| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Mar 14, 2024 |
| 46,XY sex reversal 6 | 1 | May 6, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Apr 10, 2024 |
| ALG9 congenital disorder of glycosylation | 1 | Apr 4, 2024 |
| Aarskog syndrome | 3 | May 6, 2024 |
| Achondrogenesis type II | 1 | May 16, 2024 |
| Acrodysostosis 2 with or without hormone resistance | 1 | May 16, 2024 |
| Adams-Oliver syndrome 5 | 1 | Apr 10, 2024 |
| Adams-Oliver syndrome 6 | 1 | Apr 4, 2024 |
| Adrenoleukodystrophy | 1 | May 16, 2024 |
| Adult hypophosphatasia | 1 | May 6, 2024 |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 | Apr 4, 2024 |
| Aicardi-Goutieres syndrome 6 | 1 | Apr 4, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 1 | May 17, 2024 |
| Alexander disease | 1 | Apr 4, 2024 |
| Alternating hemiplegia of childhood 2 | 1 | May 6, 2024 |
| Aniridia 1 | 1 | May 16, 2024 |
| Anterior segment dysgenesis 7 | 1 | May 6, 2024 |
| Anterior segment dysgenesis 8 | 1 | Feb 7, 2024 |
| Aortic aneurysm, familial thoracic 4 | 1 | Mar 14, 2024 |
| Aortic valve disease 1 | 1 | Mar 14, 2024 |
| Aortic valve disease 2 | 1 | May 16, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | May 6, 2024 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | May 16, 2024 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 2 | Feb 7, 2024 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | May 16, 2024 |
| Asphyxiating thoracic dystrophy 3 | 1 | Mar 14, 2024 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 1 | Apr 4, 2024 |
| Ateleiotic dwarfism | 1 | May 6, 2024 |
| Atelosteogenesis type I | 1 | May 16, 2024 |
| Atrial fibrillation, familial, 12 | 1 | Mar 14, 2024 |
| Atrial fibrillation, familial, 7 | 1 | Feb 7, 2024 |
| Atrial septal defect 2 | 1 | Apr 4, 2024 |
| Atrial septal defect 9 | 1 | May 16, 2024 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | May 16, 2024 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 7 | May 17, 2024 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 7 | May 17, 2024 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 | May 16, 2024 |
| Au-Kline syndrome | 1 | May 16, 2024 |
| Auriculocondylar syndrome 2 | 1 | May 16, 2024 |
| Autism, susceptibility to, 5 | 1 | Apr 10, 2024 |
| Autosomal dominant Alport syndrome | 33 | May 16, 2024 |
| Autosomal dominant distal renal tubular acidosis | 1 | May 17, 2024 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 9 | May 16, 2024 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | Apr 10, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Apr 4, 2024 |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 | Apr 4, 2024 |
| Autosomal dominant optic atrophy classic form | 1 | May 16, 2024 |
| Autosomal recessive Alport syndrome | 23 | May 17, 2024 |
| Autosomal recessive Robinow syndrome | 1 | Apr 10, 2024 |
| Autosomal recessive hypophosphatemic bone disease | 2 | May 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 22 | 2 | May 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 26 | 1 | Apr 4, 2024 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Feb 7, 2024 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | May 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Apr 4, 2024 |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 | May 16, 2024 |
| Autosomal recessive osteopetrosis 1 | 1 | Mar 14, 2024 |
| Autosomal recessive spinocerebellar ataxia 2 | 1 | May 17, 2024 |
| Axenfeld-Rieger syndrome type 1 | 1 | May 16, 2024 |
