| 15q11q13 microduplication syndrome | 1 | Feb 15, 2019 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Apr 17, 2024 |
| 3-methylglutaconic aciduria, type VIIB | 2 | Feb 27, 2022 |
| 46,XY sex reversal 3 | 1 | Apr 26, 2017 |
| 4p partial monosomy syndrome | 1 | Oct 29, 2021 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2 | Oct 29, 2021 |
| 8q24.3 microdeletion syndrome | 4 | Apr 17, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Apr 26, 2017 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 1 | Nov 26, 2018 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 4 | Oct 17, 2019 |
| AICA-ribosiduria | 2 | Apr 26, 2017 |
| ALDH18A1-related de Barsy syndrome | 1 | Feb 6, 2018 |
| ALG3-congenital disorder of glycosylation | 2 | Jun 14, 2021 |
| Aarskog syndrome | 2 | Apr 17, 2024 |
| Abdominal obesity-metabolic syndrome 3 | 1 | Oct 26, 2017 |
| Abnormal brain morphology | 3 | Jun 14, 2021 |
| Abnormal brainstem MRI signal intensity | 1 | Aug 27, 2019 |
| Abnormal cerebral morphology | 2 | Jun 14, 2021 |
| Abnormal facial shape | 3 | Sep 27, 2022 |
| Abnormal frontal bone morphology | 1 | Apr 26, 2021 |
| Abnormal pyramidal sign | 1 | Jun 14, 2021 |
| Abnormality of mouth size | 1 | Sep 23, 2022 |
| Absent speech | 2 | Sep 27, 2022 |
| Achondroplasia | 1 | Feb 24, 2023 |
| Achromatopsia 2 | 3 | Oct 23, 2025 |
| Acne inversa, familial, 1 | 1 | Feb 6, 2018 |
| Acromelic frontonasal dysostosis | 1 | Feb 6, 2018 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 | Apr 17, 2024 |
| Acute intermittent porphyria | 1 | Nov 26, 2018 |
| Adams-Oliver syndrome 2 | 1 | Oct 21, 2020 |
| Adams-Oliver syndrome 4 | 1 | Feb 27, 2022 |
| Adult hypophosphatasia | 1 | Apr 17, 2024 |
| Aggressive behavior | 3 | Aug 27, 2019 |
| Agnathia-otocephaly complex | 1 | Oct 20, 2020 |
| Aicardi-Goutieres syndrome 1 | 1 | Feb 6, 2018 |
| Aicardi-Goutieres syndrome 2 | 1 | Apr 26, 2017 |
| Al Kaissi syndrome | 2 | Jun 14, 2021 |
| Al-Raqad syndrome | 1 | Apr 17, 2024 |
| Aland island eye disease | 1 | Jun 14, 2021 |
| Allan-Herndon-Dudley syndrome | 2 | Feb 6, 2018 |
| Alopecia-intellectual disability syndrome 4 | 4 | Sep 30, 2022 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 2 | Nov 26, 2018 |
| Alstrom syndrome | 4 | Feb 6, 2018 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Oct 29, 2021 |
| Aminoglycoside-induced deafness | 2 | May 15, 2019 |
| Andersen Tawil syndrome | 1 | Apr 23, 2024 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | Feb 27, 2022 |
| Angelman syndrome | 2 | Feb 6, 2018 |
| Angioosteohypertrophic syndrome | 1 | Jun 14, 2021 |
| Aniridia 1 | 1 | Apr 16, 2025 |
| Anxiety | 1 | Apr 23, 2024 |
| Aortic aneurysm | 1 | Jun 14, 2021 |
| Aortic aneurysm, familial thoracic 7 | 2 | Apr 26, 2023 |
| Aortic valve disease 1 | 1 | Apr 17, 2025 |
| Aplasia/Hypoplasia of the corpus callosum | 1 | Jan 9, 2019 |
| Arrhythmogenic right ventricular dysplasia 10 | 4 | Apr 17, 2025 |
| Arrhythmogenic right ventricular dysplasia 2 | 2 | Oct 20, 2020 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Nov 26, 2018 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Oct 17, 2019 |
| Arterial tortuosity syndrome | 1 | Oct 20, 2020 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 2 | Feb 24, 2023 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Apr 26, 2023 |
| Asphyxiating thoracic dystrophy 3 | 4 | Apr 17, 2024 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Apr 26, 2017 |
| Atrial conduction disease | 1 | Apr 26, 2017 |
| Attention deficit hyperactivity disorder | 7 | Aug 10, 2022 |
| Atypical behavior | 10 | Feb 4, 2021 |
| Au-Kline syndrome | 1 | Feb 15, 2019 |
| Autism spectrum disorder due to AUTS2 deficiency | 3 | Apr 26, 2023 |
| Autism, susceptibility to, X-linked 1 | 1 | Mar 8, 2023 |
| Autistic behavior | 38 | Aug 10, 2022 |
| Autosomal dominant Alport syndrome | 1 | Oct 20, 2020 |
| Autosomal dominant Opitz G/BBB syndrome | 2 | Oct 17, 2019 |
| Autosomal dominant hypocalcemia 1 | 1 | Apr 23, 2024 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Feb 6, 2018 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Jun 14, 2021 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Apr 17, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Oct 29, 2021 |
| Autosomal recessive Alport syndrome | 1 | Oct 23, 2025 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 4 | Apr 26, 2017 |
| Autosomal recessive congenital ichthyosis 1 | 2 | Feb 27, 2022 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Feb 6, 2018 |
| Autosomal recessive congenital ichthyosis 5 | 2 | Apr 11, 2023 |
| Autosomal recessive congenital ichthyosis 6 | 1 | Apr 23, 2024 |
| Autosomal recessive cutis laxa type 2B | 3 | Apr 17, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Feb 6, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 2 | Sep 30, 2022 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | Apr 26, 2023 |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Apr 17, 2025 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Oct 29, 2021 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Feb 6, 2018 |
| Autosomal recessive nonsyndromic hearing loss 4 | 4 | Apr 17, 2025 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Apr 17, 2025 |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 | Apr 17, 2024 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Oct 23, 2025 |
| Autosomal recessive polycystic kidney disease | 4 | Feb 6, 2018 |
| Autosomal recessive spinocerebellar ataxia 10 | 2 | Dec 26, 2021 |
| Autosomal recessive spinocerebellar ataxia 12 | 2 | Oct 28, 2022 |
| Axenfeld-Rieger syndrome type 3 | 1 | Feb 15, 2019 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | Oct 29, 2021 |
