| 2-3 toe syndactyly | 2 | Jul 7, 2023 |
| 2-hydroxyglutaric aciduria | 2 | Mar 9, 2020 |
| 3-methylglutaconic aciduria, type VIIB | 2 | May 4, 2017 |
| 8q24.3 microdeletion syndrome | 3 | Jul 7, 2023 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 4 | Sep 9, 2021 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | May 4, 2017 |
| ALG1-congenital disorder of glycosylation | 2 | Mar 1, 2017 |
| ALG12-congenital disorder of glycosylation | 2 | Jun 10, 2021 |
| Abnormal facial shape | 8 | Jul 7, 2023 |
| Abnormal testis morphology | 1 | Jul 7, 2023 |
| Abnormality of the face | 2 | Jul 7, 2023 |
| Abnormality of the outer ear | 1 | Jul 12, 2023 |
| Absent/hypoplastic coccyx | 2 | Jul 7, 2023 |
| Acquired polycythemia vera | 1 | Sep 9, 2021 |
| Acrocephalosyndactyly type I | 1 | Nov 26, 2019 |
| Acromesomelic dysplasia 3 | 1 | Mar 9, 2020 |
| Acute intermittent porphyria | 1 | Sep 26, 2022 |
| Acute myeloid leukemia | 1 | May 5, 2025 |
| Adams-Oliver syndrome 3 | 1 | Nov 28, 2022 |
| Adams-Oliver syndrome 6 | 1 | Jun 17, 2020 |
| Adrenoleukodystrophy | 1 | Mar 2, 2021 |
| Aicardi-Goutieres syndrome 7 | 2 | Nov 28, 2022 |
| Alagille syndrome due to a JAG1 point mutation | 2 | Nov 28, 2022 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Aug 16, 2021 |
| Alkuraya-Kucinskas syndrome | 2 | Oct 21, 2020 |
| Alzheimer disease 3 | 1 | May 5, 2025 |
| Alzheimer disease 9 | 1 | May 5, 2025 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 | Nov 28, 2022 |
| Amelogenesis imperfecta type 1A | 1 | Jul 11, 2023 |
| Amelogenesis imperfecta type 1G | 1 | Sep 9, 2021 |
| Amyotrophic lateral sclerosis type 18 | 1 | Nov 28, 2022 |
| Amyotrophic lateral sclerosis type 5 | 2 | May 5, 2025 |
| Aniridia 1 | 1 | Jul 30, 2018 |
| Anterior segment dysgenesis 3 | 1 | Mar 5, 2025 |
| Anxiety | 3 | Jul 11, 2023 |
| Aplasia/Hypoplasia of the macula | 1 | Jul 7, 2023 |
| Apraxia | 1 | Jul 7, 2023 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 1 | Nov 28, 2022 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Sep 9, 2021 |
| Arrhythmogenic right ventricular dysplasia 9 | 8 | Jan 8, 2021 |
| Arthritis | 2 | Jul 7, 2023 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Jun 10, 2021 |
| Arthrogryposis multiplex congenita 5 | 2 | Jul 7, 2023 |
| Arthrogryposis, distal, type 2B2 | 1 | Jun 10, 2021 |
| Ataxia-telangiectasia syndrome | 3 | Mar 5, 2025 |
| Atrial septal defect | 4 | Jul 11, 2023 |
| Atrial septal defect 3 | 2 | Mar 9, 2020 |
| Atrial septal defect 9 | 1 | Mar 2, 2021 |
| Atrioventricular septal defect, susceptibility to, 2 | 1 | Nov 5, 2020 |
| Atrophia bulborum hereditaria | 1 | May 4, 2017 |
| Attention deficit hyperactivity disorder | 8 | Jul 11, 2023 |
| Atypical behavior | 1 | Jul 7, 2023 |
| Au-Kline syndrome | 3 | Sep 9, 2021 |
| Autism | 11 | Jul 11, 2023 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | May 4, 2017 |
| Autism, susceptibility to, 17 | 1 | May 4, 2017 |
| Autism, susceptibility to, X-linked 4 | 1 | Sep 9, 2021 |
| Autistic behavior | 8 | Jul 11, 2023 |
| Autoimmune lymphoproliferative syndrome type 2A | 1 | Sep 9, 2021 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 | Jan 16, 2024 |
| Autosomal dominant Opitz G/BBB syndrome | 1 | Mar 26, 2021 |
| Autosomal dominant centronuclear myopathy | 1 | Sep 9, 2021 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | May 4, 2017 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2 | May 5, 2025 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Jul 11, 2023 |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 | Oct 21, 2020 |
| Autosomal recessive early-onset Parkinson disease 23 | 1 | May 5, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | Jul 17, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Jul 11, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Sep 15, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | May 5, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 2 | Oct 8, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 4 | Sep 9, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 | May 4, 2017 |
| Autosomal recessive nonsyndromic hearing loss 18B | 2 | Sep 9, 2021 |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 | Sep 9, 2021 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Sep 9, 2021 |
| Autosomal recessive spinocerebellar ataxia 15 | 2 | Jul 7, 2023 |
| Autosomal recessive spinocerebellar ataxia 20 | 2 | May 4, 2017 |
| Axenfeld-Rieger syndrome type 3 | 2 | Mar 5, 2025 |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 | Sep 2, 2022 |
| Baraitser-Winter syndrome 1 | 1 | May 18, 2022 |
