3 beta-Hydroxysteroid dehydrogenase deficiency | 2 | Nov 24, 2023 |
3-Methylglutaconic aciduria type 3 | 1 | Oct 19, 2023 |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Feb 2, 2022 |
3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Nov 30, 2023 |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Oct 19, 2023 |
3M syndrome 1 | 4 | Oct 27, 2023 |
3M syndrome 2 | 2 | Nov 3, 2023 |
3MC syndrome 2 | 2 | Oct 19, 2023 |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Oct 19, 2023 |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Dec 12, 2023 |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Nov 23, 2023 |
ALG11-congenital disorder of glycosylation | 1 | Oct 19, 2023 |
ALG3-congenital disorder of glycosylation | 1 | Feb 2, 2022 |
ALG6-congenital disorder of glycosylation 1C | 1 | Nov 23, 2023 |
Abdominal obesity-metabolic syndrome 4 | 1 | Nov 23, 2023 |
Abetalipoproteinaemia | 1 | Oct 19, 2023 |
Abortive cerebellar ataxia | 2 | Oct 19, 2023 |
Achondroplasia | 2 | Nov 23, 2023 |
Achromatopsia 2 | 4 | Oct 27, 2023 |
Acne inversa, familial, 2 | 1 | Oct 19, 2023 |
Acrocephalosyndactyly type I | 2 | Feb 2, 2022 |
Acroerythrokeratoderma | 1 | Dec 9, 2023 |
Actin accumulation myopathy | 1 | Dec 7, 2023 |
Acute intermittent porphyria | 5 | Oct 27, 2023 |
Acute myeloid leukemia | 1 | Oct 19, 2023 |
Acyl-CoA oxidase deficiency | 2 | Oct 27, 2023 |
Adams-Oliver syndrome 1 | 2 | Oct 19, 2023 |
Adams-Oliver syndrome 2 | 1 | Dec 9, 2023 |
Adenylosuccinate lyase deficiency | 2 | Mar 8, 2024 |
Adrenoleukodystrophy | 8 | Feb 18, 2024 |
Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Oct 19, 2023 |
Agammaglobulinemia 8, autosomal dominant | 3 | Oct 19, 2023 |
Agammaglobulinemia 9, autosomal recessive | 1 | Oct 19, 2023 |
Aicardi-Goutieres syndrome 2 | 2 | Nov 24, 2023 |
Aicardi-Goutieres syndrome 3 | 2 | Jan 9, 2023 |
Aicardi-Goutieres syndrome 4 | 1 | Feb 2, 2022 |
Aicardi-Goutieres syndrome 6 | 1 | Feb 2, 2022 |
Al-Raqad syndrome | 1 | Dec 9, 2023 |
Alacrima, achalasia, and intellectual disability syndrome | 1 | Oct 19, 2023 |
Alagille syndrome due to a JAG1 point mutation | 4 | Oct 19, 2023 |
Alagille syndrome due to a NOTCH2 point mutation | 1 | Dec 12, 2023 |
Aldosterone-producing adenoma with seizures and neurological abnormalities | 2 | Dec 7, 2023 |
Alexander disease | 1 | Oct 19, 2023 |
Alkaptonuria | 1 | Oct 27, 2023 |
Allan-Herndon-Dudley syndrome | 2 | Oct 27, 2023 |
Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 | Oct 19, 2023 |
Alstrom syndrome | 5 | Dec 12, 2023 |
Alternating hemiplegia of childhood 1 | 1 | Jan 9, 2023 |
Alternating hemiplegia of childhood 2 | 3 | Nov 3, 2023 |
Alzheimer disease 3 | 2 | Oct 27, 2023 |
Alzheimer disease 9 | 6 | Oct 19, 2023 |
Alzheimer disease type 1 | 2 | Oct 19, 2023 |
Amelocerebrohypohidrotic syndrome | 2 | Oct 19, 2023 |
Amelogenesis imperfecta type 1G | 1 | Dec 12, 2023 |
Amyotrophic lateral sclerosis type 1 | 3 | Dec 12, 2023 |
Amyotrophic lateral sclerosis type 21 | 1 | Oct 19, 2023 |
Amyotrophic lateral sclerosis type 4 | 5 | Nov 24, 2023 |
Amyotrophic lateral sclerosis type 6 | 3 | Oct 19, 2023 |
Androgen resistance syndrome | 2 | Feb 2, 2022 |
Anemia, congenital dyserythropoietic, type 1a | 3 | Oct 30, 2023 |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 6 | Dec 12, 2023 |
Anencephaly 2 | 1 | Nov 24, 2023 |
Angelman syndrome | 2 | Oct 19, 2023 |
Annular epidermolytic ichthyosis | 1 | Feb 2, 2022 |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 2 | Oct 19, 2023 |
Anterior segment dysgenesis 6 | 1 | Dec 9, 2023 |
Aortic aneurysm, familial thoracic 4 | 1 | Oct 19, 2023 |
Aortic valve disease 2 | 1 | Oct 19, 2023 |
Aortic valve disease 3 | 1 | Oct 19, 2023 |
Apparent mineralocorticoid excess | 1 | Dec 9, 2023 |
Arginase deficiency | 2 | Dec 9, 2023 |
Argininosuccinate lyase deficiency | 1 | Nov 3, 2023 |
Ariboflavinosis | 1 | Oct 19, 2023 |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Oct 19, 2023 |
Arrhythmogenic right ventricular dysplasia 13 | 2 | Dec 7, 2023 |
Arrhythmogenic right ventricular dysplasia 2 | 1 | Feb 2, 2022 |
Arrhythmogenic right ventricular dysplasia 5 | 1 | Feb 2, 2022 |
Arrhythmogenic right ventricular dysplasia 9 | 3 | Oct 30, 2023 |
Arthrogryposis multiplex congenita 3, myogenic type | 5 | Oct 19, 2023 |
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | Dec 7, 2023 |
Arthrogryposis multiplex congenita 6 | 2 | Dec 12, 2023 |
Arthrogryposis, distal, IIa 11 | 1 | Dec 12, 2023 |
Arthrogryposis, distal, with impaired proprioception and touch | 3 | Oct 27, 2023 |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Oct 19, 2023 |
Asphyxiating thoracic dystrophy 3 | 4 | Nov 23, 2023 |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Oct 19, 2023 |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | Jan 9, 2023 |
Ataxia-pancytopenia syndrome | 1 | Dec 9, 2023 |
Ataxia-telangiectasia syndrome | 18 | Oct 27, 2023 |
Ataxia-telangiectasia-like disorder 1 | 2 | Dec 7, 2023 |
Atrial fibrillation, familial, 7 | 3 | Dec 7, 2023 |
Atrial septal defect 7 | 1 | Oct 19, 2023 |
Atrial standstill 1 | 1 | Nov 24, 2023 |
Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Dec 7, 2023 |
Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Oct 27, 2023 |
Atypical hemolytic-uremic syndrome with I factor anomaly | 1 | Nov 24, 2023 |
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Oct 19, 2023 |
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 | Mar 15, 2024 |
Auditory neuropathy-optic atrophy syndrome | 2 | Feb 2, 2022 |
Autism, susceptibility to, 5 | 2 | Jan 9, 2023 |
Autism, susceptibility to, X-linked 3 | 1 | Nov 24, 2023 |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 3 | Oct 19, 2023 |
Autoimmune interstitial lung disease-arthritis syndrome | 1 | Oct 19, 2023 |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | 1 | Feb 2, 2022 |
Autoimmune lymphoproliferative syndrome type 2A | 1 | Oct 19, 2023 |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Dec 12, 2023 |
Autoinflammatory syndrome, familial, Behcet-like 1 | 2 | Dec 7, 2023 |
Autosomal dominant Alport syndrome | 2 | Dec 7, 2023 |
Autosomal dominant Parkinson disease 8 | 2 | Dec 7, 2023 |
Autosomal dominant Robinow syndrome 1 | 1 | Nov 3, 2023 |
Autosomal dominant aplasia and myelodysplasia | 1 | Oct 19, 2023 |
Autosomal dominant centronuclear myopathy | 1 | Feb 2, 2022 |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Dec 7, 2023 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Feb 2, 2022 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Oct 27, 2023 |
Autosomal dominant distal renal tubular acidosis | 1 | Oct 19, 2023 |
Autosomal dominant hypocalcemia 1 | 2 | Oct 19, 2023 |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Dec 12, 2023 |
Autosomal dominant limb-girdle muscular dystrophy type 1F | 2 | Oct 19, 2023 |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 1 | Oct 19, 2023 |
Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Feb 2, 2022 |
Autosomal dominant nocturnal frontal lobe epilepsy 5 | 3 | Dec 7, 2023 |
Autosomal dominant nonsyndromic hearing loss 11 | 1 | Feb 2, 2022 |
Autosomal dominant nonsyndromic hearing loss 17 | 1 | Feb 2, 2022 |
Autosomal dominant nonsyndromic hearing loss 20 | 1 | Oct 27, 2023 |
Autosomal dominant nonsyndromic hearing loss 22 | 1 | Oct 19, 2023 |
Autosomal dominant nonsyndromic hearing loss 2A | 2 | Oct 27, 2023 |
Autosomal dominant nonsyndromic hearing loss 3B | 1 | Oct 19, 2023 |
Autosomal dominant nonsyndromic hearing loss 4A | 2 | Dec 7, 2023 |
Autosomal dominant osteopetrosis 1 | 1 | Oct 27, 2023 |
Autosomal dominant osteopetrosis 2 | 1 | Oct 27, 2023 |
Autosomal dominant sensory ataxia 1 | 1 | Dec 9, 2023 |
Autosomal recessive Alport syndrome | 8 | Dec 12, 2023 |
Autosomal recessive DOPA responsive dystonia | 6 | Dec 12, 2023 |
Autosomal recessive Robinow syndrome | 1 | Nov 23, 2023 |
Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Dec 7, 2023 |
Autosomal recessive ataxia, Beauce type | 1 | Oct 19, 2023 |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 | Oct 19, 2023 |
Autosomal recessive complex spastic paraplegia type 9B | 1 | Jan 9, 2023 |
Autosomal recessive congenital ichthyosis 1 | 8 | Dec 7, 2023 |
Autosomal recessive congenital ichthyosis 10 | 3 | Nov 3, 2023 |
Autosomal recessive congenital ichthyosis 4A | 2 | Dec 9, 2023 |
Autosomal recessive congenital ichthyosis 4B | 2 | Oct 19, 2023 |
Autosomal recessive congenital ichthyosis 5 | 1 | Oct 19, 2023 |
Autosomal recessive congenital ichthyosis 6 | 2 | Oct 19, 2023 |
Autosomal recessive congenital ichthyosis 9 | 1 | Oct 19, 2023 |
Autosomal recessive distal spinal muscular atrophy 1 | 1 | Feb 2, 2022 |
Autosomal recessive distal spinal muscular atrophy 2 | 2 | Oct 19, 2023 |
Autosomal recessive early-onset Parkinson disease 23 | 2 | Oct 19, 2023 |
Autosomal recessive early-onset Parkinson disease 6 | 2 | Oct 27, 2023 |
Autosomal recessive early-onset Parkinson disease 7 | 1 | Feb 2, 2022 |
Autosomal recessive hypophosphatemic bone disease | 2 | Oct 27, 2023 |
Autosomal recessive inherited pseudoxanthoma elasticum | 3 | Nov 30, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 17 | Dec 9, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 22 | Nov 23, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 5 | Dec 9, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 6 | Dec 7, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 9 | Nov 24, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 | Oct 19, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Oct 19, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2M | 2 | Oct 19, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 | Oct 19, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 | Dec 12, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 | Oct 19, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | Oct 19, 2023 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Oct 19, 2023 |
Autosomal recessive nonsyndromic hearing loss 12 | 2 | Oct 19, 2023 |
Autosomal recessive nonsyndromic hearing loss 18A | 1 | Dec 7, 2023 |
Autosomal recessive nonsyndromic hearing loss 18B | 2 | Oct 27, 2023 |
Autosomal recessive nonsyndromic hearing loss 1A | 2 | Dec 12, 2023 |
Autosomal recessive nonsyndromic hearing loss 22 | 1 | Feb 2, 2022 |
Autosomal recessive nonsyndromic hearing loss 24 | 1 | Oct 19, 2023 |
Autosomal recessive nonsyndromic hearing loss 28 | 1 | Nov 23, 2023 |
Autosomal recessive nonsyndromic hearing loss 3 | 3 | Oct 27, 2023 |
Autosomal recessive nonsyndromic hearing loss 30 | 2 | Dec 12, 2023 |
Autosomal recessive nonsyndromic hearing loss 36 | 2 | Dec 7, 2023 |
Autosomal recessive nonsyndromic hearing loss 4 | 5 | Feb 18, 2024 |
Autosomal recessive nonsyndromic hearing loss 6 | 2 | Dec 12, 2023 |
Autosomal recessive nonsyndromic hearing loss 7 | 2 | Dec 7, 2023 |
Autosomal recessive nonsyndromic hearing loss 70 | 1 | Dec 9, 2023 |
Autosomal recessive nonsyndromic hearing loss 77 | 2 | Dec 12, 2023 |
Autosomal recessive nonsyndromic hearing loss 79 | 1 | Dec 9, 2023 |
Autosomal recessive nonsyndromic hearing loss 86 | 1 | Dec 7, 2023 |
Autosomal recessive nonsyndromic hearing loss 9 | 2 | Dec 12, 2023 |
Autosomal recessive nonsyndromic hearing loss 93 | 2 | Dec 7, 2023 |
Autosomal recessive osteopetrosis 1 | 3 | Dec 12, 2023 |
Autosomal recessive osteopetrosis 4 | 2 | Nov 23, 2023 |
Autosomal recessive osteopetrosis 7 | 1 | Jan 9, 2023 |
Autosomal recessive osteopetrosis 8 | 1 | Nov 23, 2023 |
Autosomal recessive pseudohypoaldosteronism type 1 | 1 | Oct 27, 2023 |
Autosomal recessive spastic paraplegia type 76 | 1 | Oct 19, 2023 |
Autosomal recessive spastic paraplegia type 78 | 3 | Oct 19, 2023 |
Autosomal recessive spinocerebellar ataxia 14 | 6 | Oct 19, 2023 |
Autosomal recessive spinocerebellar ataxia 16 | 1 | Oct 19, 2023 |
Autosomal recessive spinocerebellar ataxia 2 | 1 | Oct 27, 2023 |
Autosomal recessive spinocerebellar ataxia 20 | 1 | Jan 9, 2023 |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | Oct 19, 2023 |
Baller-Gerold syndrome | 2 | Oct 19, 2023 |
Bardet-Biedl syndrome 1 | 1 | Oct 19, 2023 |
Bardet-Biedl syndrome 10 | 2 | Oct 19, 2023 |
