec 3, 2025 |
| MHC class I deficiency | 1 | Aug 24, 2023 |
| MIRAGE syndrome | 3 | Dec 15, 2023 |
| Macrocephaly | 1 | Nov 27, 2019 |
| Macular degeneration, X-linked atrophic | 1 | Dec 5, 2022 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Mar 22, 2025 |
| Maple syrup urine disease | 1 | Jan 5, 2024 |
| Maple syrup urine disease type 1B | 2 | Jul 8, 2024 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | Dec 5, 2022 |
| Marfan syndrome | 1 | May 31, 2022 |
| Maturity-onset diabetes of the young type 3 | 1 | Oct 8, 2025 |
| Maturity-onset diabetes of the young type 7 | 1 | Oct 8, 2025 |
| Maturity-onset diabetes of the young type 8 | 2 | Dec 3, 2025 |
| McKusick-Kaufman syndrome | 1 | May 31, 2022 |
| Meckel syndrome, type 3 | 1 | May 31, 2022 |
| Meconium ileus | 2 | Apr 17, 2020 |
| Megaconial type congenital muscular dystrophy | 1 | Dec 24, 2021 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | May 31, 2022 |
| Melnick-Needles syndrome | 1 | Oct 28, 2024 |
| Menke-Hennekam syndrome 1 | 1 | Dec 24, 2021 |
| Merosin deficient congenital muscular dystrophy | 2 | Jul 8, 2024 |
| Metabolic acidosis | 2 | Mar 19, 2020 |
| Metachromatic leukodystrophy | 1 | Jul 8, 2024 |
| Metaphyseal chondrodysplasia, McKusick type | 1 | Dec 5, 2022 |
| Metaphyseal dysplasia without hypotrichosis | 1 | Dec 5, 2022 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Dec 5, 2022 |
| Microcephaly 14, primary, autosomal recessive | 1 | Dec 5, 2022 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Oct 17, 2023 |
| Microcephaly and chorioretinopathy 1 | 1 | Jun 13, 2023 |
| Microcornea | 1 | Mar 31, 2020 |
| Micropenis | 1 | Sep 16, 2020 |
| Microphthalmia | 1 | Mar 31, 2020 |
| Miller syndrome | 1 | Dec 5, 2022 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Dec 5, 2022 |
| Mitochondrial DNA depletion syndrome 4b | 1 | Dec 5, 2022 |
| Mitochondrial complex I deficiency, nuclear type 5 | 1 | Jun 24, 2023 |
| Mitochondrial complex III deficiency nuclear type 2 | 1 | Jan 5, 2024 |
| Mitochondrial disease | 2 | Jan 5, 2024 |
| Miyoshi muscular dystrophy 1 | 3 | Dec 5, 2022 |
| Mosaic variegated aneuploidy syndrome 3 | 1 | Jul 23, 2025 |
| Motor delay, mild | 1 | Mar 18, 2020 |
| Moyamoya disease 2 | 1 | Sep 19, 2024 |
| Mucopolysaccharidosis type 7 | 1 | May 31, 2022 |
| Mucopolysaccharidosis, MPS-I-S | 1 | Oct 8, 2025 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Nov 29, 2019 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Dec 5, 2022 |
| Muir-Torré syndrome | 1 | Dec 24, 2021 |
| Mulibrey nanism syndrome | 1 | Oct 8, 2025 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Jul 23, 2025 |
| Multiple congenital exostosis | 2 | Dec 24, 2021 |
| Multiple epiphyseal dysplasia type 5 | 1 | Dec 24, 2021 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Dec 24, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Dec 5, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 3 | Oct 8, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 | May 31, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 | Dec 5, 2022 |
| Muscular dystrophy-dystroglycanopathy type B5 | 3 | Oct 8, 2025 |
| Myasthenic syndrome, congenital, 1B, fast-channel | 1 | Dec 5, 2022 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 1 | Jun 13, 2023 |
| Mycobacterium tuberculosis, susceptibility to | 1 | Jul 23, 2025 |
| Myoclonic dystonia 11 | 1 | Dec 24, 2021 |
| Myoclonic epilepsy of Lafora 2 | 1 | Oct 8, 2025 |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 1 | Dec 3, 2025 |
| Myopathy | 2 | Jan 8, 2020 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Jan 23, 2024 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 | Sep 19, 2024 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Dec 5, 2022 |
| Myosin storage myopathy | 1 | Feb 13, 2023 |
| Nemaline myopathy 2 | 2 | Feb 22, 2025 |
| Nemaline myopathy 5 | 1 | Dec 2, 2023 |