| Baraitser-winter syndrome 2 | 1 | Jul 30, 2019 |
| Bartter disease type 3 | 2 | Jul 30, 2024 |
| Beck-Fahrner syndrome | 1 | Jul 11, 2023 |
| Bethlem myopathy 1A | 1 | Nov 12, 2018 |
| Bleeding disorder, platelet-type, 24 | 1 | Aug 16, 2021 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Mar 5, 2025 |
| Bohring-Opitz syndrome | 1 | Mar 9, 2020 |
| Borjeson-Forssman-Lehmann syndrome | 1 | May 4, 2017 |
| Bradycardia | 1 | Jul 7, 2023 |
| Brain dopamine-serotonin vesicular transport disease | 1 | May 5, 2025 |
| Brain malformations with or without urinary tract defects | 1 | Jul 7, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Oct 21, 2020 |
| Branchiooculofacial syndrome | 2 | Oct 21, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 10 | Oct 26, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 17 | Nov 28, 2022 |
| Broad eyebrow | 1 | Jul 11, 2023 |
| Brugada syndrome 1 | 1 | Aug 16, 2021 |
| Bulbous nose | 1 | Jul 11, 2023 |
| C syndrome | 1 | Aug 16, 2021 |
| CBL-related disorder | 2 | Mar 6, 2020 |
| CHARGE syndrome | 12 | May 18, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 3 | May 24, 2018 |
| Cardiac arrhythmia | 2 | Jul 11, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Apr 17, 2024 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Mar 9, 2020 |
| Cardiac-urogenital syndrome | 2 | Jun 17, 2020 |
| Cardiofaciocutaneous syndrome 1 | 2 | Mar 2, 2021 |
| Cardiomyopathy, dilated, 2D | 2 | Aug 16, 2021 |
| Cardiospondylocarpofacial syndrome | 2 | Jun 17, 2020 |
| Cataract 18 | 2 | Jul 6, 2017 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | May 18, 2022 |
| Catel-Manzke syndrome | 1 | Oct 21, 2020 |
| Central core myopathy | 4 | May 18, 2022 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Jan 25, 2024 |
| Cerebellar ataxia | 3 | Jul 7, 2023 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | May 24, 2019 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Jan 25, 2024 |
| Cerebral cavernous malformation | 1 | May 24, 2019 |
| Cerebral cavernous malformation 2 | 1 | Nov 28, 2022 |
| Cerebral white matter hypoplasia | 1 | Jul 7, 2023 |
| Cerebro-costo-mandibular syndrome | 1 | Feb 21, 2023 |
| Cerebrooculofacioskeletal syndrome 2 | 2 | Oct 21, 2020 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Jul 30, 2019 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | May 5, 2025 |
| Charcot-Marie-Tooth disease axonal type 2T | 2 | May 4, 2017 |
| Charcot-Marie-Tooth disease axonal type 2X | 4 | May 5, 2025 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Mar 5, 2025 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Mar 5, 2025 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | May 5, 2025 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1H | 1 | May 17, 2023 |
| Chiari malformation | 1 | Jul 7, 2023 |
| Childhood apraxia of speech | 1 | Jul 7, 2023 |
| Childhood onset GLUT1 deficiency syndrome 2 | 3 | Mar 6, 2020 |
| Chopra-Amiel-Gordon syndrome | 1 | Mar 5, 2025 |
| Christianson syndrome | 1 | Nov 28, 2022 |
| Chromosome 2q32-q33 deletion syndrome | 3 | Nov 28, 2022 |
| Chudley-McCullough syndrome | 1 | Jul 11, 2023 |
| Ciliary dyskinesia, primary, 37 | 1 | Sep 9, 2021 |
| Clinodactyly | 3 | Jul 7, 2023 |
| Clubfoot | 1 | Jul 12, 2023 |
| Coffin-Lowry syndrome | 1 | Sep 9, 2021 |
| Coffin-Siris syndrome 1 | 6 | Aug 16, 2021 |
| Coffin-Siris syndrome 6 | 1 | Nov 9, 2021 |
| Cognitive impairment | 2 | Jul 11, 2023 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Jul 7, 2023 |
| Cognitive regression | 1 | Jul 11, 2023 |
| Colitis | 1 | Jul 11, 2023 |
| Colorectal cancer | 1 | Mar 5, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 3 | Dec 9, 2019 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | Nov 8, 2017 |
| Complement component 6 deficiency | 1 | May 18, 2022 |
| Complement component 7 deficiency | 1 | May 18, 2022 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Jul 7, 2023 |
| Complex cortical dysplasia with other brain malformations 6 | 2 | Sep 9, 2021 |
| Complex cortical dysplasia with other brain malformations 7 | 2 | Mar 26, 2021 |
| Complex lethal osteochondrodysplasia | 1 | Oct 18, 2021 |
| Compulsive behaviors | 1 | Jul 7, 2023 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Mar 9, 2020 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Sep 9, 2021 |
| Congenital central hypoventilation | 2 | Nov 9, 2021 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | May 4, 2017 |
| Congenital disorder of glycosylation, type IIz | 1 | May 5, 2025 |
| Congenital factor VII deficiency | 1 | May 18, 2022 |
| Congenital fibrosis of extraocular muscles type 1 | 2 | Jul 7, 2023 |
