3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Mar 14, 2024 |
46,XY sex reversal 6 | 1 | May 6, 2024 |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | May 11, 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 |
Alagille syndrome due to a NOTCH2 point mutation | 2 | Aug 2, 2024 |
Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | May 11, 2024 |
Alexander disease | 1 | Apr 4, 2024 |
Alternating hemiplegia of childhood 2 | 1 | May 6, 2024 |
Amelogenesis imperfecta type 1E | 1 | Aug 2, 2024 |
Andersen Tawil syndrome | 2 | Sep 4, 2024 |
Aniridia 1 | 2 | May 28, 2024 |
Anonychia | 2 | Aug 2, 2024 |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | May 11, 2024 |
Anterior segment dysgenesis 7 | 1 | May 6, 2024 |
Anterior segment dysgenesis 8 | 1 | Feb 7, 2024 |
Aortic aneurysm, familial thoracic 11, susceptibility to | 1 | Sep 4, 2024 |
Aortic aneurysm, familial thoracic 4 | 1 | Mar 14, 2024 |
Aortic valve disease 1 | 1 | Mar 14, 2024 |
Aortic valve disease 2 | 2 | Aug 1, 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, distal, type 1B | 1 | Jul 1, 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 | 2 | May 28, 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 | 8 | May 28, 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 |
Autism, susceptibility to, X-linked 4 | 1 | May 28, 2024 |
Autosomal dominant Alport syndrome | 51 | Sep 4, 2024 |
Autosomal dominant Robinow syndrome 3 | 1 | Sep 4, 2024 |
Autosomal dominant distal renal tubular acidosis | 3 | Sep 4, 2024 |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 11 | May 28, 2024 |
Autosomal dominant hypophosphatemic rickets | 1 | Aug 1, 2024 |
Autosomal dominant nonsyndromic hearing loss 11 | 1 | May 28, 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 omodysplasia | 2 | May 28, 2024 |
Autosomal dominant optic atrophy classic form | 1 | May 16, 2024 |
Autosomal recessive Alport syndrome | 43 | Sep 4, 2024 |
Autosomal recessive Robinow syndrome | 1 | Apr 10, 2024 |
Autosomal recessive hypophosphatemic bone disease | 4 | May 28, 2024 |
Autosomal recessive nonsyndromic hearing loss 22 | 2 | May 6, 2024 |
Autosomal recessive nonsyndromic hearing loss 24 | 1 | May 28, 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 84B | 1 | Aug 1, 2024 |
Autosomal recessive nonsyndromic hearing loss 89 | 2 | May 28, 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 |
Baraitser-winter syndrome 2 | 1 | May 11, 2024 |
Bardet-Biedl syndrome 10 | 2 | Aug 26, 2023 |
Bardet-Biedl syndrome 17 | 1 | Mar 14, 2024 |
Bardet-Biedl syndrome 7 | 2 | Aug 2, 2024 |
Bardet-Biedl syndrome 8 | 1 | Aug 26, 2023 |
Bartter disease type 1 | 2 | Aug 2, 2024 |
Bartter disease type 2 | 2 | Aug 1, 2024 |
Bartter disease type 5 | 1 | Mar 14, 2024 |
Beck-Fahrner syndrome | 1 | Apr 4, 2024 |
Benign hereditary chorea | 1 | May 6, 2024 |
Beta-D-mannosidosis | 1 | May 11, 2024 |
Bethlem myopathy 1A | 1 | Apr 4, 2024 |
Bethlem myopathy 2 | 1 | Apr 4, 2024 |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 2 | May 16, 2024 |
Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | May 16, 2024 |
Bohring-Opitz syndrome | 1 | Apr 4, 2024 |
Brachydactyly type E2 | 1 | Aug 1, 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 | 2 | Aug 1, 2024 |
Branchiootorenal syndrome 2 | 1 | Apr 10, 2024 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 4 | Sep 4, 2024 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | May 17, 2024 |
Brunner syndrome | 1 | May 28, 2024 |
CBL-related disorder | 1 | Apr 4, 2024 |
CHARGE syndrome | 5 | May 28, 2024 |
CODAS syndrome | 1 | May 11, 2024 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Apr 10, 2024 |
Capillary malformation-arteriovenous malformation 1 | 1 | Aug 1, 2024 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | May 18, 2024 |