| Baraitser-Winter syndrome 1 | 1 | Mar 14, 2024 |
| Bardet-Biedl syndrome 10 | 2 | Aug 26, 2023 |
| Bardet-Biedl syndrome 17 | 1 | Mar 14, 2024 |
| Bardet-Biedl syndrome 8 | 1 | Aug 26, 2023 |
| Bartter disease type 1 | 1 | Apr 4, 2024 |
| Bartter disease type 2 | 1 | Apr 10, 2024 |
| Bartter disease type 5 | 1 | Mar 14, 2024 |
| Beck-Fahrner syndrome | 1 | Apr 4, 2024 |
| Benign hereditary chorea | 1 | May 6, 2024 |
| Bethlem myopathy 1A | 1 | Apr 4, 2024 |
| Bethlem myopathy 2 | 1 | Apr 4, 2024 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | May 16, 2024 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | May 16, 2024 |
| Bohring-Opitz syndrome | 1 | Apr 4, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | May 17, 2024 |
| Branchiootic syndrome 3 | 1 | Apr 4, 2024 |
| Branchiootorenal syndrome 1 | 1 | Apr 4, 2024 |
| Branchiootorenal syndrome 2 | 1 | Apr 10, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 3 | May 6, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | May 17, 2024 |
| CBL-related disorder | 1 | Apr 4, 2024 |
| CHARGE association | 2 | May 16, 2024 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Apr 10, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Mar 14, 2024 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Apr 10, 2024 |
| Cardiac-urogenital syndrome | 1 | Apr 4, 2024 |
| Cardiofaciocutaneous syndrome 3 | 1 | Apr 4, 2024 |
| Cardiofaciocutaneous syndrome 4 | 1 | Mar 14, 2024 |
| Cardiomyopathy, dilated, 2D | 1 | Apr 4, 2024 |
| Cataract 15 multiple types | 1 | Mar 14, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 3 | Apr 4, 2024 |
| Cenani-Lenz syndactyly syndrome | 1 | Apr 4, 2024 |
| Central core myopathy | 3 | Apr 4, 2024 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Apr 4, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Mar 14, 2024 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Apr 10, 2024 |
| Charcot-Marie-Tooth disease axonal type 2T | 1 | May 16, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | May 16, 2024 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | May 17, 2024 |
| Charcot-marie-tooth disease, axonal, type 2DD | 1 | Apr 4, 2024 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | May 16, 2024 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 | May 6, 2024 |
| Chopra-Amiel-Gordon syndrome | 2 | May 16, 2024 |
| Choroideremia | 1 | Apr 4, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Feb 7, 2024 |
| Ciliary dyskinesia, primary, 43 | 1 | Apr 4, 2024 |
| Clark-Baraitser syndrome | 2 | May 16, 2024 |
| Clubfoot | 1 | Apr 4, 2024 |
| Coffin-Lowry syndrome | 2 | May 17, 2024 |
| Coffin-Siris syndrome 1 | 1 | May 17, 2024 |
| Coffin-Siris syndrome 12 | 1 | Mar 14, 2024 |
| Coffin-Siris syndrome 6 | 1 | May 16, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Apr 4, 2024 |
| Complement factor b deficiency | 1 | Apr 4, 2024 |
| Cone-rod dystrophy 11 | 1 | May 17, 2024 |
| Congenital adrenal hypoplasia, X-linked | 1 | Apr 4, 2024 |
| Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Apr 10, 2024 |
| Congenital anomalies of kidney and urinary tract 3 | 1 | May 16, 2024 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | May 16, 2024 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 | Apr 4, 2024 |
| Congenital contractural arachnodactyly | 1 | May 16, 2024 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 1 | Apr 4, 2024 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | May 6, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | May 16, 2024 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Apr 4, 2024 |