| Baraitser-Winter syndrome 1 | 5 | Apr 17, 2024 |
| Bartter disease type 5 | 1 | Apr 16, 2025 |
| Beck-Fahrner syndrome | 3 | Feb 22, 2023 |
| Benign familial hematuria | 1 | Oct 29, 2021 |
| Bethlem myopathy 1A | 1 | Feb 6, 2018 |
| Birt-Hogg-Dube syndrome | 2 | Nov 26, 2018 |
| Blepharophimosis - intellectual disability syndrome | 1 | Oct 20, 2020 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 4 | Apr 16, 2025 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2 | Apr 23, 2024 |
| Blue sclerae | 1 | Sep 23, 2022 |
| Bohring-Opitz syndrome | 6 | Apr 17, 2024 |
| Bone marrow failure syndrome 3 | 1 | Apr 16, 2025 |
| Borjeson-Forssman-Lehmann syndrome | 3 | Apr 17, 2024 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 6 | Oct 29, 2021 |
| Brain malformations with or without urinary tract defects | 1 | Feb 24, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 3 | Apr 17, 2024 |
| Brain-lung-thyroid syndrome | 1 | Apr 17, 2024 |
| Branchiooculofacial syndrome | 1 | Feb 6, 2018 |
| Branchiootorenal syndrome 1 | 1 | Feb 24, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Oct 17, 2019 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 8 | Oct 17, 2019 |
| Brugada syndrome 2 | 1 | Nov 26, 2018 |
| Brugada syndrome 7 | 1 | Nov 26, 2018 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 1 | Apr 16, 2025 |
| CEBALID syndrome | 12 | Feb 22, 2023 |
| CHARGE syndrome | 3 | Apr 26, 2023 |
| CLOVES syndrome | 8 | Jun 14, 2021 |
| CODAS syndrome | 2 | Oct 17, 2019 |
| COG7 congenital disorder of glycosylation | 1 | Oct 17, 2019 |
| Camptomelic dysplasia | 2 | Apr 17, 2025 |
| Capillary malformation | 2 | Jun 14, 2021 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Oct 29, 2021 |
| Capillary malformation-arteriovenous malformation 2 | 1 | Apr 26, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 7 | Apr 26, 2023 |
| Cardiac valvular dysplasia, X-linked | 1 | Feb 15, 2019 |
| Cardiac-urogenital syndrome | 1 | Feb 27, 2022 |
| Cardiofaciocutaneous syndrome 1 | 3 | Apr 23, 2024 |
| Cardiofaciocutaneous syndrome 3 | 1 | Oct 17, 2019 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Apr 17, 2024 |
| Cataract 9 multiple types | 1 | Oct 21, 2020 |
| Catel-Manzke syndrome | 1 | Oct 20, 2020 |
| Cerebellar ataxia | 1 | Jun 14, 2021 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 3 | Apr 16, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Jun 14, 2021 |
| Cerebral cavernous malformation | 1 | Apr 23, 2024 |
| Cerebral cavernous malformation 3 | 1 | Oct 29, 2021 |
| Cerebrooculofacioskeletal syndrome 2 | 2 | Feb 6, 2018 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Apr 17, 2025 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Apr 23, 2024 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Apr 26, 2017 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Oct 29, 2021 |
| Charcot-Marie-Tooth disease type 1F | 1 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease type 2E | 1 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease type 4C | 4 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 1 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease, type IA | 1 | Apr 26, 2023 |
| Charlevoix-Saguenay spastic ataxia | 2 | Feb 6, 2018 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 3 | Feb 22, 2023 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 1 | Feb 22, 2023 |
| Chorea-acanthocytosis | 1 | Apr 23, 2024 |
| Chromosome 1p32-p31 deletion syndrome | 1 | Oct 29, 2021 |
| Chromosome 2q32-q33 deletion syndrome | 3 | Oct 29, 2021 |
| Chronic diarrhea | 1 | Jun 14, 2021 |
| Clark-Baraitser syndrome | 1 | Apr 23, 2024 |
| Cleft palate | 1 | Jun 14, 2021 |
| Coffin-Lowry syndrome | 1 | Feb 6, 2018 |
| Coffin-Siris syndrome 1 | 4 | Oct 17, 2019 |
| Coffin-Siris syndrome 10 | 1 | Feb 22, 2023 |
| Coffin-Siris syndrome 12 | 1 | Oct 29, 2021 |
| Coffin-Siris syndrome 5 | 1 | Feb 6, 2018 |
| Coffin-Siris syndrome 6 | 1 | Apr 17, 2024 |
| Coffin-Siris syndrome 8 | 2 | Apr 26, 2023 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 3 | Apr 26, 2023 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Apr 17, 2024 |
| Cohen syndrome | 14 | Sep 30, 2022 |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 1 | Nov 26, 2018 |
| Complex cortical dysplasia with other brain malformations 1 | 3 | Mar 5, 2022 |
| Complex cortical dysplasia with other brain malformations 5 | 2 | Apr 17, 2025 |
| Complex cortical dysplasia with other brain malformations 6 | 4 | Oct 23, 2025 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 3 | Apr 17, 2024 |
| Congenital anomaly of face | 1 | Apr 8, 2015 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 2 | Apr 26, 2017 |
| Congenital cleft nose | 1 | Apr 26, 2021 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 28 | Jan 9, 2026 |
| Congenital disorder of deglycosylation | 2 | Apr 26, 2017 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 1 | Oct 20, 2020 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 4 | Oct 29, 2021 |
| Congenital heart defects, multiple types, 7 | 1 | Apr 23, 2024 |
| Congenital hypothalamic hamartoma syndrome | 2 | Feb 24, 2023 |
| Congenital ichthyosiform erythroderma | 2 | Jun 14, 2021 |
| Congenital lactase deficiency | 2 | Apr 11, 2023 |
| Congenital macrodactylia | 1 | Jun 14, 2021 |
| Congenital myasthenic syndrome 11 | 2 | Apr 26, 2023 |
| Congenital myasthenic syndrome 20 | 1 | Feb 6, 2018 |
| Congenital myotonia, autosomal recessive form | 1 | Apr 23, 2024 |
| Congenital ocular coloboma | 1 | Apr 8, 2015 |
| Congenital stationary night blindness 1B | 1 | Apr 16, 2025 |