| Nemaline myopathy 5B, autosomal recessive, childhood-onset | 1 | Dec 2, 2023 |
| Nephronophthisis-like nephropathy 1 | 1 | Nov 29, 2024 |
| Nephropathic cystinosis | 1 | Nov 28, 2019 |
| Nephrotic syndrome 14 | 1 | Jun 9, 2021 |
| Nephrotic syndrome, type 21 | 2 | May 31, 2022 |
| Neural tube defect | 1 | Dec 24, 2021 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Dec 24, 2021 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Oct 17, 2023 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 1 | Mar 17, 2023 |
| Neurodevelopmental disorder | 1 | Jan 5, 2024 |
| Neurodevelopmental disorder with absent language and variable seizures | 1 | May 31, 2022 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 1 | Feb 22, 2025 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 1 | Nov 29, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 1 | Feb 24, 2025 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 1 | Dec 5, 2022 |
| Neurodevelopmental disorder with dystonia and seizures | 1 | Jan 23, 2024 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Apr 17, 2020 |
| Neurodevelopmental disorder with hearing loss and spasticity | 1 | Oct 17, 2023 |
| Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia | 1 | Apr 24, 2025 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 2 | Apr 24, 2025 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | Dec 3, 2025 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 | Dec 5, 2022 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 1 | Apr 20, 2023 |
| Neurodevelopmental disorder with poor growth and skeletal anomalies | 1 | Dec 5, 2022 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 1 | May 31, 2022 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 2 | Feb 28, 2023 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Dec 5, 2022 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 3 | Nov 29, 2024 |
| Neurofibromatosis, familial spinal | 2 | Sep 19, 2024 |
| Neurofibromatosis, type 1 | 1 | Sep 19, 2024 |
| Neurofibromatosis, type 2 | 1 | Dec 24, 2021 |
| Neurofibromatosis-Noonan syndrome | 1 | Sep 19, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Jul 14, 2025 |
| Neuronal ceroid lipofuscinosis 7 | 2 | Oct 8, 2025 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 1 | Dec 2, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 | May 31, 2022 |
| Neuropathy, congenital hypomyelinating, 2 | 1 | Dec 15, 2023 |
| Neuropathy, congenital hypomyelinating, 3 | 1 | Jul 8, 2024 |
| Neuropathy, hereditary motor and sensory, type 6A | 2 | Feb 22, 2025 |
| Neuropathy, hereditary motor and sensory, type 6B | 1 | Dec 5, 2022 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 1 | Jul 14, 2025 |
| Noonan syndrome 10 | 1 | Apr 24, 2025 |
| Noonan syndrome 4 | 1 | Oct 8, 2025 |
| Noonan syndrome 8 | 1 | Feb 28, 2023 |
| Nystagmus | 1 | Mar 31, 2020 |
| Ocular cystinosis | 1 | Nov 28, 2019 |
| Oculocutaneous albinism | 1 | Mar 18, 2020 |
| Oculocutaneous albinism type 4 | 1 | Sep 19, 2024 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 | Oct 28, 2024 |
| Optic atrophy 12 | 1 | Oct 17, 2023 |
| Optic atrophy 16 | 1 | Jul 8, 2024 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 2 | Jul 8, 2024 |
| Osteogenesis imperfecta type 8 | 1 | May 31, 2022 |
| Osteogenesis imperfecta type I | 1 | Feb 22, 2025 |
| Osteogenesis imperfecta type III | 1 | Feb 22, 2025 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Feb 22, 2025 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Feb 22, 2025 |
| Osteopenia | 1 | Jan 8, 2020 |
| Oto-palato-digital syndrome, type I | 1 | Oct 28, 2024 |
| Oto-palato-digital syndrome, type II | 1 | Oct 28, 2024 |
| Parkinsonism-dystonia 3, childhood-onset | 1 | Dec 27, 2022 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Dec 24, 2021 |
| Penile hypospadias | 1 | Sep 16, 2020 |
| Periventricular nodular heterotopia 6 | 1 | Feb 13, 2023 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Feb 22, 2025 |
