11p partial monosomy syndrome | 1 | Apr 15, 2019 |
3-Methylglutaconic aciduria type 2 | 1 | Aug 16, 2023 |
8q24.3 microdeletion syndrome | 1 | May 20, 2022 |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Feb 11, 2022 |
Abnormal brain morphology | 1 | Jul 26, 2019 |
Abnormal facial shape | 1 | Apr 4, 2019 |
Abnormality of the outer ear | 1 | Oct 3, 2021 |
Acyl-CoA oxidase deficiency | 1 | Mar 20, 2024 |
Adrenoleukodystrophy | 1 | Sep 18, 2020 |
Al Kaissi syndrome | 1 | Oct 13, 2021 |
Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Jun 14, 2022 |
Alexander disease | 1 | Apr 15, 2021 |
Alternating hemiplegia of childhood 1 | 1 | Feb 14, 2023 |
Amyotrophic lateral sclerosis type 23 | 1 | Sep 23, 2022 |
Amyotrophic lateral sclerosis type 4 | 1 | Jan 5, 2022 |
Anophthalmia | 3 | Jul 19, 2019 |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Oct 13, 2021 |
Aortic aneurysm, familial thoracic 7 | 1 | Nov 1, 2022 |
Aortic valve disease 2 | 1 | Jan 12, 2021 |
Aortic valve stenosis | 1 | Apr 30, 2020 |
Arrhythmogenic right ventricular dysplasia 2 | 1 | Nov 1, 2022 |
Arrhythmogenic right ventricular dysplasia 9 | 1 | Dec 28, 2021 |
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 1 | Mar 26, 2024 |
Ataxia-telangiectasia syndrome | 1 | Sep 2, 2022 |
Atrial fibrillation, familial, 7 | 1 | Feb 26, 2021 |
Attention deficit hyperactivity disorder | 1 | May 7, 2021 |
Atypical Rett syndrome | 1 | Jan 14, 2022 |
Au-Kline syndrome | 2 | Sep 8, 2021 |
Autism | 2 | Mar 27, 2024 |
Autism, susceptibility to, 5 | 2 | Jan 23, 2023 |
Autism, susceptibility to, X-linked 2 | 1 | Jul 23, 2021 |
Autistic behavior | 1 | Jul 19, 2019 |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Apr 18, 2024 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Dec 9, 2020 |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | May 20, 2022 |
Autosomal dominant nonsyndromic hearing loss 12 | 1 | Mar 15, 2021 |
Autosomal dominant nonsyndromic hearing loss 15 | 1 | Oct 6, 2021 |
Autosomal dominant nonsyndromic hearing loss 17 | 1 | Oct 8, 2020 |
Autosomal dominant nonsyndromic hearing loss 20 | 1 | Aug 26, 2021 |
Autosomal dominant nonsyndromic hearing loss 41 | 1 | Jan 18, 2023 |
Autosomal dominant nonsyndromic hearing loss 4A | 1 | Mar 5, 2021 |
Autosomal dominant nonsyndromic hearing loss 7 | 1 | Nov 10, 2022 |
Autosomal dominant optic atrophy classic form | 1 | Jan 23, 2024 |
Autosomal recessive ataxia, Beauce type | 1 | Jun 15, 2020 |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Feb 10, 2021 |
Autosomal recessive nonsyndromic hearing loss 12 | 1 | Sep 22, 2020 |
Autosomal recessive nonsyndromic hearing loss 1A | 1 | Oct 29, 2019 |
Autosomal recessive nonsyndromic hearing loss 23 | 1 | Nov 7, 2022 |
Autosomal recessive nonsyndromic hearing loss 9 | 1 | Oct 29, 2020 |
Autosomal recessive optic atrophy, OPA7 type | 1 | Jun 24, 2022 |
Avascular necrosis of femoral head, primary, 1 | 1 | Mar 30, 2023 |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Oct 29, 2021 |
Baraitser-Winter syndrome 1 | 1 | May 20, 2022 |
Bardet-Biedl syndrome 7 | 1 | Jul 17, 2023 |
Basal cell nevus syndrome 1 | 1 | Mar 26, 2024 |
Basal cell nevus syndrome 2 | 1 | May 5, 2023 |
