| 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | 2 | Dec 18, 2017 |
| 3-Methylglutaconic aciduria | 1 | Dec 20, 2022 |
| 3-Methylglutaconic aciduria type 2 | 2 | Jan 21, 2020 |
| 3-Methylglutaconic aciduria type 3 | 1 | Jan 21, 2020 |
| 3-Methylglutaric aciduria | 1 | Dec 20, 2022 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Dec 18, 2017 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 2 | Dec 18, 2017 |
| 3-methylglutaconic aciduria type 9 | 2 | Dec 18, 2017 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2 | Dec 20, 2022 |
| 3MC syndrome 1 | 1 | Jan 21, 2020 |
| 8q24.3 microdeletion syndrome | 3 | Sep 17, 2025 |
| AFF3-associated disorder | 1 | Aug 10, 2020 |
| AFG3L2-associated disorder | 1 | Sep 17, 2025 |
| AGO1-associated disorder | 1 | Aug 10, 2020 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 3 | Dec 20, 2022 |
| ALDH18A1-related de Barsy syndrome | 2 | Jan 21, 2020 |
| AMOTL1-associated disorder | 2 | Sep 17, 2025 |
| ANK2-associated disorder | 2 | Sep 17, 2025 |
| ATP5G3-associated disorder | 1 | Aug 10, 2020 |
| Abnormal facial shape | 1 | Dec 20, 2022 |
| Abnormal pinna morphology | 1 | Dec 20, 2022 |
| Abnormal thorax morphology | 1 | Dec 20, 2022 |
| Abnormality of the kidney | 1 | Dec 20, 2022 |
| Abnormality of the pulmonary veins | 1 | Dec 20, 2022 |
| Achondrogenesis type II | 1 | Dec 18, 2017 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Aug 10, 2020 |
| Acromicric dysplasia | 1 | Dec 18, 2017 |
| Actin accumulation myopathy | 2 | Jan 21, 2020 |
| Action myoclonus-renal failure syndrome | 1 | Jan 21, 2020 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 3 | Jan 21, 2020 |
| Acute intermittent porphyria | 1 | Aug 10, 2020 |
| Adenylosuccinate lyase deficiency | 1 | Jan 21, 2020 |
| Adrenoleukodystrophy | 1 | Dec 20, 2022 |
| Aicardi-Goutieres syndrome 2 | 1 | Aug 10, 2020 |
| Aicardi-Goutieres syndrome 4 | 1 | Dec 20, 2022 |
| Aicardi-Goutieres syndrome 6 | 3 | Dec 20, 2022 |
| Aicardi-Goutieres syndrome 7 | 1 | Jan 21, 2020 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Oct 19, 2023 |
| Aldosterone-producing adrenal cortex adenoma | 6 | Dec 10, 2014 |
| Alexander disease | 2 | Sep 17, 2025 |
| Allan-Herndon-Dudley syndrome | 1 | Dec 20, 2022 |
| Alopecia-intellectual disability syndrome 4 | 1 | Oct 19, 2023 |
| Alstrom syndrome | 1 | Oct 19, 2023 |
| Alternating hemiplegia of childhood 2 | 2 | Jan 21, 2020 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Jan 28, 2020 |
| Alzheimer disease 3 | 6 | Sep 17, 2025 |
| Alzheimer disease type 1 | 1 | Oct 19, 2023 |
| Amblyopia | 1 | Dec 20, 2022 |
| Amelogenesis imperfecta, hypocalcification type | 1 | Dec 18, 2017 |
| Aminoacylase 1 deficiency | 1 | Sep 17, 2025 |
| Amyloidosis, hereditary systemic 1 | 1 | Oct 19, 2023 |
| Amyotrophic lateral sclerosis type 1 | 3 | Sep 17, 2025 |
| Amyotrophic lateral sclerosis type 10 | 2 | Sep 17, 2025 |
| Amyotrophic lateral sclerosis type 12 | 1 | Dec 20, 2022 |
| Amyotrophic lateral sclerosis type 6 | 2 | Sep 17, 2025 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 1 | Sep 17, 2025 |
| Anemia | 1 | Dec 20, 2022 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Jan 21, 2020 |
| Aneurysm-osteoarthritis syndrome | 1 | Sep 17, 2025 |
| Aniridia 1 | 1 | Aug 10, 2020 |
| Anisometropia | 2 | Dec 20, 2022 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Dec 20, 2022 |
| Aortic aneurysm, familial thoracic 10 | 2 | Oct 19, 2023 |
| Aortic aneurysm, familial thoracic 7 | 1 | Dec 18, 2017 |
| Aortic valve disease 2 | 1 | Sep 17, 2025 |
| Apparent mineralocorticoid excess | 1 | Jan 21, 2020 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Jan 21, 2020 |
| Arrhythmogenic right ventricular dysplasia 8 | 2 | Sep 17, 2025 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Sep 17, 2025 |
| Arterial calcification, generalized, of infancy, 1 | 2 | Jan 21, 2020 |
| Asphyxiating thoracic dystrophy 3 | 2 | Jan 21, 2020 |
| Astigmatism | 4 | Dec 20, 2022 |
| Ataxia-telangiectasia syndrome | 12 | Sep 17, 2025 |
| Ataxia-telangiectasia-like disorder 1 | 4 | Aug 10, 2020 |
| Atrial septal defect 5 | 1 | Sep 17, 2025 |
| Atrial septal defect 7 | 1 | Sep 17, 2025 |
| Atrial septal defect, ostium secundum type | 1 | Dec 20, 2022 |
| Auditory neuropathy-optic atrophy syndrome | 2 | Dec 20, 2022 |
| Auriculocondylar syndrome 2 | 1 | Oct 19, 2023 |
| Autism | 1 | Dec 20, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 3 | Jan 21, 2020 |
| Autism, susceptibility to, X-linked 4 | 1 | Sep 17, 2025 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Oct 19, 2023 |
| Autosomal dominant Alport syndrome | 12 | Sep 17, 2025 |
| Autosomal dominant Parkinson disease 1 | 1 | Sep 17, 2025 |
| Autosomal dominant Parkinson disease 8 | 1 | Dec 20, 2022 |
| Autosomal dominant Robinow syndrome 2 | 1 | Jan 21, 2020 |
| Autosomal dominant centronuclear myopathy | 1 | Oct 19, 2023 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2 | Aug 10, 2020 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Jan 21, 2020 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2 | Sep 17, 2025 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 3 | Dec 20, 2022 |
| Autosomal dominant hypophosphatemic rickets | 2 | Oct 20, 2017 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 5 | Sep 17, 2025 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Oct 19, 2023 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Sep 17, 2025 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Jan 21, 2020 |
| Autosomal dominant nonsyndromic hearing loss 69 | 1 | Oct 19, 2023 |
| Autosomal dominant optic atrophy classic form | 3 | Oct 19, 2023 |
| Autosomal recessive Alport syndrome | 23 | Oct 19, 2023 |
| Autosomal recessive DOPA responsive dystonia | 4 | Sep 17, 2025 |
| Autosomal recessive Parkinson disease 14 | 1 | Dec 20, 2022 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 5 | Dec 20, 2022 |
| Autosomal recessive ataxia, Beauce type | 5 | Dec 20, 2022 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Jan 21, 2020 |
| Autosomal recessive cutis laxa type 2B | 1 | Aug 10, 2020 |
| Autosomal recessive cutis laxa type 2C | 1 | Dec 18, 2017 |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 | Jan 21, 2020 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Jan 21, 2020 |
| Autosomal recessive hypophosphatemic bone disease | 13 | Sep 17, 2025 |
| Autosomal recessive juvenile Parkinson disease 2 | 4 | Aug 10, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 3 | Sep 17, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Jan 21, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | Jan 21, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 3 | Dec 20, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Sep 17, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Dec 20, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Aug 10, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 | Dec 18, 2017 |
| Autosomal recessive multiple pterygium syndrome | 2 | Dec 20, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18B | 2 | Sep 17, 2025 |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 | Sep 17, 2025 |
| Autosomal recessive nonsyndromic hearing loss 21 | 2 | Sep 17, 2025 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Dec 20, 2022 |
| Autosomal recessive nonsyndromic hearing loss 4 | 3 | Sep 17, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84B | 2 | Sep 17, 2025 |
| Autosomal recessive osteopetrosis 4 | 1 | Jan 21, 2020 |
| Autosomal recessive osteopetrosis 5 | 1 | Dec 18, 2017 |
| Autosomal recessive polycystic kidney disease | 7 | Jan 21, 2020 |
| Autosomal recessive spinocerebellar ataxia 10 | 2 | Aug 10, 2020 |
| Autosomal recessive spinocerebellar ataxia 14 | 1 | Dec 20, 2022 |
| Autosomal recessive spinocerebellar ataxia 16 | 2 | Oct 19, 2023 |
| Autosomal recessive spinocerebellar ataxia 17 | 2 | Aug 10, 2020 |