| Congenital myasthenic syndrome 2A | 1 | Apr 4, 2024 |
| Congenital myopathy 4A, autosomal dominant | 1 | Apr 10, 2024 |
| Congenital myotonia, autosomal dominant form | 1 | Apr 4, 2024 |
| Congenital stationary night blindness autosomal dominant 2 | 1 | Apr 10, 2024 |
| Cornelia de Lange syndrome 1 | 2 | Apr 4, 2024 |
| Cornelia de Lange syndrome 3 | 3 | May 16, 2024 |
| Cornelia de Lange syndrome 4 | 1 | Apr 4, 2024 |
| Cornelia de Lange syndrome 5 | 1 | Apr 4, 2024 |
| Cowden syndrome 1 | 1 | Apr 4, 2024 |
| Coxopodopatellar syndrome | 1 | Mar 14, 2024 |
| Cranioectodermal dysplasia 1 | 1 | Apr 4, 2024 |
| Craniosynostosis 2 | 1 | May 6, 2024 |
| Craniosynostosis 4 | 1 | Apr 4, 2024 |
| Craniosynostosis 7 | 1 | Mar 14, 2024 |
| Cystinuria | 1 | Apr 10, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | Apr 4, 2024 |
| Deficiency of alpha-mannosidase | 1 | Apr 10, 2024 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Feb 7, 2024 |
| Delpire-McNeill syndrome | 3 | May 16, 2024 |
| Dent disease type 1 | 5 | May 16, 2024 |
| Dent disease type 2 | 1 | Apr 4, 2024 |
| Developmental and epileptic encephalopathy 103 | 1 | May 6, 2024 |
| Developmental and epileptic encephalopathy 108 | 1 | Feb 7, 2024 |
| Developmental and epileptic encephalopathy 94 | 2 | May 16, 2024 |
| Developmental and epileptic encephalopathy 99 | 1 | Apr 4, 2024 |
| Developmental and epileptic encephalopathy, 11 | 3 | Apr 10, 2024 |
| Developmental and epileptic encephalopathy, 13 | 1 | May 16, 2024 |
| Developmental and epileptic encephalopathy, 14 | 1 | May 6, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | May 6, 2024 |
| Developmental and epileptic encephalopathy, 26 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 27 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 31 | 1 | Apr 4, 2024 |
| Developmental and epileptic encephalopathy, 32 | 2 | May 6, 2024 |
| Developmental and epileptic encephalopathy, 4 | 1 | Apr 4, 2024 |
| Developmental and epileptic encephalopathy, 45 | 1 | May 17, 2024 |
| Developmental and epileptic encephalopathy, 5 | 3 | Apr 4, 2024 |
| Developmental and epileptic encephalopathy, 62 | 2 | May 17, 2024 |
| Developmental and epileptic encephalopathy, 69 | 1 | May 6, 2024 |
| Developmental and epileptic encephalopathy, 7 | 1 | May 16, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 2 | May 16, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | Apr 4, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 2 | Apr 10, 2024 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 2 | Apr 10, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Apr 10, 2024 |
| Diabetes insipidus, nephrogenic, X-linked | 3 | May 17, 2024 |
| Diabetes insipidus, nephrogenic, autosomal | 1 | May 17, 2024 |
| Diamond-Blackfan anemia 5 | 1 | Apr 4, 2024 |
| Diets-Jongmans syndrome | 1 | Apr 4, 2024 |
| Dilated cardiomyopathy 1AA | 1 | May 17, 2024 |
| Dilated cardiomyopathy 1FF | 1 | May 6, 2024 |
| Dilated cardiomyopathy 1G | 3 | May 16, 2024 |
| Dilated cardiomyopathy 1HH | 1 | May 17, 2024 |
| Dilated cardiomyopathy 1KK | 1 | Apr 4, 2024 |
| Dilated cardiomyopathy 1O | 1 | Mar 14, 2024 |
| Dilated cardiomyopathy 1S | 1 | Apr 4, 2024 |
| Dyschromatosis universalis hereditaria 3 | 1 | Apr 4, 2024 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | May 6, 2024 |
| Dystonia 12 | 1 | Apr 4, 2024 |
| Dystonia 28, childhood-onset | 1 | Aug 26, 2023 |