Bardet-Biedl syndrome 12 | 2 | Oct 19, 2023 |
Bardet-Biedl syndrome 14 | 1 | Dec 7, 2023 |
Bardet-Biedl syndrome 2 | 3 | Oct 19, 2023 |
Bardet-Biedl syndrome 5 | 1 | Jan 9, 2023 |
Bardet-Biedl syndrome 6 | 1 | Oct 19, 2023 |
Bardet-Biedl syndrome 7 | 2 | Oct 19, 2023 |
Bardet-Biedl syndrome 8 | 2 | Nov 3, 2023 |
Bartter disease type 1 | 1 | Oct 19, 2023 |
Bartter disease type 2 | 1 | Nov 24, 2023 |
Bartter disease type 3 | 3 | Oct 19, 2023 |
Bartter disease type 4A | 1 | Dec 9, 2023 |
Beck-Fahrner syndrome | 2 | Oct 19, 2023 |
Becker muscular dystrophy | 2 | Oct 19, 2023 |
Benign familial hematuria | 2 | Oct 19, 2023 |
Benign recurrent intrahepatic cholestasis type 1 | 1 | Dec 12, 2023 |
Benign recurrent intrahepatic cholestasis type 2 | 2 | Oct 19, 2023 |
Beta-D-mannosidosis | 1 | Oct 19, 2023 |
Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 | Oct 19, 2023 |
Beta-thalassemia HBB/LCRB | 8 | Mar 18, 2024 |
Bethlem myopathy 1A | 7 | Oct 19, 2023 |
Bethlem myopathy 2 | 6 | Oct 27, 2023 |
Bifunctional peroxisomal enzyme deficiency | 5 | Dec 12, 2023 |
Bilateral frontoparietal polymicrogyria | 8 | Nov 24, 2023 |
Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Oct 19, 2023 |
Biotin-responsive basal ganglia disease | 1 | Nov 3, 2023 |
Biotinidase deficiency | 6 | Dec 12, 2023 |
Birt-Hogg-Dube syndrome | 1 | Feb 2, 2022 |
Blau syndrome | 2 | Oct 19, 2023 |
Blepharocheilodontic syndrome 1 | 1 | Nov 23, 2023 |
Blepharocheilodontic syndrome 2 | 1 | Feb 2, 2022 |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Oct 19, 2023 |
Blepharophimosis-impaired intellectual development syndrome | 1 | Jan 9, 2023 |
Bloom syndrome | 1 | Oct 27, 2023 |
Bone marrow failure syndrome 3 | 1 | Oct 19, 2023 |
Bone marrow failure syndrome 5 | 1 | Oct 19, 2023 |
Bone osteosarcoma | 1 | Dec 9, 2023 |
Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Oct 19, 2023 |
Brain small vessel disease 1 with or without ocular anomalies | 2 | Oct 19, 2023 |
Branchiooculofacial syndrome | 1 | Oct 27, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 29 | Dec 7, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 28 | Dec 12, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 3 | 3 | Oct 19, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 4 | 3 | Dec 9, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 5 | 2 | Dec 7, 2023 |
Brittle cornea syndrome 2 | 1 | Oct 19, 2023 |
Brown-Vialetto-van Laere syndrome 2 | 2 | Oct 27, 2023 |
Bruck syndrome 2 | 1 | Feb 2, 2022 |
Brugada syndrome 1 | 2 | Nov 23, 2023 |
Brugada syndrome 4 | 1 | Oct 19, 2023 |
Brugada syndrome 9 | 1 | Oct 19, 2023 |
Bullous ichthyosiform erythroderma | 1 | Feb 2, 2022 |
C1Q deficiency | 2 | Nov 24, 2023 |
CBL-related disorder | 2 | Dec 12, 2023 |
CHARGE association | 1 | Feb 2, 2022 |
COG1 congenital disorder of glycosylation | 1 | Oct 19, 2023 |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 1 | Oct 27, 2023 |
Candidiasis, familial, 6 | 1 | Oct 19, 2023 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 4 | Nov 23, 2023 |
Cardiac arrhythmia, ankyrin-B-related | 2 | Dec 7, 2023 |
Cardiac valvular defect, developmental | 1 | Dec 9, 2023 |
Cardiac, facial, and digital anomalies with developmental delay | 1 | Oct 19, 2023 |
Cardiofaciocutaneous syndrome 3 | 1 | Jan 9, 2023 |
Cardiomyopathy, dilated, 2F | 1 | Dec 7, 2023 |
Cardiomyopathy, familial hypertrophic 27 | 3 | Dec 12, 2023 |
Cardiomyopathy, familial hypertrophic, 28 | 1 | Oct 19, 2023 |
Cardiomyopathy, familial restrictive, 1 | 1 | Dec 7, 2023 |
Carnitine palmitoyl transferase 1A deficiency | 2 | Oct 19, 2023 |
Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Nov 3, 2023 |
Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | Nov 23, 2023 |
Catel-Manzke syndrome | 1 | Oct 19, 2023 |
Central core myopathy | 22 | Oct 19, 2023 |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 3 | Oct 27, 2023 |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2 | Nov 3, 2023 |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | Feb 2, 2022 |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Jan 9, 2023 |
Cerebellar atrophy with seizures and variable developmental delay | 2 | Dec 12, 2023 |
Cerebellar atrophy, developmental delay, and seizures | 1 | Oct 19, 2023 |
Cerebellar atrophy, visual impairment, and psychomotor retardation; | 1 | Oct 19, 2023 |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Dec 12, 2023 |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | 1 | Dec 9, 2023 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Oct 27, 2023 |
Cerebral folate transport deficiency | 3 | Oct 19, 2023 |
Cerebral palsy, spastic quadriplegic, 2 | 1 | Oct 19, 2023 |
Cerebroretinal microangiopathy with calcifications and cysts 1 | 3 | Nov 24, 2023 |
Ceroid lipofuscinosis, neuronal, 6A | 3 | Dec 7, 2023 |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Feb 2, 2022 |
Charcot-Marie-Tooth disease axonal type 2F | 1 | Dec 7, 2023 |
Charcot-Marie-Tooth disease axonal type 2O | 2 | Oct 19, 2023 |
Charcot-Marie-Tooth disease axonal type 2P | 2 | Oct 19, 2023 |
Charcot-Marie-Tooth disease axonal type 2Q | 2 | Feb 2, 2022 |
Charcot-Marie-Tooth disease axonal type 2S | 2 | Feb 2, 2022 |
Charcot-Marie-Tooth disease axonal type 2T | 4 | Oct 27, 2023 |
Charcot-Marie-Tooth disease axonal type 2Z | 2 | Nov 3, 2023 |
Charcot-Marie-Tooth disease dominant intermediate B | 2 | Oct 27, 2023 |
Charcot-Marie-Tooth disease dominant intermediate C | 1 | Nov 23, 2023 |
Charcot-Marie-Tooth disease recessive intermediate A | 2 | Oct 27, 2023 |
Charcot-Marie-Tooth disease recessive intermediate C | 3 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 1B | 1 | Oct 27, 2023 |
Charcot-Marie-Tooth disease type 1E | 1 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 1F | 1 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 2A1 | 1 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 2A2 | 6 | Oct 27, 2023 |
Charcot-Marie-Tooth disease type 2I | 1 | Oct 27, 2023 |
Charcot-Marie-Tooth disease type 4A | 2 | Oct 27, 2023 |
Charcot-Marie-Tooth disease type 4B1 | 1 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 4B2 | 1 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 4C | 4 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 4D | 1 | Feb 2, 2022 |
Charcot-Marie-Tooth disease type 4G | 1 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 4J | 1 | Oct 19, 2023 |
Charcot-Marie-Tooth disease type 4K | 1 | Dec 12, 2023 |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 | Oct 19, 2023 |
Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Nov 24, 2023 |
Charcot-Marie-Tooth disease, type IA | 3 | Oct 19, 2023 |
Charcot-marie-tooth disease, axonal, type 2DD | 2 | Dec 9, 2023 |
Charlevoix-Saguenay spastic ataxia | 9 | Dec 7, 2023 |
Childhood apraxia of speech | 1 | Jan 9, 2023 |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Feb 2, 2022 |
Cholestanol storage disease | 2 | Jan 9, 2023 |
Cholestasis, progressive familial intrahepatic, 4 | 2 | Oct 27, 2023 |
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 6 | Dec 7, 2023 |
Chondrodysplasia punctata 2 X-linked dominant | 2 | Oct 19, 2023 |
Chorea-acanthocytosis | 8 | Dec 7, 2023 |
Christianson syndrome | 1 | Jan 9, 2023 |
Chylomicron retention disease | 1 | Jun 2, 2021 |
Chédiak-Higashi syndrome | 2 | Feb 2, 2022 |
Ciliary dyskinesia, primary, 40 | 2 | Oct 19, 2023 |
Ciliary dyskinesia, primary, 42 | 1 | Oct 19, 2023 |
Citrullinemia type I | 2 | Nov 3, 2023 |
Clark-Baraitser syndrome | 2 | Nov 23, 2023 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 3 | Oct 27, 2023 |
Classic dopamine transporter deficiency syndrome | 1 | Oct 19, 2023 |
Classic homocystinuria | 6 | Dec 9, 2023 |
Cobalamin C disease | 3 | Dec 9, 2023 |
Cockayne syndrome type 2 | 4 | Nov 3, 2023 |
Coenzyme Q10 deficiency, primary, 1 | 1 | Oct 19, 2023 |
Coffin-Siris syndrome 6 | 1 | Jan 9, 2023 |
Cognitive impairment with or without cerebellar ataxia | 1 | Oct 27, 2023 |
Cohen syndrome | 3 | Dec 9, 2023 |
Colorectal cancer, hereditary nonpolyposis, type 2 | 11 | Dec 9, 2023 |
Colorectal cancer, susceptibility to, 10 | 2 | Oct 19, 2023 |
Colorectal cancer, susceptibility to, 12 | 4 | Oct 19, 2023 |
Combined immunodeficiency due to DOCK8 deficiency | 10 | Dec 9, 2023 |
Combined immunodeficiency due to LRBA deficiency | 10 | Dec 7, 2023 |
Combined oxidative phosphorylation defect type 11 | 1 | Oct 19, 2023 |
Combined oxidative phosphorylation defect type 13 | 2 | Oct 19, 2023 |
Combined oxidative phosphorylation defect type 20 | 1 | Nov 23, 2023 |
Combined oxidative phosphorylation defect type 21 | 1 | Oct 19, 2023 |
Combined oxidative phosphorylation defect type 23 | 2 | Dec 12, 2023 |
Combined oxidative phosphorylation defect type 24 | 2 | Jan 9, 2023 |
Combined oxidative phosphorylation deficiency 35 | 1 | Oct 19, 2023 |
Combined oxidative phosphorylation deficiency 36 | 1 | Dec 7, 2023 |
Combined oxidative phosphorylation deficiency 44 | 1 | Oct 19, 2023 |
Combined oxidative phosphorylation deficiency 55 | 2 | Dec 9, 2023 |
Complement component 5 deficiency | 1 | Oct 19, 2023 |
Complement component 6 deficiency | 1 | Dec 12, 2023 |
Complex cortical dysplasia with other brain malformations 1 | 1 | Oct 19, 2023 |
Complex cortical dysplasia with other brain malformations 2 | 2 | Jan 9, 2023 |
Complex cortical dysplasia with other brain malformations 3 | 1 | Nov 24, 2023 |
Complex cortical dysplasia with other brain malformations 5 | 2 | Feb 2, 2022 |
Conduction disorder of the heart | 1 | Oct 19, 2023 |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 | Oct 27, 2023 |
Congenital adrenal hypoplasia, X-linked | 3 | Oct 19, 2023 |
Congenital afibrinogenemia | 2 | Oct 19, 2023 |
Congenital amegakaryocytic thrombocytopenia | 1 | Oct 19, 2023 |
Congenital anomalies of kidney and urinary tract 3 | 2 | Feb 2, 2022 |
Congenital bile acid synthesis defect 1 | 3 | Dec 9, 2023 |
Congenital bile acid synthesis defect 2 | 2 | Oct 19, 2023 |
Congenital bile acid synthesis defect 3 | 1 | Oct 19, 2023 |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Oct 27, 2023 |
Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Jan 9, 2023 |
Congenital contractural arachnodactyly | 2 | Dec 7, 2023 |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 4 | Nov 23, 2023 |
Congenital diarrhea 5 with tufting enteropathy | 1 | Oct 19, 2023 |
Congenital diarrhea 7 with exudative enteropathy | 1 | Feb 2, 2022 |
Congenital disorder of deglycosylation 1 | 1 | Oct 19, 2023 |
Congenital dyserythropoietic anemia type 4 | 2 | Dec 7, 2023 |
Congenital dyserythropoietic anemia, type II | 1 | Feb 2, 2022 |
Congenital factor V deficiency | 1 | Dec 7, 2023 |
Congenital factor VII deficiency | 2 | Dec 7, 2023 |
Congenital generalized lipodystrophy type 1 | 3 | Dec 12, 2023 |
Congenital generalized lipodystrophy type 2 | 1 | Oct 19, 2023 |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Feb 2, 2022 |
Congenital hyperammonemia, type I | 1 | Oct 19, 2023 |
Congenital microvillous atrophy | 3 | Feb 2, 2022 |
Congenital multicore myopathy with external ophthalmoplegia | 2 | Dec 12, 2023 |
Congenital muscular dystrophy due to LMNA mutation | 2 | Dec 7, 2023 |
Congenital muscular dystrophy with cataracts and intellectual disability | 1 | Nov 23, 2023 |
Congenital muscular hypertrophy-cerebral syndrome | 1 | Feb 2, 2022 |
Congenital myasthenic syndrome 10 | 2 | Oct 19, 2023 |
Congenital myasthenic syndrome 12 | 2 | Dec 9, 2023 |
Congenital myasthenic syndrome 19 | 1 | Dec 12, 2023 |
Congenital myasthenic syndrome 1A | 2 | Oct 19, 2023 |
Congenital myasthenic syndrome 2A | 1 | Nov 23, 2023 |
Congenital myasthenic syndrome 2C | 1 | Oct 19, 2023 |
Congenital myasthenic syndrome 3B | 1 | Oct 19, 2023 |
Congenital myasthenic syndrome 4A | 1 | Oct 19, 2023 |
Congenital myasthenic syndrome 4B | 3 | Dec 9, 2023 |
Congenital myasthenic syndrome 4C | 1 | Nov 3, 2023 |
Congenital myasthenic syndrome 5 | 2 | Dec 7, 2023 |
Congenital myasthenic syndrome 8 | 2 | Feb 2, 2022 |
Congenital myasthenic syndrome 9 | 1 | Oct 19, 2023 |
Congenital myopathy 23 | 2 | Oct 27, 2023 |
Congenital myopathy 4A, autosomal dominant | 3 | Nov 3, 2023 |
Congenital myopathy 4B, autosomal recessive | 1 | Oct 19, 2023 |