| Autosomal recessive spinocerebellar ataxia 18 | 1 | Dec 18, 2017 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Sep 17, 2025 |
| Avellino corneal dystrophy | 1 | Jan 21, 2020 |
| Axial spondylometaphyseal dysplasia | 1 | Aug 10, 2020 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Sep 17, 2025 |
| Baraitser-Winter syndrome 1 | 4 | Aug 10, 2020 |
| Baraitser-winter syndrome 2 | 1 | Jan 21, 2020 |
| Bardet-Biedl syndrome 1 | 2 | Jan 21, 2020 |
| Bardet-Biedl syndrome 10 | 2 | Sep 17, 2025 |
| Bardet-Biedl syndrome 12 | 2 | Dec 18, 2017 |
| Bardet-Biedl syndrome 7 | 1 | Dec 20, 2022 |
| Bartter disease type 2 | 1 | Dec 20, 2022 |
| Basilicata-Akhtar syndrome | 2 | Aug 10, 2020 |
| Becker muscular dystrophy | 2 | Aug 10, 2020 |
| Benign familial hematuria | 14 | Oct 19, 2023 |
| Benign hereditary chorea | 2 | Oct 19, 2023 |
| Beta-D-mannosidosis | 1 | Sep 17, 2025 |
| Beta-thalassemia HBB/LCRB | 2 | Sep 17, 2025 |
| Bethlem myopathy 1A | 2 | Dec 20, 2022 |
| Bethlem myopathy 2 | 1 | Sep 17, 2025 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Jan 28, 2020 |
| Biotin-responsive basal ganglia disease | 1 | Dec 18, 2017 |
| Biotinidase deficiency | 2 | Jan 21, 2020 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 3 | Jan 21, 2020 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Jan 21, 2020 |
| Bohring-Opitz syndrome | 3 | Dec 20, 2022 |
| Bone marrow failure syndrome 3 | 1 | Jan 21, 2020 |
| Bone marrow failure syndrome 4 | 1 | Jan 21, 2020 |
| Bone mineral density quantitative trait locus 18 | 1 | Aug 10, 2020 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Dec 18, 2017 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Aug 10, 2020 |
| Brachydactyly type A1A | 2 | Oct 19, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 5 | Sep 17, 2025 |
| Brain small vessel disease 2A, autosomal dominant | 1 | Jan 21, 2020 |
| Brain-lung-thyroid syndrome | 1 | Oct 19, 2023 |
| Branchiooculofacial syndrome | 2 | Oct 19, 2023 |
| Branchiootic syndrome 1 | 1 | Jan 21, 2020 |
| Branchiootorenal syndrome 1 | 3 | Sep 17, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Dec 20, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 3 | Sep 17, 2025 |
| Bruck syndrome 2 | 1 | Jan 21, 2020 |
| Brugada syndrome 1 | 2 | Sep 17, 2025 |
| CBL-related disorder | 1 | Jan 21, 2020 |
| CHARGE syndrome | 8 | Oct 19, 2023 |
| CHEK2-related cancer predisposition | 2 | Sep 17, 2025 |
| CNOT3-associated disorder | 1 | Sep 17, 2025 |
| CSDE1-associated disorder | 2 | Sep 17, 2025 |
| CTCF-related neurodevelopmental disorder | 2 | Aug 10, 2020 |
| Camptomelic dysplasia | 2 | Dec 18, 2017 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Jan 21, 2020 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 2 | Dec 20, 2022 |
| Cardiofaciocutaneous syndrome 1 | 3 | Dec 20, 2022 |
| Cardiofaciocutaneous syndrome 3 | 2 | Dec 20, 2022 |
| Cardiofaciocutaneous syndrome 4 | 2 | Sep 17, 2025 |
| Cardiomyopathy | 4 | Dec 20, 2022 |
| Cardiomyopathy, familial hypertrophic 27 | 2 | Sep 17, 2025 |
| Cardiomyopathy, familial hypertrophic, 28 | 2 | Sep 17, 2025 |
| Cardiomyopathy, familial restrictive, 1 | 1 | Aug 10, 2020 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 | Aug 10, 2020 |
| Cataract | 1 | Dec 20, 2022 |
| Cataract 10 multiple types | 1 | Sep 17, 2025 |
| Cataract 9 multiple types | 1 | Jan 21, 2020 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 3 | Sep 17, 2025 |
| Central core myopathy | 4 | Sep 17, 2025 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | Aug 10, 2020 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Aug 10, 2020 |
| Cerebellar ataxia-hypogonadism syndrome | 2 | Dec 20, 2022 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2 | Dec 20, 2022 |
| Cerebellar vermis hypoplasia | 1 | Dec 20, 2022 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 3 | Sep 17, 2025 |
| Cerebral calcification | 5 | Jun 26, 2018 |
| Cerebral cavernous malformation | 3 | Sep 17, 2025 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Dec 18, 2017 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 5 | Sep 17, 2025 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Dec 20, 2022 |
| Charcot-Marie-Tooth disease axonal type 2T | 1 | Sep 17, 2025 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease dominant intermediate E | 2 | Dec 20, 2022 |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 | Dec 18, 2017 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease type 1F | 1 | Dec 20, 2022 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Sep 17, 2025 |
| Charcot-Marie-Tooth disease type 2I | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease type 4C | 3 | Dec 20, 2022 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Jan 21, 2020 |
| Charlevoix-Saguenay spastic ataxia | 2 | Jan 21, 2020 |
| Childhood apraxia of speech | 2 | Dec 20, 2022 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2 | Dec 18, 2017 |
| Childhood onset GLUT1 deficiency syndrome 2 | 2 | Sep 17, 2025 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Aug 10, 2020 |
| Choanal atresia | 1 | Dec 20, 2022 |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 9 | Dec 2, 2014 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Jan 21, 2020 |
| Christianson syndrome | 2 | Sep 17, 2025 |
| Chromosome 1p32-p31 deletion syndrome | 2 | Aug 10, 2020 |
| Chromosome 2q32-q33 deletion syndrome | 5 | Sep 17, 2025 |
| Ciliary dyskinesia, primary, 38 | 1 | Jan 21, 2020 |
| Cirrhosis of liver | 5 | Jun 26, 2018 |
| Classic dopamine transporter deficiency syndrome | 1 | Jan 21, 2020 |
| Clubfoot | 1 | Dec 20, 2022 |
| Cobalamin C disease | 2 | Aug 10, 2020 |
| Cockayne syndrome type 1 | 3 | Sep 17, 2025 |
| Coenzyme Q10 deficiency, primary, 1 | 3 | Jan 21, 2020 |
| Coffin-Lowry syndrome | 1 | Dec 20, 2022 |
| Coffin-Siris syndrome 1 | 5 | Aug 10, 2020 |
| Coffin-Siris syndrome 6 | 4 | Oct 19, 2023 |
| Coffin-Siris syndrome 8 | 1 | Jan 21, 2020 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Jan 21, 2020 |
| Cohen syndrome | 2 | Jan 28, 2020 |
| Combined oxidative phosphorylation defect type 14 | 4 | Jan 28, 2020 |
| Combined oxidative phosphorylation defect type 15 | 1 | Dec 18, 2017 |
| Combined oxidative phosphorylation defect type 17 | 4 | Dec 18, 2017 |
| Combined oxidative phosphorylation defect type 20 | 4 | Dec 18, 2017 |
| Combined oxidative phosphorylation defect type 21 | 2 | Sep 17, 2025 |
| Combined oxidative phosphorylation defect type 23 | 4 | Dec 18, 2017 |
| Combined oxidative phosphorylation defect type 24 | 2 | Dec 20, 2022 |
| Combined oxidative phosphorylation defect type 4 | 1 | Dec 18, 2017 |
| Combined oxidative phosphorylation defect type 7 | 1 | Jan 28, 2020 |
| Combined oxidative phosphorylation defect type 8 | 6 | Jan 21, 2020 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Dec 20, 2022 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Dec 18, 2017 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Jan 21, 2020 |
| Complex cortical dysplasia with other brain malformations 5 | 3 | Sep 17, 2025 |
| Complex cortical dysplasia with other brain malformations 6 | 2 | Aug 10, 2020 |
| Cone-rod dystrophy 19 | 1 | Sep 17, 2025 |
| Cone-rod dystrophy 3 | 2 | Sep 17, 2025 |
| Cone-rod dystrophy 6 | 2 | Sep 17, 2025 |
| Congenital adrenal hypoplasia, X-linked | 25 | Oct 20, 2017 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 5 | Sep 17, 2025 |
| Congenital contracture | 1 | Dec 20, 2022 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 3 | Oct 19, 2023 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Dec 18, 2017 |
| Congenital disorder of deglycosylation | 1 | Jan 21, 2020 |
| Congenital disorder of deglycosylation 1 | 2 | Dec 20, 2022 |
| Congenital dyserythropoietic anemia, type I | 2 | Jan 21, 2020 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Aug 10, 2020 |
| Congenital heart defects, multiple types, 2 | 3 | Aug 10, 2020 |
| Congenital heart defects, multiple types, 6 | 1 | Oct 19, 2023 |