| Ehlers-Danlos syndrome, classic type, 1 | 3 | May 16, 2024 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 | Apr 10, 2024 |
| Elsahy-Waters syndrome | 1 | Apr 4, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Apr 4, 2024 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Apr 4, 2024 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Apr 4, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 1 | May 16, 2024 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Apr 4, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 17 | 1 | Apr 4, 2024 |
| Epileptic encephalopathy, infantile or early childhood, 2 | 1 | Mar 14, 2024 |
| Episodic ataxia type 1 | 1 | May 17, 2024 |
| Episodic ataxia type 2 | 2 | May 16, 2024 |
| Episodic ataxia type 6 | 1 | Apr 4, 2024 |
| Euthyroid goiter | 1 | Feb 7, 2024 |
| FG syndrome 4 | 1 | Apr 10, 2024 |
| Factor I deficiency | 1 | May 16, 2024 |
| Factor XII deficiency disease | 1 | Apr 4, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 3 | Apr 10, 2024 |
| Familial adenomatous polyposis 1 | 1 | May 16, 2024 |
| Familial hypokalemia-hypomagnesemia | 5 | May 17, 2024 |
| Familial idiopathic hypercalciuria | 1 | May 16, 2024 |
| Familial juvenile hyperuricemic nephropathy type 1 | 5 | May 17, 2024 |
| Familial juvenile hyperuricemic nephropathy type 2 | 2 | May 16, 2024 |
| Familial renal glucosuria | 9 | May 17, 2024 |
| Familial type 3 hyperlipoproteinemia | 1 | Apr 4, 2024 |
| Fanconi renotubular syndrome 1 | 1 | May 16, 2024 |
| Farber lipogranulomatosis | 2 | May 6, 2024 |
| Focal segmental glomerulosclerosis 1 | 6 | May 17, 2024 |
| Focal segmental glomerulosclerosis 2 | 6 | May 17, 2024 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 | Apr 4, 2024 |
| Focal segmental glomerulosclerosis 5 | 5 | May 16, 2024 |
| Focal segmental glomerulosclerosis 6 | 1 | Mar 14, 2024 |
| Fragile X syndrome | 1 | Feb 7, 2024 |
| Genitourinary and/or brain malformation syndrome | 1 | May 16, 2024 |
| Glaucoma 3A | 1 | May 16, 2024 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Mar 14, 2024 |
| Glycogen storage disease IXd | 1 | Apr 4, 2024 |
| Gordon syndrome | 2 | May 17, 2024 |
| Greig cephalopolysyndactyly syndrome | 1 | Apr 4, 2024 |
| HELIX syndrome | 1 | May 16, 2024 |
| Hao-Fountain syndrome due to USP7 mutation | 1 | May 16, 2024 |
| Hearing loss, X-linked 1 | 1 | Apr 4, 2024 |
| Hearing loss, autosomal dominant 76 | 1 | Apr 4, 2024 |
| Hearing loss, autosomal recessive 57 | 2 | Apr 4, 2024 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 7 | May 17, 2024 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | May 16, 2024 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Mar 14, 2024 |
| Hereditary spastic paraplegia 2 | 1 | Mar 14, 2024 |
| Hereditary spastic paraplegia 54 | 3 | Apr 10, 2024 |
| Hereditary spastic paraplegia 7 | 2 | Apr 4, 2024 |
| Hereditary xanthinuria type 1 | 1 | May 17, 2024 |
| Hermansky-Pudlak syndrome 11 | 1 | May 16, 2024 |
| Heyn-Sproul-Jackson syndrome | 1 | Apr 4, 2024 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Feb 7, 2024 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Mar 14, 2024 |
| Holoprosencephaly 3 | 1 | Aug 26, 2023 |
| Holoprosencephaly 7 | 1 | Apr 10, 2024 |
| Houge-Janssens syndrome 2 | 1 | May 16, 2024 |
| Hypercalcemia, infantile, 1 | 5 | May 17, 2024 |
| Hyperlipidemia, familial combined, LPL related | 2 | Apr 10, 2024 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Apr 4, 2024 |