Cardiac, facial, and digital anomalies with developmental delay | 1 | Apr 10, 2024 |
Cardiac-urogenital syndrome | 1 | Apr 4, 2024 |
Cardiofaciocutaneous syndrome 3 | 2 | Aug 2, 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 | 6 | Aug 2, 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 |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | May 18, 2024 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Mar 14, 2024 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | May 18, 2024 |
Charcot-Marie-Tooth disease axonal type 2O | 2 | Aug 2, 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 |
Cholestasis, progressive familial intrahepatic, 4 | 1 | May 28, 2024 |
Chopra-Amiel-Gordon syndrome | 4 | Sep 4, 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 | 3 | May 28, 2024 |
Coenzyme Q10 deficiency, primary, 1 | 1 | Aug 1, 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 |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | May 20, 2024 |
Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Apr 4, 2024 |
Complement factor b deficiency | 1 | Apr 4, 2024 |
Complex cortical dysplasia with other brain malformations 3 | 1 | Aug 2, 2024 |
Complex cortical dysplasia with other brain malformations 7 | 1 | May 11, 2024 |
Cone-rod dystrophy 11 | 1 | May 17, 2024 |
Congenital adrenal hypoplasia, X-linked | 1 | Apr 4, 2024 |
Congenital adrenal insufficiency 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 | 2 | May 28, 2024 |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 | Apr 4, 2024 |
Congenital contractural arachnodactyly | 1 | May 16, 2024 |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | May 11, 2024 |
Congenital disorder of glycosylation with defective fucosylation 2 | 1 | Apr 4, 2024 |
Congenital dyserythropoietic anemia, type II | 1 | May 28, 2024 |
Congenital fibrosis of extraocular muscles type 1 | 1 | May 6, 2024 |
Congenital generalized lipodystrophy type 1 | 1 | Aug 2, 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 | 2 | Aug 2, 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 | 3 | May 11, 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 7 | 1 | Mar 14, 2024 |
Creatine transporter deficiency | 1 | Sep 4, 2024 |
Cystinuria | 1 | Apr 10, 2024 |
DYRK1A-related intellectual disability syndrome | 2 | May 11, 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 | 10 | Sep 4, 2024 |
Dent disease type 2 | 1 | Apr 4, 2024 |
Desbuquois dysplasia 1 | 1 | May 11, 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 | 5 | Aug 2, 2024 |
Developmental and epileptic encephalopathy, 13 | 2 | May 28, 2024 |
Developmental and epileptic encephalopathy, 14 | 1 | May 6, 2024 |
Developmental and epileptic encephalopathy, 2 | 1 | Sep 4, 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, 31A | 1 | Apr 4, 2024 |
Developmental and epileptic encephalopathy, 32 | 2 | May 6, 2024 |
Developmental and epileptic encephalopathy, 33 | 1 | May 11, 2024 |
Developmental and epileptic encephalopathy, 4 | 2 | May 11, 2024 |
Developmental and epileptic encephalopathy, 42 | 1 | May 18, 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, 65 | 1 | Aug 2, 2024 |
Developmental and epileptic encephalopathy, 69 | 4 | Aug 1, 2024 |
Developmental and epileptic encephalopathy, 7 | 1 | May 16, 2024 |
Developmental and epileptic encephalopathy, 8 | 1 | Aug 1, 2024 |
Developmental delay with or without dysmorphic facies and autism | 2 | May 16, 2024 |
Developmental delay with or without intellectual impairment or behavioral abnormalities | 2 | May 28, 2024 |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 | May 11, 2024 |
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 2 | Apr 10, 2024 |
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | May 11, 2024 |