| Congenital stationary night blindness 1C | 1 | Apr 26, 2023 |
| Cornelia de Lange syndrome 1 | 6 | Apr 23, 2024 |
| Cornelia de Lange syndrome 3 | 1 | Oct 17, 2019 |
| Cornelia de Lange syndrome 4 | 1 | Feb 6, 2018 |
| Cornelia de Lange syndrome 5 | 1 | Feb 6, 2018 |
| Corpus callosum, agenesis of | 1 | Jun 14, 2021 |
| Cortical dysplasia | 1 | Jan 9, 2019 |
| Costello syndrome | 2 | Feb 24, 2023 |
| Cowden syndrome 1 | 1 | Sep 30, 2022 |
| Coxopodopatellar syndrome | 1 | Oct 20, 2020 |
| Cranioectodermal dysplasia 1 | 1 | Oct 21, 2020 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 | Feb 6, 2018 |
| Craniofrontonasal syndrome | 1 | Feb 6, 2018 |
| Craniosynostosis syndrome | 1 | Jun 14, 2021 |
| Creatine transporter deficiency | 3 | Oct 29, 2021 |
| Cutis laxa, autosomal recessive, type 1B | 1 | Feb 24, 2023 |
| Cystic fibrosis | 5 | Oct 17, 2019 |
| DYRK1A-related intellectual disability syndrome | 6 | Oct 29, 2021 |
| Deafness, X-linked 5 | 1 | Apr 26, 2023 |
| Deficiency of alpha-mannosidase | 4 | Feb 6, 2018 |
| Delayed fine motor development | 5 | Aug 27, 2019 |
| Delayed speech and language development | 12 | Sep 23, 2022 |
| Demyelinating peripheral neuropathy | 1 | Jun 14, 2021 |
| Developmental and epileptic encephalopathy 116 | 1 | Apr 17, 2025 |
| Developmental and epileptic encephalopathy 94 | 1 | Oct 21, 2020 |
| Developmental and epileptic encephalopathy 97 | 1 | Apr 17, 2025 |
| Developmental and epileptic encephalopathy 99 | 1 | Apr 17, 2024 |
| Developmental and epileptic encephalopathy, 11 | 6 | Oct 29, 2021 |
| Developmental and epileptic encephalopathy, 14 | 2 | Oct 29, 2021 |
| Developmental and epileptic encephalopathy, 17 | 3 | Apr 26, 2023 |
| Developmental and epileptic encephalopathy, 19 | 1 | Apr 26, 2017 |
| Developmental and epileptic encephalopathy, 2 | 1 | Apr 6, 2020 |
| Developmental and epileptic encephalopathy, 24 | 1 | Oct 26, 2017 |
| Developmental and epileptic encephalopathy, 25 | 3 | Apr 26, 2017 |
| Developmental and epileptic encephalopathy, 26 | 4 | Apr 17, 2024 |
| Developmental and epileptic encephalopathy, 27 | 2 | Feb 24, 2023 |
| Developmental and epileptic encephalopathy, 31A | 1 | Oct 17, 2019 |
| Developmental and epileptic encephalopathy, 32 | 1 | Apr 26, 2017 |
| Developmental and epileptic encephalopathy, 33 | 2 | Dec 26, 2021 |
| Developmental and epileptic encephalopathy, 4 | 1 | Oct 26, 2017 |
| Developmental and epileptic encephalopathy, 42 | 2 | Apr 17, 2024 |
| Developmental and epileptic encephalopathy, 43 | 1 | Feb 27, 2022 |
| Developmental and epileptic encephalopathy, 5 | 1 | Sep 23, 2022 |
| Developmental and epileptic encephalopathy, 54 | 1 | Feb 6, 2018 |
| Developmental and epileptic encephalopathy, 65 | 2 | Oct 17, 2019 |
| Developmental and epileptic encephalopathy, 66 | 1 | Feb 27, 2022 |
| Developmental and epileptic encephalopathy, 7 | 3 | Oct 20, 2020 |
| Developmental and epileptic encephalopathy, 71 | 1 | Apr 26, 2023 |
| Developmental and epileptic encephalopathy, 77 | 1 | Oct 29, 2021 |
| Developmental and epileptic encephalopathy, 8 | 2 | Jul 3, 2017 |
| Developmental and epileptic encephalopathy, 9 | 2 | Apr 17, 2025 |
| Developmental delay | 1 | Oct 20, 2020 |
| Developmental delay with dysmorphic facies and dental anomalies | 1 | Feb 19, 2022 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Dec 26, 2021 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 3 | Apr 23, 2024 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 | Feb 6, 2018 |
| Developmental delay with variable intellectual disability and dysmorphic facies | 2 | Apr 17, 2025 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Oct 21, 2020 |
| Developmental delay with variable neurologic and brain abnormalities | 1 | Feb 22, 2023 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Apr 17, 2024 |
| Dias-Logan syndrome | 3 | Feb 15, 2019 |
| Dilated cardiomyopathy 1A | 2 | Nov 26, 2018 |
| Dilated cardiomyopathy 1D | 2 | Nov 26, 2018 |
| Dilated cardiomyopathy 1DD | 1 | Oct 21, 2020 |
| Dilated cardiomyopathy 1I | 1 | Nov 26, 2018 |
| Dilated cardiomyopathy 1L | 2 | Nov 26, 2018 |
| Distal arthrogryposis | 1 | Apr 26, 2017 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Apr 26, 2017 |
| Dyggve-Melchior-Clausen syndrome | 1 | Feb 15, 2019 |
| Dysmorphic features | 1 | Oct 20, 2020 |
| Dystonia 5 | 1 | Nov 26, 2018 |
| EEG abnormality | 1 | Jan 9, 2019 |
| Early-onset generalized limb-onset dystonia | 1 | Feb 6, 2018 |
| Early-onset myopathy with fatal cardiomyopathy | 6 | Feb 27, 2022 |
| Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | 2 | Jun 14, 2021 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Dec 26, 2021 |
| Ehlers-Danlos syndrome, type 4 | 1 | Feb 15, 2019 |
| Ellis-van Creveld syndrome | 1 | Apr 17, 2024 |
| Encephalocraniocutaneous lipomatosis | 1 | Jun 14, 2021 |
| Encephalopathy | 6 | Jun 14, 2021 |
| Encephalopathy due to GLUT1 deficiency | 1 | Apr 26, 2017 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Apr 26, 2017 |
| Epicanthus | 1 | Sep 23, 2022 |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 2 | Apr 11, 2023 |
| Epilepsy with myoclonic atonic seizures | 2 | Apr 26, 2017 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 3 | Oct 17, 2019 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Feb 22, 2023 |
| Epilepsy, familial focal, with variable foci 1 | 3 | Oct 23, 2025 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Oct 29, 2021 |
| Epileptic encephalopathy | 6 | Jun 14, 2021 |
| Epileptic spasm | 2 | Jun 14, 2021 |
| Episodic kinesigenic dyskinesia 1 | 1 | Jun 14, 2021 |
| Exercise-induced hyperinsulinism | 1 | Oct 17, 2019 |