| Hypertrophic cardiomyopathy 11 | 2 | Apr 10, 2024 |
| Hypertrophic cardiomyopathy 26 | 3 | May 16, 2024 |
| Hypertrophic cardiomyopathy 4 | 1 | May 16, 2024 |
| Hyperuricemic nephropathy, familial juvenile type 4 | 1 | May 17, 2024 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | Mar 14, 2024 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Apr 10, 2024 |
| Hypokalemic tubulopathy and deafness | 2 | Apr 10, 2024 |
| Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | 1 | Feb 7, 2024 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 1 | May 16, 2024 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Apr 4, 2024 |
| Hypoparathyroidism, familial isolated, 2 | 1 | May 16, 2024 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 | Apr 10, 2024 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 1 | May 16, 2024 |
| Ichthyosis vulgaris | 1 | Apr 10, 2024 |
| Imerslund-Grasbeck syndrome type 1 | 3 | May 17, 2024 |
| Imerslund-Grasbeck syndrome type 2 | 1 | Apr 4, 2024 |
| Immunodeficiency, common variable, 7 | 2 | May 17, 2024 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2 | May 17, 2024 |
| Infantile liver failure syndrome 1 | 1 | Feb 7, 2024 |
| Intellectual developmental disorder 59 | 1 | May 16, 2024 |
| Intellectual developmental disorder 61 | 3 | May 6, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 3 | May 16, 2024 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Apr 4, 2024 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 2 | May 17, 2024 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 | Apr 4, 2024 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 4 | May 17, 2024 |
| Intellectual developmental disorder with seizures and language delay | 1 | Apr 4, 2024 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Apr 10, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | May 17, 2024 |
| Intellectual developmental disorder, autosomal dominant 73 | 2 | May 16, 2024 |
| Intellectual disability, X-linked 102 | 1 | May 16, 2024 |
| Intellectual disability, X-linked 103 | 1 | Apr 4, 2024 |
| Intellectual disability, X-linked 30 | 2 | May 16, 2024 |
| Intellectual disability, X-linked 99 | 1 | May 16, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | May 6, 2024 |
| Intellectual disability, X-linked, syndromic 33 | 3 | May 16, 2024 |
| Intellectual disability, autosomal dominant 1 | 1 | May 16, 2024 |
| Intellectual disability, autosomal dominant 15 | 1 | Apr 4, 2024 |
| Intellectual disability, autosomal dominant 30 | 1 | Apr 10, 2024 |
| Intellectual disability, autosomal dominant 41 | 1 | Apr 10, 2024 |
| Intellectual disability, autosomal dominant 43 | 1 | May 17, 2024 |
| Intellectual disability, autosomal dominant 45 | 6 | May 6, 2024 |
| Intellectual disability, autosomal dominant 46 | 1 | Apr 4, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Apr 4, 2024 |
| Intellectual disability, autosomal dominant 55, with seizures | 2 | May 16, 2024 |
| Intellectual disability, autosomal dominant 57 | 2 | May 17, 2024 |
| Intellectual disability, autosomal dominant 6 | 3 | May 16, 2024 |
| Intellectual disability, autosomal dominant 8 | 1 | May 6, 2024 |
| Intellectual disability, autosomal recessive 3 | 1 | Feb 7, 2024 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Apr 4, 2024 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Apr 4, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Aug 26, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Aug 26, 2023 |