| Congenital heart defects and ectodermal dysplasia | 1 | Mar 2, 2021 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | May 4, 2017 |
| Congenital heart defects, multiple types, 2 | 1 | Nov 28, 2022 |
| Congenital heart defects, multiple types, 5 | 1 | Sep 9, 2021 |
| Congenital laryngomalacia | 1 | Jul 7, 2023 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Nov 9, 2021 |
| Congenital muscular hypertrophy-cerebral syndrome | 2 | Jun 17, 2020 |
| Congenital myopathy 4B, autosomal recessive | 1 | Mar 9, 2020 |
| Congenital myotonia, autosomal dominant form | 3 | May 18, 2022 |
| Cornelia de Lange syndrome 1 | 1 | Jun 10, 2021 |
| Cornelia de Lange syndrome 3 | 1 | Mar 3, 2016 |
| Cornelia de Lange syndrome 5 | 2 | May 4, 2017 |
| Coronary artery atherosclerosis | 2 | Jul 7, 2023 |
| Corticobasal syndrome | 2 | Oct 28, 2019 |
| Cowden syndrome 1 | 1 | Dec 9, 2019 |
| Cowden syndrome 5 | 1 | Sep 9, 2021 |
| Cranial asymmetry | 1 | Jul 11, 2023 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 | Oct 18, 2021 |
| Craniofrontonasal syndrome | 1 | Jun 17, 2020 |
| Creatine transporter deficiency | 1 | Sep 2, 2022 |
| Cystic fibrosis | 8 | May 24, 2018 |
| Cystinuria | 2 | Sep 26, 2022 |
| DDX41-related hematologic malignancy predisposition syndrome | 1 | Jul 6, 2017 |
| DYRK1A-related intellectual disability syndrome | 2 | May 4, 2017 |
| Decreased response to growth hormone stimulation test | 1 | Jul 7, 2023 |
| Deeah syndrome | 1 | Aug 16, 2021 |
| Deeply set eye | 1 | Jul 11, 2023 |
| Delayed skeletal maturation | 2 | Jul 7, 2023 |
| Delayed speech and language development | 23 | Jul 11, 2023 |
| Dent disease type 2 | 1 | May 24, 2019 |
| Dental crowding | 1 | Jul 11, 2023 |
| Dentinogenesis imperfecta type 2 | 1 | Jul 11, 2023 |
| Desmosterolosis | 2 | Mar 9, 2020 |
| Developmental and epileptic encephalopathy 100 | 1 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy 106 | 1 | Jul 11, 2023 |
| Developmental and epileptic encephalopathy 6B | 2 | Nov 9, 2021 |
| Developmental and epileptic encephalopathy 93 | 1 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy 94 | 2 | May 4, 2017 |
| Developmental and epileptic encephalopathy 97 | 1 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy, 1 | 2 | Dec 21, 2017 |
| Developmental and epileptic encephalopathy, 11 | 5 | Mar 6, 2023 |
| Developmental and epileptic encephalopathy, 13 | 6 | Mar 6, 2023 |
| Developmental and epileptic encephalopathy, 14 | 2 | May 24, 2018 |
| Developmental and epileptic encephalopathy, 17 | 1 | Jan 25, 2024 |
| Developmental and epileptic encephalopathy, 19 | 1 | Mar 3, 2016 |
| Developmental and epileptic encephalopathy, 2 | 1 | Dec 11, 2017 |
| Developmental and epileptic encephalopathy, 26 | 1 | Sep 9, 2021 |
| Developmental and epileptic encephalopathy, 27 | 2 | Mar 5, 2025 |
| Developmental and epileptic encephalopathy, 31A | 1 | Mar 3, 2016 |
| Developmental and epileptic encephalopathy, 38 | 2 | Sep 9, 2021 |
| Developmental and epileptic encephalopathy, 4 | 2 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy, 42 | 4 | Jan 25, 2024 |
| Developmental and epileptic encephalopathy, 46 | 1 | Jul 30, 2019 |
| Developmental and epileptic encephalopathy, 47 | 1 | May 4, 2017 |
| Developmental and epileptic encephalopathy, 49 | 2 | Feb 6, 2017 |
| Developmental and epileptic encephalopathy, 5 | 1 | May 18, 2022 |
| Developmental and epileptic encephalopathy, 54 | 3 | May 18, 2022 |
| Developmental and epileptic encephalopathy, 58 | 1 | Feb 5, 2018 |
| Developmental and epileptic encephalopathy, 62 | 1 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy, 65 | 1 | Jul 31, 2019 |
| Developmental and epileptic encephalopathy, 69 | 3 | Nov 28, 2022 |
| Developmental and epileptic encephalopathy, 7 | 4 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy, 78 | 1 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy, 82 | 2 | Jul 7, 2023 |
| Developmental and epileptic encephalopathy, 9 | 1 | Nov 28, 2022 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Nov 28, 2022 |
| Developmental regression | 1 | Jul 7, 2023 |
| Diabetes mellitus, permanent neonatal 4 | 1 | Sep 9, 2021 |
| Dias-Logan syndrome | 1 | Sep 9, 2021 |
| Diets-Jongmans syndrome | 1 | Nov 28, 2022 |
| Dilated cardiomyopathy 1BB | 2 | Jul 6, 2017 |
| Dilated cardiomyopathy 1G | 4 | May 5, 2025 |
| Dilated cardiomyopathy 1R | 1 | Mar 9, 2020 |
| Donnai-Barrow syndrome | 1 | May 18, 2022 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 2 | Mar 6, 2020 |
| Duane-radial ray syndrome | 1 | Dec 9, 2019 |
| Dyslexia | 2 | Jul 11, 2023 |
| Dystonic disorder | 1 | Jul 7, 2023 |