Congenital myotonia, autosomal dominant form | 2 | Oct 19, 2023 |
Congenital myotonia, autosomal recessive form | 10 | Dec 7, 2023 |
Congenital stationary night blindness 1B | 1 | Dec 12, 2023 |
Congenital stationary night blindness 1C | 1 | Feb 2, 2022 |
Corneal dystrophy, Fuchs endothelial, 3 | 1 | Nov 24, 2023 |
Corneal dystrophy, Fuchs endothelial, 8 | 1 | Dec 7, 2023 |
Cornelia de Lange syndrome 1 | 1 | Oct 27, 2023 |
Cortical dysplasia-focal epilepsy syndrome | 1 | Nov 24, 2023 |
Costello syndrome | 1 | Nov 23, 2023 |
Cowden syndrome 1 | 3 | Nov 3, 2023 |
Cowden syndrome 6 | 1 | Oct 19, 2023 |
Cowden syndrome 7 | 1 | Nov 3, 2023 |
Cranioectodermal dysplasia 1 | 1 | Oct 19, 2023 |
Craniolenticulosutural dysplasia | 1 | Oct 30, 2023 |
Crigler-Najjar syndrome, type II | 4 | Oct 27, 2023 |
Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 | Oct 19, 2023 |
Cutaneous porphyria | 1 | Dec 12, 2023 |
Cystic fibrosis | 28 | Dec 12, 2023 |
Cystinuria | 2 | Nov 24, 2023 |
D,L-2-hydroxyglutaric aciduria | 1 | Dec 12, 2023 |
DEGCAGS syndrome | 1 | Jan 9, 2023 |
DOCK2 deficiency | 1 | Oct 19, 2023 |
DOORS syndrome | 1 | Feb 2, 2022 |
DYRK1A-related intellectual disability syndrome | 3 | Dec 7, 2023 |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Oct 27, 2023 |
Deficiency of acetyl-CoA acetyltransferase | 3 | Nov 3, 2023 |
Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Oct 19, 2023 |
Deficiency of butyryl-CoA dehydrogenase | 2 | Dec 9, 2023 |
Deficiency of butyrylcholinesterase | 3 | Dec 12, 2023 |
Deficiency of cytochrome-b5 reductase | 2 | Oct 19, 2023 |
Deficiency of ferroxidase | 1 | Oct 19, 2023 |
Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Oct 19, 2023 |
Deficiency of iodide peroxidase | 1 | Oct 27, 2023 |
Deficiency of steroid 11-beta-monooxygenase | 2 | Oct 27, 2023 |
Deficiency of steroid 17-alpha-monooxygenase | 2 | Oct 19, 2023 |
Deficiency of transaldolase | 1 | Oct 19, 2023 |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 3 | Dec 9, 2023 |
Dent disease type 1 | 2 | Oct 27, 2023 |
Desbuquois dysplasia 2 | 1 | Oct 19, 2023 |
Desmin-related myofibrillar myopathy | 3 | Oct 27, 2023 |
Developmental and epileptic encephalopathy 106 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy 6B | 5 | Dec 9, 2023 |
Developmental and epileptic encephalopathy 94 | 3 | Oct 19, 2023 |
Developmental and epileptic encephalopathy 99 | 1 | Jan 9, 2023 |
Developmental and epileptic encephalopathy, 1 | 4 | Feb 18, 2024 |
Developmental and epileptic encephalopathy, 11 | 20 | Dec 12, 2023 |
Developmental and epileptic encephalopathy, 12 | 2 | Feb 2, 2022 |
Developmental and epileptic encephalopathy, 13 | 6 | Dec 7, 2023 |
Developmental and epileptic encephalopathy, 14 | 8 | Oct 27, 2023 |
Developmental and epileptic encephalopathy, 15 | 1 | Feb 2, 2022 |
Developmental and epileptic encephalopathy, 16 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 18 | 5 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 2 | 8 | Oct 27, 2023 |
Developmental and epileptic encephalopathy, 23 | 2 | Feb 2, 2022 |
Developmental and epileptic encephalopathy, 26 | 3 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 27 | 8 | Dec 7, 2023 |
Developmental and epileptic encephalopathy, 28 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 29 | 4 | Dec 9, 2023 |
Developmental and epileptic encephalopathy, 3 | 2 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 30 | 3 | Nov 24, 2023 |
Developmental and epileptic encephalopathy, 31 | 3 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 32 | 1 | Jan 9, 2023 |
Developmental and epileptic encephalopathy, 33 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 36 | 4 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 38 | 1 | Jan 9, 2023 |
Developmental and epileptic encephalopathy, 39 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 4 | 5 | Dec 7, 2023 |
Developmental and epileptic encephalopathy, 41 | 3 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 42 | 9 | Feb 18, 2024 |
Developmental and epileptic encephalopathy, 45 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 46 | 7 | Dec 7, 2023 |
Developmental and epileptic encephalopathy, 47 | 2 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 5 | 4 | Oct 27, 2023 |
Developmental and epileptic encephalopathy, 50 | 1 | Jan 9, 2023 |
Developmental and epileptic encephalopathy, 52 | 1 | Dec 7, 2023 |
Developmental and epileptic encephalopathy, 54 | 1 | Oct 27, 2023 |
Developmental and epileptic encephalopathy, 57 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 58 | 1 | Jan 9, 2023 |
Developmental and epileptic encephalopathy, 59 | 2 | Nov 24, 2023 |
Developmental and epileptic encephalopathy, 62 | 3 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 63 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 64 | 6 | Dec 9, 2023 |
Developmental and epileptic encephalopathy, 66 | 2 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 67 | 2 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 69 | 5 | Nov 23, 2023 |
Developmental and epileptic encephalopathy, 7 | 14 | Dec 12, 2023 |
Developmental and epileptic encephalopathy, 72 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 73 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 75 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 76 | 2 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 79 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 81 | 1 | Jan 27, 2023 |
Developmental and epileptic encephalopathy, 83 | 1 | Jan 9, 2023 |
Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2 | Dec 9, 2023 |
Developmental and epileptic encephalopathy, 87 | 1 | Oct 19, 2023 |
Developmental and epileptic encephalopathy, 9 | 4 | Dec 7, 2023 |
Developmental and epileptic encephalopathy, 90 | 1 | Nov 24, 2023 |
Developmental delay with autism spectrum disorder and gait instability | 1 | Nov 24, 2023 |
Developmental delay with or without dysmorphic facies and autism | 4 | Oct 19, 2023 |
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | 1 | Dec 7, 2023 |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 4 | Oct 19, 2023 |
Developmental delay with variable neurologic and brain abnormalities | 1 | Dec 7, 2023 |
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 2 | Dec 7, 2023 |
Developmental delay, impaired speech, and behavioral abnormalities | 1 | Nov 23, 2023 |
Diabetes mellitus, permanent neonatal 2 | 2 | Oct 19, 2023 |
Diabetes mellitus, transient neonatal, 2 | 2 | Dec 7, 2023 |
Diamond-Blackfan anemia 1 | 2 | Oct 19, 2023 |
Diamond-Blackfan anemia 3 | 2 | Oct 19, 2023 |
Diaphyseal dysplasia | 1 | Oct 19, 2023 |
Dias-Logan syndrome | 1 | Nov 23, 2023 |
Diastrophic dysplasia | 1 | Oct 19, 2023 |
Diets-Jongmans syndrome | 1 | Nov 24, 2023 |
Dihydropteridine reductase deficiency | 1 | Oct 19, 2023 |
Dilated cardiomyopathy 1CC | 1 | Oct 19, 2023 |
Dilated cardiomyopathy 1D | 1 | Oct 19, 2023 |
Dilated cardiomyopathy 1E | 1 | Oct 19, 2023 |
Dilated cardiomyopathy 1G | 1 | Nov 23, 2023 |
Dilated cardiomyopathy 1I | 1 | Dec 7, 2023 |
Dilated cardiomyopathy 1JJ | 4 | Dec 7, 2023 |
Dilated cardiomyopathy 1NN | 1 | Feb 2, 2022 |
Dilated cardiomyopathy 1O | 1 | Feb 2, 2022 |
Dilated cardiomyopathy 1S | 1 | Feb 2, 2022 |
Dilated cardiomyopathy 1V | 1 | Feb 2, 2022 |
Dilated cardiomyopathy 1Z | 1 | Oct 19, 2023 |
Dilated cardiomyopathy 2A | 1 | Oct 27, 2023 |
Distal arthrogryposis type 5D | 1 | Oct 19, 2023 |
Distal myopathy with posterior leg and anterior hand involvement | 1 | Oct 19, 2023 |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Oct 19, 2023 |
Drash syndrome | 2 | Oct 19, 2023 |
Dubin-Johnson syndrome | 5 | Feb 18, 2024 |
Duchenne muscular dystrophy | 18 | Dec 9, 2023 |
Dyggve-Melchior-Clausen syndrome | 1 | Oct 19, 2023 |
Dyskeratosis congenita, autosomal dominant 2 | 1 | Oct 27, 2023 |
Dyskeratosis congenita, autosomal recessive 5 | 4 | Nov 24, 2023 |
Dyskinesia with orofacial involvement, autosomal dominant | 3 | Dec 7, 2023 |
Dystonia 12 | 1 | Oct 19, 2023 |
Dystonia 16 | 2 | Oct 27, 2023 |
Dystonia 24 | 1 | Oct 19, 2023 |
Dystonia 28, childhood-onset | 2 | Oct 27, 2023 |
Dystonia 33 | 1 | Nov 24, 2023 |
Dystonia 9 | 2 | Oct 19, 2023 |
EAST syndrome | 3 | Nov 24, 2023 |
Early-onset Parkinson disease 20 | 1 | Oct 19, 2023 |
Early-onset generalized limb-onset dystonia | 1 | Nov 3, 2023 |
Early-onset myopathy with fatal cardiomyopathy | 3 | Dec 12, 2023 |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 3 | Dec 7, 2023 |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 5 | Nov 3, 2023 |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 | Dec 12, 2023 |
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Oct 19, 2023 |
Ectopia lentis et pupillae | 1 | Oct 19, 2023 |
Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Oct 19, 2023 |
Ehlers-Danlos syndrome, arthrochalasia type | 1 | Nov 23, 2023 |
Ehlers-Danlos syndrome, cardiac valvular type | 1 | Oct 27, 2023 |
Ehlers-Danlos syndrome, classic type, 1 | 2 | Dec 12, 2023 |
Ehlers-Danlos syndrome, classic type, 2 | 1 | Feb 2, 2022 |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 | Dec 7, 2023 |
Eichsfeld type congenital muscular dystrophy | 2 | Nov 30, 2023 |
Elliptocytosis 1 | 3 | Nov 23, 2023 |
Elliptocytosis 2 | 4 | Dec 9, 2023 |
Ellis-van Creveld syndrome | 2 | Nov 23, 2023 |
Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Oct 19, 2023 |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Oct 19, 2023 |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 4 | Nov 24, 2023 |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 3 | Dec 7, 2023 |
Encephalopathy due to GLUT1 deficiency | 3 | Nov 3, 2023 |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2 | Oct 19, 2023 |
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 1 | Feb 2, 2022 |
Endometrial carcinoma | 5 | Dec 12, 2023 |
Enhanced S-cone syndrome | 1 | Oct 19, 2023 |
Enterokinase deficiency | 2 | Dec 12, 2023 |
Epicanthus | 1 | Feb 2, 2022 |
Epidermolysis bullosa simplex 1A, generalized severe | 2 | Oct 27, 2023 |
Epidermolysis bullosa simplex 1C, localized | 1 | Feb 2, 2022 |
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 1 | Oct 19, 2023 |
Epidermolysis bullosa simplex 5B, with muscular dystrophy | 1 | Feb 2, 2022 |
Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 | Oct 19, 2023 |
Epidermolysis bullosa simplex 7, with nephropathy and deafness | 1 | Feb 2, 2022 |
Epidermolysis bullosa simplex due to plakophilin deficiency | 1 | Feb 2, 2022 |
Epidermolysis bullosa simplex with nail dystrophy | 4 | Nov 24, 2023 |
Epidermolysis bullosa simplex, Koebner type | 1 | Feb 2, 2022 |
Epidermolysis bullosa, junctional 4, intermediate | 3 | Nov 24, 2023 |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Oct 19, 2023 |
Epilepsy, early-onset, vitamin B6-dependent | 1 | Jan 9, 2023 |
Epilepsy, familial focal, with variable foci 1 | 14 | Dec 9, 2023 |
Epilepsy, familial focal, with variable foci 2 | 2 | Dec 9, 2023 |
Epilepsy, familial focal, with variable foci 3 | 1 | Mar 15, 2024 |
Epilepsy, familial focal, with variable foci 4 | 2 | Jan 9, 2023 |
Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 | Jan 9, 2023 |
Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Jan 9, 2023 |
Epileptic encephalopathy, infantile or early childhood, 1 | 1 | Nov 24, 2023 |
Epileptic encephalopathy, infantile or early childhood, 3 | 1 | Oct 19, 2023 |
Episodic ataxia type 2 | 1 | Mar 18, 2024 |
Episodic kinesigenic dyskinesia 1 | 1 | Dec 7, 2023 |
Erythrocytosis, familial, 3 | 1 | Oct 19, 2023 |
Erythrocytosis, familial, 4 | 1 | Oct 19, 2023 |
Erythrocytosis, familial, 6 | 1 | Oct 19, 2023 |
Ethylmalonic encephalopathy | 3 | Dec 9, 2023 |
Exostoses, multiple, type 1 | 1 | Oct 19, 2023 |
Exostoses, multiple, type 2 | 1 | Oct 19, 2023 |
FG syndrome 2 | 1 | Nov 3, 2023 |
FG syndrome 4 | 2 | Jan 9, 2023 |
Fabry disease | 1 | Jun 2, 2021 |
Factor H deficiency | 1 | Dec 9, 2023 |
Factor XIII, A subunit, deficiency of | 1 | Oct 19, 2023 |
Familial Mediterranean fever | 1 | Dec 9, 2023 |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 5 | Dec 12, 2023 |
Familial adenomatous polyposis 1 | 7 | Mar 15, 2024 |