| Joubert syndrome 14 | 1 | May 16, 2024 |
| Joubert syndrome 32 | 1 | May 17, 2024 |
| KBG syndrome | 3 | May 6, 2024 |
| Kabuki syndrome 1 | 3 | May 16, 2024 |
| Keratosis follicularis | 2 | Apr 4, 2024 |
| Kleefstra syndrome 1 | 1 | May 6, 2024 |
| Kleefstra syndrome 2 | 2 | May 6, 2024 |
| Koolen-de Vries syndrome | 1 | May 17, 2024 |
| LADD syndrome 1 | 1 | Apr 4, 2024 |
| Lamb-Shaffer syndrome | 1 | Feb 7, 2024 |
| Left ventricular noncompaction 7 | 1 | Feb 7, 2024 |
| Lessel-Kreienkamp syndrome | 2 | Apr 4, 2024 |
| Leydig cell agenesis | 1 | Apr 10, 2024 |
| Li-Fraumeni syndrome 2 | 1 | Apr 4, 2024 |
| Lissencephaly 6 with microcephaly | 1 | May 16, 2024 |
| Lissencephaly 8 | 1 | May 6, 2024 |
| Lissencephaly 9 with complex brainstem malformation | 2 | May 16, 2024 |
| Lissencephaly due to LIS1 mutation | 1 | May 6, 2024 |
| Long QT syndrome 1 | 1 | Aug 26, 2023 |
| Long QT syndrome 2 | 1 | Apr 4, 2024 |
| Luscan-Lumish syndrome | 1 | May 16, 2024 |
| Lynch syndrome 1 | 2 | Apr 4, 2024 |
| Lynch syndrome 4 | 1 | Apr 4, 2024 |
| MGAT2-congenital disorder of glycosylation | 2 | Mar 14, 2024 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Feb 7, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Apr 10, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 12 | May 17, 2024 |
| Macular dystrophy with central cone involvement | 1 | Apr 10, 2024 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Apr 10, 2024 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | Apr 4, 2024 |
| Marfan syndrome | 5 | May 16, 2024 |
| Marshall syndrome | 1 | May 17, 2024 |
| Maturity-onset diabetes of the young type 1 | 1 | May 16, 2024 |
| Maturity-onset diabetes of the young type 13 | 1 | Apr 4, 2024 |
| Maturity-onset diabetes of the young type 2 | 2 | May 6, 2024 |
| Maturity-onset diabetes of the young type 3 | 1 | Feb 7, 2024 |
| Meckel syndrome, type 5 | 1 | Apr 4, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | May 17, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Apr 4, 2024 |
| Microcephaly 18, primary, autosomal dominant | 3 | May 17, 2024 |
| Microcephaly 27, primary, autosomal dominant | 1 | Apr 4, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 8 | May 17, 2024 |
| Microphthalmia with brain and digit anomalies | 1 | Apr 4, 2024 |
| Mitochondrial DNA depletion syndrome 8a | 1 | Apr 10, 2024 |
| Mowat-Wilson syndrome | 2 | May 16, 2024 |
| Mucolipidosis type IV | 1 | May 16, 2024 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Apr 4, 2024 |
| Multiple endocrine neoplasia, type 1 | 1 | May 17, 2024 |
| Multiple epiphyseal dysplasia type 1 | 1 | Apr 4, 2024 |
| Myopathy, centronuclear, 5 | 1 | Feb 7, 2024 |
| NEK9-related lethal skeletal dysplasia | 2 | Feb 7, 2024 |
| Nail-patella-like renal disease | 3 | May 16, 2024 |
| Nemaline myopathy 5 | 1 | May 17, 2024 |
| Nephrolithiasis susceptibility caused by SLC26A1 | 1 | May 17, 2024 |
| Nephronophthisis 1 | 1 | May 6, 2024 |
| Nephronophthisis 11 | 1 | May 17, 2024 |
| Nephronophthisis 3 | 1 | Apr 4, 2024 |
| Nephronophthisis 4 | 3 | May 16, 2024 |
| Nephrotic syndrome 14 | 1 | Apr 4, 2024 |
| Nephrotic syndrome, type 12 | 1 | May 6, 2024 |
| Nephrotic syndrome, type 2 | 2 | May 17, 2024 |
| Nephrotic syndrome, type 20 | 2 | Apr 10, 2024 |
| Nephrotic syndrome, type 3 | 1 | Aug 26, 2023 |