| Exudative vitreoretinopathy 4 | 2 | Apr 11, 2023 |
| FG syndrome 1 | 1 | Apr 26, 2017 |
| FG syndrome 4 | 1 | Sep 23, 2022 |
| FOXG1 disorder | 4 | Apr 17, 2024 |
| FRAXE | 1 | Apr 23, 2024 |
| Facial asymmetry | 1 | Apr 26, 2021 |
| Familial adenomatous polyposis 1 | 1 | Nov 26, 2018 |
| Familial cancer of breast | 3 | Apr 23, 2024 |
| Familial isolated deficiency of vitamin E | 1 | Apr 26, 2017 |
| Familial multiple nevi flammei | 2 | Jun 14, 2021 |
| Fanconi anemia complementation group A | 1 | Apr 23, 2024 |
| Fetal akinesia deformation sequence 1 | 2 | Feb 6, 2018 |
| Fetal cystic hygroma | 3 | Jun 14, 2021 |
| Fetal growth restriction | 1 | Sep 23, 2022 |
| Fibromuscular dysplasia, multifocal | 1 | Oct 23, 2025 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Apr 26, 2017 |
| Finnish congenital nephrotic syndrome | 1 | Feb 6, 2018 |
| Floating-Harbor syndrome | 1 | Feb 6, 2018 |
| Focal cortical dysplasia | 1 | Aug 27, 2019 |
| Focal segmental glomerulosclerosis 5 | 1 | Oct 17, 2019 |
| Focal segmental glomerulosclerosis 7 | 1 | Apr 16, 2025 |
| Frontorhiny | 1 | Feb 6, 2018 |
| Frontotemporal dementia | 1 | Oct 21, 2020 |
| GM3 synthase deficiency | 1 | Apr 26, 2017 |
| Gait ataxia | 2 | Aug 27, 2019 |
| Gait disturbance | 2 | Aug 27, 2019 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Oct 29, 2021 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Feb 6, 2018 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | Oct 29, 2021 |
| Generalized hypotonia | 3 | Jun 14, 2021 |
| Genitopatellar syndrome | 1 | Feb 24, 2023 |
| Global developmental delay | 35 | Sep 23, 2022 |
| Global developmental delay with or without impaired intellectual development | 1 | Feb 24, 2023 |
| Global developmental delay with speech and behavioral abnormalities | 2 | Apr 17, 2025 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 2 | Feb 24, 2023 |
| Glomuvenous malformation | 1 | Feb 6, 2018 |
| Glycogen storage disease IXa1 | 2 | Apr 26, 2023 |
| Glycogen storage disease, type II | 1 | Apr 26, 2023 |
| Glycogen storage disease, type VI | 1 | Oct 17, 2019 |
| Gordon syndrome | 1 | Apr 26, 2023 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Feb 24, 2023 |
| HSD10 mitochondrial disease | 1 | Oct 29, 2021 |
| HYAL2 deficiency | 2 | Apr 17, 2025 |
| Hamartoma | 1 | Jun 14, 2021 |
| Hearing impairment | 5 | Jun 14, 2021 |
| Hearing loss | 1 | Aug 17, 2020 |
| Hearing loss, autosomal recessive 116 | 1 | Oct 29, 2021 |
| Hemangiomatosis | 1 | Jun 14, 2021 |
| Hemihypertrophy | 2 | Jun 14, 2021 |
| Hemiplegia/hemiparesis | 1 | Jun 14, 2021 |
| Hemochromatosis type 1 | 1 | Oct 17, 2019 |
| Hereditary cryohydrocytosis with reduced stomatin | 1 | Feb 15, 2019 |
| Hereditary factor XI deficiency disease | 1 | Oct 17, 2019 |
| Hereditary lymphedema type I | 1 | Feb 24, 2023 |
| Hereditary spastic paraplegia 11 | 2 | Jul 3, 2017 |
| Hereditary spastic paraplegia 17 | 1 | Oct 29, 2021 |
| Hereditary spastic paraplegia 30 | 1 | Apr 26, 2023 |
| Hereditary spastic paraplegia 31 | 2 | Apr 16, 2025 |
| Hereditary spastic paraplegia 3A | 2 | Oct 23, 2025 |
| Hereditary spastic paraplegia 4 | 2 | Oct 29, 2021 |
| Hereditary spastic paraplegia 52 | 1 | Oct 29, 2021 |
| Hereditary spastic paraplegia 7 | 2 | Apr 23, 2024 |
| Hereditary spastic paraplegia 8 | 1 | Feb 15, 2019 |
| Hereditary spherocytosis type 1 | 1 | Oct 23, 2025 |
| Hermansky-Pudlak syndrome 3 | 1 | Apr 26, 2017 |
| Heterotaxy, visceral, 8, autosomal | 1 | Apr 17, 2024 |
| Heterotopia, periventricular, X-linked dominant | 1 | Apr 26, 2023 |
| High, narrow palate | 1 | Sep 23, 2022 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Feb 15, 2019 |
| Hogue-Janssens syndrome 1 | 2 | Oct 21, 2020 |
| Houge-Janssens syndrome 2 | 1 | Apr 26, 2017 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Nov 26, 2018 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 2 | Oct 17, 2019 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 3 | Oct 20, 2020 |
| Hypertelorism | 1 | Apr 26, 2021 |
| Hypertrichotic osteochondrodysplasia Cantu type | 2 | Jul 3, 2017 |
| Hypertrophic cardiomyopathy 1 | 2 | Oct 20, 2020 |
| Hypertrophic cardiomyopathy 10 | 2 | Nov 26, 2018 |
| Hypertrophic cardiomyopathy 4 | 1 | Apr 17, 2025 |
| Hypertrophic cardiomyopathy 8 | 1 | Nov 26, 2018 |
| Hypodontia | 1 | Jun 14, 2021 |
| Hypogonadism with anosmia | 1 | Jun 14, 2021 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Apr 23, 2024 |
| Hypokalemic periodic paralysis, type 1 | 1 | Nov 26, 2018 |
| Hypoplasia of scrotum | 1 | Apr 26, 2017 |
| Hypoplasia of the frontal lobes | 1 | Aug 27, 2019 |
| Hypoplastic anterior commissure | 1 | Jan 9, 2019 |
| Hypoplastic hippocampus | 1 | Jan 9, 2019 |
| Hypotonia | 2 | Jun 14, 2021 |
| Hypotonia with lactic acidemia and hyperammonemia | 2 | Feb 24, 2023 |
| Hypotonia, ataxia, and delayed development syndrome | 2 | Oct 29, 2021 |
| Ichthyosis vulgaris | 1 | Apr 16, 2025 |
| Imagawa-Matsumoto syndrome | 2 | Feb 22, 2023 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Jul 3, 2017 |
| Increased nuchal translucency | 1 | Jun 14, 2021 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Feb 22, 2023 |
| Infantile-onset ascending hereditary spastic paralysis | 1 | Apr 23, 2024 |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 2 | Sep 30, 2022 |
| Inflexible adherence to routines | 1 | Jan 9, 2019 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | Feb 15, 2019 |
| Intellectual developmental disorder 61 | 2 | Oct 23, 2025 |
| Intellectual developmental disorder 62 | 2 | Apr 17, 2025 |
| Intellectual developmental disorder with autism and macrocephaly | 2 | Oct 17, 2019 |