| Early-onset dementia of unclear type | 5 | Oct 28, 2019 |
| Early-onset generalized limb-onset dystonia | 1 | May 24, 2018 |
| Early-onset myopathy with fatal cardiomyopathy | 2 | May 5, 2025 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 3 | Jul 7, 2023 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 2 | Mar 9, 2020 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 2 | Jan 25, 2024 |
| Ehlers-Danlos syndrome, type 4 | 1 | May 5, 2025 |
| Ellis-van Creveld syndrome | 2 | Mar 9, 2020 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | May 5, 2025 |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 | May 18, 2022 |
| Encephalomalacia | 2 | Jul 7, 2023 |
| Encephalopathy due to GLUT1 deficiency | 3 | Jan 8, 2021 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 | May 24, 2018 |
| Encephalopathy, acute, infection-induced, susceptibility to, 9 | 2 | Mar 26, 2021 |
| Epicanthus | 1 | Jul 11, 2023 |
| Epilepsy with myoclonic atonic seizures | 1 | Mar 3, 2016 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Sep 2, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | May 24, 2019 |
| Epiphyseal dysplasia, multiple, 3 | 2 | Mar 9, 2020 |
| Episodic ataxia type 2 | 5 | Jan 25, 2024 |
| Esotropia | 1 | Jul 7, 2023 |
| Expressive language delay | 1 | Jul 11, 2023 |
| FG syndrome 1 | 1 | Nov 12, 2018 |
| FOXG1 disorder | 3 | May 4, 2017 |
| Fabry disease | 2 | Aug 2, 2019 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Oct 21, 2020 |
| Failure to thrive | 2 | Jul 11, 2023 |
| Falls | 1 | Jul 11, 2023 |
| Familial adenomatous polyposis 1 | 1 | Jul 17, 2018 |
| Familial adenomatous polyposis 2 | 7 | Apr 7, 2020 |
| Familial cancer of breast | 7 | Mar 5, 2025 |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 | Jul 30, 2019 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | May 24, 2019 |
| Familial hypobetalipoproteinemia 1 | 1 | Dec 9, 2019 |
| Familial infantile myasthenia | 2 | Mar 9, 2020 |
| Familial isolated deficiency of vitamin E | 1 | May 4, 2017 |
| Familial medullary thyroid carcinoma | 3 | Dec 9, 2019 |
| Familial prostate cancer | 1 | Mar 5, 2025 |
| Familial renal glucosuria | 1 | Sep 9, 2021 |
| Fanconi anemia complementation group N | 1 | Mar 9, 2020 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Mar 9, 2020 |
| Faundes-Banka syndrome | 1 | Aug 1, 2024 |
| Feingold syndrome type 1 | 1 | Jul 11, 2023 |
| Finger clinodactyly | 1 | Jul 7, 2023 |
| Finnish congenital nephrotic syndrome | 3 | Jan 25, 2024 |
| Floating-Harbor syndrome | 1 | May 24, 2019 |
| Focal impaired awareness seizure | 1 | Jul 7, 2023 |
| Focal segmental glomerulosclerosis 8 | 1 | Sep 26, 2022 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 1 | Nov 28, 2022 |
| Frontotemporal dementia | 3 | May 5, 2025 |
| Fucosidosis | 1 | Jul 30, 2019 |
| GM1 gangliosidosis type 2 | 2 | May 4, 2017 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Jun 10, 2021 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Aug 3, 2018 |
| Genitopatellar syndrome | 1 | Mar 5, 2025 |
| Gillespie syndrome | 2 | Sep 9, 2021 |
| Global developmental delay | 1 | Jul 11, 2023 |
| Glycine encephalopathy | 1 | Sep 9, 2021 |
| Glycogen storage disease, type II | 2 | Jun 17, 2020 |
| Gray matter heterotopia | 1 | Jul 7, 2023 |
| Greig cephalopolysyndactyly syndrome | 2 | Jul 30, 2019 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 2 | Mar 6, 2020 |
| Hajdu-Cheney syndrome | 2 | Mar 9, 2020 |
| Hb SS disease | 1 | May 24, 2018 |
| Hearing impairment | 3 | Jul 11, 2023 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 2 | Jun 10, 2021 |
| Heimler syndrome 1 | 2 | Nov 28, 2022 |
| Hereditary factor IX deficiency disease | 1 | Sep 9, 2021 |
| Hereditary spastic paraplegia 11 | 4 | May 5, 2025 |
| Hereditary spastic paraplegia 47 | 2 | Mar 6, 2020 |
| Hereditary spastic paraplegia 7 | 1 | Sep 15, 2023 |
| Hereditary spastic paraplegia 9A | 1 | Feb 28, 2018 |
| Hereditary spherocytosis type 1 | 1 | Aug 16, 2021 |
| Hereditary spherocytosis type 4 | 1 | Jul 6, 2017 |
| High palate | 1 | Jul 11, 2023 |
| Hip dislocation | 1 | Jul 11, 2023 |
| Hirschsprung disease, susceptibility to, 1 | 2 | Nov 28, 2022 |
| Holoprosencephaly 3 | 1 | Mar 9, 2020 |
| Holt-Oram syndrome | 1 | Mar 9, 2020 |
| Houge-Janssens syndrome 1 | 1 | Mar 3, 2016 |
| Houge-Janssens syndrome 2 | 2 | Feb 16, 2024 |
| Huntington disease | 1 | May 5, 2025 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 | Jun 17, 2020 |
| Hyperactivity | 1 | Jul 11, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 2 | Sep 9, 2021 |
| Hypercholesterolemia, familial, 1 | 5 | Apr 7, 2020 |