Bethlem myopathy 1A | 3 | Sep 6, 2023 |
Blepharophimosis | 1 | Apr 4, 2019 |
Bloom syndrome | 1 | Nov 8, 2019 |
Bone mineral density quantitative trait locus 1 | 2 | Jan 26, 2022 |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | Feb 8, 2024 |
Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Mar 8, 2023 |
Brain-lung-thyroid syndrome | 2 | Mar 21, 2022 |
Branchiooculofacial syndrome | 1 | Oct 29, 2020 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | Feb 24, 2023 |
Brooke-Spiegler syndrome | 1 | Nov 30, 2022 |
Brugada syndrome 3 | 1 | Dec 18, 2020 |
Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | Jan 31, 2023 |
CBL-related disorder | 3 | May 20, 2022 |
CEBALID syndrome | 1 | Mar 26, 2024 |
CHARGE association | 6 | Oct 13, 2021 |
CNTNAP5-associated intellectual disability | 1 | Oct 5, 2020 |
Capillary malformation-arteriovenous malformation 2 | 1 | Jul 7, 2022 |
Cardiac arrhythmia, ankyrin-B-related | 1 | Mar 22, 2019 |
Cardiac valvular dysplasia, X-linked | 1 | Aug 27, 2021 |
Cardiofaciocutaneous syndrome 1 | 1 | Jun 25, 2020 |
Cardiofaciocutaneous syndrome 4 | 2 | Jun 28, 2018 |
Carpal tunnel syndrome 2 | 1 | Jul 30, 2021 |
Cataract 15 multiple types | 1 | Jul 13, 2022 |
Cataract 3 multiple types | 1 | Aug 27, 2021 |
Cenani-Lenz syndactyly syndrome | 1 | Jan 25, 2024 |
Central core myopathy | 3 | Sep 6, 2023 |
Cerebellar ataxia | 2 | Jun 30, 2020 |
Cerebral amyloid angiopathy, APP-related | 1 | Oct 13, 2021 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Jul 3, 2023 |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Mar 5, 2021 |
Charcot-Marie-Tooth disease X-linked dominant 6 | 1 | Jul 5, 2022 |
Charcot-Marie-Tooth disease axonal type 2C | 1 | Jan 13, 2020 |
Charcot-Marie-Tooth disease axonal type 2O | 2 | Dec 9, 2020 |
Charcot-Marie-Tooth disease axonal type 2P | 1 | Jan 5, 2023 |
Charcot-Marie-Tooth disease dominant intermediate E | 1 | Jun 29, 2023 |
Charcot-Marie-Tooth disease type 1E | 1 | Aug 18, 2017 |
Charcot-Marie-Tooth disease type 2A2 | 1 | Apr 1, 2021 |
Charcot-Marie-Tooth disease type 4C | 2 | Jun 5, 2023 |
Charcot-Marie-Tooth disease type 4H | 2 | Jan 23, 2023 |
Charcot-Marie-Tooth disease, dominant intermediate G | 1 | Mar 8, 2021 |
Charcot-marie-tooth disease, axonal, type 2DD | 1 | Feb 1, 2021 |
Choroideremia | 4 | Sep 1, 2022 |
Chromosome 1p32-p31 deletion syndrome | 1 | Dec 23, 2019 |
Coenzyme Q10 deficiency, primary, 1 | 1 | Mar 26, 2024 |
Coffin-Siris syndrome 1 | 6 | Sep 28, 2023 |
Coffin-Siris syndrome 11 | 1 | Jan 26, 2023 |
Coffin-Siris syndrome 8 | 1 | Mar 27, 2024 |
Cognitive impairment | 1 | Jul 19, 2019 |
Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Jul 18, 2022 |
Colorectal cancer, susceptibility to, 12 | 2 | Jun 3, 2022 |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 | Jan 24, 2023 |
Combined oxidative phosphorylation defect type 13 | 1 | Jan 22, 2024 |
Combined oxidative phosphorylation deficiency 55 | 1 | Mar 27, 2024 |
Complex cortical dysplasia with other brain malformations 1 | 1 | Mar 1, 2023 |
Cone dystrophy with supernormal rod response | 1 | Mar 13, 2021 |
Cone-rod dystrophy 2 | 1 | Mar 26, 2024 |