| Intellectual developmental disorder with autism and speech delay | 1 | Oct 29, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Apr 16, 2025 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Feb 6, 2018 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 | Feb 6, 2018 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 3 | Feb 24, 2023 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Oct 20, 2020 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 1 | Oct 29, 2021 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 2 | Apr 23, 2024 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 2 | Apr 26, 2023 |
| Intellectual developmental disorder, autosomal dominant 64 | 7 | Apr 23, 2024 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Oct 29, 2021 |
| Intellectual disability | 74 | Apr 23, 2024 |
| Intellectual disability, X-linked 1 | 1 | Jul 3, 2017 |
| Intellectual disability, X-linked 102 | 7 | Oct 29, 2021 |
| Intellectual disability, X-linked 19 | 1 | Nov 26, 2018 |
| Intellectual disability, X-linked 21 | 1 | Apr 23, 2024 |
| Intellectual disability, X-linked 30 | 1 | Jun 14, 2021 |
| Intellectual disability, X-linked 49 | 1 | Oct 21, 2022 |
| Intellectual disability, X-linked 50 | 1 | Apr 23, 2024 |
| Intellectual disability, X-linked 58 | 1 | Nov 26, 2018 |
| Intellectual disability, X-linked 90 | 31 | Feb 10, 2025 |
| Intellectual disability, X-linked 93 | 1 | Apr 17, 2025 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Apr 26, 2023 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Oct 17, 2019 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Jul 3, 2017 |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 1 | Nov 26, 2018 |
| Intellectual disability, autosomal dominant 13 | 4 | Apr 26, 2023 |
| Intellectual disability, autosomal dominant 14 | 5 | Apr 23, 2024 |
| Intellectual disability, autosomal dominant 15 | 1 | Feb 6, 2018 |
| Intellectual disability, autosomal dominant 16 | 1 | Apr 26, 2017 |
| Intellectual disability, autosomal dominant 22 | 2 | Feb 15, 2019 |
| Intellectual disability, autosomal dominant 24 | 1 | Apr 17, 2024 |
| Intellectual disability, autosomal dominant 29 | 1 | Oct 29, 2021 |
| Intellectual disability, autosomal dominant 39 | 1 | Feb 15, 2019 |
| Intellectual disability, autosomal dominant 40 | 1 | Oct 17, 2019 |
| Intellectual disability, autosomal dominant 41 | 2 | Jul 3, 2017 |
| Intellectual disability, autosomal dominant 43 | 1 | Feb 6, 2018 |
| Intellectual disability, autosomal dominant 46 | 1 | Apr 23, 2024 |
| Intellectual disability, autosomal dominant 5 | 5 | Apr 17, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Oct 23, 2025 |
| Intellectual disability, autosomal dominant 51 | 1 | Feb 15, 2019 |
| Intellectual disability, autosomal dominant 53 | 1 | Feb 15, 2019 |
| Intellectual disability, autosomal dominant 57 | 1 | Oct 17, 2019 |
| Intellectual disability, autosomal dominant 58 | 1 | Apr 26, 2023 |
| Intellectual disability, autosomal dominant 6 | 4 | Feb 24, 2023 |
| Intellectual disability, autosomal dominant 9 | 3 | Apr 26, 2023 |
| Intellectual disability, autosomal recessive 13 | 1 | Apr 26, 2017 |
| Intellectual disability, autosomal recessive 18 | 1 | Feb 6, 2018 |
| Intellectual disability, autosomal recessive 27 | 2 | Feb 24, 2023 |
| Intellectual disability, autosomal recessive 43 | 2 | Jun 3, 2019 |
| Intellectual disability, autosomal recessive 46 | 1 | Apr 23, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 4 | Apr 26, 2023 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 7 | Oct 29, 2021 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Feb 6, 2018 |
| Interstitial pneumonitis | 2 | Jun 14, 2021 |
| Joubert syndrome 21 | 1 | Feb 24, 2023 |
| Juvenile retinoschisis | 2 | Apr 16, 2025 |
| KBG syndrome | 16 | Apr 23, 2024 |
| Kabuki syndrome 1 | 6 | Apr 23, 2024 |
| Kabuki syndrome 2 | 1 | Feb 6, 2018 |
| Kidney damage | 1 | Jun 14, 2021 |
| Kindler syndrome | 1 | Feb 16, 2022 |
| Kleefstra syndrome 1 | 6 | Apr 17, 2024 |
| Klippel-Feil syndrome 1, autosomal dominant | 1 | Oct 21, 2022 |
| Kohlschutter-Tonz syndrome-like | 1 | Feb 27, 2022 |
| Koolen-de Vries syndrome | 2 | Jul 3, 2017 |
| LEOPARD syndrome 1 | 4 | Apr 26, 2023 |
| Lamb-Shaffer syndrome | 3 | Oct 29, 2021 |
| Landau-Kleffner syndrome | 1 | Apr 17, 2025 |
| Language disorder | 1 | Apr 6, 2020 |
| Large hands | 1 | Apr 8, 2015 |
| Larsen syndrome | 1 | Apr 16, 2025 |
| Learning disability | 1 | Apr 8, 2015 |
| Leber optic atrophy | 3 | May 15, 2019 |
| Left ventricular noncompaction 10 | 5 | Oct 17, 2019 |
| Leigh syndrome | 1 | Apr 16, 2025 |
| Lethal congenital contracture syndrome 11 | 1 | Apr 17, 2024 |
| Levy-Hollister syndrome | 1 | Apr 26, 2017 |
| Leydig cell agenesis | 2 | Oct 17, 2019 |
| Li-Fraumeni syndrome 1 | 1 | Feb 6, 2018 |
| Limb myoclonus | 1 | Aug 27, 2019 |
| Limbal dermoid | 1 | Apr 26, 2021 |
| Linear nevus sebaceous syndrome | 1 | Jun 14, 2021 |
| Lissencephaly due to TUBA1A mutation | 1 | Apr 23, 2024 |
| Long QT syndrome 1 | 4 | Feb 15, 2019 |
| Long QT syndrome 12 | 1 | Nov 26, 2018 |
| Long QT syndrome 3 | 6 | Nov 26, 2018 |
| Long QT syndrome 6 | 1 | Nov 26, 2018 |
| Long QT syndrome 9 | 1 | Nov 26, 2018 |
| Low-set ears | 1 | Apr 26, 2021 |
| Lowe syndrome | 2 | Feb 15, 2019 |
| Lymphatic malformation 7 | 1 | Apr 17, 2025 |
| Lynch syndrome 4 | 1 | Feb 6, 2018 |
| Lynch syndrome 5 | 1 | Apr 23, 2024 |
| MEHMO syndrome | 1 | Sep 24, 2019 |
| MIRAGE syndrome | 1 | Feb 6, 2018 |
| Macrocephaly | 4 | Jun 14, 2021 |
| Macrocephaly-autism syndrome | 1 | Mar 4, 2022 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Feb 24, 2023 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Feb 15, 2019 |