Developmental delay, impaired speech, and behavioral abnormalities | 1 | Apr 10, 2024 |
Diabetes insipidus, nephrogenic, X-linked | 4 | May 28, 2024 |
Diabetes insipidus, nephrogenic, autosomal | 1 | May 17, 2024 |
Diabetes mellitus, permanent neonatal 3 | 1 | May 18, 2024 |
Diamond-Blackfan anemia 5 | 1 | Apr 4, 2024 |
Diaphragmatic hernia 4, with cardiovascular defects | 2 | May 11, 2024 |
Diets-Jongmans syndrome | 1 | Apr 4, 2024 |
Dilated cardiomyopathy 1AA | 1 | May 17, 2024 |
Dilated cardiomyopathy 1EE | 1 | Sep 4, 2024 |
Dilated cardiomyopathy 1FF | 1 | May 6, 2024 |
Dilated cardiomyopathy 1G | 7 | Sep 4, 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 |
Distichiasis-lymphedema syndrome | 1 | May 28, 2024 |
Duane-radial ray syndrome | 2 | Aug 2, 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 due to tenascin-X deficiency | 1 | May 28, 2024 |
Ehlers-Danlos syndrome, arthrochalasia type | 1 | May 11, 2024 |
Ehlers-Danlos syndrome, classic type, 1 | 4 | May 18, 2024 |
Ehlers-Danlos syndrome, classic type, 2 | 1 | May 11, 2024 |
Ehlers-Danlos syndrome, dermatosparaxis type | 1 | Apr 10, 2024 |
Elsahy-Waters syndrome | 1 | Apr 4, 2024 |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 3 | Sep 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 | 2 | May 20, 2024 |
Epileptic encephalopathy, infantile or early childhood, 1 | 1 | May 18, 2024 |
Epileptic encephalopathy, infantile or early childhood, 2 | 1 | Mar 14, 2024 |
Epiphyseal dysplasia, multiple, 6 | 1 | May 18, 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 | 5 | Aug 2, 2024 |
Familial adenomatous polyposis 1 | 1 | May 16, 2024 |
Familial cancer of breast | 1 | May 11, 2024 |
Familial cold autoinflammatory syndrome 2 | 2 | Sep 4, 2024 |
Familial hyperaldosteronism type II | 1 | May 28, 2024 |
Familial hypobetalipoproteinemia 1 | 1 | May 18, 2024 |
Familial hypokalemia-hypomagnesemia | 9 | Aug 1, 2024 |
Familial idiopathic hypercalciuria | 2 | May 18, 2024 |
Familial juvenile hyperuricemic nephropathy type 1 | 11 | Sep 4, 2024 |
Familial juvenile hyperuricemic nephropathy type 2 | 2 | May 16, 2024 |
Familial renal glucosuria | 16 | Aug 2, 2024 |
Familial type 3 hyperlipoproteinemia | 1 | Apr 4, 2024 |
Familial type 5 hyperlipoproteinemia | 1 | May 11, 2024 |
Fanconi renotubular syndrome 1 | 1 | May 16, 2024 |
Farber lipogranulomatosis | 2 | May 6, 2024 |
Focal segmental glomerulosclerosis 1 | 7 | May 18, 2024 |
Focal segmental glomerulosclerosis 2 | 11 | Sep 4, 2024 |
Focal segmental glomerulosclerosis 3, susceptibility to | 1 | Apr 4, 2024 |
Focal segmental glomerulosclerosis 5 | 6 | Sep 4, 2024 |
Focal segmental glomerulosclerosis 6 | 1 | Mar 14, 2024 |
Focal segmental glomerulosclerosis 7 | 3 | May 28, 2024 |
Focal segmental glomerulosclerosis 9 | 1 | Sep 4, 2024 |
Fragile X syndrome | 1 | Feb 7, 2024 |
Generalized dominant dystrophic epidermolysis bullosa | 1 | Aug 2, 2024 |
Genitourinary and/or brain malformation syndrome | 1 | May 16, 2024 |
Glaucoma 3A | 1 | May 16, 2024 |
Glomerulopathy with fibronectin deposits 2 | 1 | Aug 1, 2024 |
Glutamate pyruvate transaminase 2 deficiency | 1 | Mar 14, 2024 |
Glycogen storage disease IXd | 1 | Apr 4, 2024 |
Glycogen storage disease type III | 1 | May 18, 2024 |
Gordon syndrome | 2 | May 17, 2024 |
Greig cephalopolysyndactyly syndrome | 2 | Aug 1, 2024 |
Growth delay due to insulin-like growth factor I resistance | 1 | May 20, 2024 |
HELIX syndrome | 2 | Sep 4, 2024 |
Hao-Fountain syndrome due to USP7 mutation | 2 | May 18, 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 | 9 | Aug 1, 2024 |
Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | May 16, 2024 |
Hereditary diffuse gastric adenocarcinoma | 1 | Mar 14, 2024 |
Hereditary pancreatitis | 1 | May 11, 2024 |
Hereditary spastic paraplegia 10 | 1 | Sep 4, 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 | 2 | May 18, 2024 |
Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Mar 14, 2024 |
Holoprosencephaly 3 | 1 | Aug 26, 2023 |
Holoprosencephaly 7 | 2 | May 11, 2024 |
Holt-Oram syndrome | 1 | May 18, 2024 |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 | Aug 1, 2024 |
Houge-Janssens syndrome 2 | 1 | May 16, 2024 |
Hypercalcemia, infantile, 1 | 5 | May 17, 2024 |
Hypercholesterolemia, autosomal dominant, type B | 1 | May 28, 2024 |
Hyperekplexia 1 | 1 | Aug 1, 2024 |
Hyperinsulinism-hyperammonemia syndrome | 1 | May 18, 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 | 4 | 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 |
Hypogonadotropic hypogonadism 9 with or without anosmia | 1 | May 11, 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 | 4 | Sep 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 |
Imagawa-Matsumoto syndrome | 1 | May 11, 2024 |
Imerslund-Grasbeck syndrome type 1 | 5 | Sep 4, 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 |
Inflammatory skin and bowel disease, neonatal, 2 | 1 | May 18, 2024 |
Intellectual developmental disorder 59 | 1 | May 16, 2024 |
Intellectual developmental disorder 61 | 3 | May 6, 2024 |
Intellectual developmental disorder with autism and macrocephaly | 4 | May 16, 2024 |
Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | May 11, 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 66 | 1 | Aug 1, 2024 |
Intellectual developmental disorder, autosomal dominant 73 | 2 | May 16, 2024 |
Intellectual disability, X-linked 1 | 1 | Aug 2, 2024 |
Intellectual disability, X-linked 102 | 1 | May 16, 2024 |
Intellectual disability, X-linked 103 | 1 | Apr 4, 2024 |
Intellectual disability, X-linked 104 | 1 | May 28, 2024 |
Intellectual disability, X-linked 106 | 1 | May 11, 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 | 2 | May 11, 2024 |
Intellectual disability, X-linked, syndromic 33 | 3 | May 16, 2024 |
Intellectual disability, X-linked, with or without seizures, arx-related | 1 | May 18, 2024 |
Intellectual disability, autosomal dominant 1 | 1 | May 16, 2024 |
Intellectual disability, autosomal dominant 13 | 1 | Aug 1, 2024 |
Intellectual disability, autosomal dominant 15 | 1 | Apr 4, 2024 |
Intellectual disability, autosomal dominant 29 | 1 | Aug 1, 2024 |
Intellectual disability, autosomal dominant 30 | 1 | Apr 10, 2024 |
Intellectual disability, autosomal dominant 41 | 2 | May 28, 2024 |
Intellectual disability, autosomal dominant 43 | 1 | May 17, 2024 |
Intellectual disability, autosomal dominant 45 | 7 | May 20, 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 56 | 1 | May 28, 2024 |
Intellectual disability, autosomal dominant 57 | 3 | Aug 2, 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 | 2 | Aug 1, 2024 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | May 11, 2024 |
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 |
Juvenile polyposis syndrome | 1 | Aug 1, 2024 |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 1 | May 18, 2024 |
KBG syndrome | 3 | May 6, 2024 |
Kabuki syndrome 1 | 5 | May 28, 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 | 2 | May 18, 2024 |
LADD syndrome 1 | 1 | Apr 4, 2024 |
Lamb-Shaffer syndrome | 1 | Feb 7, 2024 |
Lambdoidal craniosynostosis | 1 | Apr 4, 2024 |
Landau-Kleffner syndrome | 1 | May 28, 2024 |
Leber congenital amaurosis 1 | 1 | Aug 1, 2024 |
Left ventricular noncompaction 7 | 1 | Feb 7, 2024 |
Lessel-Kreienkamp syndrome | 3 | May 28, 2024 |
Lethal arthrogryposis-anterior horn cell disease syndrome | 1 | May 11, 2024 |
Lethal occipital encephalocele-skeletal dysplasia syndrome | 1 | May 20, 2024 |
Leydig cell agenesis | 1 | Apr 10, 2024 |
Li-Fraumeni syndrome 2 | 1 | Apr 4, 2024 |
Lissencephaly 6 with microcephaly | 2 | May 28, 2024 |