Familial adenomatous polyposis 2 | 2 | Feb 2, 2022 |
Familial adenomatous polyposis 4 | 1 | Oct 19, 2023 |
Familial amyloid nephropathy with urticaria AND deafness | 1 | Oct 19, 2023 |
Familial cancer of breast | 35 | Dec 12, 2023 |
Familial cold autoinflammatory syndrome 4 | 1 | Dec 9, 2023 |
Familial hemophagocytic lymphohistiocytosis 2 | 3 | Oct 30, 2023 |
Familial hemophagocytic lymphohistiocytosis 3 | 5 | Nov 24, 2023 |
Familial hemophagocytic lymphohistiocytosis 5 | 1 | Dec 12, 2023 |
Familial hyperaldosteronism type II | 1 | Oct 19, 2023 |
Familial hypocalciuric hypercalcemia 1 | 1 | Dec 7, 2023 |
Familial hypokalemia-hypomagnesemia | 6 | Nov 23, 2023 |
Familial idiopathic hypercalciuria | 3 | Oct 30, 2023 |
Familial isolated congenital asplenia | 1 | Dec 7, 2023 |
Familial juvenile hyperuricemic nephropathy type 1 | 4 | Dec 9, 2023 |
Familial juvenile hyperuricemic nephropathy type 2 | 1 | Feb 2, 2022 |
Familial partial lipodystrophy, Dunnigan type | 3 | Oct 19, 2023 |
Familial pulmonary capillary hemangiomatosis | 1 | Oct 19, 2023 |
Familial renal glucosuria | 1 | Oct 19, 2023 |
Familial temporal lobe epilepsy 5 | 2 | Nov 24, 2023 |
Familial temporal lobe epilepsy 7 | 2 | Dec 7, 2023 |
Fanconi anemia complementation group A | 22 | Dec 9, 2023 |
Fanconi anemia complementation group C | 3 | Oct 27, 2023 |
Fanconi anemia complementation group D1 | 2 | Oct 19, 2023 |
Fanconi anemia complementation group G | 2 | Nov 3, 2023 |
Fanconi anemia complementation group I | 4 | Dec 9, 2023 |
Fanconi anemia complementation group J | 2 | Oct 19, 2023 |
Fanconi anemia complementation group L | 2 | Oct 30, 2023 |
Fanconi anemia complementation group N | 2 | Oct 19, 2023 |
Fanconi anemia complementation group P | 2 | Dec 12, 2023 |
Fanconi renotubular syndrome 1 | 2 | Oct 19, 2023 |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Oct 19, 2023 |
Fanconi-Bickel syndrome | 1 | Oct 19, 2023 |
Farber lipogranulomatosis | 3 | Dec 12, 2023 |
Febrile seizures, familial, 2 | 1 | Dec 7, 2023 |
Febrile seizures, familial, 4 | 4 | Dec 7, 2023 |
Filippi syndrome | 1 | Oct 19, 2023 |
Finnish congenital nephrotic syndrome | 7 | Oct 19, 2023 |
Focal dermal hypoplasia | 1 | Feb 2, 2022 |
Focal segmental glomerulosclerosis 2 | 2 | Oct 19, 2023 |
Focal segmental glomerulosclerosis 8 | 2 | Oct 19, 2023 |
Fontaine progeroid syndrome | 1 | Oct 19, 2023 |
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 1 | Dec 12, 2023 |
Fraser syndrome 1 | 2 | Dec 9, 2023 |
Fraser syndrome 2 | 4 | Dec 12, 2023 |
Frontotemporal dementia | 1 | Oct 19, 2023 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Feb 2, 2022 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 2 | Oct 27, 2023 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 2 | Oct 27, 2023 |
Fucosidosis | 1 | Oct 19, 2023 |
GAPO syndrome | 1 | Dec 9, 2023 |
GM1 gangliosidosis type 2 | 2 | Oct 19, 2023 |
GNE myopathy | 8 | Dec 9, 2023 |
GNPTG-mucolipidosis | 2 | Nov 23, 2023 |
GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 1 | Feb 2, 2022 |
Galactosylceramide beta-galactosidase deficiency | 8 | Dec 9, 2023 |
Galloway-Mowat syndrome 1 | 2 | Jan 9, 2023 |
Galloway-Mowat syndrome 2, X-linked | 1 | Oct 27, 2023 |
Galloway-Mowat syndrome 3 | 1 | Oct 19, 2023 |
Gamma-glutamylcysteine synthetase deficiency | 1 | Nov 23, 2023 |
Gastrointestinal defects and immunodeficiency syndrome 1 | 1 | Oct 19, 2023 |
Gaucher disease type I | 2 | Feb 2, 2022 |
Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 | Oct 19, 2023 |
Generalized dominant dystrophic epidermolysis bullosa | 3 | Oct 27, 2023 |
Generalized epilepsy with febrile seizures plus, type 1 | 1 | Oct 19, 2023 |
Generalized epilepsy with febrile seizures plus, type 2 | 14 | Dec 7, 2023 |
Generalized epilepsy-paroxysmal dyskinesia syndrome | 2 | Dec 7, 2023 |
Ghosal hematodiaphyseal dysplasia | 1 | Oct 19, 2023 |
Giant axonal neuropathy 1 | 1 | Oct 27, 2023 |
Gilbert syndrome | 1 | Nov 24, 2023 |
Gillespie syndrome | 1 | Oct 19, 2023 |
Glanzmann thrombasthenia 1 | 5 | Dec 7, 2023 |
Glanzmann thrombasthenia 2 | 2 | Oct 19, 2023 |
Glaucoma 1, open angle, A | 1 | Dec 7, 2023 |
Glaucoma 1, open angle, G | 1 | Oct 27, 2023 |
Glaucoma 3A | 2 | Dec 7, 2023 |
Global developmental delay | 1 | Jan 27, 2023 |
Global developmental delay with or without impaired intellectual development | 2 | Nov 24, 2023 |
Global developmental delay with speech and behavioral abnormalities | 2 | Dec 7, 2023 |
Global developmental delay, progressive ataxia, and elevated glutamine | 1 | Nov 24, 2023 |
Glomerulopathy with fibronectin deposits 2 | 3 | Dec 7, 2023 |
Glomerulotubular Nephropathy | 1 | Feb 2, 2022 |
Glucocorticoid deficiency with achalasia | 3 | Dec 7, 2023 |
Glucose-6-phosphate transport defect | 2 | Dec 7, 2023 |
Glutamate pyruvate transaminase 2 deficiency | 2 | Oct 19, 2023 |
Glutaric aciduria, type 1 | 9 | Nov 23, 2023 |
Glycogen storage disease IXa1 | 2 | Oct 19, 2023 |
Glycogen storage disease IXb | 4 | Dec 7, 2023 |
Glycogen storage disease IXc | 3 | Oct 19, 2023 |
Glycogen storage disease IXd | 1 | Dec 7, 2023 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 | Nov 24, 2023 |
Glycogen storage disease type III | 13 | Nov 23, 2023 |
Glycogen storage disease, type II | 4 | Dec 7, 2023 |
Glycogen storage disease, type IV | 2 | Feb 2, 2022 |
Glycogen storage disease, type V | 1 | Feb 2, 2022 |
Glycogen storage disease, type VI | 11 | Dec 9, 2023 |
Glycogen storage disorder due to hepatic glycogen synthase deficiency | 3 | Dec 12, 2023 |
Glycosylphosphatidylinositol biosynthesis defect 15 | 1 | Oct 19, 2023 |
Glycosylphosphatidylinositol biosynthesis defect 17 | 1 | Feb 2, 2022 |
Goldberg-Shprintzen syndrome | 1 | Oct 19, 2023 |
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 1 | Nov 24, 2023 |
Gordon syndrome | 2 | Oct 19, 2023 |
Granulomatous disease, chronic, X-linked | 1 | Oct 27, 2023 |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1 | Nov 23, 2023 |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 | Oct 19, 2023 |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 | Oct 19, 2023 |
Griscelli syndrome type 2 | 3 | Dec 7, 2023 |
Growth delay due to insulin-like growth factor I resistance | 1 | Oct 27, 2023 |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Oct 19, 2023 |
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Oct 19, 2023 |
HSD10 mitochondrial disease | 2 | Dec 12, 2023 |
Hb SS disease | 1 | Oct 19, 2023 |
Hearing loss, autosomal dominant 80 | 1 | Dec 7, 2023 |
Hearing loss, autosomal dominant 83 | 2 | Dec 9, 2023 |
Hearing loss, autosomal recessive 110 | 1 | Dec 12, 2023 |
Heart and brain malformation syndrome | 1 | Oct 19, 2023 |
Heart defect - tongue hamartoma - polysyndactyly syndrome | 1 | Oct 19, 2023 |
Hemolytic anemia due to glucophosphate isomerase deficiency | 3 | Mar 15, 2024 |
Hengel-Maroofian-Schols syndrome | 1 | Nov 24, 2023 |
Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 | Dec 12, 2023 |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | Oct 19, 2023 |
Hereditary attention deficit-hyperactivity disorder | 2 | Oct 19, 2023 |
Hereditary diffuse leukoencephalopathy with spheroids | 1 | Feb 2, 2022 |
Hereditary factor IX deficiency disease | 1 | Feb 2, 2022 |
Hereditary factor VIII deficiency disease | 8 | Oct 27, 2023 |
Hereditary factor XI deficiency disease | 5 | Dec 12, 2023 |
Hereditary insensitivity to pain with anhidrosis | 3 | Nov 23, 2023 |
Hereditary lymphedema type I | 1 | Oct 19, 2023 |
Hereditary pancreatitis | 11 | Feb 18, 2024 |
Hereditary persistence of fetal hemoglobin | 1 | Nov 24, 2023 |
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 1 | Dec 12, 2023 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Oct 19, 2023 |
Hereditary sensory neuropathy-deafness-dementia syndrome | 1 | Nov 24, 2023 |
Hereditary spastic paraplegia 10 | 2 | Oct 19, 2023 |
Hereditary spastic paraplegia 11 | 17 | Nov 24, 2023 |
Hereditary spastic paraplegia 15 | 2 | Dec 7, 2023 |
Hereditary spastic paraplegia 30 | 3 | Nov 3, 2023 |
Hereditary spastic paraplegia 31 | 1 | Dec 7, 2023 |
Hereditary spastic paraplegia 35 | 3 | Oct 27, 2023 |
Hereditary spastic paraplegia 4 | 1 | Oct 19, 2023 |
Hereditary spastic paraplegia 43 | 3 | Dec 9, 2023 |
Hereditary spastic paraplegia 46 | 1 | Oct 19, 2023 |
Hereditary spastic paraplegia 47 | 6 | Dec 7, 2023 |
Hereditary spastic paraplegia 48 | 2 | Feb 2, 2022 |
Hereditary spastic paraplegia 49 | 1 | Oct 19, 2023 |
Hereditary spastic paraplegia 56 | 2 | Dec 12, 2023 |
Hereditary spastic paraplegia 57 | 1 | Feb 2, 2022 |
Hereditary spastic paraplegia 6 | 1 | Feb 2, 2022 |
Hereditary spastic paraplegia 7 | 4 | Dec 12, 2023 |
Hereditary spastic paraplegia 73 | 1 | Dec 7, 2023 |
Hereditary spastic paraplegia 74 | 1 | Oct 19, 2023 |
Hereditary spastic paraplegia 75 | 1 | Oct 19, 2023 |
Hereditary spastic paraplegia 8 | 3 | Oct 27, 2023 |
Hereditary spherocytosis type 1 | 10 | Dec 7, 2023 |
Hereditary spherocytosis type 2 | 12 | Dec 7, 2023 |
Hereditary spherocytosis type 3 | 2 | Nov 23, 2023 |
Hereditary spherocytosis type 4 | 1 | Oct 27, 2023 |
Hereditary xanthinuria type 1 | 2 | Oct 27, 2023 |
Hermansky-Pudlak syndrome 1 | 2 | Nov 24, 2023 |
Hermansky-Pudlak syndrome 2 | 1 | Oct 19, 2023 |
Hermansky-Pudlak syndrome 3 | 1 | Dec 9, 2023 |
Hermansky-Pudlak syndrome 4 | 1 | Oct 19, 2023 |
Hermansky-Pudlak syndrome 5 | 1 | Feb 2, 2022 |
Hermansky-Pudlak syndrome 9 | 1 | Oct 19, 2023 |
Heterotaxy, visceral, 8, autosomal | 2 | Nov 3, 2023 |
Heterotopia, periventricular, X-linked dominant | 1 | Oct 19, 2023 |
Heyn-Sproul-Jackson syndrome | 2 | Jan 9, 2023 |
Hogue-Janssens syndrome 1 | 1 | Jan 9, 2023 |
Holocarboxylase synthetase deficiency | 1 | Dec 9, 2023 |
Holoprosencephaly 11 | 1 | Oct 19, 2023 |
Holoprosencephaly 9 | 2 | Oct 27, 2023 |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 4 | Nov 3, 2023 |
Hurler syndrome | 2 | Mar 15, 2024 |
Hyaline fibromatosis syndrome | 2 | Oct 19, 2023 |
Hydatidiform mole, recurrent, 1 | 1 | Oct 19, 2023 |
Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 | Nov 24, 2023 |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 3 | Oct 19, 2023 |
Hyperalphalipoproteinemia 1 | 1 | Oct 27, 2023 |
Hyperammonemia, type III | 1 | Feb 2, 2022 |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Dec 9, 2023 |
Hypercalcemia, infantile, 1 | 1 | Dec 12, 2023 |
Hypercalcemia, infantile, 2 | 2 | Oct 19, 2023 |
Hypercholesterolemia, autosomal dominant, type B | 1 | Oct 27, 2023 |
Hypercholesterolemia, familial, 1 | 5 | Dec 7, 2023 |
Hyperekplexia 3 | 1 | Oct 19, 2023 |
Hyperglycinuria | 3 | Nov 24, 2023 |
Hyperinsulinemic hypoglycemia, familial, 1 | 4 | Nov 23, 2023 |
Hyperinsulinism due to INSR deficiency | 1 | Dec 9, 2023 |
Hyperinsulinism-hyperammonemia syndrome | 3 | Oct 27, 2023 |
Hyperlipoproteinemia, type 1D | 1 | Oct 19, 2023 |
Hyperlipoproteinemia, type I | 2 | Oct 19, 2023 |
Hyperparathyroidism, transient neonatal | 1 | Oct 19, 2023 |
Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Nov 23, 2023 |
Hyperphosphatasia with intellectual disability syndrome 3 | 1 | Oct 19, 2023 |
Hypertrophic cardiomyopathy 1 | 1 | Dec 9, 2023 |
Hypertrophic cardiomyopathy 14 | 3 | Oct 19, 2023 |
Hypertrophic cardiomyopathy 17 | 1 | Oct 27, 2023 |
Hypertrophic cardiomyopathy 26 | 2 | Dec 7, 2023 |
Hypertrophic cardiomyopathy 4 | 4 | Dec 12, 2023 |
Hypertrophic cardiomyopathy 8 | 1 | Dec 12, 2023 |
Hypertrophic cardiomyopathy 9 | 1 | Oct 19, 2023 |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 2 | Dec 12, 2023 |
Hypogonadotropic hypogonadism 14 with or without anosmia | 1 | Oct 19, 2023 |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Feb 2, 2022 |
Hypogonadotropic hypogonadism 22 with or without anosmia | 1 | Feb 2, 2022 |
Hypogonadotropic hypogonadism 7 with or without anosmia | 1 | Dec 7, 2023 |
Hypogonadotropic hypogonadism 8 with or without anosmia | 1 | Feb 2, 2022 |
Hypohidrotic X-linked ectodermal dysplasia | 1 | Oct 19, 2023 |
Hypokalemic periodic paralysis, type 2 | 1 | Oct 27, 2023 |
Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Oct 19, 2023 |
Hypomyelinating leukodystrophy 10 | 1 | Feb 2, 2022 |
Hypomyelinating leukodystrophy 11 | 6 | Dec 9, 2023 |