Cone-rod dystrophy 9 | 1 | Oct 5, 2022 |
Congenital heart defects and ectodermal dysplasia | 1 | Jun 9, 2022 |
Congenital heart defects, multiple types, 7 | 1 | Mar 27, 2024 |
Congenital muscular dystrophy with cataracts and intellectual disability | 2 | Nov 18, 2022 |
Congenital muscular hypertrophy-cerebral syndrome | 1 | Sep 21, 2020 |
Congenital myasthenic syndrome 13 | 1 | May 7, 2021 |
Congenital myasthenic syndrome 5 | 1 | Mar 26, 2024 |
Congenital stationary night blindness autosomal dominant 1 | 1 | Oct 4, 2022 |
Cornelia de Lange syndrome 3 | 2 | Oct 30, 2020 |
Cornelia de Lange syndrome 5 | 3 | Jan 13, 2022 |
Creatine transporter deficiency | 1 | May 24, 2022 |
DYRK1A-related intellectual disability syndrome | 1 | Apr 5, 2023 |
De Lange syndrome | 1 | Jan 13, 2020 |
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 | Apr 8, 2020 |
Dejerine-Sottas disease | 2 | Aug 23, 2017 |
Delayed speech and language development | 6 | Jul 19, 2019 |
Developmental and epileptic encephalopathy 6B | 1 | Jan 24, 2022 |
Developmental and epileptic encephalopathy 94 | 1 | May 20, 2022 |
Developmental and epileptic encephalopathy 97 | 1 | Aug 23, 2023 |
Developmental and epileptic encephalopathy, 11 | 2 | Mar 8, 2023 |
Developmental and epileptic encephalopathy, 27 | 1 | May 20, 2022 |
Developmental and epileptic encephalopathy, 42 | 1 | Sep 2, 2022 |
Developmental and epileptic encephalopathy, 5 | 2 | Dec 23, 2019 |
Developmental and epileptic encephalopathy, 67 | 2 | Apr 27, 2023 |
Developmental and epileptic encephalopathy, 7 | 1 | May 13, 2022 |
Developmental and epileptic encephalopathy, 72 | 1 | Jan 17, 2024 |
Developmental delay with autism spectrum disorder and gait instability | 1 | Sep 8, 2021 |
Developmental delay with or without dysmorphic facies and autism | 1 | Mar 17, 2023 |
Developmental delay with or without epilepsy | 1 | Nov 14, 2023 |
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Dec 21, 2022 |
Dias-Logan syndrome | 2 | Aug 1, 2023 |
Diets-Jongmans syndrome | 1 | Oct 7, 2022 |
Dilated cardiomyopathy 1DD | 1 | Jun 25, 2020 |
Dilated cardiomyopathy 1G | 1 | Jan 18, 2023 |
Dilated cardiomyopathy 1HH | 1 | Aug 8, 2017 |
Dilated cardiomyopathy 1Y | 1 | Jan 7, 2021 |
Dystonia 25 | 1 | Feb 14, 2024 |
Dystonia 9 | 1 | Feb 24, 2022 |
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Mar 3, 2021 |
Ectodermal dysplasia 13, hair/tooth type | 1 | Feb 1, 2024 |
Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Aug 31, 2022 |
Ehlers-Danlos syndrome, periodontal type 1 | 1 | Apr 21, 2023 |
Ehlers-Danlos syndrome, type 4 | 2 | Jan 17, 2024 |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | May 20, 2022 |
Epilepsy, early-onset, with or without developmental delay | 1 | Jun 28, 2023 |
Epilepsy, familial focal, with variable foci 2 | 1 | May 20, 2022 |
Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Apr 18, 2023 |
Epileptic encephalopathy, infantile or early childhood, 2 | 1 | Nov 12, 2020 |
Epileptic encephalopathy, infantile or early childhood, 3 | 2 | Sep 22, 2021 |
Epiphyseal dysplasia, multiple, 6 | 1 | Feb 13, 2023 |
Episodic ataxia type 1 | 1 | Aug 31, 2023 |
Erythrokeratodermia variabilis et progressiva 2 | 1 | Jul 3, 2023 |