Lissencephaly 8 | 1 | May 6, 2024 |
Lissencephaly 9 with complex brainstem malformation | 3 | Aug 2, 2024 |
Lissencephaly due to LIS1 mutation | 1 | May 6, 2024 |
Long QT syndrome 1 | 1 | Aug 26, 2023 |
Long QT syndrome 2 | 2 | May 28, 2024 |
Low phospholipid associated cholelithiasis | 1 | Aug 1, 2024 |
Lowe syndrome | 1 | May 28, 2024 |
Luscan-Lumish syndrome | 1 | May 16, 2024 |
Lynch syndrome 1 | 3 | May 28, 2024 |
Lynch syndrome 4 | 1 | Apr 4, 2024 |
Lynch syndrome 5 | 1 | May 11, 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 | 15 | Aug 1, 2024 |
Macular dystrophy with central cone involvement | 1 | Apr 10, 2024 |
Malan overgrowth syndrome | 1 | May 28, 2024 |
Malignant hyperthermia, susceptibility to, 1 | 1 | Apr 10, 2024 |
Mandibulofacial dysostosis with alopecia | 1 | May 20, 2024 |
Marbach-Schaaf neurodevelopmental syndrome | 1 | Apr 4, 2024 |
Marfan syndrome | 6 | May 18, 2024 |
Marshall syndrome | 1 | May 17, 2024 |
Marshall-Smith syndrome | 1 | May 11, 2024 |
Maturity-onset diabetes of the young type 1 | 2 | Sep 4, 2024 |
Maturity-onset diabetes of the young type 13 | 1 | Apr 4, 2024 |
Maturity-onset diabetes of the young type 2 | 3 | Aug 2, 2024 |
Maturity-onset diabetes of the young type 3 | 1 | Feb 7, 2024 |
Meckel syndrome, type 5 | 1 | Apr 4, 2024 |
Meckel syndrome, type 6 | 1 | May 11, 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 | 9 | 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 |
Mucopolysaccharidosis type 7 | 2 | May 28, 2024 |
Mucopolysaccharidosis, MPS-IV-A | 1 | Aug 2, 2024 |
Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 | May 11, 2024 |
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Apr 4, 2024 |
Multiple endocrine neoplasia, type 1 | 2 | Sep 4, 2024 |
Multiple epiphyseal dysplasia type 1 | 1 | Apr 4, 2024 |
Myopathy, centronuclear, 5 | 1 | Feb 7, 2024 |
Myopia 27 | 1 | May 11, 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 12 | 1 | May 18, 2024 |
Nephronophthisis 3 | 1 | Apr 4, 2024 |
Nephronophthisis 4 | 3 | May 16, 2024 |
Nephrotic syndrome 14 | 1 | Apr 4, 2024 |
Nephrotic syndrome, IIa 26 | 2 | Aug 2, 2024 |
Nephrotic syndrome, type 12 | 2 | May 11, 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 | 4 | May 11, 2024 |
Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 2 | May 16, 2024 |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 3 | Aug 1, 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 movement abnormalities, abnormal gait, and autistic features | 1 | May 20, 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 speech impairment and dysmorphic facies | 1 | Aug 2, 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 | 7 | Aug 1, 2024 |
Neurohypophyseal diabetes insipidus | 1 | May 16, 2024 |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 1 | Feb 7, 2024 |
Nicolaides-Baraitser syndrome | 3 | May 16, 2024 |
Noonan syndrome 4 | 1 | Mar 14, 2024 |
Noonan syndrome 6 | 1 | Sep 4, 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 |
Oligosynaptic infertility | 1 | Aug 1, 2024 |
Orofaciodigital syndrome I | 4 | Aug 1, 2024 |
Osteogenesis imperfecta type III | 1 | Aug 26, 2023 |
Osteogenesis imperfecta with normal sclerae, dominant form | 1 | May 17, 2024 |
Osteopathia striata with cranial sclerosis | 1 | May 11, 2024 |
PULMONARY ALVEOLAR MICROLITHIASIS | 1 | May 17, 2024 |
Paramyotonia congenita of Von Eulenburg | 1 | Mar 14, 2024 |
Parenti-mignot neurodevelopmental syndrome | 1 | May 28, 2024 |
Patterned macular dystrophy 2 | 1 | May 16, 2024 |
Pelizaeus-Merzbacher disease | 2 | May 28, 2024 |
Periventricular nodular heterotopia 7 | 1 | May 11, 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 | 31 | Sep 4, 2024 |
Polycystic kidney disease 3 with or without polycystic liver disease | 6 | Aug 1, 2024 |