Hypomyelinating leukodystrophy 13 | 1 | Oct 19, 2023 |
Hypomyelinating leukodystrophy 2 | 2 | Oct 19, 2023 |
Hypomyelinating leukodystrophy 3 | 1 | Oct 19, 2023 |
Hypomyelinating leukodystrophy 6 | 1 | Dec 7, 2023 |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 | Oct 27, 2023 |
Hypoparathyroidism, deafness, renal disease syndrome | 2 | Dec 12, 2023 |
Hypoparathyroidism, familial isolated 1 | 1 | Oct 27, 2023 |
Hypotonia with lactic acidemia and hyperammonemia | 2 | Oct 19, 2023 |
Hypotonia, ataxia, and delayed development syndrome | 1 | Oct 19, 2023 |
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 1 | Oct 19, 2023 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 | Oct 19, 2023 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Feb 2, 2022 |
Hypotrichosis 8 | 1 | Dec 9, 2023 |
Ichthyosis prematurity syndrome | 1 | Oct 19, 2023 |
Ichthyosis vulgaris | 1 | Dec 9, 2023 |
Ichthyosis, annular epidermolytic, 2 | 1 | Dec 7, 2023 |
Ichthyosis, congenital, autosomal recessive 13 | 1 | Oct 19, 2023 |
Idiopathic basal ganglia calcification 1 | 1 | Oct 19, 2023 |
Idiopathic generalized epilepsy | 1 | Oct 19, 2023 |
Imerslund-Grasbeck syndrome type 1 | 1 | Oct 19, 2023 |
Imerslund-Grasbeck syndrome type 2 | 1 | Oct 19, 2023 |
Immunodeficiency 14 | 2 | Dec 7, 2023 |
Immunodeficiency 15a | 1 | Oct 19, 2023 |
Immunodeficiency 18 | 1 | Oct 19, 2023 |
Immunodeficiency 23 | 2 | Dec 12, 2023 |
Immunodeficiency 25 | 1 | Oct 19, 2023 |
Immunodeficiency 27A | 1 | Oct 19, 2023 |
Immunodeficiency 36 | 1 | Oct 19, 2023 |
Immunodeficiency 47 | 2 | Oct 19, 2023 |
Immunodeficiency 49 | 1 | Dec 7, 2023 |
Immunodeficiency 51 | 1 | Dec 9, 2023 |
Immunodeficiency 60 | 1 | Dec 7, 2023 |
Immunodeficiency 63 with lymphoproliferation and autoimmunity | 1 | Oct 19, 2023 |
Immunodeficiency 66 | 1 | Dec 9, 2023 |
Immunodeficiency 72 with autoinflammation | 1 | Oct 19, 2023 |
Immunodeficiency 83, susceptibility to viral infections | 1 | Oct 19, 2023 |
Immunodeficiency 89 and autoimmunity | 1 | Nov 24, 2023 |
Immunodeficiency due to MASP-2 deficiency | 1 | Oct 19, 2023 |
Immunodeficiency, common variable, 1 | 1 | Oct 19, 2023 |
Immunodeficiency, common variable, 10 | 3 | Dec 9, 2023 |
Immunodeficiency, common variable, 12 | 2 | Oct 27, 2023 |
Immunodeficiency, common variable, 14 | 1 | Oct 19, 2023 |
Immunodeficiency, common variable, 2 | 1 | Dec 7, 2023 |
Immunodeficiency, common variable, 7 | 1 | Feb 2, 2022 |
Immunodeficiency, developmental delay, and hypohomocysteinemia | 2 | Oct 19, 2023 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Dec 12, 2023 |
Immunoglobulin-mediated membranoproliferative glomerulonephritis | 5 | Oct 27, 2023 |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 1 | Nov 23, 2023 |
Infantile GM1 gangliosidosis | 7 | Oct 27, 2023 |
Infantile cerebellar-retinal degeneration | 1 | Jan 9, 2023 |
Infantile convulsions and choreoathetosis | 2 | Nov 3, 2023 |
Infantile hypophosphatasia | 2 | Nov 3, 2023 |
Infantile neuroaxonal dystrophy | 9 | Nov 23, 2023 |
Infantile osteopetrosis with neuroaxonal dysplasia | 1 | Oct 19, 2023 |
Infantile-onset X-linked spinal muscular atrophy | 1 | Oct 19, 2023 |
Infantile-onset ascending hereditary spastic paralysis | 3 | Nov 3, 2023 |
Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 | Oct 19, 2023 |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | Oct 27, 2023 |
Intellectual developmental disorder 61 | 1 | Jan 9, 2023 |
Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Dec 9, 2023 |
Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Oct 19, 2023 |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Jan 9, 2023 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Dec 12, 2023 |
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Oct 19, 2023 |
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Oct 19, 2023 |
Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Oct 19, 2023 |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 2 | Oct 19, 2023 |
Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 1 | Oct 19, 2023 |
Intellectual developmental disorder with seizures and language delay | 2 | Dec 9, 2023 |
Intellectual developmental disorder with severe speech and ambulation defects | 1 | Oct 19, 2023 |
Intellectual developmental disorder with short stature and variable skeletal anomalies | 1 | Dec 7, 2023 |
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Nov 23, 2023 |
Intellectual developmental disorder, X-linked 108 | 1 | Jan 9, 2023 |
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 1 | Dec 7, 2023 |
Intellectual developmental disorder, autosomal dominant 64 | 4 | Nov 24, 2023 |
Intellectual developmental disorder, autosomal recessive 68 | 1 | Feb 2, 2022 |
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 1 | Nov 24, 2023 |
Intellectual disability, Wolff type | 1 | Feb 2, 2022 |
Intellectual disability, X-linked 102 | 2 | Oct 19, 2023 |
Intellectual disability, X-linked 104 | 1 | Oct 19, 2023 |
Intellectual disability, X-linked 49 | 2 | Oct 19, 2023 |
Intellectual disability, X-linked 61 | 1 | Oct 19, 2023 |
Intellectual disability, X-linked 93 | 1 | Oct 19, 2023 |
Intellectual disability, X-linked 96 | 1 | Nov 24, 2023 |
Intellectual disability, X-linked 99, syndromic, female-restricted | 2 | Oct 27, 2023 |
Intellectual disability, X-linked syndromic, Turner type | 2 | Oct 27, 2023 |
Intellectual disability, X-linked, syndromic 33 | 2 | Oct 19, 2023 |
Intellectual disability, X-linked, syndromic, Bain type | 1 | Oct 19, 2023 |
Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Feb 2, 2022 |
Intellectual disability, autosomal dominant 1 | 4 | Oct 19, 2023 |
Intellectual disability, autosomal dominant 13 | 9 | Nov 24, 2023 |
Intellectual disability, autosomal dominant 16 | 1 | Nov 23, 2023 |
Intellectual disability, autosomal dominant 20 | 2 | Oct 19, 2023 |
Intellectual disability, autosomal dominant 24 | 1 | Oct 27, 2023 |
Intellectual disability, autosomal dominant 29 | 2 | Jan 9, 2023 |
Intellectual disability, autosomal dominant 39 | 2 | Feb 2, 2022 |
Intellectual disability, autosomal dominant 43 | 1 | Nov 24, 2023 |
Intellectual disability, autosomal dominant 45 | 3 | Oct 19, 2023 |
Intellectual disability, autosomal dominant 46 | 2 | Nov 23, 2023 |
Intellectual disability, autosomal dominant 5 | 4 | Oct 27, 2023 |
Intellectual disability, autosomal dominant 52 | 3 | Dec 7, 2023 |
Intellectual disability, autosomal dominant 53 | 1 | Jan 9, 2023 |
Intellectual disability, autosomal dominant 54 | 2 | Dec 12, 2023 |
Intellectual disability, autosomal dominant 55, with seizures | 2 | Jan 9, 2023 |
Intellectual disability, autosomal dominant 58 | 1 | Oct 19, 2023 |
Intellectual disability, autosomal dominant 6 | 1 | Oct 19, 2023 |
Intellectual disability, autosomal dominant 8 | 3 | Dec 7, 2023 |
Intellectual disability, autosomal dominant 9 | 5 | Nov 24, 2023 |
Intellectual disability, autosomal recessive 13 | 2 | Dec 9, 2023 |
Intellectual disability, autosomal recessive 3 | 1 | Oct 19, 2023 |
Intellectual disability, autosomal recessive 42 | 3 | Dec 7, 2023 |
Intellectual disability, autosomal recessive 53 | 1 | Oct 19, 2023 |
Intellectual disability, autosomal recessive 57 | 1 | Dec 7, 2023 |
Intellectual disability-epilepsy-extrapyramidal syndrome | 2 | Oct 27, 2023 |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 3 | Nov 24, 2023 |
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 6 | Feb 18, 2024 |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Feb 2, 2022 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 3 | Oct 19, 2023 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 4 | Oct 19, 2023 |
Interstitial lung disease due to ABCA3 deficiency | 1 | Oct 19, 2023 |
Intestinal hypomagnesemia 1 | 1 | Oct 19, 2023 |
Isolated focal cortical dysplasia type II | 1 | Dec 12, 2023 |
Isolated growth hormone deficiency, type 4 | 1 | Nov 3, 2023 |
Isolated neonatal sclerosing cholangitis | 1 | Feb 2, 2022 |
Isovaleryl-CoA dehydrogenase deficiency | 2 | Feb 2, 2022 |
Joubert syndrome 1 | 2 | Oct 27, 2023 |
Joubert syndrome 10 | 1 | Dec 7, 2023 |
Joubert syndrome 15 | 1 | Jan 9, 2023 |
Joubert syndrome 17 | 1 | Feb 2, 2022 |
Joubert syndrome 21 | 1 | Feb 2, 2022 |
Joubert syndrome 23 | 3 | Dec 7, 2023 |
Joubert syndrome 3 | 3 | Nov 24, 2023 |
Joubert syndrome 33 | 1 | Oct 27, 2023 |
Joubert syndrome 37 | 1 | Nov 24, 2023 |
Joubert syndrome 5 | 4 | Dec 12, 2023 |
Joubert syndrome 7 | 1 | Oct 19, 2023 |
Joubert syndrome 9 | 1 | Dec 9, 2023 |
Junctional epidermolysis bullosa gravis of Herlitz | 8 | Oct 30, 2023 |
Junctional epidermolysis bullosa with pyloric atresia | 3 | Nov 3, 2023 |
Junctional epidermolysis bullosa, non-Herlitz type | 7 | Oct 27, 2023 |
KBG syndrome | 5 | Nov 23, 2023 |
Kabuki syndrome 1 | 2 | Dec 12, 2023 |
Kabuki syndrome 2 | 1 | Oct 19, 2023 |
Keipert syndrome | 1 | Oct 19, 2023 |
Kindler syndrome | 1 | Feb 2, 2022 |
Kleefstra syndrome 1 | 2 | Oct 19, 2023 |
Kleefstra syndrome 2 | 1 | Oct 19, 2023 |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Dec 12, 2023 |
Knobloch syndrome 1 | 1 | Dec 9, 2023 |
Koolen-de Vries syndrome | 2 | Oct 27, 2023 |
Kufor-Rakeb syndrome | 1 | Oct 19, 2023 |
L-2-hydroxyglutaric aciduria | 3 | Oct 27, 2023 |
LAMB2-related infantile-onset nephrotic syndrome | 3 | Oct 27, 2023 |
LEOPARD syndrome 1 | 1 | Dec 12, 2023 |
Lafora disease | 3 | Oct 19, 2023 |
Landau-Kleffner syndrome | 3 | Jan 9, 2023 |
Laron-type isolated somatotropin defect | 2 | Oct 19, 2023 |
Larsen syndrome | 1 | Oct 19, 2023 |
Lattice corneal dystrophy Type I | 1 | Nov 24, 2023 |
Leber congenital amaurosis 1 | 3 | Oct 27, 2023 |
Leber congenital amaurosis 14 | 1 | Dec 12, 2023 |
Leber congenital amaurosis 2 | 2 | Nov 3, 2023 |
Leber congenital amaurosis 9 | 1 | Oct 19, 2023 |
Left ventricular noncompaction 1 | 2 | Oct 27, 2023 |
Left ventricular noncompaction 10 | 2 | Nov 3, 2023 |
Lethal Kniest-like syndrome | 2 | Oct 19, 2023 |
Lethal congenital contracture syndrome 1 | 1 | Nov 23, 2023 |
Lethal congenital contracture syndrome 2 | 1 | Oct 19, 2023 |
Lethal congenital contracture syndrome 7 | 1 | Dec 12, 2023 |
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 | Dec 7, 2023 |
Lethal multiple pterygium syndrome | 1 | Nov 23, 2023 |
Lethal tight skin contracture syndrome | 1 | Dec 12, 2023 |
Leukocyte adhesion deficiency 1 | 2 | Oct 19, 2023 |
Leukocyte adhesion deficiency 3 | 3 | Oct 19, 2023 |
Leukocyte adhesion deficiency type II | 1 | Feb 2, 2022 |
Leukodystrophy and acquired microcephaly with or without dystonia; | 2 | Oct 19, 2023 |
Leukodystrophy, hypomyelinating, 16 | 2 | Nov 24, 2023 |
Leukodystrophy, hypomyelinating, 17 | 1 | Nov 24, 2023 |
Leukodystrophy, hypomyelinating, 18 | 1 | Oct 19, 2023 |
Leukodystrophy, hypomyelinating, 19, transient infantile | 1 | Oct 19, 2023 |
Leukodystrophy, hypomyelinating, 20 | 2 | Jan 9, 2023 |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Oct 19, 2023 |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 | Dec 7, 2023 |
Leukoencephalopathy with vanishing white matter 1 | 8 | Nov 3, 2023 |
Leukoencephalopathy with vanishing white matter 3 | 1 | Nov 24, 2023 |
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 1 | Oct 19, 2023 |
Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 1 | Jan 27, 2023 |
Leukoencephalopathy, progressive, with ovarian failure | 2 | Oct 19, 2023 |
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 2 | Dec 9, 2023 |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2 | Dec 12, 2023 |
Lewy body dementia | 1 | Feb 18, 2024 |
Leydig cell agenesis | 1 | Feb 2, 2022 |
Li-Fraumeni syndrome 1 | 6 | Oct 19, 2023 |
Li-Fraumeni syndrome 2 | 1 | Oct 19, 2023 |
Liberfarb syndrome | 1 | Feb 2, 2022 |
Lipid proteinosis | 2 | Mar 18, 2024 |
Lipoyl transferase 1 deficiency | 2 | Nov 3, 2023 |
Lissencephaly 10 | 2 | Dec 7, 2023 |
Lissencephaly 9 with complex brainstem malformation | 3 | Dec 7, 2023 |
Lissencephaly due to LIS1 mutation | 1 | Oct 27, 2023 |
Lissencephaly due to TUBA1A mutation | 2 | Jan 9, 2023 |
Lissencephaly type 1 due to doublecortin gene mutation | 3 | Oct 19, 2023 |
Loeys-Dietz syndrome 2 | 1 | Oct 19, 2023 |