Exostoses, multiple, type 1 | 1 | Jan 11, 2024 |
FG syndrome 2 | 1 | Aug 18, 2023 |
Familial adenomatous polyposis 1 | 2 | Sep 22, 2020 |
Familial adenomatous polyposis 2 | 1 | Sep 2, 2022 |
Familial cancer of breast | 6 | Aug 12, 2022 |
Familial dysfibrinogenemia | 1 | Dec 25, 2020 |
Familial episodic pain syndrome with predominantly lower limb involvement | 2 | Apr 6, 2021 |
Familial episodic pain syndrome with predominantly upper body involvement | 1 | Jul 11, 2023 |
Fanconi anemia complementation group D1 | 1 | Sep 23, 2022 |
Febrile seizure (within the age range of 3 months to 6 years) | 1 | Sep 15, 2022 |
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 1 | Feb 9, 2024 |
Furrowed tongue | 1 | Jul 14, 2021 |
Generalized epilepsy with febrile seizures plus, type 10 | 1 | Sep 22, 2023 |
Genitopatellar syndrome | 1 | Oct 10, 2023 |
Gillespie syndrome | 1 | Sep 22, 2020 |
Global developmental delay | 11 | Sep 19, 2022 |
Global developmental delay with speech and behavioral abnormalities | 2 | Mar 26, 2024 |
Glomerulopathy with fibronectin deposits 2 | 1 | Sep 9, 2022 |
Glycogen storage disease type III | 1 | Mar 9, 2021 |
Glycogen storage disease, type II | 1 | Aug 25, 2023 |
Glycogen storage disease, type IV | 1 | Jan 23, 2021 |
Gorlin syndrome | 1 | May 18, 2022 |
Greig cephalopolysyndactyly syndrome | 2 | Jun 21, 2022 |
Growth delay due to insulin-like growth factor I resistance | 1 | May 14, 2021 |
Harel-Yoon syndrome | 1 | Dec 18, 2020 |
Hearing loss, autosomal dominant 37 | 5 | Mar 19, 2024 |
Hearing loss, autosomal dominant 73 | 1 | May 11, 2022 |
Hearing loss, autosomal dominant 75 | 1 | Aug 16, 2023 |
Hearing loss, autosomal dominant 78 | 1 | Mar 27, 2024 |
Hearing loss, autosomal dominant 84 | 1 | Mar 27, 2024 |
Hearing loss, autosomal dominant 85 | 1 | Apr 12, 2023 |
Heart, malformation of | 1 | Oct 3, 2021 |
Heimler syndrome 2 | 1 | Apr 9, 2019 |
Hemangioma | 1 | Apr 4, 2019 |
Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 | Sep 2, 2022 |
Hereditary spastic paraplegia 10 | 1 | Jul 20, 2017 |
Hereditary spastic paraplegia 15 | 1 | Jul 7, 2020 |
Hereditary spastic paraplegia 30 | 1 | Jun 4, 2021 |
Hereditary spastic paraplegia 35 | 2 | May 20, 2022 |
Hereditary spastic paraplegia 4 | 3 | Jul 3, 2021 |
Hereditary spastic paraplegia 50 | 2 | Jul 21, 2022 |
Hereditary spastic paraplegia 5A | 1 | Jun 13, 2022 |
Hereditary spastic paraplegia 6 | 1 | Jun 2, 2022 |
Hereditary spastic paraplegia 7 | 2 | Oct 5, 2020 |
Hereditary spastic paraplegia 73 | 2 | Sep 10, 2021 |
Holoprosencephaly 13, X-linked | 1 | Dec 3, 2021 |
Houge-Janssens syndrome 2 | 1 | Jan 23, 2023 |
Hutchinson-Gilford syndrome | 1 | Nov 1, 2021 |
Hypercholesterolemia, autosomal dominant, type B | 1 | Jul 26, 2022 |
Hypergonadotropic hypogonadism | 1 | Jul 19, 2019 |
Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Mar 13, 2021 |
Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Aug 12, 2021 |
Hypertrophic cardiomyopathy | 1 | Feb 2, 2022 |
Hypertrophic cardiomyopathy 14 | 1 | May 20, 2022 |
Hypertrophic cardiomyopathy 26 | 1 | Mar 18, 2024 |
Hypertrophic cardiomyopathy 3 | 1 | Sep 18, 2020 |
Hypertrophic cardiomyopathy 4 | 1 | May 4, 2017 |