| Congenital hyperammonemia, type I | 1 | Dec 18, 2017 |
| Congenital hypothalamic hamartoma syndrome | 2 | Dec 20, 2022 |
| Congenital isolated adrenocorticotropic hormone deficiency | 2 | Jan 21, 2020 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Dec 18, 2017 |
| Congenital multicore myopathy with external ophthalmoplegia | 6 | Oct 19, 2023 |
| Congenital muscular hypertrophy-cerebral syndrome | 2 | Jan 21, 2020 |
| Congenital myasthenic syndrome 10 | 1 | Aug 10, 2020 |
| Congenital myasthenic syndrome 11 | 1 | Sep 17, 2025 |
| Congenital myasthenic syndrome 16 | 2 | Jan 21, 2020 |
| Congenital myasthenic syndrome 19 | 1 | Dec 18, 2017 |
| Congenital myasthenic syndrome 4C | 3 | Dec 20, 2022 |
| Congenital myopathy with fiber type disproportion | 1 | Jan 21, 2020 |
| Congenital myotonia, autosomal dominant form | 1 | Dec 20, 2022 |
| Congenital myotonia, autosomal recessive form | 2 | Jan 21, 2020 |
| Congenital secretory diarrhea, chloride type | 2 | Oct 19, 2023 |
| Congenital stationary night blindness 1E | 1 | Sep 17, 2025 |
| Cornelia de Lange syndrome 4 | 2 | Jan 21, 2020 |
| Cowden syndrome 1 | 4 | Sep 17, 2025 |
| Coxopodopatellar syndrome | 1 | Jan 21, 2020 |
| Craniofrontonasal syndrome | 2 | Sep 17, 2025 |
| Creatine transporter deficiency | 4 | Dec 20, 2022 |
| Crouzon syndrome | 1 | Jan 21, 2020 |
| Cutis laxa, X-linked | 1 | Aug 10, 2020 |
| Cystic fibrosis | 3 | Sep 17, 2025 |
| Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | 1 | Jan 21, 2020 |
| DEGCAGS syndrome | 1 | Oct 19, 2023 |
| DIP2C-associated disorder | 1 | Sep 17, 2025 |
| DNA ligase IV deficiency | 1 | Dec 20, 2022 |
| DNAJC30-associated disorder | 1 | Aug 10, 2020 |
| DOORS syndrome | 2 | Jan 21, 2020 |
| DPAGT1-congenital disorder of glycosylation | 1 | Jan 21, 2020 |
| DYRK1A-related intellectual disability syndrome | 3 | Dec 20, 2022 |
| Danon disease | 3 | Sep 17, 2025 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Sep 17, 2025 |
| Decreased circulating IgM concentration | 1 | Dec 20, 2022 |
| Deeply set eye | 2 | Dec 20, 2022 |
| Deficiency of adenosine deaminase 2 | 3 | Aug 10, 2020 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Jan 21, 2020 |
| Deficiency of ferroxidase | 1 | Sep 17, 2025 |
| Deficiency of transaldolase | 2 | Sep 17, 2025 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Aug 10, 2020 |
| Dejerine-Sottas disease | 2 | Jan 21, 2020 |
| Delayed CNS myelination | 1 | Dec 20, 2022 |
| Delayed speech and language development | 1 | Dec 20, 2022 |
| Dent disease type 1 | 3 | Sep 17, 2025 |
| Desmin-related myofibrillar myopathy | 1 | Jan 21, 2020 |
| Desmosterolosis | 2 | Jan 21, 2020 |
| Developmental and epileptic encephalopathy 6B | 1 | Dec 20, 2022 |
| Developmental and epileptic encephalopathy 89 | 1 | Dec 20, 2022 |
| Developmental and epileptic encephalopathy 92 | 1 | Dec 20, 2022 |
| Developmental and epileptic encephalopathy 93 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy 94 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy 97 | 1 | Dec 20, 2022 |
| Developmental and epileptic encephalopathy, 11 | 7 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 13 | 5 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 14 | 1 | Jan 21, 2020 |
| Developmental and epileptic encephalopathy, 16 | 3 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 17 | 1 | Dec 18, 2017 |
| Developmental and epileptic encephalopathy, 19 | 3 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 2 | 5 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 25 | 3 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 26 | 1 | Dec 20, 2022 |
| Developmental and epileptic encephalopathy, 28 | 1 | Jan 28, 2020 |
| Developmental and epileptic encephalopathy, 29 | 2 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 32 | 1 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 33 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 35 | 2 | Jan 21, 2020 |
| Developmental and epileptic encephalopathy, 37 | 1 | Dec 18, 2017 |
| Developmental and epileptic encephalopathy, 39 | 2 | Jan 28, 2020 |
| Developmental and epileptic encephalopathy, 4 | 6 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 42 | 3 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 43 | 1 | Dec 20, 2022 |
| Developmental and epileptic encephalopathy, 44 | 1 | Dec 18, 2017 |
| Developmental and epileptic encephalopathy, 50 | 3 | Dec 18, 2017 |
| Developmental and epileptic encephalopathy, 51 | 2 | Dec 20, 2022 |
| Developmental and epileptic encephalopathy, 54 | 2 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 55 | 1 | Jan 21, 2020 |
| Developmental and epileptic encephalopathy, 56 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 64 | 4 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 65 | 4 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 69 | 2 | Sep 17, 2025 |
| Developmental and epileptic encephalopathy, 7 | 4 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 70 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 78 | 1 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 8 | 2 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 80 | 2 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 81 | 1 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 84 | 2 | Sep 17, 2025 |
| Developmental delay and seizures with or without movement abnormalities | 2 | Jan 21, 2020 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Jan 28, 2020 |
| Developmental delay with dysmorphic facies and dental anomalies | 3 | Sep 17, 2025 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 2 | Sep 17, 2025 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 | Dec 20, 2022 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Dec 20, 2022 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Dec 20, 2022 |
| Developmental dysplasia of the hip | 1 | Dec 20, 2022 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Sep 17, 2025 |
| Developmental stagnation | 1 | Dec 20, 2022 |
| Diamond-Blackfan anemia 5 | 1 | Jan 21, 2020 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 2 | Dec 20, 2022 |
| Diets-Jongmans syndrome | 2 | Dec 20, 2022 |
| Dilated cardiomyopathy 1A | 1 | Sep 17, 2025 |
| Dilated cardiomyopathy 1D | 2 | Sep 17, 2025 |
| Dilated cardiomyopathy 1FF | 2 | Sep 17, 2025 |
| Dilated cardiomyopathy 1G | 5 | Sep 17, 2025 |
| Dilated cardiomyopathy 1HH | 1 | Sep 17, 2025 |
| Dilated cardiomyopathy 1I | 1 | Sep 17, 2025 |
| Dilated cardiomyopathy 1S | 3 | Oct 19, 2023 |
| Dilated cardiomyopathy 3B | 1 | Dec 18, 2017 |
| Distal arthrogryposis type 5D | 1 | Dec 18, 2017 |
| Distal myopathy, Tateyama type | 1 | Aug 10, 2020 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 2 | Dec 20, 2022 |
| Drash syndrome | 1 | Jan 21, 2020 |
| Duane retraction syndrome 2 | 1 | Sep 17, 2025 |
| Duchenne muscular dystrophy | 2 | Sep 17, 2025 |
| Dyskinesia with orofacial involvement, autosomal dominant | 6 | Sep 17, 2025 |
| Dysphagia | 2 | Dec 20, 2022 |
| Dystonia 12 | 4 | Dec 20, 2022 |
| Dystonia 24 | 4 | Sep 17, 2025 |
| Dystonia 25 | 2 | Sep 17, 2025 |
| Dystonia 28, childhood-onset | 13 | Dec 20, 2022 |
| Dystonia 30 | 7 | Sep 17, 2025 |
| Dystonia 33 | 1 | Dec 20, 2022 |
| Dystonia 5 | 7 | Sep 17, 2025 |
| Dystonia 9 | 1 | Oct 19, 2023 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 | Jan 21, 2020 |
| Dystonic disorder | 1 | Dec 20, 2022 |
| EEG abnormality | 1 | Dec 20, 2022 |
| EEG with spike-wave complexes | 1 | Dec 20, 2022 |
| EMG abnormality | 1 | Dec 20, 2022 |
| ERI1-associated disorder | 1 | Aug 10, 2020 |
| EVC-associated disorder | 1 | Sep 17, 2025 |
| Early-onset generalized limb-onset dystonia | 1 | Dec 20, 2022 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 6 | Aug 10, 2020 |
| Ectodermal dysplasia-syndactyly syndrome 1 | 1 | Jan 21, 2020 |
| Ectopia lentis et pupillae | 1 | Sep 17, 2025 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Jan 21, 2020 |