| Peroxisome biogenesis disorder 5B | 1 | Feb 22, 2025 |
| Perrault syndrome 1 | 2 | Dec 24, 2021 |
| Perrault syndrome 5 | 1 | Nov 13, 2019 |
| Peutz-Jeghers syndrome | 1 | Feb 28, 2023 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 1 | Feb 22, 2025 |
| Polyarticular arthritis | 1 | Feb 14, 2020 |
| Polycystic kidney disease | 1 | Apr 16, 2020 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 | May 31, 2022 |
| Polycystic kidney disease 4 | 3 | Jan 5, 2024 |
| Polycystic kidney disease, adult type | 4 | Dec 3, 2025 |
| Pontocerebellar hypoplasia type 2D | 1 | Dec 24, 2021 |
| Pontocerebellar hypoplasia type 9 | 1 | Nov 29, 2024 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Apr 24, 2025 |
| Premature ovarian failure 10 | 1 | Dec 27, 2022 |
| Premature ovarian failure 5 | 1 | Jul 8, 2024 |
| Premature ovarian failure 8 | 1 | Dec 5, 2022 |
| Pretibial dystrophic epidermolysis bullosa | 3 | May 20, 2025 |
| Primary ciliary dyskinesia 32 | 1 | Dec 15, 2023 |
| Primary ciliary dyskinesia 5 | 2 | Dec 27, 2022 |
| Primary ciliary dyskinesia 7 | 1 | Oct 8, 2025 |
| Primary dilated cardiomyopathy | 5 | Dec 5, 2022 |
| Primary hyperoxaluria | 1 | Apr 18, 2020 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 | May 31, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Dec 5, 2022 |
| Progressive familial intrahepatic cholestasis type 1 | 2 | May 31, 2022 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Feb 22, 2025 |
| Progressive osseous heteroplasia | 1 | Jul 14, 2025 |
| Progressive sclerosing poliodystrophy | 1 | Dec 5, 2022 |
| Prostate cancer | 1 | Dec 24, 2021 |
| Pseudohypoparathyroidism type 1B | 1 | Jul 14, 2025 |
| Pseudohypoparathyroidism type 1C | 1 | Jul 14, 2025 |
| Pseudohypoparathyroidism type I A | 1 | Jul 14, 2025 |
| Pseudopseudohypoparathyroidism | 1 | Jul 14, 2025 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 | Jul 8, 2024 |
| Purine-nucleoside phosphorylase deficiency | 1 | Sep 19, 2024 |
| Pyknodysostosis | 2 | Feb 22, 2025 |
| Pyruvate dehydrogenase E1-alpha deficiency | 2 | Jul 8, 2024 |
| Pyruvate kinase deficiency of red cells | 2 | Aug 24, 2023 |
| Radio-Tartaglia syndrome | 1 | Jul 24, 2023 |
| Rauch-Steindl syndrome | 1 | Oct 8, 2025 |
| Recessive dystrophic epidermolysis bullosa | 3 | May 20, 2025 |
| Recurrent skin infections | 2 | Dec 30, 2019 |
| Relative macrocephaly | 2 | Apr 22, 2020 |
| Renal cysts and diabetes syndrome | 1 | Jan 23, 2024 |
| Renal tubular acidosis | 2 | Mar 19, 2020 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 1 | Dec 5, 2022 |
| Respiratory tract infection | 1 | Mar 18, 2020 |
| Retinal macular dystrophy type 2 | 1 | Jul 8, 2024 |
| Retinitis pigmentosa | 1 | Sep 19, 2024 |
| Retinitis pigmentosa 19 | 1 | Jul 8, 2024 |
| Retinitis pigmentosa 27 | 1 | Dec 24, 2021 |
| Retinitis pigmentosa 3 | 2 | Jun 13, 2023 |
| Retinitis pigmentosa 37 | 1 | Sep 19, 2024 |
| Retinitis pigmentosa 38 | 1 | Oct 17, 2023 |
| Retinitis pigmentosa 45 | 1 | Dec 5, 2022 |
| Retinitis pigmentosa 9 | 2 | Feb 22, 2025 |
| Retinitis pigmentosa 90 | 1 | Nov 29, 2024 |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 1 | Dec 5, 2022 |
| Rett syndrome | 1 | Oct 8, 2025 |
| Rhabdomyolysis | 1 | Jan 8, 2020 |
| Rickets | 2 | Mar 19, 2020 |
| Rod-cone dystrophy | 2 | May 3, 2020 |
| Roussy-Lévy syndrome | 1 | Dec 15, 2023 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Dec 24, 2021 |
| SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 | 1 | Mar 8, 2021 |
| Salla disease | 1 | May 31, 2022 |
| Schaaf-Yang syndrome | 1 | Jul 8, 2024 |
| Schwartz-Jampel syndrome type 1 | 1 | Oct 8, 2025 |
| Seizure | 1 | Jan 8, 2020 |
| Seizures, benign familial neonatal, 1 | 1 | May 31, 2022 |
| Seizures, benign familial neonatal, 2 | 1 | Oct 28, 2024 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Dec 5, 2022 |
| Severe early-childhood-onset retinal dystrophy | 1 | Jul 8, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Dec 3, 2025 |