| Hyperekplexia 3 | 1 | Sep 26, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Nov 28, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 2 | Mar 9, 2020 |
| Hypertensive disorder | 2 | Jul 7, 2023 |
| Hypertonia | 2 | Jul 11, 2023 |
| Hypertrophic cardiomyopathy 1 | 7 | Oct 21, 2020 |
| Hypertrophic cardiomyopathy 4 | 10 | Nov 28, 2022 |
| Hypertrophic cardiomyopathy 9 | 2 | May 5, 2025 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | May 24, 2019 |
| Hypospadias | 2 | Jul 7, 2023 |
| Hypotonia | 9 | Jul 11, 2023 |
| Hypotonia, ataxia, and delayed development syndrome | 3 | Mar 5, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | May 4, 2017 |
| Immunodeficiency 14b, autosomal recessive | 1 | May 18, 2022 |
| Immunodeficiency 67 | 1 | May 18, 2022 |
| Immunodeficiency 91 and hyperinflammation | 2 | Sep 15, 2023 |
| Immunodeficiency, common variable, 10 | 1 | May 5, 2025 |
| Imperforate anus | 2 | Jul 7, 2023 |
| Infantile convulsions and choreoathetosis | 1 | Nov 26, 2019 |
| Infantile liver failure syndrome 2 | 2 | Aug 1, 2024 |
| Infantile liver failure syndrome 3 | 1 | Oct 26, 2020 |
| Infantile nephronophthisis | 2 | May 24, 2019 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Nov 28, 2022 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 2 | Mar 9, 2020 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Sep 9, 2021 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Jul 31, 2019 |
| Intellectual developmental disorder, autosomal dominant 66 | 1 | Oct 28, 2022 |
| Intellectual disability, X-linked 1 | 1 | Jul 30, 2019 |
| Intellectual disability, X-linked 100 | 1 | May 18, 2022 |
| Intellectual disability, X-linked 101 | 1 | Mar 3, 2016 |
| Intellectual disability, X-linked 102 | 3 | Sep 9, 2021 |
| Intellectual disability, X-linked 103 | 1 | Mar 6, 2020 |
| Intellectual disability, X-linked 107 | 1 | Nov 28, 2022 |
| Intellectual disability, X-linked 30 | 1 | Jul 30, 2019 |
| Intellectual disability, X-linked 90 | 1 | May 4, 2017 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Jun 17, 2020 |
| Intellectual disability, X-linked syndromic, Turner type | 3 | May 18, 2022 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Sep 9, 2021 |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 1 | Dec 21, 2017 |
| Intellectual disability, autosomal dominant 11 | 1 | Nov 28, 2022 |
| Intellectual disability, autosomal dominant 13 | 5 | May 5, 2025 |
| Intellectual disability, autosomal dominant 14 | 1 | Mar 9, 2020 |
| Intellectual disability, autosomal dominant 16 | 2 | Oct 21, 2020 |
| Intellectual disability, autosomal dominant 22 | 2 | May 24, 2018 |
| Intellectual disability, autosomal dominant 24 | 1 | Feb 6, 2017 |
| Intellectual disability, autosomal dominant 30 | 1 | May 4, 2017 |
| Intellectual disability, autosomal dominant 34 | 1 | Aug 16, 2021 |
| Intellectual disability, autosomal dominant 39 | 1 | May 4, 2017 |
| Intellectual disability, autosomal dominant 41 | 1 | Jul 11, 2023 |
| Intellectual disability, autosomal dominant 48 | 1 | May 24, 2019 |
| Intellectual disability, autosomal dominant 5 | 2 | Jan 21, 2025 |
| Intellectual disability, autosomal dominant 50 | 3 | Nov 28, 2022 |
| Intellectual disability, autosomal dominant 52 | 2 | Nov 28, 2022 |
| Intellectual disability, autosomal dominant 56 | 1 | Jul 31, 2019 |
| Intellectual disability, autosomal dominant 57 | 1 | Mar 6, 2020 |
| Intellectual disability, autosomal dominant 6 | 2 | Mar 5, 2025 |
| Intellectual disability, autosomal dominant 9 | 2 | May 4, 2017 |
| Intellectual disability, autosomal recessive 13 | 2 | Jul 30, 2018 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | May 4, 2017 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 4 | May 18, 2022 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 3 | Jan 25, 2024 |
| Irido-corneo-trabecular dysgenesis | 1 | May 18, 2022 |
| Joint laxity | 1 | Jul 7, 2023 |
| Joubert syndrome 23 | 2 | Sep 9, 2021 |
| Joubert syndrome 3 | 2 | May 24, 2019 |
| KBG syndrome | 9 | Jul 7, 2023 |
| KINSSHIP syndrome | 1 | Aug 1, 2024 |
| Kabuki syndrome 1 | 7 | Nov 28, 2022 |
| Kabuki syndrome 2 | 1 | Jul 31, 2019 |
| Kleefstra syndrome 1 | 4 | May 18, 2022 |
| Kleefstra syndrome 2 | 1 | Jul 30, 2018 |
| Kniest dysplasia | 1 | Nov 9, 2021 |
| Kufor-Rakeb syndrome | 1 | Nov 28, 2022 |
| Lamb-Shaffer syndrome | 2 | Jun 10, 2021 |
| Lambdoidal craniosynostosis | 1 | Aug 16, 2021 |
| Landau-Kleffner syndrome | 1 | May 4, 2017 |
| Large for gestational age | 1 | Jul 12, 2023 |
| Lateral meningocele syndrome | 1 | Jan 25, 2024 |
| Lethal congenital contracture syndrome 11 | 1 | Jan 8, 2021 |