| Ehlers-Danlos syndrome, type 4 | 2 | Sep 17, 2025 |
| Ellis-van Creveld syndrome | 2 | Dec 18, 2017 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 | Dec 20, 2022 |
| Encephalocraniocutaneous lipomatosis | 1 | Sep 17, 2025 |
| Encephalopathy due to GLUT1 deficiency | 5 | Dec 20, 2022 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 | Dec 20, 2022 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 3 | Sep 17, 2025 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2 | Jan 21, 2020 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | Apr 21, 2015 |
| Enlarged kidney | 1 | Dec 20, 2022 |
| Epilepsy with myoclonic atonic seizures | 3 | Dec 20, 2022 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Aug 10, 2020 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Sep 17, 2025 |
| Epilepsy, familial focal, with variable foci 2 | 2 | Dec 20, 2022 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Dec 20, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Jan 21, 2020 |
| Epiphyseal dysplasia, multiple, 3 | 1 | Dec 18, 2017 |
| Episodic ataxia type 2 | 3 | Oct 19, 2023 |
| Episodic ataxia, type 9 | 1 | Dec 20, 2022 |
| Episodic kinesigenic dyskinesia 1 | 2 | Oct 19, 2023 |
| Erythrokeratodermia variabilis et progressiva 3 | 1 | Jan 21, 2020 |
| Ethylmalonic encephalopathy | 3 | Dec 18, 2017 |
| Exaggerated startle response | 1 | Dec 20, 2022 |
| Exostoses, multiple, type 1 | 1 | Sep 17, 2025 |
| FASN-associated disorder | 1 | Sep 17, 2025 |
| FOXD2-associated disorder | 1 | Sep 17, 2025 |
| FOXG1 disorder | 8 | Sep 17, 2025 |
| Failure to thrive | 4 | Dec 20, 2022 |
| Falls | 1 | Dec 20, 2022 |
| Familial Mediterranean fever | 2 | Oct 19, 2023 |
| Familial Mediterranean fever, autosomal dominant | 1 | Oct 19, 2023 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 112 | Dec 20, 2022 |
| Familial adenomatous polyposis 1 | 1 | Aug 10, 2020 |
| Familial cancer of breast | 1 | Sep 17, 2025 |
| Familial hyperaldosteronism type II | 1 | Dec 22, 2017 |
| Familial hypokalemia-hypomagnesemia | 1 | Dec 18, 2017 |
| Familial infantile myasthenia | 1 | Dec 20, 2022 |
| Familial isolated deficiency of vitamin E | 1 | Sep 17, 2025 |
| Familial juvenile hyperuricemic nephropathy type 1 | 3 | Sep 17, 2025 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 3 | Jan 21, 2020 |
| Fanconi anemia complementation group A | 1 | Dec 18, 2017 |
| Febrile seizures, familial, 8 | 1 | Dec 20, 2022 |
| Feeding difficulties | 5 | Sep 24, 2019 |
| Fetal growth restriction | 1 | Dec 20, 2022 |
| Fibrochondrogenesis 2 | 1 | Jan 21, 2020 |
| Fibromatosis, gingival, 5 | 1 | Jan 21, 2020 |
| Finnish congenital nephrotic syndrome | 2 | Jan 21, 2020 |
| Finnish type amyloidosis | 2 | Jan 21, 2020 |
| Focal dermal hypoplasia | 2 | Sep 17, 2025 |
| Focal segmental glomerulosclerosis 5 | 1 | Jan 21, 2020 |
| Focal segmental glomerulosclerosis 6 | 1 | Jan 21, 2020 |
| Focal segmental glomerulosclerosis 7 | 2 | Oct 19, 2023 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 1 | Dec 20, 2022 |
| Frasier syndrome | 1 | Aug 10, 2020 |
| Freeman-Sheldon syndrome | 1 | Sep 17, 2025 |
| Frontotemporal dementia | 6 | Jan 21, 2020 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 6 | Jan 28, 2020 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 1 | Sep 17, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 | Oct 19, 2023 |
| Fructose-biphosphatase deficiency | 1 | Dec 20, 2022 |
| Fucosidosis | 2 | Dec 18, 2017 |
| Fumarase deficiency | 1 | Dec 20, 2022 |
| Furrowed tongue | 1 | Dec 20, 2022 |
| GABRA4-associated disorder | 1 | Sep 17, 2025 |
| GM1 gangliosidosis type 2 | 2 | Jan 21, 2020 |
| GRACILE syndrome | 1 | Dec 18, 2017 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 15 | Sep 17, 2025 |
| Gabriele de Vries syndrome | 3 | Sep 17, 2025 |
| Galloway-Mowat syndrome 1 | 3 | Dec 20, 2022 |
| Galloway-Mowat syndrome 3 | 1 | Aug 10, 2020 |
| Geleophysic dysplasia 3 | 1 | Aug 10, 2020 |
| Generalized epilepsy with febrile seizures plus, type 2 | 7 | Sep 17, 2025 |
| Generalized epilepsy with febrile seizures plus, type 9 | 2 | Jan 21, 2020 |
| Generalized hypotonia | 5 | Sep 24, 2019 |
| Genitopatellar syndrome | 1 | Jan 21, 2020 |
| Genitourinary and/or brain malformation syndrome | 1 | Aug 10, 2020 |
| Gerstmann-Straussler-Scheinker syndrome | 1 | Sep 17, 2025 |
| Gillespie syndrome | 1 | Jan 21, 2020 |
| Global developmental delay | 10 | Dec 20, 2022 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 2 | Jan 21, 2020 |
| Glomuvenous malformation | 1 | Aug 10, 2020 |
| Glucocorticoid deficiency 1 | 7 | Oct 20, 2017 |
| Glucose-6-phosphate transport defect | 2 | Dec 18, 2017 |
| Glutaric aciduria, type 1 | 3 | Aug 10, 2020 |
| Glycine encephalopathy | 2 | Jan 21, 2020 |
| Glycogen storage disease IXa1 | 2 | Jan 21, 2020 |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 1 | Aug 10, 2020 |
| Glycogen storage disease type III | 2 | Aug 10, 2020 |
| Glycogen storage disease, type II | 3 | Sep 17, 2025 |
| Glycogen storage disease, type V | 1 | Jan 21, 2020 |
| Glycogen storage disease, type VII | 1 | Sep 17, 2025 |
| Gorlin syndrome | 2 | Jan 21, 2020 |
| Grange syndrome | 2 | Aug 10, 2020 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 2 | Dec 18, 2017 |
| Growth delay | 1 | Dec 20, 2022 |
| HIST1H4C-associated disorder | 1 | Aug 10, 2020 |
| HSD10 mitochondrial disease | 2 | Jan 28, 2020 |
| Hajdu-Cheney syndrome | 1 | Sep 17, 2025 |
| Harel-Yoon syndrome | 1 | Aug 10, 2020 |
| Hemangioma | 1 | Dec 20, 2022 |
| Hematuria, benign familial, 1 | 3 | Sep 17, 2025 |
| Hemochromatosis type 1 | 1 | Oct 19, 2023 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | Jan 21, 2020 |
| Hepatomegaly | 1 | Dec 20, 2022 |
| Hereditary factor VIII deficiency disease | 1 | Dec 18, 2017 |
| Hereditary intrinsic factor deficiency | 1 | Jan 21, 2020 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Aug 10, 2020 |
| Hereditary liability to pressure palsies | 1 | Sep 17, 2025 |
| Hereditary motor and sensory neuropathy with optic atrophy | 2 | Jan 21, 2020 |
| Hereditary spastic paraplegia 10 | 1 | Sep 17, 2025 |
| Hereditary spastic paraplegia 11 | 8 | Sep 17, 2025 |
| Hereditary spastic paraplegia 2 | 1 | Dec 18, 2017 |
| Hereditary spastic paraplegia 30 | 4 | Dec 20, 2022 |
| Hereditary spastic paraplegia 31 | 1 | Dec 20, 2022 |
| Hereditary spastic paraplegia 35 | 7 | Oct 19, 2023 |
| Hereditary spastic paraplegia 39 | 4 | Sep 17, 2025 |
| Hereditary spastic paraplegia 3A | 3 | Oct 19, 2023 |
| Hereditary spastic paraplegia 4 | 9 | Sep 17, 2025 |
| Hereditary spastic paraplegia 44 | 1 | Dec 20, 2022 |
| Hereditary spastic paraplegia 52 | 1 | Dec 18, 2017 |
| Hereditary spastic paraplegia 5A | 2 | Jan 21, 2020 |
| Hereditary spastic paraplegia 7 | 6 | Sep 17, 2025 |
| Hereditary spastic paraplegia 75 | 4 | Sep 17, 2025 |
| Heterotaxy, visceral, 7, autosomal | 2 | Aug 10, 2020 |
| Heterotopia, periventricular, X-linked dominant | 2 | Dec 20, 2022 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 1 | Dec 20, 2022 |
| High anterior hairline | 1 | Dec 20, 2022 |
| Holoprosencephaly 3 | 1 | Aug 10, 2020 |
| Holt-Oram syndrome | 2 | Oct 19, 2023 |
| Houge-Janssens syndrome 1 | 4 | Sep 17, 2025 |
| Houge-Janssens syndrome 2 | 2 | Oct 19, 2023 |
| Houge-Janssens syndrome 3 | 3 | Aug 10, 2020 |
| Hurler syndrome | 1 | Dec 20, 2022 |
| Hyper-IgM syndrome type 1 | 1 | Dec 20, 2022 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Jan 28, 2020 |
| Hypercalcemia, infantile, 1 | 3 | Oct 19, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 2 | Sep 17, 2025 |
| Hypercholesterolemia, familial, 1 | 9 | Sep 17, 2025 |
| Hyperekplexia 1 | 3 | Dec 20, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Jan 21, 2020 |
| Hyperkalemic periodic paralysis | 1 | Sep 17, 2025 |
| Hypermetropia | 4 | Dec 20, 2022 |
| Hyperpigmentation with or without hypopigmentation, familial progressive | 1 | Dec 20, 2022 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Aug 10, 2020 |