| Malan overgrowth syndrome | 2 | Apr 6, 2020 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Apr 16, 2025 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Oct 29, 2021 |
| Marfan syndrome | 8 | Apr 17, 2025 |
| Marfanoid habitus and intellectual disability | 77 | May 15, 2019 |
| Marshall-Smith syndrome | 1 | Feb 6, 2018 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Apr 17, 2024 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 3 | Apr 17, 2025 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Jan 10, 2021 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Jan 10, 2021 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Feb 15, 2019 |
| Menke-Hennekam syndrome 1 | 1 | Oct 17, 2019 |
| Metachromatic leukodystrophy | 2 | Oct 29, 2021 |
| Methylmalonic aciduria and homocystinuria type cblD | 2 | Feb 24, 2023 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 | Oct 17, 2019 |
| Microcephalic primordial dwarfism, Alazami type | 5 | Oct 29, 2021 |
| Microcephaly | 6 | Jun 14, 2021 |
| Microcephaly 18, primary, autosomal dominant | 2 | Feb 22, 2023 |
| Microcephaly 26, primary, autosomal dominant | 1 | Feb 22, 2023 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Oct 21, 2020 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Feb 15, 2019 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 1 | Apr 26, 2017 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Feb 15, 2019 |
| Microphthalmia, isolated, with coloboma 5 | 1 | Apr 26, 2017 |
| Microphthalmia, syndromic 12 | 1 | Feb 6, 2018 |
| Midline facial cleft | 1 | Apr 26, 2021 |
| Migraine, familial hemiplegic, 1 | 2 | Apr 26, 2023 |
| Migraine, familial hemiplegic, 2 | 1 | Oct 23, 2025 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | Apr 26, 2023 |
| Mitochondrial complex III deficiency nuclear type 5 | 1 | Feb 15, 2019 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Feb 27, 2022 |
| Moderate global developmental delay | 15 | Aug 27, 2019 |
| Motor delay | 3 | Sep 27, 2022 |
| Mowat-Wilson syndrome | 1 | Oct 26, 2017 |
| Moyamoya disease 2 | 1 | Apr 26, 2023 |
| Mucolipidosis type II | 2 | Apr 16, 2025 |
| Mucopolysaccharidosis type 7 | 2 | Feb 24, 2023 |
| Mucopolysaccharidosis, MPS-II | 1 | Nov 26, 2018 |
| Mulibrey nanism syndrome | 1 | Apr 26, 2017 |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 2 | Apr 11, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 | Feb 27, 2022 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Feb 27, 2022 |
| Multiple endocrine neoplasia type 2B | 4 | Nov 26, 2018 |
| Multiple epiphyseal dysplasia type 4 | 1 | Feb 24, 2023 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Oct 27, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 | Apr 17, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Jul 3, 2017 |
| Myhre syndrome | 1 | Feb 6, 2018 |
| Myopathy | 1 | Jun 14, 2021 |
| Nail-patella syndrome | 1 | Apr 26, 2017 |
| Nance-Horan syndrome | 2 | Feb 24, 2023 |
| Nemaline myopathy 2 | 2 | Feb 27, 2022 |
| Neonatal hypotonia | 2 | Jun 14, 2021 |
| Neonatal respiratory distress | 3 | Jun 14, 2021 |
| Neonatal-onset encephalopathy with rigidity and seizures | 4 | Feb 15, 2019 |
| Nephronophthisis 12 | 1 | Apr 26, 2017 |
| Neural tube defect | 1 | Jun 14, 2021 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Feb 15, 2019 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Feb 15, 2019 |
| Neurodevelopmental abnormality | 4 | Oct 29, 2021 |
| Neurodevelopmental delay | 15 | Feb 15, 2023 |
| Neurodevelopmental delay with neutropenia | 1 | Apr 16, 2025 |
| Neurodevelopmental disorder | 14 | Sep 25, 2024 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 1 | Feb 22, 2023 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 1 | Feb 22, 2023 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 11 | Oct 28, 2022 |
| Neurodevelopmental disorder with hypotonia and dysmorphic facies | 2 | Feb 24, 2023 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2 | Apr 26, 2023 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 1 | Apr 16, 2025 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Feb 15, 2019 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 3 | Apr 17, 2025 |
| Neurodevelopmental disorder with involuntary movements | 1 | Apr 26, 2023 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 2 | Apr 23, 2024 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 3 | Apr 17, 2024 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 1 | Aug 19, 2021 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Feb 15, 2019 |
| Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction | 1 | Apr 23, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 3 | Feb 24, 2023 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Apr 23, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 3 | Feb 22, 2023 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 2 | Feb 22, 2023 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 1 | Feb 22, 2023 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 | Feb 22, 2023 |
| Neurodevelopmental disorder with seizures and gingival overgrowth | 1 | Apr 17, 2024 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 1 | Oct 21, 2020 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 1 | Apr 17, 2024 |
| Neurofibromatosis, familial spinal | 1 | Apr 23, 2024 |
| Neurofibromatosis, type 1 | 3 | Apr 17, 2025 |
| Neuronal ceroid lipofuscinosis 1 | 3 | Apr 26, 2017 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Apr 26, 2017 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Jun 14, 2021 |
| Neuronopathy, distal hereditary motor, type 5A | 2 | Feb 15, 2019 |