| Severe global developmental delay | 1 | Sep 16, 2020 |
| Severe muscular hypotonia | 2 | Apr 22, 2020 |
| Severe myoclonic epilepsy in infancy | 6 | Dec 3, 2025 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Dec 3, 2025 |
| Short stature due to primary acid-labile subunit deficiency | 1 | Oct 8, 2025 |
| Shprintzen-Goldberg syndrome | 1 | Feb 22, 2025 |
| Sialic acid storage disease, severe infantile type | 1 | May 31, 2022 |
| Sifrim-Hitz-Weiss syndrome | 1 | Jun 9, 2021 |
| Singleton-Merten syndrome 1 | 1 | Dec 5, 2022 |
| Sjögren-Larsson syndrome | 2 | Feb 28, 2023 |
| Skeletal dysplasia | 1 | Dec 5, 2022 |
| Snijders blok-fisher syndrome | 1 | Jul 24, 2023 |
| Spastic ataxia 2 | 1 | Oct 17, 2023 |
| Spastic paraplegia 82, autosomal recessive | 2 | Dec 24, 2021 |
| Spinal muscular atrophy | 1 | Nov 29, 2019 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Dec 24, 2021 |
| Spinocerebellar ataxia 44 | 1 | Dec 24, 2021 |
| Spinocerebellar ataxia type 29 | 1 | Dec 5, 2022 |
| Spinocerebellar ataxia type 42 | 3 | Dec 2, 2023 |
| Spinocerebellar ataxia type 5 | 1 | Dec 5, 2022 |
| Spinocerebellar ataxia type 6 | 1 | Dec 5, 2022 |
| Spinocerebellar ataxia, autosomal recessive 26 | 1 | Jul 24, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Jul 23, 2025 |
| Sponastrime dysplasia | 1 | Oct 17, 2023 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 1 | May 31, 2022 |
| Spondyloepiphyseal dysplasia tarda | 1 | Jan 8, 2020 |
| Stargardt disease 4 | 1 | Jul 8, 2024 |
| Steel syndrome | 1 | Dec 5, 2022 |
| Stickler syndrome type 2 | 1 | Jan 5, 2024 |
| Stromme syndrome | 1 | Mar 18, 2020 |
| Structural heart defects and renal anomalies syndrome | 1 | Jul 8, 2024 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 | Jun 9, 2021 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Dec 5, 2022 |
| Syndromic X-linked intellectual disability Najm type | 1 | Dec 3, 2025 |
| Systemic lupus erythematosus, susceptibility to, 1 | 1 | Feb 22, 2025 |
| Terminal osseous dysplasia-pigmentary defects syndrome | 1 | Oct 28, 2024 |
| Thrombomodulin-related bleeding disorder | 1 | Apr 24, 2025 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 | Jan 8, 2020 |
| Thyroid cancer, nonmedullary, 2 | 1 | Oct 8, 2025 |
| Tibial muscular dystrophy | 1 | Sep 19, 2024 |
| Transient bullous dermolysis of the newborn | 1 | Aug 24, 2023 |
| Trichothiodystrophy 1, photosensitive | 1 | Dec 24, 2021 |
| Tuberous sclerosis 1 | 1 | Jan 21, 2021 |
| Tuberous sclerosis 2 | 1 | Jul 8, 2024 |
| Type 2 diabetes mellitus | 3 | Dec 3, 2025 |
| Tyrosinase-positive oculocutaneous albinism | 2 | Sep 19, 2024 |
| UV-sensitive syndrome 3 | 1 | Nov 29, 2024 |
| Ullrich congenital muscular dystrophy 1A | 2 | May 31, 2022 |
| Ullrich congenital muscular dystrophy 1B | 3 | Oct 8, 2025 |
| Ulnar-mammary syndrome | 1 | Dec 5, 2022 |
| Usher syndrome, type 4 | 1 | Jul 8, 2024 |
| Van der Woude syndrome 1 | 1 | Jan 23, 2024 |
| Vanishing white matter disease | 1 | May 31, 2022 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2 | May 31, 2022 |
| Vissers-Bodmer syndrome | 1 | Feb 22, 2025 |
| Vitamin D-dependent rickets, type 1A | 2 | Oct 28, 2024 |
| Waardenburg syndrome type 2E | 1 | Jul 14, 2025 |
| Weiss-Kruszka syndrome | 1 | Feb 22, 2025 |
| Wilms tumor 1 | 1 | Feb 22, 2025 |
| Wilson disease | 6 | Oct 8, 2025 |
| Wolfram syndrome 1 | 2 | Mar 22, 2025 |
| X-linked chondrodysplasia punctata 1 | 1 | Dec 3, 2025 |
| X-linked cone-rod dystrophy 1 | 1 | Dec 5, 2022 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Mar 22, 2025 |
| X-linked reticulate pigmentary disorder | 1 | Jun 9, 2021 |
| Xeroderma pigmentosum, group D | 1 | Dec 24, 2021 |
| Yoon-Bellen neurodevelopmental syndrome | 2 | Sep 19, 2024 |
| Ziegler-Huang syndrome | 1 | Oct 8, 2025 |
| diphthamide-deficiency syndrome | 1 | May 27, 2022 |
| not provided | 4 | Jul 23, 2025 |