| Hypertrophic cardiomyopathy | 1 | Dec 20, 2022 |
| Hypertrophic cardiomyopathy 1 | 4 | Sep 17, 2025 |
| Hypertrophic cardiomyopathy 10 | 1 | Sep 17, 2025 |
| Hypertrophic cardiomyopathy 18 | 1 | Sep 17, 2025 |
| Hypertrophic cardiomyopathy 26 | 2 | Sep 17, 2025 |
| Hypertrophic cardiomyopathy 3 | 1 | Sep 17, 2025 |
| Hypertrophic cardiomyopathy 4 | 11 | Sep 17, 2025 |
| Hypertrophic cardiomyopathy 7 | 2 | Sep 17, 2025 |
| Hypertrophic cardiomyopathy 9 | 1 | Sep 17, 2025 |
| Hypoglycemia | 1 | Dec 20, 2022 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 2 | Dec 20, 2022 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 2 | Jan 21, 2020 |
| Hypohidrotic X-linked ectodermal dysplasia | 2 | Dec 20, 2022 |
| Hypokalemic periodic paralysis, type 2 | 2 | Oct 19, 2023 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 2 | Sep 17, 2025 |
| Hypomyelinating leukodystrophy 6 | 3 | Jan 21, 2020 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 2 | Oct 20, 2017 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 4 | Oct 20, 2017 |
| Hypopituitarism | 1 | Dec 20, 2022 |
| Hypothyroidism | 1 | Dec 20, 2022 |
| Hypotonia | 2 | Dec 20, 2022 |
| Hypotonia, ataxia, and delayed development syndrome | 2 | Oct 19, 2023 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | Dec 20, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Jan 21, 2020 |
| IFT140-associated disorder | 1 | Sep 17, 2025 |
| Ichthyosis vulgaris | 5 | Sep 17, 2025 |
| Ichthyosis, congenital, autosomal recessive 13 | 3 | Jan 21, 2020 |
| Imagawa-Matsumoto syndrome | 1 | Aug 10, 2020 |
| Immunodeficiency 67 | 1 | Dec 20, 2022 |
| Immunodeficiency, common variable, 10 | 1 | Jan 21, 2020 |
| Immunoglobulin A deficiency 2 | 1 | Aug 10, 2020 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Jan 21, 2020 |
| Imperforate anus | 1 | Dec 20, 2022 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 3 | Sep 17, 2025 |
| Infantile neuroaxonal dystrophy | 3 | Jan 21, 2020 |
| Infantile onset spinocerebellar ataxia | 2 | Dec 18, 2017 |
| Infantile spasms | 5 | Sep 24, 2019 |
| Infantile-onset ascending hereditary spastic paralysis | 3 | Jan 21, 2020 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 | Jan 21, 2020 |
| Inguinal hernia | 1 | Dec 20, 2022 |
| Intellectual developmental disorder 62 | 2 | Dec 20, 2022 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 | Jan 21, 2020 |
| Intellectual developmental disorder with autism and macrocephaly | 5 | Sep 17, 2025 |
| Intellectual developmental disorder with autism and speech delay | 3 | Dec 20, 2022 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 4 | Sep 17, 2025 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Aug 10, 2020 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | Dec 20, 2022 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Jan 21, 2020 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 3 | Dec 20, 2022 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Jan 21, 2020 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Aug 10, 2020 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 5 | Dec 20, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 2 | Oct 19, 2023 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Oct 19, 2023 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Oct 19, 2023 |
| Intellectual disability | 2 | Dec 20, 2022 |
| Intellectual disability, X-linked 1 | 1 | Sep 17, 2025 |
| Intellectual disability, X-linked 102 | 5 | Dec 20, 2022 |
| Intellectual disability, X-linked 106 | 1 | Dec 20, 2022 |
| Intellectual disability, X-linked 107 | 1 | Aug 10, 2020 |
| Intellectual disability, X-linked 21 | 1 | Jan 28, 2020 |
| Intellectual disability, X-linked 49 | 2 | Aug 5, 2025 |
| Intellectual disability, X-linked 99 | 2 | Sep 17, 2025 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Dec 18, 2017 |
| Intellectual disability, X-linked syndromic, Turner type | 2 | Jan 21, 2020 |
| Intellectual disability, X-linked, syndromic, Bain type | 2 | Jan 21, 2020 |
| Intellectual disability, autosomal dominant 1 | 3 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 13 | 2 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 15 | 1 | Dec 18, 2017 |
| Intellectual disability, autosomal dominant 16 | 3 | Jan 21, 2020 |
| Intellectual disability, autosomal dominant 22 | 2 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 24 | 1 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 29 | 3 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 30 | 1 | Jan 28, 2020 |
| Intellectual disability, autosomal dominant 40 | 1 | Jan 21, 2020 |
| Intellectual disability, autosomal dominant 41 | 3 | Dec 20, 2022 |
| Intellectual disability, autosomal dominant 42 | 3 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 43 | 1 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 5 | 4 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 50 | 2 | Dec 20, 2022 |
| Intellectual disability, autosomal dominant 53 | 2 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 54 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 55, with seizures | 2 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 56 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 57 | 1 | Jan 21, 2020 |
| Intellectual disability, autosomal dominant 58 | 1 | Jan 21, 2020 |
| Intellectual disability, autosomal dominant 6 | 4 | Sep 17, 2025 |
| Intellectual disability, autosomal dominant 9 | 2 | Sep 17, 2025 |
| Intellectual disability, autosomal recessive 45 | 1 | Dec 20, 2022 |
| Intellectual disability, autosomal recessive 53 | 2 | Jan 21, 2020 |
| Intellectual disability, autosomal recessive 57 | 1 | Sep 17, 2025 |
| Intellectual disability, autosomal recessive 65 | 1 | Oct 19, 2023 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 4 | Sep 17, 2025 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Dec 20, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Sep 17, 2025 |
| Interstitial pneumonitis | 5 | Jun 26, 2018 |
| Intracranial hemorrhage | 1 | Dec 20, 2022 |
| Isolated growth hormone deficiency, type 4 | 1 | Jan 21, 2020 |
| Joubert syndrome 17 | 2 | Aug 10, 2020 |
| Joubert syndrome 23 | 1 | Jan 21, 2020 |
| Joubert syndrome 3 | 1 | Oct 19, 2023 |
| Joubert syndrome 33 | 2 | Jan 21, 2020 |
| Joubert syndrome 5 | 2 | Jan 21, 2020 |
| Junctional epidermolysis bullosa, non-Herlitz type | 2 | Dec 20, 2022 |
| Juvenile onset Parkinson disease 19A | 1 | Aug 10, 2020 |
| Juvenile primary lateral sclerosis | 2 | Jan 21, 2020 |
| KBG syndrome | 10 | Sep 17, 2025 |
| KCNQ3-associated disorder | 1 | Sep 17, 2025 |
| Kabuki syndrome 1 | 10 | Dec 20, 2022 |
| Kabuki syndrome 2 | 2 | Aug 10, 2020 |
| Kartagener syndrome | 2 | Jan 21, 2020 |
| Keratosis follicularis | 1 | Jan 21, 2020 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Oct 19, 2023 |
| Kleefstra syndrome 1 | 3 | Sep 17, 2025 |
| Kleefstra syndrome 2 | 2 | Sep 17, 2025 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Jan 21, 2020 |
| Kohlschutter-Tonz syndrome-like | 1 | Sep 17, 2025 |
| Koolen-de Vries syndrome | 1 | Sep 17, 2025 |
| LRRC7-associated disorder | 1 | Sep 17, 2025 |
| Lactic acidosis | 3 | Mar 5, 2019 |
| Lamb-Shaffer syndrome | 1 | Jan 21, 2020 |
| Lambdoidal craniosynostosis | 1 | Aug 10, 2020 |
| Landau-Kleffner syndrome | 3 | Dec 20, 2022 |
| Laron-type isolated somatotropin defect | 1 | Jan 21, 2020 |
| Larsen syndrome | 1 | Dec 20, 2022 |
| Leber congenital amaurosis 4 | 1 | Oct 19, 2023 |
| Left ventricular noncompaction 10 | 2 | Sep 17, 2025 |
| Leigh syndrome | 5 | Jan 21, 2020 |
| Lessel-Kreienkamp syndrome | 1 | Sep 17, 2025 |
| Lethal congenital contracture syndrome 11 | 2 | Jan 21, 2020 |
| Leukocyte adhesion deficiency type II | 1 | Aug 10, 2020 |