Loeys-Dietz syndrome 4 | 1 | Dec 12, 2023 |
Long QT syndrome 1 | 2 | Oct 19, 2023 |
Long QT syndrome 3 | 2 | Nov 3, 2023 |
Long QT syndrome 6 | 1 | Feb 2, 2022 |
Long qt syndrome 8 | 4 | Nov 3, 2023 |
Lowe syndrome | 4 | Nov 23, 2023 |
Lung cancer | 1 | Feb 2, 2022 |
Luscan-Lumish syndrome | 1 | Nov 24, 2023 |
Lymphatic malformation 3 | 1 | Dec 7, 2023 |
Lymphatic malformation 6 | 2 | Nov 23, 2023 |
Lymphoproliferative syndrome 1 | 1 | Feb 2, 2022 |
Lynch syndrome 1 | 10 | Dec 12, 2023 |
Lynch syndrome 4 | 6 | Nov 24, 2023 |
Lynch syndrome 5 | 9 | Dec 7, 2023 |
Lysosomal acid lipase deficiency | 3 | Oct 19, 2023 |
MEDNIK syndrome | 1 | Dec 9, 2023 |
MEGF10-related myopathy | 2 | Oct 19, 2023 |
MEGF8-related Carpenter syndrome | 2 | Nov 24, 2023 |
MEHMO syndrome | 3 | Nov 24, 2023 |
MEND syndrome | 1 | Dec 12, 2023 |
MOGS-congenital disorder of glycosylation | 2 | Oct 27, 2023 |
MYPN-related myopathy | 1 | Oct 19, 2023 |
Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Dec 7, 2023 |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 5 | Dec 12, 2023 |
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Oct 19, 2023 |
Macular degeneration, X-linked atrophic | 1 | Oct 19, 2023 |
Malan overgrowth syndrome | 2 | Dec 7, 2023 |
Malignant tumor of prostate | 1 | Dec 7, 2023 |
Mandibuloacral dysplasia progeroid syndrome | 1 | Oct 27, 2023 |
Mandibuloacral dysplasia with type A lipodystrophy | 1 | Dec 7, 2023 |
Maple syrup urine disease | 8 | Dec 9, 2023 |
Marden-Walker syndrome | 1 | Oct 19, 2023 |
Marfan syndrome | 7 | Oct 27, 2023 |
Marshall-Smith syndrome | 1 | Oct 19, 2023 |
Maturity-onset diabetes of the young type 4 | 1 | Feb 2, 2022 |
Meckel syndrome, type 2 | 1 | Nov 24, 2023 |
Meckel syndrome, type 3 | 1 | Oct 19, 2023 |
Meckel syndrome, type 5 | 1 | Oct 19, 2023 |
Meckel syndrome, type 6 | 3 | Nov 3, 2023 |
Meckel syndrome, type 9 | 1 | Nov 24, 2023 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Oct 27, 2023 |
Megaconial type congenital muscular dystrophy | 2 | Oct 19, 2023 |
Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | Dec 9, 2023 |
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 1 | Jan 9, 2023 |
Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Feb 2, 2022 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 | Nov 24, 2023 |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | Oct 19, 2023 |
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 4 | Oct 19, 2023 |
Menke-Hennekam syndrome 1 | 3 | Dec 7, 2023 |
Menkes kinky-hair syndrome | 1 | Nov 24, 2023 |
Meretoja syndrome | 1 | Oct 19, 2023 |
Merosin deficient congenital muscular dystrophy | 5 | Nov 24, 2023 |
Metachromatic leukodystrophy | 13 | Dec 7, 2023 |
Methylcobalamin deficiency type cblE | 1 | Oct 27, 2023 |
Methylcobalamin deficiency type cblG | 1 | Feb 2, 2022 |
Methylmalonic acidemia with homocystinuria, type cblJ | 2 | Oct 19, 2023 |
Methylmalonic aciduria and homocystinuria type cblF | 1 | Oct 27, 2023 |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 5 | Nov 24, 2023 |
Methylmalonic aciduria, cblB type | 1 | Oct 19, 2023 |
Mevalonic aciduria | 2 | Dec 7, 2023 |
Microcephalic osteodysplastic primordial dwarfism type II | 6 | Nov 24, 2023 |
Microcephaly 14, primary, autosomal recessive | 1 | Oct 19, 2023 |
Microcephaly 15, primary, autosomal recessive | 1 | Feb 2, 2022 |
Microcephaly 20, primary, autosomal recessive | 1 | Nov 24, 2023 |
Microcephaly 21, primary, autosomal recessive | 1 | Nov 23, 2023 |
Microcephaly 26, primary, autosomal dominant | 1 | Feb 2, 2022 |
Microcephaly 3, primary, autosomal recessive | 1 | Nov 24, 2023 |
Microcephaly 4, primary, autosomal recessive | 2 | Oct 19, 2023 |
Microcephaly 5, primary, autosomal recessive | 3 | Nov 23, 2023 |
Microcephaly 7, primary, autosomal recessive | 2 | Dec 7, 2023 |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Dec 9, 2023 |
Microcephaly, growth deficiency, seizures, and brain malformations | 1 | Oct 19, 2023 |
Microcephaly, normal intelligence and immunodeficiency | 1 | Oct 19, 2023 |
Microcephaly, seizures, and developmental delay | 4 | Oct 19, 2023 |
Microcephaly-capillary malformation syndrome | 1 | Dec 9, 2023 |
Microcephaly-thin corpus callosum-intellectual disability syndrome | 2 | Oct 19, 2023 |
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2 | Oct 19, 2023 |
Migraine, familial hemiplegic, 1 | 3 | Nov 23, 2023 |
Miller syndrome | 1 | Oct 19, 2023 |
Mismatch repair cancer syndrome 4 | 1 | Oct 27, 2023 |
Mitchell syndrome | 1 | Oct 19, 2023 |
Mitochondrial DNA depletion syndrome 13 | 1 | Nov 24, 2023 |
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 | Oct 19, 2023 |
Mitochondrial DNA depletion syndrome 20 (mngie type) | 1 | Oct 19, 2023 |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Feb 2, 2022 |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 3 | Nov 3, 2023 |
Mitochondrial DNA depletion syndrome, myopathic form | 2 | Nov 3, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 16 | 1 | Jan 9, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 17 | 3 | Oct 27, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 18 | 1 | Oct 19, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 19 | 1 | Oct 19, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 21 | 2 | Dec 7, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 4 | 4 | Dec 12, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 5 | 5 | Dec 7, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 7 | 1 | Mar 18, 2024 |
Mitochondrial complex 1 deficiency, nuclear type 8 | 1 | Feb 2, 2022 |
Mitochondrial complex 2 deficiency, nuclear type 2 | 1 | Oct 19, 2023 |
Mitochondrial complex 2 deficiency, nuclear type 4 | 1 | Feb 2, 2022 |
Mitochondrial complex I deficiency, nuclear type 1 | 2 | Dec 9, 2023 |
Mitochondrial complex II deficiency, nuclear type 1 | 1 | Oct 19, 2023 |
Mitochondrial complex III deficiency nuclear type 2 | 4 | Nov 3, 2023 |
Mitochondrial complex III deficiency nuclear type 8 | 1 | Oct 19, 2023 |
Mitochondrial complex IV deficiency, nuclear type 1 | 5 | Dec 12, 2023 |
Mitochondrial pyruvate carrier deficiency | 1 | Oct 27, 2023 |
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 | Jan 9, 2023 |
Miyoshi muscular dystrophy 1 | 5 | Oct 19, 2023 |
Monocytopenia with susceptibility to infections | 1 | Oct 19, 2023 |
Mosaic variegated aneuploidy syndrome 1 | 1 | Oct 19, 2023 |
Mowat-Wilson syndrome | 4 | Oct 27, 2023 |
Moyamoya disease 2 | 1 | Oct 19, 2023 |
Mucolipidosis type II | 1 | Feb 2, 2022 |
Mucopolysaccharidosis type 6 | 2 | Nov 23, 2023 |
Mucopolysaccharidosis type 7 | 1 | Dec 9, 2023 |
Mucopolysaccharidosis, MPS-I-H/S | 2 | Dec 9, 2023 |
Mucopolysaccharidosis, MPS-I-S | 1 | Oct 19, 2023 |
Mucopolysaccharidosis, MPS-II | 7 | Oct 27, 2023 |
Mucopolysaccharidosis, MPS-III-A | 3 | Dec 12, 2023 |
Mucopolysaccharidosis, MPS-III-B | 3 | Dec 12, 2023 |
Mucopolysaccharidosis, MPS-III-C | 1 | Jan 9, 2023 |
Mucopolysaccharidosis, MPS-IV-A | 12 | Nov 24, 2023 |
Mucopolysaccharidosis, type 10 | 1 | Nov 24, 2023 |
Muir-Torré syndrome | 3 | Dec 9, 2023 |
Mullegama-Klein-Martinez syndrome | 1 | Nov 23, 2023 |
Multiple acyl-CoA dehydrogenase deficiency | 3 | Dec 12, 2023 |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Oct 27, 2023 |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Nov 23, 2023 |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2 | Nov 3, 2023 |
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Nov 23, 2023 |
Multiple congenital exostosis | 1 | Feb 2, 2022 |
Multiple endocrine neoplasia, type 1 | 1 | Feb 2, 2022 |
Multiple epiphyseal dysplasia type 1 | 2 | Oct 27, 2023 |
Multiple epiphyseal dysplasia type 5 | 1 | Feb 2, 2022 |
Multiple gastrointestinal atresias | 1 | Feb 2, 2022 |
Multiple mitochondrial dysfunctions syndrome 2 | 3 | Nov 23, 2023 |
Multiple mitochondrial dysfunctions syndrome 3 | 4 | Oct 27, 2023 |
Multiple mitochondrial dysfunctions syndrome 5 | 1 | Oct 19, 2023 |
Multiple mitochondrial dysfunctions syndrome 6 | 1 | Oct 19, 2023 |
Multiple sulfatase deficiency | 2 | Dec 12, 2023 |
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 1 | Jan 9, 2023 |
Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Oct 19, 2023 |
Muscular dystrophy, limb-girdle, autosomal recessive 23 | 7 | Oct 27, 2023 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Dec 9, 2023 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 | Feb 2, 2022 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2 | Nov 24, 2023 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Oct 19, 2023 |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 | Feb 2, 2022 |
Muscular dystrophy-dystroglycanopathy type B6 | 3 | Dec 12, 2023 |
Myasthenic syndrome, congenital, 1B, fast-channel | 1 | Oct 19, 2023 |
Myasthenic syndrome, congenital, 24, presynaptic | 2 | Dec 12, 2023 |
Myoclonic dystonia 11 | 1 | Oct 19, 2023 |
Myoclonic-astatic epilepsy | 2 | Oct 19, 2023 |
Myoclonus, intractable, neonatal | 1 | Nov 23, 2023 |
Myofibrillar myopathy 3 | 1 | Nov 3, 2023 |
Myofibrillar myopathy 4 | 1 | Oct 19, 2023 |
Myofibrillar myopathy 6 | 2 | Oct 19, 2023 |
Myofibrillar myopathy 8 | 1 | Oct 19, 2023 |
Myopathy, congenital, with structured cores and z-line abnormalities | 1 | Dec 7, 2023 |
Myopathy, distal, with rimmed vacuoles | 1 | Oct 19, 2023 |
Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Oct 19, 2023 |
Myopathy, tubular aggregate, 1 | 1 | Oct 19, 2023 |
Myosclerosis | 1 | Dec 7, 2023 |
Myosin storage myopathy | 2 | Oct 19, 2023 |
NAD(P)HX dehydratase deficiency | 2 | Oct 19, 2023 |
NPHP3-related Meckel-like syndrome | 1 | Oct 19, 2023 |
Nail-patella syndrome | 1 | Feb 2, 2022 |
Nemaline myopathy 10 | 1 | Dec 9, 2023 |
Nemaline myopathy 2 | 6 | Dec 9, 2023 |
Nemaline myopathy 5 | 1 | Jan 9, 2023 |
Nemaline myopathy 6 | 1 | Dec 7, 2023 |
Nemaline myopathy 8 | 1 | Nov 24, 2023 |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Feb 2, 2022 |
Neonatal intrahepatic cholestasis due to citrin deficiency | 1 | Oct 19, 2023 |
Neonatal severe primary hyperparathyroidism | 1 | Oct 19, 2023 |
Neonatal-onset encephalopathy with rigidity and seizures | 1 | Dec 12, 2023 |
Nephronophthisis 1 | 1 | Oct 27, 2023 |
Nephronophthisis 13 | 1 | Oct 27, 2023 |
Nephronophthisis 14 | 1 | Dec 7, 2023 |
Nephronophthisis 15 | 1 | Oct 19, 2023 |
Nephronophthisis 4 | 1 | Dec 9, 2023 |
Nephropathic cystinosis | 5 | Oct 27, 2023 |
Nephrotic syndrome | 1 | Feb 2, 2022 |
Nephrotic syndrome, type 12 | 2 | Oct 19, 2023 |
Nephrotic syndrome, type 2 | 4 | Oct 27, 2023 |
Nephrotic syndrome, type 20 | 2 | Oct 19, 2023 |
Nephrotic syndrome, type 3 | 5 | Dec 7, 2023 |
Nephrotic syndrome, type 4 | 1 | Oct 19, 2023 |
Netherton syndrome | 1 | Oct 19, 2023 |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | Oct 19, 2023 |
Neurodegeneration with brain iron accumulation 2B | 7 | Nov 3, 2023 |
Neurodegeneration with brain iron accumulation 4 | 1 | Oct 19, 2023 |
Neurodegeneration with brain iron accumulation 6 | 2 | Dec 9, 2023 |
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Oct 19, 2023 |
Neurodegeneration, childhood-onset, with cerebellar atrophy | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 3 | Nov 24, 2023 |
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Jan 9, 2023 |
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 1 | Jan 9, 2023 |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Dec 7, 2023 |
Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Feb 2, 2022 |
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 3 | Nov 23, 2023 |
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 4 | Nov 24, 2023 |
Neurodevelopmental disorder with hypotonia, seizures, and absent language | 3 | Nov 23, 2023 |
Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 2 | Oct 19, 2023 |
Neurodevelopmental disorder with involuntary movements | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Jan 9, 2023 |
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 | Nov 23, 2023 |
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 2 | Feb 18, 2024 |
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with microcephaly, short stature, and speech delay | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Oct 27, 2023 |