| Lethal congenital contracture syndrome 7 | 2 | Nov 5, 2020 |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 | Feb 28, 2018 |
| Leukoencephalopathy with calcifications and cysts | 2 | Sep 15, 2023 |
| Liang-Wang syndrome | 1 | May 18, 2022 |
| Linear skin defects with multiple congenital anomalies 1 | 1 | Nov 9, 2021 |
| Long QT syndrome 1 | 8 | Sep 2, 2021 |
| Long QT syndrome 2 | 1 | Aug 2, 2019 |
| Long QT syndrome 3 | 3 | Jan 16, 2024 |
| Lymphatic malformation 6 | 2 | Nov 26, 2019 |
| Lynch syndrome 1 | 2 | Aug 2, 2019 |
| Lynch syndrome 4 | 6 | Nov 28, 2022 |
| Lynch syndrome 5 | 4 | May 18, 2022 |
| MELAS syndrome | 2 | Jul 11, 2023 |
| MHC class II deficiency | 1 | Mar 9, 2020 |
| MIRAGE syndrome | 2 | Mar 9, 2022 |
| Macrocephaly | 3 | Jul 11, 2023 |
| Macrocephaly at birth | 1 | Jul 12, 2023 |
| Macrocephaly-autism syndrome | 1 | Aug 3, 2017 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 5 | May 4, 2017 |
| Malignant hyperthermia, susceptibility to, 1 | 6 | Sep 9, 2021 |
| Mandibular prognathia | 1 | Jul 11, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Mar 9, 2020 |
| Marfan syndrome | 2 | May 24, 2019 |
| Maturity-onset diabetes of the young type 8 | 1 | Nov 28, 2022 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | May 24, 2019 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | May 5, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 1 | Sep 26, 2022 |
| Melnick-Needles syndrome | 1 | Oct 21, 2020 |
| Menke-Hennekam syndrome 1 | 2 | May 18, 2022 |
| Menkes kinky-hair syndrome | 2 | May 18, 2022 |
| Merosin deficient congenital muscular dystrophy | 3 | Feb 16, 2024 |
| Methylmalonic acidemia with homocystinuria, type cblX | 3 | Mar 26, 2021 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 3 | Mar 9, 2020 |
| Microcephaly | 2 | Jul 7, 2023 |
| Microcephaly 5, primary, autosomal recessive | 2 | Dec 21, 2017 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 3 | Jul 11, 2023 |
| Midface retrusion | 2 | Jul 11, 2023 |
| Migraine | 1 | Jul 7, 2023 |
| Migraine, familial hemiplegic, 1 | 2 | Jan 25, 2024 |
| Mild global developmental delay | 2 | Jul 7, 2023 |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 | Oct 21, 2020 |
| Mitochondrial complex III deficiency nuclear type 2 | 2 | Oct 21, 2020 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | Mar 9, 2020 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 1 | Nov 9, 2021 |
| Moderate intellectual disability | 22 | Jul 7, 2023 |
| Motor stereotypies | 1 | Jul 7, 2023 |
| Mowat-Wilson syndrome | 3 | May 24, 2018 |
| Multicentric osteolysis nodulosis arthropathy spectrum | 1 | May 24, 2019 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Oct 21, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Mar 1, 2017 |
| Multiple endocrine neoplasia type 2A | 2 | Sep 9, 2021 |
| Multiple gastrointestinal atresias | 2 | Mar 9, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 | Sep 15, 2023 |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 | Sep 15, 2023 |
| Myasthenic syndrome, congenital, 22 | 1 | Mar 2, 2021 |
| Myofibromatosis, infantile, 2 | 1 | Jan 25, 2024 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 | May 5, 2025 |
| Myopia 28, autosomal recessive | 2 | May 5, 2025 |
| Myopia 6 | 1 | Sep 9, 2021 |
| Nemaline myopathy 2 | 2 | May 24, 2019 |
| Nemaline myopathy 8 | 3 | Jun 10, 2021 |
| Neurodegeneration with brain iron accumulation 5 | 3 | Jul 7, 2023 |
| Neurodegeneration with brain iron accumulation 6 | 2 | May 24, 2019 |
| Neurodevelopmental disorder | 1 | Sep 9, 2021 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Nov 28, 2022 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | May 18, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 3 | Jun 10, 2021 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 1 | Sep 9, 2021 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Jul 7, 2023 |
| Neurodevelopmental disorder with hypotonia and dysmorphic facies | 1 | Mar 15, 2024 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 1 | Aug 1, 2024 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 | Jul 7, 2023 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 2 | Jul 11, 2023 |
| Neurodevelopmental disorder with involuntary movements | 2 | Jan 25, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | May 24, 2018 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 1 | Mar 6, 2020 |
| Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 2 | Jul 10, 2023 |
| Neurofibromatosis, type 1 | 4 | May 18, 2022 |
| Neurofibromatosis-Noonan syndrome | 1 | Jun 10, 2021 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 | Jul 7, 2023 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Sep 9, 2021 |