Hypochondroplasia | 1 | May 20, 2022 |
Hypoparathyroidism, deafness, renal disease syndrome | 1 | Jul 3, 2023 |
Hypoplastic left heart syndrome | 1 | Jun 30, 2020 |
Hypotonia | 3 | Apr 30, 2020 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Jun 22, 2022 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Aug 8, 2023 |
Intellectual developmental disorder 60 with seizures | 1 | Sep 22, 2021 |
Intellectual developmental disorder 61 | 1 | Jan 15, 2021 |
Intellectual developmental disorder with autism and macrocephaly | 2 | Jul 15, 2021 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Jan 23, 2023 |
Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | May 20, 2022 |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Jan 18, 2024 |
Intellectual developmental disorder, autosomal dominant 65 | 1 | May 3, 2023 |
Intellectual developmental disorder, autosomal dominant 66 | 1 | Dec 2, 2022 |
Intellectual developmental disorder, autosomal dominant 68 | 1 | Dec 7, 2023 |
Intellectual developmental disorder, autosomal recessive 67 | 1 | Dec 14, 2020 |
Intellectual disability | 22 | Oct 7, 2020 |
Intellectual disability, X-linked 105 | 1 | Jan 11, 2024 |
Intellectual disability, X-linked 49 | 1 | May 23, 2022 |
Intellectual disability, X-linked 96 | 1 | Feb 9, 2022 |
Intellectual disability, X-linked 99 | 1 | Sep 5, 2022 |
Intellectual disability, X-linked syndromic, Turner type | 1 | Mar 26, 2024 |
Intellectual disability, X-linked, syndromic, 35 | 1 | Apr 29, 2022 |
Intellectual disability, autosomal dominant 13 | 2 | Sep 5, 2022 |
Intellectual disability, autosomal dominant 34 | 1 | Sep 26, 2022 |
Intellectual disability, autosomal dominant 39 | 1 | Sep 1, 2020 |
Intellectual disability, autosomal dominant 46 | 3 | Mar 26, 2024 |
Intellectual disability, autosomal dominant 47 | 2 | May 20, 2022 |
Intellectual disability, autosomal dominant 51 | 1 | Jan 23, 2023 |
Intellectual disability, autosomal dominant 53 | 1 | Jun 30, 2023 |
Intellectual disability, autosomal dominant 56 | 1 | Mar 26, 2024 |
Intellectual disability, autosomal dominant 8 | 1 | Jul 19, 2022 |
Intellectual disability, autosomal recessive 64 | 1 | Sep 16, 2022 |
Intellectual disability, autosomal recessive 65 | 1 | May 3, 2023 |
Intellectual disability, mild | 2 | Sep 19, 2022 |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 4 | Aug 25, 2022 |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Oct 20, 2020 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | May 5, 2022 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Apr 12, 2023 |
Joubert syndrome 37 | 1 | Sep 5, 2022 |
Joubert syndrome 40 | 1 | May 25, 2022 |
Kabuki syndrome 1 | 9 | Oct 12, 2022 |
Keppen-Lubinsky syndrome | 1 | Sep 8, 2021 |
Khan-Khan-Katsanis syndrome | 1 | Sep 9, 2022 |
Kleefstra syndrome 1 | 1 | Jul 3, 2023 |
Kleefstra syndrome 2 | 1 | Mar 15, 2021 |
Koolen-de Vries syndrome | 1 | Oct 7, 2020 |
Landau-Kleffner syndrome | 1 | Sep 26, 2022 |
Late-onset retinal degeneration | 1 | May 27, 2022 |
Lesch-Nyhan syndrome | 1 | Apr 16, 2024 |
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 1 | Sep 26, 2022 |