| Leukodystrophy, hypomyelinating, 22 | 1 | Dec 20, 2022 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 6 | Oct 19, 2023 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Sep 17, 2025 |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 | Jan 28, 2020 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 | Dec 20, 2022 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2 | Dec 18, 2017 |
| Li-Campeau syndrome | 1 | Dec 20, 2022 |
| Liang-Wang syndrome | 2 | Sep 17, 2025 |
| Lipid proteinosis | 2 | Dec 20, 2022 |
| Lissencephaly due to LIS1 mutation | 1 | Sep 17, 2025 |
| Lissencephaly due to TUBA1A mutation | 2 | Sep 17, 2025 |
| Loeys-Dietz syndrome 1 | 3 | Sep 17, 2025 |
| Loeys-Dietz syndrome 2 | 3 | Sep 17, 2025 |
| Loeys-Dietz syndrome 4 | 1 | Sep 17, 2025 |
| Long QT syndrome 1 | 1 | Sep 17, 2025 |
| Long QT syndrome 15 | 2 | Jan 21, 2020 |
| Long QT syndrome 2 | 4 | Sep 17, 2025 |
| Luscan-Lumish syndrome | 1 | Aug 10, 2020 |
| Lynch syndrome 1 | 1 | Sep 17, 2025 |
| Lynch syndrome 5 | 1 | Sep 17, 2025 |
| MANEAL-associated disorder | 1 | Aug 10, 2020 |
| MARK2-associated disorder | 1 | Sep 17, 2025 |
| MASA syndrome | 1 | Sep 17, 2025 |
| MED13-associated disorder | 1 | Sep 17, 2025 |
| MEGF10-related myopathy | 1 | Oct 19, 2023 |
| MEHMO syndrome | 1 | Dec 18, 2017 |
| MOGS-congenital disorder of glycosylation | 2 | Jan 21, 2020 |
| MPDU1-congenital disorder of glycosylation | 1 | Dec 18, 2017 |
| MYH7-related skeletal myopathy | 2 | Dec 18, 2017 |
| Macrocephaly | 1 | Dec 18, 2017 |
| Macrocephaly-autism syndrome | 3 | Sep 17, 2025 |
| Macrocephaly-developmental delay syndrome | 1 | Jan 21, 2020 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Jan 21, 2020 |
| Macroglossia | 1 | Dec 20, 2022 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Dec 18, 2017 |
| Malan overgrowth syndrome | 3 | Sep 17, 2025 |
| Maleylacetoacetate isomerase deficiency | 1 | Jan 21, 2020 |
| Malignant hyperthermia, susceptibility to, 1 | 4 | Sep 17, 2025 |
| Malignant hyperthermia, susceptibility to, 5 | 2 | Sep 17, 2025 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Dec 20, 2022 |
| Marfan syndrome | 13 | Sep 17, 2025 |
| Mast syndrome | 1 | Sep 17, 2025 |
| Maturity-onset diabetes of the young type 1 | 1 | Oct 19, 2023 |
| Maturity-onset diabetes of the young type 2 | 3 | Sep 17, 2025 |
| Maturity-onset diabetes of the young type 3 | 1 | Oct 19, 2023 |
| Meckel syndrome, type 3 | 2 | Jan 21, 2020 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Jan 21, 2020 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 2 | Dec 20, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Aug 10, 2020 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Jan 21, 2020 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Dec 20, 2022 |
| Melanoma-pancreatic cancer syndrome | 1 | Sep 17, 2025 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 2 | Aug 10, 2020 |
| Metachromatic leukodystrophy | 6 | Dec 20, 2022 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 1 | Sep 17, 2025 |
| Metatropic dysplasia | 1 | Sep 17, 2025 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 2 | Aug 10, 2020 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 4 | Dec 20, 2022 |
| Methylmalonic aciduria, cblB type | 1 | Jan 21, 2020 |
| Mevalonic aciduria | 3 | Aug 10, 2020 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 | Dec 20, 2022 |
| Microcephaly | 8 | Dec 20, 2022 |
| Microcephaly 24, primary, autosomal recessive | 1 | Jan 21, 2020 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 3 | Dec 20, 2022 |
| Microcephaly, seizures, and developmental delay | 2 | Jan 21, 2020 |
| Microcephaly, short stature, and limb abnormalities | 2 | Dec 18, 2017 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 4 | Dec 18, 2017 |
| Microcytic anemia | 1 | Dec 20, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 4 | Sep 17, 2025 |
| Microphthalmia | 2 | Dec 20, 2022 |
| Microphthalmia, syndromic 12 | 1 | Dec 20, 2022 |
| Microretrognathia | 1 | Dec 20, 2022 |
| Microtia | 1 | Dec 20, 2022 |
| Migraine, familial hemiplegic, 1 | 1 | Dec 20, 2022 |
| Migraine, familial hemiplegic, 2 | 1 | Dec 20, 2022 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Jan 21, 2020 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Dec 20, 2022 |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 1 | Dec 18, 2017 |
| Mitochondrial DNA depletion syndrome 13 | 7 | Aug 10, 2020 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2 | Dec 18, 2017 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Dec 20, 2022 |
| Mitochondrial DNA depletion syndrome 9 | 1 | Sep 17, 2025 |
| Mitochondrial complex I deficiency | 2 | Dec 18, 2017 |
| Mitochondrial complex I deficiency, nuclear type 2 | 1 | Dec 20, 2022 |
| Mitochondrial complex I deficiency, nuclear type 30 | 1 | Dec 20, 2022 |
| Mitochondrial complex I deficiency, nuclear type 31 | 1 | Jan 21, 2020 |
| Mitochondrial complex I deficiency, nuclear type 4 | 2 | Aug 10, 2020 |
| Mitochondrial complex I deficiency, nuclear type 5 | 1 | Dec 20, 2022 |
| Mitochondrial complex III deficiency nuclear type 2 | 1 | Aug 10, 2020 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 5 | Sep 17, 2025 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 3 | Dec 20, 2022 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 9 | Dec 20, 2022 |
| Mitochondrial pyruvate carrier deficiency | 1 | Dec 18, 2017 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 9 | Dec 20, 2022 |
| Miyoshi muscular dystrophy 1 | 2 | Dec 20, 2022 |
| Miyoshi muscular dystrophy 3 | 4 | Oct 19, 2023 |
| Motor delay | 2 | Dec 20, 2022 |
| Mowat-Wilson syndrome | 6 | Sep 17, 2025 |
| Mullegama-Klein-Martinez syndrome | 3 | Dec 20, 2022 |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 | Jan 21, 2020 |
| Multicystic kidney dysplasia | 1 | Dec 20, 2022 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Dec 18, 2017 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 7 | Dec 20, 2022 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | Jan 21, 2020 |
| Multiple endocrine neoplasia, type 1 | 1 | Sep 17, 2025 |
| Multiple epiphyseal dysplasia type 1 | 2 | Sep 17, 2025 |
| Multiple mitochondrial dysfunctions syndrome 1 | 2 | Dec 18, 2017 |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 | Sep 17, 2025 |
| Multiple mitochondrial dysfunctions syndrome 4 | 1 | Dec 18, 2017 |
| Multiple mitochondrial dysfunctions syndrome 6 | 1 | Oct 19, 2023 |
| Multiple sulfatase deficiency | 1 | Dec 18, 2017 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Aug 10, 2020 |
| Muscle spasm | 1 | Dec 20, 2022 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Dec 20, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Dec 18, 2017 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 | Dec 18, 2017 |
| Myeloid maturation arrest | 1 | Dec 20, 2022 |
| Myhre syndrome | 2 | Dec 20, 2022 |
| Myoclonic dystonia 11 | 18 | Sep 17, 2025 |
| Myofibrillar myopathy 3 | 1 | Jan 21, 2020 |
| Myofibrillar myopathy 8 | 1 | Sep 17, 2025 |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 | Jan 21, 2020 |
| Myopathy, congenital, progressive, with scoliosis | 1 | Aug 10, 2020 |
| Myopia 26, X-linked, female-limited | 1 | Sep 17, 2025 |
| Nail-patella syndrome | 4 | Aug 10, 2020 |
| Nemaline myopathy 10 | 1 | Jan 21, 2020 |
| Nemaline myopathy 2 | 6 | Jan 28, 2020 |
| Nemaline myopathy 8 | 1 | Jan 21, 2020 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 3 | Jan 21, 2020 |
| Neonatal-onset encephalopathy with rigidity and seizures | 2 | Dec 20, 2022 |
| Nephrocalcinosis | 1 | Dec 20, 2022 |
| Nephrotic syndrome, type 13 | 1 | Jan 21, 2020 |
| Nephrotic syndrome, type 2 | 6 | Oct 19, 2023 |
| Nephrotic syndrome, type 24 | 1 | Dec 20, 2022 |
| Nephrotic syndrome, type 3 | 1 | Jan 28, 2020 |
| Nephrotic syndrome, type 4 | 1 | Oct 19, 2023 |
| Nephrotic syndrome, type 9 | 1 | Jan 21, 2020 |
| Neurodegeneration with brain iron accumulation 2B | 2 | Jan 21, 2020 |
| Neurodegeneration with brain iron accumulation 4 | 5 | Sep 17, 2025 |