| Neuronal ceroid lipofuscinosis 2 | 2 | Mar 3, 2016 |
| Neuroocular syndrome | 1 | Jul 11, 2023 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Sep 9, 2021 |
| Nicolaides-Baraitser syndrome | 2 | May 4, 2017 |
| Noonan syndrome 1 | 11 | Sep 9, 2021 |
| Noonan syndrome 10 | 1 | Oct 21, 2020 |
| Noonan syndrome 12 | 1 | Mar 2, 2021 |
| Noonan syndrome 2 | 1 | Nov 28, 2022 |
| Noonan syndrome 3 | 1 | Sep 9, 2021 |
| Noonan syndrome 5 | 1 | Mar 9, 2020 |
| Noonan syndrome 8 | 1 | May 4, 2017 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 2 | Nov 9, 2021 |
| Obesity | 2 | Jul 11, 2023 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Nov 26, 2019 |
| Oculocutaneous albinism type 1A | 2 | Jan 25, 2024 |
| Oculocutaneous albinism type 1B | 2 | Jan 25, 2024 |
| Oculopharyngeal muscular dystrophy | 1 | May 24, 2019 |
| Orofaciodigital syndrome type 14 | 3 | May 5, 2025 |
| Osteochondritis dissecans | 3 | Jun 10, 2021 |
| Osteocraniostenosis | 1 | Oct 21, 2020 |
| Osteogenesis imperfecta type III | 1 | Mar 9, 2020 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Aug 16, 2021 |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 | Jul 11, 2023 |
| PCWH syndrome | 1 | Sep 15, 2023 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Mar 6, 2020 |
| PMM2-congenital disorder of glycosylation | 4 | Oct 8, 2024 |
| PTBP1-related neurodevelopmental disorder with skeletal dysplasia | 1 | Dec 9, 2025 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 3 | Sep 9, 2021 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 2 | Jul 7, 2023 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 | May 24, 2018 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Mar 9, 2020 |
| Paramyotonia congenita of Von Eulenburg | 2 | Aug 16, 2021 |
| Parietal foramina 2 | 1 | Aug 1, 2024 |
| Parkinson disease, late-onset | 1 | May 5, 2025 |
| Patent ductus arteriosus | 1 | Jul 7, 2023 |
| Pendred syndrome | 2 | May 24, 2019 |
| Peripheral pulmonary artery stenosis | 2 | Jul 7, 2023 |
| Periventricular heterotopia | 1 | Jul 7, 2023 |
| Periventricular leukomalacia | 2 | Jul 7, 2023 |
| Periventricular nodular heterotopia 8 | 1 | Aug 6, 2019 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Mar 9, 2020 |
| Pes planus | 1 | Jul 11, 2023 |
| Pfeiffer syndrome | 1 | Nov 9, 2021 |
| Phelan-McDermid syndrome | 5 | Jul 7, 2023 |
| Pheochromocytoma/paraganglioma syndrome 4 | 1 | Aug 2, 2019 |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 | Dec 21, 2017 |
| Pick disease | 1 | May 5, 2025 |
| Pierpont syndrome | 1 | Nov 12, 2018 |
| Pitt-Hopkins syndrome | 6 | Mar 6, 2020 |
| Pitt-Hopkins-like syndrome 2 | 2 | May 4, 2017 |
| Platelet-type bleeding disorder 15 | 2 | Feb 28, 2018 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | May 18, 2022 |
| Polycystic kidney disease 2 | 1 | Jul 6, 2017 |
| Polycystic kidney disease 4 | 6 | Nov 9, 2021 |
| Polydactyly, postaxial, type A1 | 1 | Jun 10, 2021 |
| Polydactyly, postaxial, type A8 | 1 | Oct 21, 2020 |
| Polyhydramnios | 1 | Jul 12, 2023 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 1 | May 5, 2025 |
| Pontocerebellar hypoplasia type 4 | 2 | May 18, 2022 |
| Precocious puberty | 1 | Jul 11, 2023 |
| Premature birth | 2 | Jul 7, 2023 |
| Primary ciliary dyskinesia 3 | 4 | Oct 21, 2020 |
| Primary degenerative dementia of the Alzheimer type, presenile onset | 5 | Oct 28, 2019 |
| Prostate cancer, hereditary, 9 | 1 | Sep 26, 2022 |
| Pseudohypoparathyroidism type I A | 1 | May 18, 2022 |
| Psoriasiform dermatitis | 2 | Jul 7, 2023 |
| Pyruvate dehydrogenase E1-alpha deficiency | 5 | Nov 9, 2021 |
| Recessive dystrophic epidermolysis bullosa | 1 | Mar 9, 2020 |
| Renal carnitine transport defect | 3 | Jul 6, 2017 |
| Renal cysts and diabetes syndrome | 1 | Oct 21, 2020 |
| Renal hypodysplasia/aplasia 3 | 3 | Jun 10, 2021 |
| Retrognathia | 1 | Jul 7, 2023 |
| Rett syndrome | 4 | Sep 9, 2021 |
| Ritscher-Schinzel syndrome 4 | 1 | Aug 1, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 4 | Mar 9, 2020 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2 | Mar 9, 2020 |
| STING-associated vasculopathy with onset in infancy | 1 | Sep 9, 2021 |
| Sacral dimple | 1 | Jul 7, 2023 |
| Schaaf-Yang syndrome | 5 | May 18, 2022 |
| Schinzel-Giedion syndrome | 1 | Jan 8, 2021 |
| Schuurs-Hoeijmakers syndrome | 1 | May 4, 2017 |
| Seborrhea-like dermatitis with psoriasiform elements | 1 | Nov 28, 2022 |
| See cases | 128 | May 5, 2025 |
| Seizure | 14 | Jul 11, 2023 |