| Neurooculocardiogenitourinary syndrome | 1 | Apr 17, 2024 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Oct 29, 2021 |
| Nevus sebaceous | 1 | Jun 14, 2021 |
| Nicolaides-Baraitser syndrome | 2 | Apr 17, 2025 |
| Noonan syndrome 1 | 8 | Apr 26, 2023 |
| Noonan syndrome 10 | 2 | Apr 16, 2025 |
| Noonan syndrome 2 | 1 | Feb 24, 2023 |
| Noonan syndrome 4 | 3 | Apr 23, 2024 |
| Noonan syndrome 6 | 1 | Feb 24, 2023 |
| Noonan syndrome 7 | 2 | Feb 24, 2023 |
| Noonan syndrome 8 | 1 | Apr 26, 2023 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Apr 26, 2017 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 | Oct 17, 2019 |
| O'Donnell-Luria-Rodan syndrome | 4 | Apr 17, 2024 |
| Obesity due to leptin receptor gene deficiency | 1 | Feb 15, 2019 |
| Obesity due to pro-opiomelanocortin deficiency | 2 | Feb 15, 2019 |
| Ocular albinism, type I | 1 | Oct 29, 2021 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Apr 26, 2017 |
| Oculocutaneous albinism type 1B | 2 | Apr 26, 2023 |
| Oculofaciocardiodental syndrome | 1 | Apr 17, 2025 |
| Oculopharyngeal muscular dystrophy 1 | 1 | Apr 17, 2024 |
| Ogden syndrome | 2 | Apr 17, 2025 |
| Okur-Chung neurodevelopmental syndrome | 3 | Apr 17, 2024 |
| Optic atrophy | 1 | Jun 14, 2021 |
| Ornithine carbamoyltransferase deficiency | 1 | Oct 17, 2019 |
| Orofaciodigital syndrome I | 8 | Oct 21, 2020 |
| Osteocraniostenosis | 1 | Apr 26, 2023 |
| Osteogenesis imperfecta | 1 | Jun 14, 2021 |
| Osteogenesis imperfecta type I | 4 | Oct 23, 2025 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Feb 24, 2023 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Apr 23, 2024 |
| Overgrowth | 1 | Apr 8, 2015 |
| PGM1-congenital disorder of glycosylation | 3 | Feb 24, 2023 |
| PHARC syndrome | 2 | Jul 3, 2017 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 3 | Apr 17, 2024 |
| PIK3CA related overgrowth syndrome | 3 | Jan 10, 2021 |
| PTBP1-related neurodevelopmental disorder with skeletal dysplasia | 10 | Oct 23, 2025 |
| PTBP2-related neurodevelopmental disease | 2 | Oct 23, 2025 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 7 | Sep 23, 2022 |
| Pallister-Killian syndrome | 1 | Mar 22, 2023 |
| Parkinson disease, late-onset | 3 | Apr 17, 2025 |
| Partial androgen insensitivity syndrome | 1 | Oct 23, 2025 |
| Pelizaeus-Merzbacher disease | 2 | Oct 26, 2017 |
| Pericallosal lipoma | 3 | Apr 26, 2021 |
| Persistent Mullerian duct syndrome | 2 | Sep 30, 2022 |
| Pes valgus | 1 | Sep 23, 2022 |
| Peters plus syndrome | 1 | Feb 6, 2018 |
| Pfeiffer syndrome | 1 | Feb 6, 2018 |
| Phelan-McDermid syndrome | 1 | Apr 17, 2024 |
| Phenylketonuria | 4 | Feb 15, 2019 |
| Phenytoin response | 2 | Oct 21, 2020 |
| Pheochromocytoma/paraganglioma syndrome 4 | 3 | Nov 26, 2018 |
| Pigmentary pallidal degeneration | 1 | Feb 15, 2019 |
| Pitt-Hopkins syndrome | 4 | Sep 23, 2022 |
| Poikiloderma with neutropenia | 1 | Feb 6, 2018 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | Feb 22, 2023 |
| Polycystic kidney disease 2 | 3 | Apr 16, 2025 |
| Polycystic kidney disease, adult type | 5 | Oct 23, 2025 |
| Polycystic liver disease 2 | 1 | Apr 17, 2024 |
| Polydactyly, postaxial, type a10 | 2 | Apr 26, 2023 |
| Pontocerebellar hypoplasia type 4 | 2 | Feb 24, 2023 |
| Pontocerebellar hypoplasia type 5 | 2 | Feb 24, 2023 |
| Pontocerebellar hypoplasia, type 1D | 1 | Feb 27, 2022 |
| Poor speech | 1 | Sep 27, 2022 |
| Porencephaly | 1 | Feb 24, 2023 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 1 | Oct 17, 2019 |
| Preauricular skin tag | 1 | Apr 26, 2021 |
| Primary ciliary dyskinesia | 1 | Jun 14, 2021 |
| Primary ciliary dyskinesia 3 | 1 | Apr 17, 2024 |
| Primary ciliary dyskinesia 7 | 6 | Apr 26, 2023 |
| Primrose syndrome | 7 | Jun 17, 2019 |
| Progressive cerebellar ataxia | 1 | May 15, 2019 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | Oct 29, 2024 |
| Progressive sclerosing poliodystrophy | 2 | Feb 27, 2022 |
| Prominent forehead | 1 | Sep 23, 2022 |
| Prostate cancer | 1 | Oct 17, 2019 |
| Proximal symphalangism 1A | 1 | Jun 14, 2021 |
| Prune belly syndrome | 1 | Apr 17, 2025 |
| Pyridoxine-dependent epilepsy | 1 | Oct 29, 2021 |
| Pyruvate dehydrogenase E1-alpha deficiency | 2 | Apr 23, 2024 |
| Rahman syndrome | 1 | Oct 17, 2019 |
| Renal coloboma syndrome | 1 | Apr 23, 2024 |
| Renal cortical hyperechogenicity | 1 | Jun 14, 2021 |
| Renal cyst | 5 | Jun 14, 2021 |
| Renal hypodysplasia/aplasia 3 | 2 | Feb 24, 2023 |
| Renal tubular dysgenesis | 1 | Feb 6, 2018 |
| Renal-hepatic-pancreatic dysplasia 2 | 2 | Apr 26, 2023 |
| Renpenning syndrome | 1 | Apr 23, 2024 |
| Retinitis pigmentosa 11 | 1 | Apr 26, 2023 |
| Retinitis pigmentosa 18 | 1 | Oct 21, 2020 |
| Retinitis pigmentosa 3 | 1 | Oct 17, 2019 |
| Retinitis pigmentosa 4 | 1 | Oct 17, 2019 |
| Retrognathia | 1 | Sep 23, 2022 |
| Rett syndrome | 7 | Apr 17, 2025 |
| Right atrial isomerism | 1 | Apr 17, 2025 |
| Rothmund-Thomson syndrome | 3 | Feb 6, 2018 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 7 | Feb 24, 2023 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 3 | Feb 15, 2019 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Oct 29, 2021 |
| SSR4-congenital disorder of glycosylation | 1 | Oct 29, 2021 |
| STAG1-related disorder | 10 | Apr 13, 2017 |
| Saethre-Chotzen syndrome | 1 | Oct 17, 2019 |
| Sandestig-stefanova syndrome | 2 | Feb 24, 2023 |
| Schinzel-Giedion syndrome | 1 | Mar 11, 2022 |
| Schneckenbecken dysplasia | 1 | Apr 17, 2024 |
| Schuurs-Hoeijmakers syndrome | 1 | Feb 15, 2019 |
| See cases | 28 | Apr 17, 2024 |
| Seizure | 14 | Aug 10, 2022 |
| Seizures, benign familial infantile, 2 | 3 | Apr 17, 2025 |