| Nephrotic syndrome, type 4 | 1 | Feb 7, 2024 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 2 | May 16, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 1 | Apr 4, 2024 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 2 | Apr 4, 2024 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | May 16, 2024 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Apr 4, 2024 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | May 16, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | May 16, 2024 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 1 | Apr 10, 2024 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 | Feb 7, 2024 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Apr 4, 2024 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Feb 7, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 1 | Mar 14, 2024 |
| Neurofibromatosis, type 1 | 3 | May 17, 2024 |
| Neurohypophyseal diabetes insipidus | 1 | May 16, 2024 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 1 | Feb 7, 2024 |
| Nicolaides-Baraitser syndrome | 2 | May 16, 2024 |
| Noonan syndrome 4 | 1 | Mar 14, 2024 |
| Noonan syndrome 9 | 1 | May 6, 2024 |
| Norum disease | 1 | Apr 4, 2024 |
| O'Donnell-Luria-Rodan syndrome | 1 | Mar 14, 2024 |
| Ocular albinism, type I | 1 | May 6, 2024 |
| Oculofaciocardiodental syndrome | 2 | May 16, 2024 |
| Ogden syndrome | 1 | May 16, 2024 |
| Orofaciodigital syndrome I | 2 | May 16, 2024 |
| Osteogenesis imperfecta type III | 1 | Aug 26, 2023 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | May 17, 2024 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 1 | May 17, 2024 |
| Paramyotonia congenita of Von Eulenburg | 1 | Mar 14, 2024 |
| Patterned macular dystrophy 2 | 1 | May 16, 2024 |
| Pelizaeus-Merzbacher disease | 1 | Mar 14, 2024 |
| Perlman syndrome | 1 | May 16, 2024 |
| Peutz-Jeghers syndrome | 1 | May 6, 2024 |
| Pfeiffer syndrome | 1 | May 6, 2024 |
| Pleuropulmonary blastoma | 1 | Feb 7, 2024 |
| Polycystic kidney disease 2 | 22 | May 17, 2024 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 3 | May 17, 2024 |
| Polycystic kidney disease 4 | 7 | May 17, 2024 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 2 | May 17, 2024 |
| Polycystic kidney disease 7 | 3 | May 17, 2024 |
| Polycystic kidney disease, adult type | 136 | May 17, 2024 |
| Polycystic liver disease 2 | 1 | May 16, 2024 |
| Polycystic liver disease 4 with or without kidney cysts | 1 | Apr 4, 2024 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Apr 10, 2024 |
| Primary erythromelalgia | 1 | May 17, 2024 |
| Primary hypomagnesemia | 2 | May 16, 2024 |
| Progressive familial heart block type IB | 1 | Feb 7, 2024 |
| Pseudohypoaldosteronism type 2E | 1 | Mar 14, 2024 |
| Pseudohypoaldosteronism, type IB2, autosomal recessive | 1 | Aug 26, 2023 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 1 | Mar 14, 2024 |
| Radioulnar synostosis, nonsyndromic, susceptibility to | 1 | Mar 14, 2024 |
| Rauch-Steindl syndrome | 2 | Apr 4, 2024 |
| Renal coloboma syndrome | 2 | May 16, 2024 |
| Renal cysts and diabetes syndrome | 13 | May 17, 2024 |
| Renal dysplasia, cystic, susceptibility to | 5 | May 17, 2024 |
| Renal hypodysplasia/aplasia 3 | 3 | May 17, 2024 |
| Renal hypomagnesemia 5 with ocular involvement | 1 | Apr 10, 2024 |
| Renal tubular acidosis with progressive nerve deafness | 4 | May 16, 2024 |
| Renal-hepatic-pancreatic dysplasia 2 | 2 | May 17, 2024 |
| Retinitis pigmentosa 10 | 1 | May 17, 2024 |
| Retinitis pigmentosa 11 | 1 | May 17, 2024 |
| Retinitis pigmentosa 13 | 1 | May 6, 2024 |
| Retinitis pigmentosa 14 | 1 | May 16, 2024 |
| Retinitis pigmentosa 3 | 1 | Apr 4, 2024 |