Linear skin defects with multiple congenital anomalies 1 | 1 | Jul 22, 2023 |
Lissencephaly 9 with complex brainstem malformation | 1 | Jul 29, 2021 |
Lissencephaly due to TUBA1A mutation | 2 | Sep 30, 2020 |
Loeys-Dietz syndrome 4 | 1 | Mar 19, 2024 |
Long QT syndrome 1 | 1 | Feb 16, 2023 |
Long QT syndrome 12 | 1 | Nov 12, 2020 |
Long QT syndrome 2 | 2 | Jan 4, 2022 |
Long QT syndrome 3 | 1 | Jun 7, 2022 |
Long QT syndrome 6 | 1 | May 23, 2022 |
Long qt syndrome 8 | 1 | Dec 18, 2020 |
Lower limb spasticity | 1 | Jul 19, 2019 |
Luscan-Lumish syndrome | 1 | Sep 29, 2020 |
Lynch syndrome 1 | 2 | Mar 5, 2021 |
Lynch syndrome 5 | 1 | Mar 15, 2018 |
Macrocephaly | 1 | Jul 26, 2019 |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2 | Aug 24, 2023 |
Macular degeneration, age-related, 3 | 1 | Jun 18, 2021 |
Macular dystrophy with central cone involvement | 1 | Jan 23, 2023 |
Maple syrup urine disease, mild variant | 1 | Jun 7, 2023 |
Marfan syndrome | 3 | Mar 27, 2024 |
Maturity-onset diabetes of the young type 2 | 1 | Oct 21, 2020 |
McCune-Albright syndrome | 1 | Mar 26, 2024 |
Megalencephalic leukoencephalopathy with subcortical cysts 2A | 1 | Aug 18, 2017 |
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 1 | Aug 18, 2017 |
Meier-Gorlin syndrome 1 | 2 | Jul 7, 2021 |
Menke-Hennekam syndrome 1 | 1 | Feb 18, 2021 |
Methylcobalamin deficiency type cblG | 1 | Mar 27, 2024 |
Methylmalonic acidemia with homocystinuria, type cblX | 1 | Mar 26, 2024 |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | May 14, 2021 |
Microcephaly | 5 | Jun 30, 2020 |
Microcephaly 18, primary, autosomal dominant | 1 | Oct 6, 2021 |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | May 15, 2018 |
Microcephaly 20, primary, autosomal recessive | 1 | Sep 22, 2020 |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Mar 9, 2022 |
Microcephaly, short stature, and limb abnormalities | 1 | Oct 2, 2018 |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Mar 26, 2024 |
Mucocutaneous ulceration, chronic | 1 | Apr 12, 2024 |
Mucolipidosis type II | 1 | Feb 27, 2024 |
Mucopolysaccharidosis, MPS-III-C | 1 | Sep 22, 2020 |
Muir-Torré syndrome | 1 | Feb 3, 2022 |
Muscular atrophy | 1 | Jul 30, 2021 |
Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | May 19, 2022 |
Myopathy | 2 | Apr 4, 2019 |
Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Oct 2, 2020 |
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | 1 | Aug 27, 2021 |
Myopathy, proximal, and ophthalmoplegia | 1 | Sep 22, 2020 |
Nail-patella syndrome | 1 | May 19, 2023 |
Nemaline myopathy 2 | 1 | Dec 9, 2020 |
Nemaline myopathy 6 | 1 | Jun 15, 2020 |
Nephronophthisis 14 | 1 | Oct 29, 2020 |
Neurodegeneration with brain iron accumulation 5 | 1 | Dec 27, 2019 |
Neurodevelopmental abnormality | 1 | Aug 2, 2022 |
Neurodevelopmental delay | 4 | Jul 19, 2019 |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Jan 15, 2024 |
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Jan 20, 2022 |
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 2 | Oct 7, 2022 |
Neurodevelopmental disorder with eye movement abnormalities and ataxia | 1 | Feb 16, 2023 |