| Seizures, benign familial infantile, 3 | 1 | Feb 27, 2022 |
| Seizures, benign familial infantile, 5 | 1 | Feb 15, 2019 |
| Seizures, benign familial neonatal, 1 | 1 | Apr 17, 2025 |
| Severe X-linked myotubular myopathy | 1 | Feb 27, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Feb 24, 2023 |
| Severe early-childhood-onset retinal dystrophy | 2 | Apr 16, 2025 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | Apr 17, 2024 |
| Severe global developmental delay | 18 | Apr 6, 2020 |
| Severe intellectual disability | 2 | Sep 27, 2022 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 4 | Sep 23, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Apr 26, 2017 |
| Severe myoclonic epilepsy in infancy | 1 | Oct 17, 2019 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Jun 14, 2021 |
| Shashi-Pena syndrome | 2 | Feb 15, 2019 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | Apr 26, 2023 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Apr 23, 2024 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Apr 26, 2017 |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 | Apr 26, 2023 |
| Shprintzen-Goldberg syndrome | 2 | Feb 15, 2019 |
| Sick sinus syndrome 1 | 1 | Apr 26, 2017 |
| Simpson-Golabi-Behmel syndrome type 1 | 3 | Oct 27, 2022 |
| Skin tags | 3 | Apr 26, 2021 |
| Skraban-Deardorff syndrome | 2 | Apr 26, 2023 |
| Smith-Lemli-Opitz syndrome | 5 | Oct 29, 2021 |
| Snijders Blok-Campeau syndrome | 2 | Apr 23, 2024 |
| Sotos syndrome | 6 | Apr 26, 2023 |
| Spastic paraplegia 80, autosomal dominant | 1 | Oct 17, 2019 |
| Specific learning disability | 3 | Aug 10, 2022 |
| Spermatogenic failure 19 | 1 | Apr 16, 2025 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | Oct 29, 2021 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Apr 26, 2023 |
| Spinocerebellar ataxia type 15/16 | 2 | Apr 23, 2024 |
| Spinocerebellar ataxia type 19/22 | 1 | Oct 17, 2019 |
| Spinocerebellar ataxia type 28 | 1 | Oct 17, 2019 |
| Spinocerebellar ataxia type 34 | 1 | Oct 23, 2025 |
| Spinocerebellar ataxia type 5 | 2 | Oct 17, 2019 |
| Spondylocarpotarsal synostosis syndrome | 2 | Feb 6, 2018 |
| Spondylocostal dysostosis 1, autosomal recessive | 2 | Oct 23, 2025 |
| Spondylocostal dysostosis 3, autosomal recessive | 1 | Apr 23, 2024 |
| Spondylocostal dysostosis 4, autosomal recessive | 1 | Feb 6, 2018 |
| Spondyloenchondrodysplasia with immune dysregulation | 1 | Apr 23, 2024 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 | Oct 17, 2019 |
| Spondyloepiphyseal dysplasia tarda | 1 | Apr 26, 2017 |
| Spondyloepiphyseal dysplasia, Stanescu type | 1 | Apr 26, 2017 |
| Stickler syndrome type 1 | 2 | Apr 16, 2025 |
| Stickler syndrome type 2 | 1 | Apr 17, 2025 |
| Sudden infant death-dysgenesis of the testes syndrome | 2 | Dec 2, 2020 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 6 | Apr 17, 2024 |
| Syndromic X-linked intellectual disability Raymond type | 2 | Apr 26, 2023 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Apr 26, 2017 |
| Syndromic microphthalmia type 5 | 2 | Feb 15, 2019 |
| Synophrys | 1 | Sep 23, 2022 |
| TCF12-related craniosynostosis | 1 | Apr 17, 2024 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Feb 22, 2023 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 | Apr 26, 2017 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Feb 6, 2018 |
| Tay-Sachs disease | 1 | Feb 6, 2018 |
| Teebi hypertelorism syndrome | 1 | Oct 17, 2019 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Nov 26, 2018 |
| Temple-Baraitser syndrome | 1 | Feb 6, 2018 |
| Tessier cleft | 2 | Jun 14, 2021 |
| Tetralogy of Fallot | 1 | Apr 23, 2024 |
| Thanatophoric dysplasia type 1 | 1 | Apr 26, 2023 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 | Apr 23, 2024 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Nov 26, 2018 |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 | Apr 17, 2024 |
| Tietz syndrome | 1 | Jul 3, 2017 |
| Tooth agenesis, selective, 3 | 1 | Apr 26, 2017 |
| Trichothiodystrophy 4, nonphotosensitive | 2 | Oct 23, 2025 |
| Tuberous sclerosis 1 | 1 | Nov 26, 2018 |
| Tuberous sclerosis 2 | 2 | Apr 23, 2024 |
| Turnpenny-fry syndrome | 1 | Oct 17, 2019 |
| Ullrich congenital muscular dystrophy 1A | 1 | Apr 17, 2024 |
| Ulnar deviation of the wrist | 3 | Jul 18, 2017 |
| Ulnar-mammary syndrome | 2 | Apr 17, 2024 |
| Upper eyelid coloboma | 1 | Apr 26, 2021 |
| Urofacial syndrome 2 | 1 | Feb 15, 2019 |
| Usher syndrome type 2A | 4 | Oct 23, 2025 |
| Usher syndrome type 2C | 2 | Apr 17, 2025 |
| Van den Ende-Gupta syndrome | 1 | Apr 26, 2023 |
| Van der Woude syndrome 1 | 4 | Oct 29, 2021 |
| Ventriculomegaly | 1 | Jun 14, 2021 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Oct 29, 2021 |
| Ververi-Brady syndrome | 1 | Apr 23, 2024 |
| Visceral myopathy 1 | 1 | Apr 26, 2017 |
| Vissers-Bodmer syndrome | 1 | Oct 21, 2020 |
| Waardenburg syndrome type 2A | 1 | Jul 3, 2017 |
| Weaver syndrome | 1 | Oct 29, 2021 |
| Wiedemann-Steiner syndrome | 5 | Apr 17, 2024 |
| Wolfram-like syndrome | 1 | Jul 3, 2017 |
| X-linked Alport syndrome | 4 | Oct 23, 2025 |
| X-linked Opitz G/BBB syndrome | 2 | Apr 23, 2024 |
| X-linked complicated corpus callosum dysgenesis | 1 | Feb 24, 2023 |
| X-linked intellectual disability Cabezas type | 2 | Oct 26, 2017 |
| X-linked intellectual disability, Cantagrel type | 1 | Oct 26, 2017 |
| X-linked intellectual disability, van Esch type | 1 | Sep 23, 2022 |
| Zimmermann-Laband syndrome 1 | 1 | Feb 6, 2018 |
| brain structure abnormalities | 1 | Oct 20, 2020 |
| von Willebrand disease type 1 | 1 | Oct 17, 2019 |
| von Willebrand disease type 2 | 1 | Nov 26, 2018 |