| Retinitis pigmentosa 41 | 1 | Apr 4, 2024 |
| Retinitis pigmentosa 80 | 7 | May 17, 2024 |
| Retinitis pigmentosa 9 | 1 | Apr 4, 2024 |
| Retinoblastoma | 1 | May 16, 2024 |
| Rett syndrome | 1 | Mar 14, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Apr 4, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2 | May 16, 2024 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 2 | May 16, 2024 |
| Schinzel-Giedion syndrome | 1 | Feb 7, 2024 |
| Senior-Loken syndrome 6 | 1 | Aug 26, 2023 |
| Sessile serrated polyposis cancer syndrome | 1 | Apr 4, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Apr 4, 2024 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Apr 4, 2024 |
| Severe myoclonic epilepsy in infancy | 2 | May 16, 2024 |
| Shashi-Pena syndrome | 1 | Apr 4, 2024 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | May 6, 2024 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | May 16, 2024 |
| Sifrim-Hitz-Weiss syndrome | 3 | May 17, 2024 |
| Silver-Russell syndrome 5 | 1 | Apr 10, 2024 |
| Sitosterolemia 2 | 1 | Mar 14, 2024 |
| Skin creases, congenital symmetric circumferential, 2 | 1 | May 16, 2024 |
| Skraban-Deardorff syndrome | 1 | May 16, 2024 |
| Snijders Blok-Campeau syndrome | 2 | May 17, 2024 |
| Spermatogenic failure 30 | 1 | May 16, 2024 |
| Spinocerebellar ataxia 27A | 1 | Mar 14, 2024 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 2 | Apr 4, 2024 |
| Spinocerebellar ataxia type 28 | 1 | Apr 4, 2024 |
| Spinocerebellar ataxia type 5 | 1 | Feb 7, 2024 |
| Syndromic X-linked intellectual disability 94 | 2 | Apr 4, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Apr 4, 2024 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Mar 14, 2024 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Apr 4, 2024 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | May 16, 2024 |
| Teebi hypertelorism syndrome 1 | 1 | Apr 4, 2024 |
| Temple-Baraitser syndrome | 1 | May 6, 2024 |
| Tessadori-van Haaften neurodevelopmental syndrome 2 | 1 | May 16, 2024 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Apr 4, 2024 |
| Timothy syndrome | 1 | Apr 4, 2024 |
| Townes-Brocks syndrome 1 | 1 | Apr 10, 2024 |
| Trichorhinophalangeal dysplasia type I | 2 | Aug 26, 2023 |
| Tuberous sclerosis 1 | 1 | May 6, 2024 |
| Tuberous sclerosis 2 | 4 | May 17, 2024 |
| Ullrich congenital muscular dystrophy 1A | 1 | Apr 4, 2024 |
| Ulnar-mammary syndrome | 2 | Apr 4, 2024 |
| Upshaw-Schulman syndrome | 2 | May 6, 2024 |
| Usher syndrome type 2A | 2 | Apr 4, 2024 |
| Usher syndrome type 2C | 1 | Apr 4, 2024 |
| Vertebral hypersegmentation and orofacial anomalies | 1 | Apr 4, 2024 |
| Ververi-Brady syndrome | 2 | May 16, 2024 |
| Vesicoureteral reflux 8 | 1 | Apr 4, 2024 |
| Vissers-Bodmer syndrome | 2 | May 6, 2024 |
| Wieacker-Wolff syndrome | 1 | May 16, 2024 |
| Wiedemann-Steiner syndrome | 2 | May 17, 2024 |
| X-linked Alport syndrome | 34 | May 17, 2024 |
| X-linked Opitz G/BBB syndrome | 1 | May 16, 2024 |
| X-linked cone-rod dystrophy 3 | 1 | Apr 4, 2024 |
| X-linked dystonia-parkinsonism | 1 | Feb 7, 2024 |
| X-linked erythropoietic protoporphyria | 1 | May 6, 2024 |
| X-linked intellectual disability, Cantagrel type | 1 | Apr 4, 2024 |
| X-linked lissencephaly with abnormal genitalia | 1 | Apr 4, 2024 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Feb 7, 2024 |
| X-linked progressive cerebellar ataxia | 1 | Apr 4, 2024 |
| ZTTK syndrome | 1 | Apr 4, 2024 |
| Zimmermann-laband syndrome 3 | 1 | May 6, 2024 |