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Jul 13, 2022 |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Apr 28, 2023 |
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Mar 21, 2023 |
Neurodevelopmental disorder with or without autism or seizures | 1 | Mar 22, 2023 |
Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 | Jun 30, 2023 |
Neurodevelopmental disorder with severe motor impairment and absent language | 1 | Jan 3, 2022 |
Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Dec 10, 2020 |
Neurofibromatosis, type 1 | 3 | Jul 13, 2023 |
Neuronopathy, distal hereditary motor, autosomal dominant 11 | 1 | Nov 14, 2023 |
Neuronopathy, distal hereditary motor, type 7B | 2 | Jun 4, 2021 |
Nicolaides-Baraitser syndrome | 2 | Aug 8, 2023 |
Nijmegen breakage syndrome-like disorder | 1 | Mar 27, 2024 |
Noonan syndrome 10 | 1 | Jan 31, 2024 |
Noonan syndrome 4 | 1 | Dec 30, 2019 |
Norman-Roberts syndrome | 1 | May 15, 2018 |
O'Donnell-Luria-Rodan syndrome | 1 | Oct 27, 2021 |
Obesity | 1 | Oct 21, 2020 |
Occult macular dystrophy | 1 | Apr 12, 2022 |
Oculomotor apraxia | 2 | Nov 23, 2021 |
Ogden syndrome | 2 | May 20, 2022 |
Optic atrophy 9 | 4 | Mar 26, 2024 |
Orofaciodigital syndrome I | 1 | Sep 12, 2018 |
Osteochondritis dissecans | 1 | Feb 22, 2021 |
Osteogenesis imperfecta | 1 | Apr 7, 2022 |
Osteogenesis imperfecta type I | 2 | Feb 6, 2024 |
Osteopathia striata with cranial sclerosis | 1 | Jun 9, 2022 |
Osteoporosis | 2 | Mar 7, 2022 |
Oto-palato-digital syndrome, type I | 1 | Jan 23, 2023 |
PERCHING syndrome | 2 | Sep 8, 2021 |
PHARC syndrome | 1 | May 20, 2022 |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Mar 8, 2023 |
Papillary renal cell carcinoma type 1 | 1 | May 5, 2023 |
Parenti-mignot neurodevelopmental syndrome | 1 | Mar 5, 2024 |
Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Sep 9, 2022 |
Paroxysmal dyskinesia | 1 | Mar 18, 2022 |
Periventricular nodular heterotopia 9 | 3 | May 19, 2023 |
Peroxisome biogenesis disorder 9B | 1 | Feb 9, 2021 |
Peters plus syndrome | 1 | Sep 8, 2021 |
Phelan-McDermid syndrome | 3 | Mar 17, 2023 |
Pheochromocytoma | 1 | Mar 25, 2024 |
Pigmented nodular adrenocortical disease, primary, 2 | 1 | May 17, 2023 |
Pilarowski-Bjornsson syndrome | 1 | Mar 6, 2023 |
Polycystic kidney disease 2 | 1 | Jun 21, 2021 |
Polyneuropathy | 1 | Mar 11, 2022 |
Pontocerebellar hypoplasia type 2A | 1 | Jul 26, 2019 |
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 1 | Dec 18, 2020 |
Pontocerebellar hypoplasia, type 1C | 2 | Jun 9, 2022 |
Premature ovarian failure 3 | 2 | Mar 27, 2024 |
Premature ovarian failure 7 | 1 | Jan 3, 2023 |
Primrose syndrome | 1 | Feb 4, 2022 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 | Oct 21, 2020 |
Progressive familial heart block type IB | 1 | Aug 8, 2017 |
Progressive sclerosing poliodystrophy | 1 | Mar 5, 2021 |
Protan defect | 1 | Dec 15, 2023 |
Ptosis | 1 | Apr 4, 2019 |
Rahman syndrome | 1 | Mar 27, 2024 |
Rajab interstitial lung disease with brain calcifications 2 | 2 | Dec 13, 2022 |
Renal agenesis | 1 | Jul 19, 2019 |
Renal hypoplasia/aplasia | 1 | Jul 19, 2019 |
Renpenning syndrome | 1 | Mar 3, 2021 |
Retinitis pigmentosa 11 | 1 | May 23, 2022 |
Retinitis pigmentosa 18 | 1 | Dec 14, 2021 |