| Neurodegeneration with brain iron accumulation 5 | 4 | Aug 10, 2020 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2 | Jan 21, 2020 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 1 | Sep 17, 2025 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2 | Jan 21, 2020 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 1 | Dec 18, 2017 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 4 | Jan 21, 2020 |
| Neurodevelopmental disorder with involuntary movements | 3 | Sep 17, 2025 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 3 | Oct 19, 2023 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 2 | Aug 10, 2020 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 2 | Oct 19, 2023 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 3 | Aug 10, 2020 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Sep 17, 2025 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2 | Sep 17, 2025 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Dec 20, 2022 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | Sep 17, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 2 | Jan 21, 2020 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 2 | Aug 10, 2020 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 1 | Dec 20, 2022 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Jan 21, 2020 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder with spasticity and poor growth | 2 | Sep 17, 2025 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | Sep 17, 2025 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 7 | Sep 17, 2025 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Dec 20, 2022 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 2 | Dec 20, 2022 |
| Neuroferritinopathy | 1 | Dec 20, 2022 |
| Neurofibromatosis, type 1 | 8 | Sep 17, 2025 |
| Neurofibromatosis, type 2 | 1 | Dec 20, 2022 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Sep 17, 2025 |
| Neuronal ceroid lipofuscinosis 13 | 1 | Jan 21, 2020 |
| Neuronal ceroid lipofuscinosis 2 | 2 | Dec 18, 2017 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Jan 28, 2020 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Dec 18, 2017 |
| Neuronopathy, distal hereditary motor, type 5C | 1 | Dec 20, 2022 |
| Neuroocular syndrome 1 | 2 | Sep 17, 2025 |
| Neuropathy, congenital hypomyelinating, 3 | 2 | Sep 17, 2025 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Dec 20, 2022 |
| Neuropathy, hereditary motor and sensory, type 6B | 1 | Dec 18, 2017 |
| Nicolaides-Baraitser syndrome | 2 | Sep 17, 2025 |
| Niemann-Pick disease, type C1 | 7 | Sep 17, 2025 |
| Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus | 8 | Jul 26, 2019 |
| Noncompaction cardiomyopathy | 1 | Dec 20, 2022 |
| Noonan syndrome 1 | 11 | Sep 17, 2025 |
| Noonan syndrome 13 | 1 | Dec 20, 2022 |
| Noonan syndrome 3 | 1 | Dec 20, 2022 |
| Noonan syndrome 4 | 3 | Sep 17, 2025 |
| Noonan syndrome 5 | 2 | Aug 10, 2020 |
| Noonan syndrome 7 | 1 | Dec 20, 2022 |
| Noonan syndrome 8 | 2 | Jan 21, 2020 |
| Nystagmus | 3 | Dec 20, 2022 |
| O'Donnell-Luria-Rodan syndrome | 1 | Dec 20, 2022 |
| Obesity due to prohormone convertase I deficiency | 2 | Jan 21, 2020 |
| Occult macular dystrophy | 1 | Sep 17, 2025 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Dec 18, 2017 |
| Oculodentodigital dysplasia | 1 | Sep 17, 2025 |
| Oculofaciocardiodental syndrome | 2 | Oct 19, 2023 |
| Oculopharyngeal muscular dystrophy | 1 | Jan 21, 2020 |
| Odonto-onycho-dermal dysplasia | 1 | Jan 21, 2020 |
| Ogden syndrome | 1 | Dec 18, 2017 |
| Okur-Chung neurodevelopmental syndrome | 1 | Aug 10, 2020 |
| Opsoclonus | 2 | Dec 20, 2022 |
| Optic atrophy | 1 | Dec 20, 2022 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 | Jan 21, 2020 |
| Optic atrophy 13 with retinal and foveal abnormalities | 1 | Sep 17, 2025 |
| Ornithine aminotransferase deficiency | 1 | Jan 21, 2020 |
| Osteogenesis imperfecta type I | 1 | Jan 21, 2020 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Jan 21, 2020 |
| Oto-palato-digital syndrome, type I | 1 | Jan 21, 2020 |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 | Sep 17, 2025 |
| POU3F2-associated disorder | 1 | Aug 10, 2020 |
| PRKCE-associated disorder | 1 | Sep 17, 2025 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 6 | Sep 17, 2025 |
| Pachyonychia congenita 1 | 1 | Dec 18, 2017 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Sep 17, 2025 |
| Paramyotonia congenita of Von Eulenburg | 2 | Aug 10, 2020 |
| Parkinson disease, late-onset | 7 | Oct 19, 2023 |
| Parkinsonian disorder | 1 | Dec 20, 2022 |
| Parkinsonian-pyramidal syndrome | 2 | Dec 18, 2017 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Oct 19, 2023 |
| Patent ductus arteriosus | 1 | Dec 20, 2022 |
| Patent foramen ovale | 1 | Dec 20, 2022 |
| Patterned macular dystrophy 1 | 1 | Sep 17, 2025 |
| Periventricular nodular heterotopia 8 | 1 | Dec 20, 2022 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 3 | Dec 20, 2022 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 3 | Oct 19, 2023 |
| Perry syndrome | 1 | Dec 20, 2022 |
| Persistent patent ductus venosus | 1 | Dec 20, 2022 |
| Pes planus | 1 | Dec 20, 2022 |
| Phelan-McDermid syndrome | 2 | Sep 17, 2025 |
| Phenylketonuria | 1 | Dec 20, 2022 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 2 | Jan 21, 2020 |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 | Jan 21, 2020 |
| Pierpont syndrome | 1 | Sep 17, 2025 |
| Pigmentary pallidal degeneration | 5 | Dec 20, 2022 |
| Pigmented nodular adrenocortical disease, primary, 4 | 2 | Dec 10, 2014 |
| Pitt-Hopkins syndrome | 3 | Jan 21, 2020 |
| Pituitary dependent hypercortisolism | 5 | Nov 18, 2014 |
| Poirier-Bienvenu neurodevelopmental syndrome | 4 | Sep 17, 2025 |
| Polycystic kidney disease 2 | 1 | Sep 17, 2025 |
| Polycystic kidney disease 4 | 2 | Sep 17, 2025 |
| Polycystic kidney disease, adult type | 5 | Sep 17, 2025 |
| Polydactyly, postaxial, type a7 | 1 | Sep 17, 2025 |
| Polyglucosan body myopathy type 1 | 1 | Jan 21, 2020 |
| Polymicrogyria | 1 | Dec 20, 2022 |
| Pontocerebellar hypoplasia type 1B | 2 | Dec 20, 2022 |
| Pontocerebellar hypoplasia type 2A | 1 | Sep 17, 2025 |
| Pontocerebellar hypoplasia type 6 | 3 | Jan 21, 2020 |
| Pontocerebellar hypoplasia type 9 | 1 | Dec 18, 2017 |
| Pontocerebellar hypoplasia, type 1D | 1 | Dec 20, 2022 |
| Primary ciliary dyskinesia 7 | 2 | Jan 21, 2020 |
| Progeroid facial appearance | 2 | Dec 20, 2022 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 | Dec 18, 2017 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 4 | Jan 21, 2020 |
| Progressive myoclonic epilepsy type 7 | 1 | Dec 18, 2017 |
| Progressive myositis ossificans | 1 | Jan 21, 2020 |
| Progressive retinal dystrophy due to retinol transport defect | 1 | Aug 10, 2020 |
| Progressive sclerosing poliodystrophy | 4 | Sep 17, 2025 |
| Prolidase deficiency | 2 | Jan 21, 2020 |
| Proliferative vitreoretinopathy | 1 | Aug 10, 2020 |
| Propionic acidemia | 3 | Mar 5, 2019 |
| Proximal lower limb amyotrophy | 1 | Dec 20, 2022 |
| Proximal muscle weakness | 1 | Dec 20, 2022 |
| Proximal myopathy with extrapyramidal signs | 1 | Sep 17, 2025 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 1 | Jan 21, 2020 |
| Psychomotor retardation | 2 | Dec 20, 2022 |
| Pubertal developmental failure in females | 1 | Dec 20, 2022 |
| Pulmonary alveolar proteinosis | 3 | Dec 2, 2014 |
| Pulmonary valve stenosis | 1 | Dec 20, 2022 |
| Pyridoxine-dependent epilepsy | 2 | Sep 17, 2025 |
| Pyruvate carboxylase deficiency | 1 | Aug 10, 2020 |
| Pyruvate dehydrogenase E1-alpha deficiency | 12 | Oct 19, 2023 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Dec 18, 2017 |
| RFT1-congenital disorder of glycosylation | 1 | Jan 21, 2020 |
| Rapp-Hodgkin syndrome | 1 | Jan 21, 2020 |
| Recurrent infections | 1 | Dec 20, 2022 |
| Reduced left ventricular ejection fraction | 1 | Dec 20, 2022 |
| Relative macrocephaly | 1 | Dec 20, 2022 |
| Renal coloboma syndrome | 2 | Oct 19, 2023 |