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 3 | Oct 19, 2023 |
Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | Nov 23, 2023 |
Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 4 | Nov 23, 2023 |
Neurodevelopmental disorder with poor language and loss of hand skills | 1 | Oct 19, 2023 |
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 | Dec 7, 2023 |
Neurodevelopmental disorder with severe motor impairment and absent language | 3 | Nov 24, 2023 |
Neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | Dec 7, 2023 |
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Feb 2, 2022 |
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 1 | Mar 18, 2024 |
Neurofibromatosis, type 1 | 13 | Dec 7, 2023 |
Neurofibromatosis-Noonan syndrome | 1 | Oct 19, 2023 |
Neuromuscular disease | 1 | Jan 9, 2023 |
Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 | Oct 19, 2023 |
Neuronal ceroid lipofuscinosis 1 | 1 | Jan 9, 2023 |
Neuronal ceroid lipofuscinosis 2 | 4 | Oct 19, 2023 |
Neuronal ceroid lipofuscinosis 3 | 2 | Nov 24, 2023 |
Neuronal ceroid lipofuscinosis 5 | 3 | Oct 19, 2023 |
Neuronal ceroid lipofuscinosis 7 | 5 | Feb 18, 2024 |
Neuronal ceroid lipofuscinosis 8 | 1 | Jan 9, 2023 |
Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | Oct 19, 2023 |
Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Nov 24, 2023 |
Neuronopathy, distal hereditary motor, type 2D | 1 | Feb 2, 2022 |
Neuronopathy, distal hereditary motor, type 5A | 1 | Feb 2, 2022 |
Neuronopathy, distal hereditary motor, type 5C | 1 | Dec 7, 2023 |
Neuronopathy, distal hereditary motor, type 7B | 2 | Oct 27, 2023 |
Neuropathy, congenital hypomyelinating, 3 | 1 | Dec 9, 2023 |
Neuropathy, hereditary motor and sensory, type 6A | 1 | Oct 19, 2023 |
Neutropenia, severe congenital, 8, autosomal dominant | 1 | Dec 12, 2023 |
Nicolaides-Baraitser syndrome | 1 | Oct 19, 2023 |
Niemann-Pick disease, type A | 5 | Nov 3, 2023 |
Niemann-Pick disease, type B | 3 | Oct 19, 2023 |
Niemann-Pick disease, type C1 | 10 | Dec 12, 2023 |
Niemann-Pick disease, type C2 | 2 | Oct 19, 2023 |
Nijmegen breakage syndrome-like disorder | 2 | Oct 27, 2023 |
Noonan syndrome 1 | 5 | Dec 12, 2023 |
Noonan syndrome 10 | 2 | Dec 12, 2023 |
Noonan syndrome 2 | 2 | Oct 30, 2023 |
Noonan syndrome 4 | 3 | Oct 19, 2023 |
Noonan syndrome 5 | 2 | Oct 19, 2023 |
Noonan syndrome 7 | 2 | Oct 19, 2023 |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Nov 24, 2023 |
Normal pressure hydrocephalus | 1 | Oct 19, 2023 |
Norum disease | 1 | Oct 19, 2023 |
O'Donnell-Luria-Rodan syndrome | 3 | Nov 30, 2023 |
Ocular albinism, type II | 1 | Dec 7, 2023 |
Oculocerebrofacial syndrome, Kaufman type | 1 | Oct 19, 2023 |
Oculocutaneous albinism type 1B | 3 | Oct 19, 2023 |
Oculocutaneous albinism type 3 | 1 | Oct 27, 2023 |
Oculocutaneous albinism type 4 | 2 | Oct 19, 2023 |
Oculofaciocardiodental syndrome | 1 | Oct 19, 2023 |
Odontochondrodysplasia 1 | 1 | Dec 9, 2023 |
Oguchi disease-1 | 1 | Feb 2, 2022 |
Oguchi disease-2 | 1 | Dec 12, 2023 |
Oligodontia-cancer predisposition syndrome | 1 | Dec 7, 2023 |
Oocyte maturation defect 3 | 1 | Nov 23, 2023 |
Ornithine aminotransferase deficiency | 1 | Oct 19, 2023 |
Ornithine carbamoyltransferase deficiency | 3 | Oct 27, 2023 |
Orofaciodigital syndrome type 14 | 1 | Oct 19, 2023 |
Orofaciodigital syndrome type 6 | 1 | Dec 7, 2023 |
Osteogenesis imperfecta type 10 | 1 | Oct 19, 2023 |
Osteogenesis imperfecta type 11 | 1 | Oct 19, 2023 |
Osteogenesis imperfecta type 6 | 2 | Oct 27, 2023 |
Osteogenesis imperfecta type 7 | 2 | Oct 19, 2023 |
Osteogenesis imperfecta type 8 | 5 | Nov 3, 2023 |
Osteogenesis imperfecta type I | 4 | Dec 7, 2023 |
Osteogenesis imperfecta type III | 1 | Oct 19, 2023 |
Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Oct 19, 2023 |
Osteogenesis imperfecta, perinatal lethal | 4 | Oct 27, 2023 |
Osteoporosis | 1 | Dec 12, 2023 |
Osteoporosis with pseudoglioma | 2 | Oct 19, 2023 |
Otofaciocervical syndrome 2 | 1 | Oct 19, 2023 |
Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 | Oct 19, 2023 |
Ovarian dysgenesis 9 | 1 | Nov 23, 2023 |
PERCHING syndrome | 1 | Jan 9, 2023 |
PLIN1-related familial partial lipodystrophy | 1 | Feb 2, 2022 |
PMM2-congenital disorder of glycosylation | 1 | Oct 19, 2023 |
PYCR1-related de Barsy syndrome | 1 | Nov 23, 2023 |
Pachyonychia congenita 3 | 1 | Feb 2, 2022 |
Palmoplantar keratoderma, nonepidermolytic, focal 1 | 1 | Dec 7, 2023 |
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 1 | Oct 19, 2023 |
Palmoplantar keratoderma-deafness syndrome | 1 | Oct 27, 2023 |
Pancreatic cancer, susceptibility to, 3 | 1 | Oct 19, 2023 |
Pancytopenia-developmental delay syndrome | 1 | Oct 27, 2023 |
Papillary renal cell carcinoma type 1 | 1 | Oct 19, 2023 |
Paragangliomas 3 | 1 | Oct 19, 2023 |
Paramyotonia congenita of Von Eulenburg | 2 | Dec 7, 2023 |
Parenti-mignot neurodevelopmental syndrome | 1 | Dec 7, 2023 |
Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Dec 7, 2023 |
Parkinson disease 24, autosomal dominant, susceptibility to | 1 | Oct 19, 2023 |
Parkinson disease, late-onset | 3 | Dec 12, 2023 |
Parkinsonian-pyramidal syndrome | 1 | Oct 19, 2023 |
Parkinsonism with polyneuropathy | 1 | Feb 18, 2024 |
Parkinsonism-dystonia, infantile, 2 | 1 | Oct 27, 2023 |
Paroxysmal nonkinesigenic dyskinesia 1 | 3 | Oct 27, 2023 |
Patterned macular dystrophy 3 | 1 | Oct 27, 2023 |
Peeling skin syndrome 5 | 1 | Oct 19, 2023 |
Pelizaeus-Merzbacher disease | 2 | Oct 19, 2023 |
Pendred syndrome | 1 | Oct 19, 2023 |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | Dec 7, 2023 |
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 1 | Oct 19, 2023 |
Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Oct 19, 2023 |
Periventricular nodular heterotopia 9 | 1 | Oct 19, 2023 |
Perlman syndrome | 1 | Oct 19, 2023 |
Peroxisome biogenesis disorder 10A (Zellweger) | 1 | Oct 27, 2023 |
Peroxisome biogenesis disorder 14B | 2 | Nov 3, 2023 |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Jan 9, 2023 |
Peroxisome biogenesis disorder 1B | 1 | Oct 19, 2023 |
Peroxisome biogenesis disorder 4A (Zellweger) | 3 | Oct 19, 2023 |
Peroxisome biogenesis disorder 4B | 3 | Oct 19, 2023 |
Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Feb 2, 2022 |
Peroxisome biogenesis disorder type 3B | 1 | Oct 19, 2023 |
Perrault syndrome 4 | 1 | Oct 19, 2023 |
Perrault syndrome 5 | 1 | Nov 24, 2023 |
Peutz-Jeghers syndrome | 3 | Oct 19, 2023 |
Pfeiffer syndrome | 2 | Oct 19, 2023 |
Phelan-McDermid syndrome | 2 | Dec 7, 2023 |
Phenylketonuria | 4 | Oct 27, 2023 |
Pheochromocytoma | 1 | Dec 7, 2023 |
Pierson syndrome | 4 | Nov 24, 2023 |
Pigmentary pallidal degeneration | 11 | Mar 8, 2024 |
Pili torti-developmental delay-neurological abnormalities syndrome | 1 | Oct 19, 2023 |
Platelet-type bleeding disorder 10 | 2 | Nov 24, 2023 |
Platelet-type bleeding disorder 15 | 1 | Dec 7, 2023 |
Platelet-type bleeding disorder 16 | 4 | Dec 7, 2023 |
Platelet-type bleeding disorder 17 | 1 | Oct 19, 2023 |
Platelet-type bleeding disorder 18 | 1 | Nov 3, 2023 |
Platelet-type bleeding disorder 20 | 3 | Nov 24, 2023 |
Poirier-Bienvenu neurodevelopmental syndrome | 1 | Oct 19, 2023 |
Polycystic kidney disease 2 | 1 | Oct 19, 2023 |
Polycystic kidney disease 4 | 9 | Dec 7, 2023 |
Polycystic kidney disease 5 | 2 | Oct 19, 2023 |
Polycystic kidney disease, adult type | 15 | Nov 24, 2023 |
Polycystic liver disease 3 with or without kidney cysts | 1 | Feb 2, 2022 |
Polydactyly, postaxial, type A1 | 1 | Oct 19, 2023 |
Polyglandular autoimmune syndrome, type 1 | 8 | Feb 18, 2024 |
Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 | Oct 19, 2023 |
Pontocerebellar hypoplasia type 10 | 2 | Oct 19, 2023 |
Pontocerebellar hypoplasia type 2D | 2 | Jan 9, 2023 |
Pontocerebellar hypoplasia type 6 | 1 | Oct 30, 2023 |
Pontocerebellar hypoplasia type 9 | 1 | Oct 19, 2023 |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | 2 | Nov 24, 2023 |
Porokeratosis 7, multiple types | 1 | Oct 19, 2023 |
Portal hypertension, noncirrhotic, 2 | 1 | Dec 12, 2023 |
Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Feb 18, 2024 |
Potassium-aggravated myotonia | 1 | Feb 2, 2022 |
Premature ovarian failure 11 | 1 | Oct 19, 2023 |
Premature ovarian failure 15 | 2 | Nov 24, 2023 |
Premature ovarian failure 5 | 1 | Nov 24, 2023 |
Premature ovarian failure 9 | 1 | Oct 27, 2023 |
Presynaptic congenital myasthenic syndrome | 2 | Feb 2, 2022 |
Primary CD59 deficiency | 1 | Oct 19, 2023 |
Primary ciliary dyskinesia 14 | 2 | Oct 19, 2023 |
Primary ciliary dyskinesia 17 | 1 | Nov 24, 2023 |
Primary ciliary dyskinesia 28 | 1 | Oct 19, 2023 |
Primary ciliary dyskinesia 29 | 3 | Dec 12, 2023 |
Primary ciliary dyskinesia 3 | 6 | Nov 24, 2023 |
Primary ciliary dyskinesia 5 | 5 | Dec 7, 2023 |
Primary ciliary dyskinesia 7 | 2 | Oct 19, 2023 |
Primary coenzyme Q10 deficiency 8 | 2 | Oct 19, 2023 |
Primary erythromelalgia | 1 | Oct 27, 2023 |
Primary familial polycythemia due to EPO receptor mutation | 2 | Oct 27, 2023 |
Primary hyperoxaluria type 3 | 2 | Nov 30, 2023 |
Primary hyperoxaluria, type I | 7 | Dec 7, 2023 |
Primary hyperoxaluria, type II | 2 | Dec 7, 2023 |
Primary hypomagnesemia | 1 | Oct 19, 2023 |
Primrose syndrome | 1 | Nov 24, 2023 |
Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 | Oct 19, 2023 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Oct 19, 2023 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 2 | Dec 12, 2023 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 2 | Oct 27, 2023 |
Progressive familial heart block type IB | 1 | Oct 19, 2023 |
Progressive familial intrahepatic cholestasis type 1 | 3 | Oct 19, 2023 |
Progressive familial intrahepatic cholestasis type 2 | 9 | Dec 7, 2023 |
Progressive familial intrahepatic cholestasis type 3 | 6 | Dec 7, 2023 |
Progressive myoclonic epilepsy type 3 | 2 | Dec 7, 2023 |
Progressive myoclonic epilepsy type 7 | 1 | Jan 9, 2023 |
Progressive pseudorheumatoid dysplasia | 1 | Dec 7, 2023 |
Progressive sclerosing poliodystrophy | 2 | Dec 7, 2023 |
Prolidase deficiency | 1 | Dec 9, 2023 |
Propionic acidemia | 6 | Dec 9, 2023 |
Prostate cancer, hereditary, 1 | 1 | Feb 18, 2024 |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | Dec 7, 2023 |
Proximal myopathy with extrapyramidal signs | 1 | Oct 19, 2023 |
Pseudo-Hurler polydystrophy | 1 | Feb 2, 2022 |
Pseudo-TORCH syndrome 1 | 3 | Dec 12, 2023 |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2 | Oct 27, 2023 |
Pseudohypoparathyroidism type I A | 2 | Dec 12, 2023 |
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 1 | Jan 9, 2023 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Oct 19, 2023 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Oct 19, 2023 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Nov 24, 2023 |
Pulmonary hypertension, primary, 3 | 1 | Oct 27, 2023 |
Pyknodysostosis | 2 | Oct 27, 2023 |
Pyridoxal phosphate-responsive seizures | 3 | Oct 19, 2023 |
Pyridoxine-dependent epilepsy | 2 | Dec 9, 2023 |
Pyropoikilocytosis, hereditary | 2 | Oct 19, 2023 |
Pyruvate carboxylase deficiency | 1 | Oct 19, 2023 |
Pyruvate dehydrogenase E1-alpha deficiency | 3 | Nov 23, 2023 |
Pyruvate kinase deficiency of red cells | 4 | Nov 30, 2023 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 1 | Dec 7, 2023 |
Recessive dystrophic epidermolysis bullosa | 29 | Oct 27, 2023 |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 2 | Oct 19, 2023 |
Renal carnitine transport defect | 3 | Dec 12, 2023 |
Renal coloboma syndrome | 3 | Oct 27, 2023 |
Renal cysts and diabetes syndrome | 2 | Feb 2, 2022 |
Renal hypodysplasia/aplasia 1 | 2 | Oct 27, 2023 |
Renal hypodysplasia/aplasia 3 | 1 | Oct 19, 2023 |
Renal hypomagnesemia 5 with ocular involvement | 2 | Oct 27, 2023 |
Renal tubular acidosis with progressive nerve deafness | 4 | Oct 27, 2023 |
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 8 | Nov 23, 2023 |
Renal tubular acidosis, distal, 4, with hemolytic anemia | 4 | Dec 12, 2023 |
Renal tubular dysgenesis of genetic origin | 4 | Nov 3, 2023 |
Renal-hepatic-pancreatic dysplasia 1 | 3 | Oct 19, 2023 |
Renal-hepatic-pancreatic dysplasia 2 | 2 | Nov 23, 2023 |