Polycystic kidney disease 4 | 13 | Sep 4, 2024 |
Polycystic kidney disease 6 with or without polycystic liver disease | 3 | Sep 4, 2024 |
Polycystic kidney disease 7 | 5 | Aug 2, 2024 |
Polycystic kidney disease, adult type | 194 | Sep 4, 2024 |
Polycystic liver disease 2 | 1 | May 16, 2024 |
Polycystic liver disease 4 with or without kidney cysts | 2 | Aug 2, 2024 |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 1 | Aug 1, 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 |
Protein-losing enteropathy | 1 | Sep 4, 2024 |
Proteinuria, chronic benign | 3 | Sep 4, 2024 |
Pseudohypoaldosteronism type 2D | 1 | May 11, 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 |
Pulmonary hypertension, primary, 1 | 1 | Aug 1, 2024 |
Radioulnar synostosis, nonsyndromic, susceptibility to | 1 | Mar 14, 2024 |
Rauch-Steindl syndrome | 3 | Aug 1, 2024 |
Renal coloboma syndrome | 4 | May 28, 2024 |
Renal cysts and diabetes syndrome | 19 | Sep 4, 2024 |
Renal dysplasia, cystic, susceptibility to | 5 | May 17, 2024 |
Renal hypodysplasia/aplasia 3 | 4 | Aug 1, 2024 |
Renal hypomagnesemia 5 with ocular involvement | 1 | Apr 10, 2024 |
Renal tubular acidosis with progressive nerve deafness | 5 | Aug 2, 2024 |
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 1 | Aug 2, 2024 |
Renal-hepatic-pancreatic dysplasia 2 | 3 | May 28, 2024 |
Retinitis pigmentosa 10 | 1 | May 17, 2024 |
Retinitis pigmentosa 11 | 3 | Aug 1, 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 49 | 1 | May 11, 2024 |
Retinitis pigmentosa 80 | 8 | 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 | 3 | May 28, 2024 |
SHORT syndrome | 1 | May 11, 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 X-linked myotubular myopathy | 1 | May 11, 2024 |
Severe early-childhood-onset retinal dystrophy | 1 | May 11, 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 |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Aug 1, 2024 |
Sifrim-Hitz-Weiss syndrome | 4 | May 28, 2024 |
Silver-Russell syndrome 3 | 1 | May 28, 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 | 2 | 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 13 | 1 | May 18, 2024 |
Spinocerebellar ataxia type 28 | 1 | Apr 4, 2024 |
Spinocerebellar ataxia type 5 | 1 | Feb 7, 2024 |
Spondylometaphyseal dysplasia - Sutcliffe type | 1 | Aug 1, 2024 |
Stickler syndrome, type I, nonsyndromic ocular | 1 | Sep 4, 2024 |
Suleiman-El-Hattab syndrome | 2 | Aug 1, 2024 |
Syndromic X-linked intellectual disability 94 | 3 | May 28, 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 |
Talipes equinovarus | 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 |
Tetralogy of Fallot | 1 | Aug 2, 2024 |
Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Apr 4, 2024 |
Timothy syndrome | 1 | Apr 4, 2024 |
Townes-Brocks syndrome 1 | 4 | May 28, 2024 |
Trichorhinophalangeal dysplasia type I | 2 | Aug 26, 2023 |
Tuberous sclerosis 1 | 1 | May 6, 2024 |
Tuberous sclerosis 2 | 4 | May 17, 2024 |
Tyrosinase-positive oculocutaneous albinism | 1 | Aug 1, 2024 |
Ullrich congenital muscular dystrophy 1A | 1 | Apr 4, 2024 |
Ulnar-mammary syndrome | 2 | Apr 4, 2024 |
Upshaw-Schulman syndrome | 4 | Aug 1, 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 | 3 | Sep 4, 2024 |
Vesicoureteral reflux 8 | 1 | Apr 4, 2024 |
Vissers-Bodmer syndrome | 2 | May 6, 2024 |
Vitelliform macular dystrophy 2 | 1 | May 28, 2024 |
Waardenburg syndrome type 2A | 1 | Sep 4, 2024 |
White-Kernohan syndrome | 1 | May 28, 2024 |
Wieacker-Wolff syndrome | 1 | May 16, 2024 |
Wiedemann-Steiner syndrome | 4 | Aug 1, 2024 |
Wilms tumor 1 | 1 | Jul 1, 2024 |
X-linked Alport syndrome | 47 | Sep 4, 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 | 2 | Aug 1, 2024 |
ZTTK syndrome | 2 | May 20, 2024 |
Zimmermann-laband syndrome 3 | 1 | May 6, 2024 |