| Renal cysts and diabetes syndrome | 3 | Sep 17, 2025 |
| Renal dysplasia | 1 | Dec 20, 2022 |
| Renal hypodysplasia/aplasia 1 | 1 | Dec 20, 2022 |
| Renal tubular dysgenesis | 1 | Jan 21, 2020 |
| Renpenning syndrome | 1 | Jan 21, 2020 |
| Respiratory distress | 5 | Sep 24, 2019 |
| Retinitis pigmentosa 1 | 1 | Oct 19, 2023 |
| Retinitis pigmentosa 2 | 1 | Oct 19, 2023 |
| Retinitis pigmentosa 66 | 2 | Dec 20, 2022 |
| Retinitis pigmentosa 80 | 2 | Oct 19, 2023 |
| Retractile testis | 1 | Dec 20, 2022 |
| Retrognathia | 1 | Dec 20, 2022 |
| Rett syndrome | 14 | Sep 17, 2025 |
| Roifman syndrome | 1 | Oct 19, 2023 |
| Rothmund-Thomson syndrome type 3 | 1 | Aug 10, 2020 |
| SENP7-associated disorder | 1 | Sep 17, 2025 |
| SETD1B-associated disorder | 1 | Aug 10, 2020 |
| SHANK1-associated disorder | 1 | Sep 17, 2025 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Sep 17, 2025 |
| SNF8-associated disease | 9 | Sep 17, 2025 |
| SPATA5L1-associated disorder | 7 | Aug 10, 2020 |
| SSR4-congenital disorder of glycosylation | 1 | Aug 10, 2020 |
| Saldino-Mainzer syndrome | 2 | Jan 28, 2020 |
| Sarcotubular myopathy | 1 | Oct 19, 2023 |
| Schuurs-Hoeijmakers syndrome | 1 | Oct 19, 2023 |
| Seizure | 6 | Dec 20, 2022 |
| Seizures, benign familial infantile, 2 | 1 | Sep 17, 2025 |
| Seizures, benign familial infantile, 5 | 1 | Sep 17, 2025 |
| Seizures, benign familial neonatal, 1 | 2 | Sep 17, 2025 |
| Sengers syndrome | 2 | Dec 18, 2017 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 4 | Sep 17, 2025 |
| Severe X-linked myotubular myopathy | 3 | Sep 17, 2025 |
| Severe early-childhood-onset retinal dystrophy | 2 | Oct 19, 2023 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 6 | Oct 19, 2023 |
| Severe global developmental delay | 3 | Dec 20, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 5 | Sep 17, 2025 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Jan 21, 2020 |
| Severe myoclonic epilepsy in infancy | 6 | Sep 17, 2025 |
| Short stature | 2 | Dec 20, 2022 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 1 | Jan 28, 2020 |
| Shwachman-Diamond syndrome 1 | 3 | Dec 20, 2022 |
| Sick sinus syndrome 1 | 1 | Sep 17, 2025 |
| Siddiqi syndrome | 1 | Aug 10, 2020 |
| Sifrim-Hitz-Weiss syndrome | 2 | Sep 17, 2025 |
| Smith-Lemli-Opitz syndrome | 3 | Sep 17, 2025 |
| Smith-Magenis syndrome | 1 | Jan 21, 2020 |
| Snijders Blok-Campeau syndrome | 6 | Oct 19, 2023 |
| Snijders blok-fisher syndrome | 2 | Aug 10, 2020 |
| Sotos syndrome | 4 | Oct 19, 2023 |
| Spastic paraplegia 82, autosomal recessive | 1 | Aug 10, 2020 |
| Spastic paraplegia 83, autosomal recessive | 1 | Dec 20, 2022 |
| Speech apraxia | 1 | Dec 20, 2022 |
| Spermatogenic failure 31 | 1 | Jan 21, 2020 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Dec 20, 2022 |
| Spinocerebellar ataxia 48 | 3 | Sep 17, 2025 |
| Spinocerebellar ataxia type 19/22 | 1 | Aug 10, 2020 |
| Spinocerebellar ataxia type 21 | 1 | Dec 20, 2022 |
| Spinocerebellar ataxia type 27 | 1 | Aug 10, 2020 |
| Spinocerebellar ataxia type 28 | 2 | Jan 21, 2020 |
| Spinocerebellar ataxia type 29 | 1 | Sep 17, 2025 |
| Spinocerebellar ataxia type 5 | 2 | Jan 21, 2020 |
| Spinocerebellar ataxia, autosomal recessive 31 | 1 | Sep 17, 2025 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Jan 21, 2020 |
| Spondylocarpotarsal synostosis syndrome | 2 | Jan 21, 2020 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 1 | Jan 21, 2020 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 | Aug 10, 2020 |
| Spondyloepiphyseal dysplasia, kondo-fu type | 2 | Aug 10, 2020 |
| Spondyloperipheral dysplasia | 1 | Jan 21, 2020 |
| Stankiewicz-Isidor syndrome | 1 | Jan 21, 2020 |
| Steel syndrome | 2 | Jan 21, 2020 |
| Stenosis of the external auditory canal | 1 | Dec 20, 2022 |
| Stereotypic movement disorder | 2 | Dec 20, 2022 |
| Sterol carrier protein 2 deficiency | 1 | Dec 18, 2017 |
| Stickler syndrome type 1 | 3 | Sep 17, 2025 |
| Stickler syndrome type 2 | 1 | Dec 20, 2022 |
| Strabismus | 2 | Dec 20, 2022 |
| Striatal degeneration, autosomal dominant 2 | 1 | Jan 21, 2020 |
| Stroke disorder | 1 | Dec 20, 2022 |
| Stüve-Wiedemann syndrome 1 | 1 | Dec 20, 2022 |
| Sucrase-isomaltase deficiency | 1 | Dec 20, 2022 |
| Syndromic X-linked intellectual disability 14 | 3 | Sep 17, 2025 |
| Syndromic X-linked intellectual disability 34 | 1 | Jan 21, 2020 |
| Syndromic X-linked intellectual disability 94 | 1 | Oct 19, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Dec 20, 2022 |
| TCF7L2-associated disorder | 1 | Sep 17, 2025 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 4 | Oct 19, 2023 |
| TNNI3-associated disorder | 1 | Sep 17, 2025 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Dec 20, 2022 |
| Tay-Sachs disease | 4 | Dec 20, 2022 |
| Tay-Sachs disease, variant AB | 1 | Oct 19, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Sep 17, 2025 |
| Tetralogy of Fallot | 1 | Dec 18, 2017 |
| Thanatophoric dysplasia type 1 | 1 | Aug 10, 2020 |
| Thrombocytopenia | 1 | Dec 20, 2022 |
| Thrombocytopenia 5 | 1 | Dec 20, 2022 |
| Thyroid dyshormonogenesis 6 | 1 | Jan 21, 2020 |
| Tibial muscular dystrophy | 1 | Aug 10, 2020 |
| Tolchin-Le Caignec syndrome | 2 | Sep 17, 2025 |
| Torsion dystonia 6 | 5 | Sep 17, 2025 |
| Townes-Brocks syndrome 1 | 2 | Aug 10, 2020 |
| Treacher Collins syndrome 1 | 1 | Jan 21, 2020 |
| Trichiasis | 2 | Dec 20, 2022 |
| Trichorhinophalangeal dysplasia type I | 2 | Dec 20, 2022 |
| Triglyceride storage disease with ichthyosis | 1 | Sep 17, 2025 |
| Tuberous sclerosis 1 | 1 | Jan 21, 2020 |
| Tuberous sclerosis 2 | 4 | Sep 17, 2025 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 3 | Oct 20, 2017 |
| Tyrosinemia type I | 1 | Sep 17, 2025 |
| Upshaw-Schulman syndrome | 1 | Oct 19, 2023 |
| Usher syndrome type 2A | 1 | Sep 17, 2025 |
| Usmani-Riazuddin syndrome, autosomal dominant | 3 | Sep 17, 2025 |
| VPS16-associated disorder | 1 | Aug 10, 2020 |
| Vanishing white matter disease | 2 | Jan 21, 2020 |
| Vascular dilatation | 5 | Jun 26, 2018 |
| Ventricular septal defect | 1 | Dec 20, 2022 |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 | Dec 20, 2022 |
| Vici syndrome | 3 | Dec 18, 2017 |
| Visceral myopathy 1 | 1 | Jan 21, 2020 |
| Vissers-Bodmer syndrome | 2 | Dec 20, 2022 |
| Vitelliform macular dystrophy 2 | 2 | Sep 17, 2025 |
| Waardenburg syndrome type 1 | 1 | Sep 17, 2025 |
| Werner syndrome | 1 | Jan 21, 2020 |
| Wieacker-Wolff syndrome | 1 | Jan 21, 2020 |
| Wieacker-Wolff syndrome, female-restricted | 1 | Dec 20, 2022 |
| Wiedemann-Steiner syndrome | 4 | Dec 20, 2022 |
| Wilson disease | 2 | Jan 21, 2020 |
| Wolcott-Rallison dysplasia | 1 | Jan 21, 2020 |
| Wolfram syndrome 1 | 2 | Jan 21, 2020 |
| Wolfram-like syndrome | 1 | Jan 21, 2020 |
| X-linked Alport syndrome | 52 | Sep 17, 2025 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Jan 21, 2020 |
| X-linked chondrodysplasia punctata 1 | 1 | Oct 19, 2023 |
| X-linked hydrocephalus syndrome | 1 | Aug 10, 2020 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Sep 17, 2025 |
| X-linked intellectual disability Cabezas type | 1 | Dec 20, 2022 |
| X-linked intellectual disability with marfanoid habitus | 1 | Dec 20, 2022 |
| X-linked intellectual disability, Cantagrel type | 1 | Aug 10, 2020 |
| X-linked intellectual disability, van Esch type | 1 | Jan 21, 2020 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Sep 17, 2025 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Jan 21, 2020 |
| X-linked severe combined immunodeficiency | 1 | Sep 17, 2025 |
| Xeroderma pigmentosum group A | 1 | Oct 19, 2023 |
| Xeroderma pigmentosum, group F | 3 | Sep 17, 2025 |
| ZFHX3-associated disorder | 1 | Sep 17, 2025 |
| ZMYM2-associated disorder | 1 | Sep 17, 2025 |
| ZTTK syndrome | 1 | Jan 21, 2020 |
| Zimmermann-Laband syndrome 1 | 1 | Dec 18, 2017 |
| beta Thalassemia | 1 | Aug 10, 2020 |
| von Willebrand disease type 3 | 1 | Jan 6, 2025 |