Retinitis pigmentosa 11 | 1 | Dec 7, 2023 |
Retinitis pigmentosa 12 | 1 | Nov 24, 2023 |
Retinitis pigmentosa 14 | 1 | Feb 2, 2022 |
Retinitis pigmentosa 20 | 2 | Nov 24, 2023 |
Retinitis pigmentosa 25 | 2 | Oct 19, 2023 |
Retinitis pigmentosa 39 | 2 | Oct 19, 2023 |
Retinitis pigmentosa 41 | 1 | Oct 19, 2023 |
Retinitis pigmentosa 49 | 1 | Dec 12, 2023 |
Retinitis pigmentosa-deafness syndrome | 1 | Dec 12, 2023 |
Retinoblastoma | 1 | Oct 19, 2023 |
Rett syndrome | 12 | Dec 7, 2023 |
Rett syndrome, congenital variant | 8 | Dec 7, 2023 |
Rhabdoid tumor predisposition syndrome 2 | 1 | Oct 19, 2023 |
Rheumatoid arthritis | 2 | Oct 19, 2023 |
Ritscher-Schinzel syndrome 2 | 1 | Dec 9, 2023 |
Roberts-SC phocomelia syndrome | 1 | Oct 19, 2023 |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Oct 19, 2023 |
Rothmund-Thomson syndrome type 2 | 1 | Nov 24, 2023 |
Rotor syndrome | 1 | Oct 19, 2023 |
Rubinstein-Taybi syndrome due to CREBBP mutations | 8 | Nov 23, 2023 |
SRD5A3-congenital disorder of glycosylation | 1 | Jan 9, 2023 |
Saldino-Mainzer syndrome | 1 | Oct 19, 2023 |
Sandhoff disease | 5 | Dec 9, 2023 |
Scapuloperoneal spinal muscular atrophy | 1 | Feb 2, 2022 |
Schinzel-Giedion syndrome | 2 | Jan 9, 2023 |
Schwannomatosis 2 | 1 | Nov 24, 2023 |
Schwartz-Jampel syndrome type 1 | 2 | Oct 19, 2023 |
Seckel syndrome 4 | 1 | Oct 19, 2023 |
Seckel syndrome 5 | 1 | Nov 23, 2023 |
Seizure | 1 | Jan 27, 2023 |
Seizures, benign familial infantile, 2 | 3 | Oct 19, 2023 |
Seizures, benign familial infantile, 3 | 1 | Jan 9, 2023 |
Senior-Loken syndrome 7 | 1 | Jan 9, 2023 |
Septo-optic dysplasia sequence | 1 | Oct 27, 2023 |
Severe X-linked myotubular myopathy | 1 | Oct 19, 2023 |
Severe combined immunodeficiency due to CARD11 deficiency | 1 | Oct 27, 2023 |
Severe combined immunodeficiency due to CARMIL2 deficiency | 1 | Oct 19, 2023 |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 3 | Oct 27, 2023 |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Oct 19, 2023 |
Severe early-childhood-onset retinal dystrophy | 4 | Dec 12, 2023 |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Jan 9, 2023 |
Severe myoclonic epilepsy in infancy | 22 | Dec 7, 2023 |
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Feb 2, 2022 |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 1 | Nov 24, 2023 |
Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Jan 9, 2023 |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2 | Oct 19, 2023 |
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 3 | Nov 23, 2023 |
Short-limb skeletal dysplasia with severe combined immunodeficiency | 1 | Feb 2, 2022 |
Short-rib thoracic dysplasia 10 with or without polydactyly | 2 | Nov 3, 2023 |
Short-rib thoracic dysplasia 14 with polydactyly | 1 | Oct 19, 2023 |
Short-rib thoracic dysplasia 6 with or without polydactyly | 3 | Oct 19, 2023 |
Shukla-Vernon syndrome | 2 | Oct 19, 2023 |
Shwachman-Diamond syndrome 1 | 3 | Dec 12, 2023 |
Sinoatrial node dysfunction and deafness | 1 | Oct 19, 2023 |
Sitosterolemia 1 | 2 | Oct 27, 2023 |
Sitosterolemia 2 | 1 | Feb 2, 2022 |
Sjögren-Larsson syndrome | 1 | Jan 9, 2023 |
Skin/hair/eye pigmentation, variation in, 2 | 1 | Oct 19, 2023 |
Sneddon syndrome | 1 | Nov 24, 2023 |
Sotos syndrome | 8 | Dec 7, 2023 |
Spastic ataxia 2 | 1 | Oct 19, 2023 |
Spastic ataxia 5 | 2 | Oct 27, 2023 |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 2 | Dec 7, 2023 |
Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 | Jan 9, 2023 |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 | Oct 19, 2023 |
Specific granule deficiency 2 | 1 | Oct 19, 2023 |
Spermatogenic failure 20 | 1 | Feb 2, 2022 |
Spermatogenic failure 25 | 1 | Feb 2, 2022 |
Spermatogenic failure 34 | 1 | Feb 2, 2022 |
Spinal muscular atrophy with congenital bone fractures 1 | 1 | Nov 3, 2023 |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 | Oct 27, 2023 |
Spinocerebellar ataxia 27A | 1 | Nov 3, 2023 |
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 2 | Nov 23, 2023 |
Spinocerebellar ataxia type 11 | 1 | Oct 19, 2023 |
Spinocerebellar ataxia type 13 | 1 | Dec 7, 2023 |
Spinocerebellar ataxia type 19/22 | 1 | Oct 27, 2023 |
Spinocerebellar ataxia type 26 | 1 | Oct 27, 2023 |
Spinocerebellar ataxia type 29 | 1 | Oct 19, 2023 |
Spinocerebellar ataxia type 35 | 1 | Feb 2, 2022 |
Spinocerebellar ataxia type 40 | 2 | Oct 19, 2023 |
Spinocerebellar ataxia type 42 | 1 | Oct 19, 2023 |
Spinocerebellar ataxia type 5 | 1 | Oct 19, 2023 |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Oct 19, 2023 |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 1 | Oct 19, 2023 |
Sponastrime dysplasia | 2 | Feb 2, 2022 |
Spondylocarpotarsal synostosis syndrome | 1 | Oct 19, 2023 |
Spondylocostal dysostosis 5 | 1 | Nov 24, 2023 |
Spondyloenchondrodysplasia with immune dysregulation | 3 | Oct 19, 2023 |
Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Feb 2, 2022 |
Spondyloepimetaphyseal dysplasia, Missouri type | 1 | Oct 19, 2023 |
Spondyloepimetaphyseal dysplasia, aggrecan type | 2 | Oct 19, 2023 |
Spondyloepimetaphyseal dysplasia, matrilin-3 type | 1 | Oct 27, 2023 |
Spondyloepiphyseal dysplasia congenita | 1 | Oct 19, 2023 |
Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Oct 19, 2023 |
Spondyloepiphyseal dysplasia, Stanescu type | 1 | Oct 19, 2023 |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 | Oct 19, 2023 |
Spondylometaphyseal dysplasia, Kozlowski type | 1 | Oct 27, 2023 |
Spongy degeneration of central nervous system | 2 | Jan 9, 2023 |
Stankiewicz-Isidor syndrome | 1 | Oct 19, 2023 |
Steel syndrome | 1 | Feb 2, 2022 |
Stickler syndrome type 1 | 2 | Nov 3, 2023 |
Stickler syndrome type 2 | 1 | Oct 19, 2023 |
Stickler syndrome, type 4 | 2 | Dec 12, 2023 |
Stickler syndrome, type I, nonsyndromic ocular | 1 | Oct 19, 2023 |
Striatal degeneration, autosomal dominant 2 | 1 | Feb 2, 2022 |
Striatonigral degeneration, childhood-onset | 2 | Dec 12, 2023 |
Stromme syndrome | 3 | Dec 12, 2023 |
Structural heart defects and renal anomalies syndrome | 1 | Dec 12, 2023 |
Succinate-semialdehyde dehydrogenase deficiency | 4 | Oct 27, 2023 |
Succinyl-CoA acetoacetate transferase deficiency | 1 | Oct 19, 2023 |
Sucrase-isomaltase deficiency | 2 | Dec 9, 2023 |
Sudden cardiac failure, infantile | 1 | Dec 7, 2023 |
Sudden infant death-dysgenesis of the testes syndrome | 1 | Feb 2, 2022 |
Sulfite oxidase deficiency | 2 | Dec 9, 2023 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 4 | Nov 3, 2023 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 | Feb 2, 2022 |
Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Oct 30, 2023 |
Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Oct 19, 2023 |
Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Oct 19, 2023 |
Syndromic X-linked intellectual disability 94 | 1 | Oct 19, 2023 |
Syndromic X-linked intellectual disability Hedera type | 1 | Nov 24, 2023 |
Syndromic X-linked intellectual disability Najm type | 2 | Nov 23, 2023 |
Syndromic X-linked intellectual disability Raymond type | 1 | Oct 19, 2023 |
Synpolydactyly type 2 | 1 | Oct 19, 2023 |
T-substance anomaly | 1 | Nov 24, 2023 |
TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Oct 19, 2023 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 | Dec 12, 2023 |
Tay-Sachs disease | 7 | Oct 27, 2023 |
Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Dec 7, 2023 |
Temple-Baraitser syndrome | 1 | Feb 2, 2022 |
Temtamy syndrome | 2 | Oct 27, 2023 |
Thanatophoric dysplasia, type 2 | 1 | Oct 27, 2023 |
Thrombocythemia 1 | 1 | Dec 7, 2023 |
Thrombocythemia 2 | 1 | Oct 19, 2023 |
Thrombocythemia 3 | 4 | Nov 24, 2023 |
Thrombocytopenia 2 | 1 | Oct 19, 2023 |
Thrombocytopenia 6 | 1 | Oct 19, 2023 |
Thrombophilia due to activated protein C resistance | 1 | Nov 23, 2023 |
Thrombophilia due to protein C deficiency, autosomal dominant | 2 | Nov 24, 2023 |
Thrombophilia due to thrombin defect | 1 | Oct 19, 2023 |
Thyroid dyshormonogenesis 6 | 8 | Mar 15, 2024 |
Thyroid hormone resistance, generalized, autosomal dominant | 1 | Feb 2, 2022 |
Thyrotoxic periodic paralysis, susceptibility to, 1 | 1 | Oct 19, 2023 |
Tibial muscular dystrophy | 1 | Oct 19, 2023 |
Timothy syndrome | 1 | Jan 9, 2023 |
Townes-Brocks syndrome 1 | 2 | Nov 24, 2023 |
Transient infantile hypertriglyceridemia and hepatosteatosis | 2 | Dec 9, 2023 |
Treacher Collins syndrome 1 | 1 | Nov 24, 2023 |
Tremor, hereditary essential, 4 | 1 | Oct 19, 2023 |
Tremor, hereditary essential, 5 | 3 | Dec 7, 2023 |
Trichohepatoenteric syndrome 1 | 1 | Nov 24, 2023 |
Trichohepatoneurodevelopmental syndrome | 1 | Oct 19, 2023 |
Troyer syndrome | 1 | Jan 9, 2023 |
Tuberous sclerosis 1 | 3 | Oct 19, 2023 |
Tuberous sclerosis 2 | 8 | Oct 27, 2023 |
Tumoral calcinosis, hyperphosphatemic, familial, 1 | 1 | Nov 24, 2023 |
Type 2 diabetes mellitus | 1 | Oct 19, 2023 |
Tyrosinase-negative oculocutaneous albinism | 5 | Oct 19, 2023 |
Tyrosinase-positive oculocutaneous albinism | 5 | Dec 7, 2023 |
Tyrosinemia type I | 6 | Dec 7, 2023 |
Ullrich congenital muscular dystrophy 1A | 11 | Dec 7, 2023 |
Ullrich congenital muscular dystrophy 2 | 1 | Nov 24, 2023 |
Ulnar-mammary syndrome | 1 | Oct 27, 2023 |
Unverricht-Lundborg syndrome | 1 | Nov 24, 2023 |
Upshaw-Schulman syndrome | 2 | Mar 15, 2024 |
Usher syndrome type 1 | 1 | Dec 12, 2023 |
Usher syndrome type 2A | 5 | Dec 9, 2023 |
Usher syndrome type 2C | 3 | Oct 19, 2023 |
Van Maldergem syndrome 1 | 3 | Oct 19, 2023 |
Van Maldergem syndrome 2 | 1 | Oct 19, 2023 |
Vanishing white matter disease | 2 | Jan 9, 2023 |
Vasculitis due to ADA2 deficiency | 3 | Oct 19, 2023 |
Ventriculomegaly-cystic kidney disease | 1 | Feb 2, 2022 |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Oct 19, 2023 |
Very long chain acyl-CoA dehydrogenase deficiency | 1 | Dec 12, 2023 |
Vici syndrome | 2 | Oct 19, 2023 |
Vitamin D hydroxylation-deficient rickets, type 1B | 1 | Dec 7, 2023 |
Vitamin D-dependent rickets type II with alopecia | 2 | Oct 19, 2023 |
Vitamin D-dependent rickets, type 1A | 2 | Oct 30, 2023 |
Waardenburg syndrome type 1 | 2 | Nov 24, 2023 |
Waardenburg syndrome type 2E | 1 | Jan 9, 2023 |
Waardenburg syndrome type 4A | 1 | Oct 19, 2023 |
Waardenburg syndrome type 4C | 2 | Oct 19, 2023 |
Warburg micro syndrome 1 | 2 | Oct 27, 2023 |
Warburg micro syndrome 2 | 1 | Oct 19, 2023 |
Warsaw breakage syndrome | 2 | Feb 2, 2022 |
Weill-Marchesani syndrome 1 | 1 | Nov 24, 2023 |
Weiss-kruszka syndrome | 2 | Dec 9, 2023 |
Wieacker-Wolff syndrome, female-restricted | 3 | Dec 7, 2023 |
Wiedemann-Steiner syndrome | 1 | Nov 24, 2023 |
Wilson disease | 26 | Dec 12, 2023 |
Wiskott-Aldrich syndrome | 3 | Oct 19, 2023 |
Wolfram syndrome 1 | 3 | Dec 9, 2023 |
X-linked Alport syndrome | 8 | Dec 7, 2023 |
X-linked agammaglobulinemia | 1 | Oct 19, 2023 |
X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Oct 19, 2023 |
X-linked complicated corpus callosum dysgenesis | 1 | Oct 19, 2023 |
X-linked congenital hemolytic anemia | 1 | Oct 19, 2023 |
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 | Dec 7, 2023 |
X-linked erythropoietic protoporphyria | 1 | Dec 7, 2023 |
X-linked intellectual disability Cabezas type | 1 | Oct 19, 2023 |
X-linked intellectual disability with marfanoid habitus | 1 | Jan 9, 2023 |
X-linked intellectual disability, Cantagrel type | 4 | Oct 27, 2023 |
X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 | Oct 19, 2023 |
X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 | Oct 19, 2023 |
X-linked myopathy with excessive autophagy | 1 | Oct 19, 2023 |
X-linked reticulate pigmentary disorder | 1 | Nov 24, 2023 |
X-linked severe combined immunodeficiency | 1 | Feb 2, 2022 |
Xeroderma pigmentosum, group C | 1 | Oct 19, 2023 |
Xeroderma pigmentosum, group E | 1 | Oct 19, 2023 |
Xeroderma pigmentosum, group G | 1 | Nov 3, 2023 |
Yunis-Varon syndrome | 1 | Oct 19, 2023 |
ZTTK syndrome | 3 | Dec 12, 2023 |
Zaki syndrome | 1 | Oct 19, 2023 |
Zimmermann-Laband syndrome 1 | 2 | Jan 9, 2023 |
beta Thalassemia | 3 | Feb 2, 2022 |
von Willebrand disease type 1 | 1 | Oct 19, 2023 |
von Willebrand disease type 2 | 2 | Oct 19, 2023 |
von Willebrand disease type 3 | 1 | Oct 19, 2023 |