Retinitis pigmentosa 2 | 1 | Jan 5, 2022 |
Retinitis pigmentosa 43 | 1 | Sep 5, 2023 |
Retinitis pigmentosa 83 | 1 | Dec 14, 2021 |
Seckel syndrome 5 | 1 | Feb 22, 2017 |
See cases | 13 | Jun 5, 2023 |
Seizure | 5 | Sep 19, 2022 |
Seizures, benign familial neonatal, 2 | 1 | Aug 15, 2023 |
Sensorineural hearing loss disorder | 2 | Apr 13, 2019 |
Sessile serrated polyposis cancer syndrome | 1 | Dec 5, 2022 |
Severe early-childhood-onset retinal dystrophy | 1 | Jul 3, 2023 |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Nov 24, 2022 |
Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 3, 2022 |
Severe myoclonic epilepsy in infancy | 1 | Nov 24, 2022 |
Short stature | 4 | Jan 26, 2022 |
Shukla-Vernon syndrome | 1 | Jun 15, 2020 |
Sifrim-Hitz-Weiss syndrome | 1 | Sep 6, 2023 |
Snijders Blok-Campeau syndrome | 2 | Jan 23, 2023 |
Sotos syndrome | 7 | Dec 5, 2022 |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Jan 23, 2023 |
Spastic tetraparesis | 2 | Feb 4, 2022 |
Spinocerebellar ataxia 47 | 1 | Mar 5, 2021 |
Spinocerebellar ataxia type 14 | 1 | Sep 23, 2020 |
Spinocerebellar ataxia type 29 | 2 | Jul 26, 2022 |
Spinocerebellar ataxia type 35 | 2 | May 27, 2022 |
Spinocerebellar ataxia type 38 | 1 | Nov 12, 2020 |
Spinocerebellar ataxia type 42 | 1 | Jun 8, 2023 |
Spinocerebellar ataxia type 5 | 1 | Mar 22, 2021 |
Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Apr 13, 2023 |
Spondyloepiphyseal dysplasia congenita | 1 | Jan 18, 2023 |
Suleiman-El-Hattab syndrome | 1 | Aug 24, 2021 |
Syndromic X-linked intellectual disability 14 | 1 | Jun 15, 2020 |
Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Oct 8, 2020 |
Syndromic X-linked intellectual disability Najm type | 1 | May 15, 2018 |
Tall stature | 3 | Apr 30, 2020 |
Tatton-Brown-Rahman overgrowth syndrome | 1 | Aug 3, 2018 |
Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Mar 1, 2022 |
Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Jun 28, 2018 |
Timothy syndrome | 1 | Dec 18, 2020 |
Torsion dystonia 4 | 1 | Oct 13, 2022 |
Trichorhinophalangeal dysplasia type I | 2 | Feb 1, 2024 |
Tuberous sclerosis 1 | 1 | Nov 9, 2022 |
Tuberous sclerosis 2 | 1 | Nov 25, 2022 |
Tyrosinase-negative oculocutaneous albinism | 1 | Jan 29, 2021 |
Usher syndrome | 1 | Oct 7, 2020 |
Usher syndrome type 2A | 4 | Jan 23, 2023 |
Usher syndrome type 2C | 1 | Sep 6, 2023 |
Vertebral hypersegmentation and orofacial anomalies | 1 | Aug 22, 2022 |
Ververi-Brady syndrome | 1 | May 14, 2021 |
Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jun 15, 2020 |
Vissers-Bodmer syndrome | 1 | Jul 1, 2021 |
Vitelliform macular dystrophy 2 | 1 | Apr 19, 2023 |
Vitelliform macular dystrophy 4 | 1 | Jan 11, 2023 |
Weaver syndrome | 1 | Jul 18, 2017 |
Wiedemann-Steiner syndrome | 1 | Jun 3, 2022 |
X-linked intellectual disability Cabezas type | 1 | Mar 22, 2022 |
X-linked intellectual disability, Cantagrel type | 1 | Oct 9, 2020 |
X-linked mixed hearing loss with perilymphatic gusher | 1 | May 25, 2022 |
Zimmermann-laband syndrome 3 | 1 | Dec 21, 2022 |
neuro-ectodermal phenotype | 1 | Dec 2, 2019 |
not provided | 12 | Oct 10, 2018 |
not specified | 10 | Jul 5, 2017 |