| Seizures, benign familial neonatal, 2 | 1 | Jul 6, 2017 |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 | Jun 10, 2021 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | May 4, 2017 |
| Severe intellectual disability | 2 | Jul 7, 2023 |
| Severe myoclonic epilepsy in infancy | 8 | Feb 21, 2023 |
| Shallow orbits | 1 | Jul 11, 2023 |
| Short 5th metacarpal | 2 | Jul 7, 2023 |
| Short stature | 1 | Jul 7, 2023 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 1 | Mar 9, 2020 |
| Short stature, microcephaly, and endocrine dysfunction | 2 | May 24, 2019 |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 2 | Mar 9, 2020 |
| Sifrim-Hitz-Weiss syndrome | 2 | Jul 11, 2023 |
| Single umbilical artery | 2 | Jul 7, 2023 |
| Skraban-Deardorff syndrome | 4 | Sep 9, 2021 |
| Sleep apnea | 2 | Jul 11, 2023 |
| Smith-Lemli-Opitz syndrome | 4 | Oct 21, 2020 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Mar 31, 2023 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 | Feb 5, 2018 |
| Spasticity | 2 | Jul 7, 2023 |
| Speech apraxia | 1 | Jul 7, 2023 |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 | Jun 10, 2021 |
| Spinocerebellar ataxia 47 | 1 | Oct 21, 2020 |
| Spinocerebellar ataxia type 15/16 | 2 | Feb 28, 2018 |
| Spinocerebellar ataxia type 29 | 1 | Mar 9, 2020 |
| Spinocerebellar ataxia type 6 | 1 | Jan 25, 2024 |
| Spinocerebellar ataxia type 8 | 2 | May 5, 2025 |
| Spondylo-ocular syndrome | 1 | Jul 7, 2023 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 2 | Mar 6, 2020 |
| Spondyloepiphyseal dysplasia, Stanescu type | 3 | Nov 26, 2019 |
| Stickler syndrome type 1 | 4 | Aug 16, 2021 |
| Strabismus | 2 | Jul 11, 2023 |
| Structural heart defects and renal anomalies syndrome | 4 | Aug 17, 2021 |
| Subglottic stenosis | 1 | Jul 7, 2023 |
| Sudden cardiac failure, infantile | 2 | Nov 26, 2019 |
| Symphalangism-brachydactyly syndrome | 1 | Dec 9, 2019 |
| Syndromic X-linked intellectual disability 34 | 1 | May 18, 2022 |
| Syndromic X-linked intellectual disability 94 | 2 | May 4, 2017 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Jul 20, 2017 |
| Syndromic X-linked intellectual disability Najm type | 1 | Mar 6, 2020 |
| Syndromic X-linked intellectual disability Raymond type | 2 | Sep 2, 2022 |
| Syndromic X-linked intellectual disability Shashi type | 1 | Jul 7, 2023 |
| Syndromic X-linked intellectual disability Snyder type | 1 | May 18, 2022 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | Aug 16, 2021 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 2 | Jul 6, 2017 |
| Tatton-Brown-Rahman overgrowth syndrome | 3 | May 5, 2025 |
| Tay-Sachs disease | 4 | Jul 6, 2017 |
| Tetralogy of Fallot | 1 | Oct 21, 2020 |
| Thanatophoric dysplasia, type 2 | 1 | Jun 17, 2020 |
| Thrombocythemia 3 | 1 | Nov 28, 2022 |
| Thrombocytopenia | 2 | Jul 11, 2023 |
| Tibial muscular dystrophy | 2 | May 5, 2025 |
| Townes-Brocks syndrome 1 | 2 | Mar 26, 2021 |
| Tracheomalacia | 2 | Jul 7, 2023 |
| Tremor | 2 | Jul 11, 2023 |
| Trichohepatoenteric syndrome 1 | 2 | Jul 31, 2019 |
| Trigonocephaly | 1 | Jul 11, 2023 |
| Tuberous sclerosis 1 | 1 | Mar 2, 2021 |
| Tuberous sclerosis 2 | 2 | May 5, 2025 |
| Tyrosinase-positive oculocutaneous albinism | 2 | Jul 6, 2017 |
| Ullrich congenital muscular dystrophy 2 | 2 | Jun 17, 2020 |
| Unverricht-Lundborg syndrome | 1 | May 4, 2017 |
| Van Maldergem syndrome 1 | 2 | Dec 21, 2017 |
| Van der Woude syndrome 2 | 1 | Sep 9, 2021 |
| Ventricular septal defect | 3 | Jul 12, 2023 |
| Ventriculomegaly | 1 | Jul 7, 2023 |
| Vertebral fusion | 2 | Jul 7, 2023 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 1 | Mar 2, 2021 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jun 10, 2021 |
| Waardenburg syndrome type 2E | 1 | Sep 15, 2023 |
| Waardenburg syndrome type 4A | 1 | Nov 28, 2022 |
| Waardenburg syndrome type 4C | 1 | Sep 15, 2023 |
| Wieacker-Wolff syndrome | 1 | Mar 9, 2020 |
| Wiedemann-Steiner syndrome | 3 | May 5, 2025 |
| Wilson disease | 2 | Jul 6, 2017 |
| Wolff-Parkinson-White pattern | 1 | Mar 17, 2023 |
| X-linked Opitz G/BBB syndrome | 1 | Mar 9, 2020 |
| X-linked hydrocephalus syndrome | 1 | Dec 9, 2019 |
| X-linked intellectual disability Cabezas type | 1 | Nov 8, 2017 |
| X-linked intellectual disability, Cantagrel type | 1 | Jun 27, 2016 |
| X-linked intellectual disability, van Esch type | 1 | Sep 9, 2021 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | May 4, 2017 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Nov 5, 2020 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Jan 25, 2024 |
| beta Thalassemia | 2 | Jul 6, 2017 |
| not provided | 80 | Apr 7, 2023 |
| not specified | 52 | Apr 27, 2023 |
