| 46,XY sex reversal, type 3 | 1 | Apr 26, 2017 |
| AICAR transformylase/IMP cyclohydrolase deficiency | 2 | Apr 26, 2017 |
| AU-KLINE SYNDROME | 1 | Feb 15, 2019 |
| Abdominal obesity-metabolic syndrome 3 | 1 | Oct 26, 2017 |
| Abnormal brainstem MRI signal intensity | 1 | Aug 27, 2019 |
| Abnormal facial shape | 1 | Jan 9, 2019 |
| Absent speech | 1 | Jan 9, 2019 |
| Achromatopsia 2 | 1 | Oct 21, 2020 |
| Acromelic frontonasal dysostosis | 1 | Feb 6, 2018 |
| Acute intermittent porphyria | 1 | Nov 26, 2018 |
| Adams-Oliver syndrome 2 | 1 | Oct 21, 2020 |
| 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 |
| Alazami syndrome | 3 | May 14, 2018 |
| Allan-Herndon-Dudley syndrome | 2 | Feb 6, 2018 |
| Alopecia-mental retardation syndrome 4 | 2 | Oct 21, 2020 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 2 | Nov 26, 2018 |
| Alport syndrome 1, X-linked recessive | 1 | Feb 15, 2019 |
| Alport syndrome 3, autosomal dominant | 1 | Oct 20, 2020 |
| Alstrom syndrome | 4 | Feb 6, 2018 |
| Aminoglycoside-induced deafness | 2 | May 15, 2019 |
| Angelman syndrome | 2 | Feb 6, 2018 |
| Aortic aneurysm, familial thoracic 7 | 1 | Nov 26, 2018 |
| Aplasia/Hypoplasia of the corpus callosum | 1 | Jan 9, 2019 |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 | 4 | Oct 17, 2019 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Nov 26, 2018 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Oct 17, 2019 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 | 2 | Oct 20, 2020 |
| Arterial tortuosity syndrome | 1 | Oct 20, 2020 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Apr 26, 2017 |
| Attention deficit hyperactivity disorder | 2 | Aug 27, 2019 |
| Autism, susceptibility to, 18 | 2 | Oct 17, 2019 |
| Autistic behavior | 24 | Aug 27, 2019 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Feb 6, 2018 |
| Autosomal recessive congenital ichthyosis 5 | 1 | Oct 21, 2020 |
| Autosomal recessive cutis laxa type 1B | 1 | Oct 20, 2020 |
| Autosomal recessive cutis laxa type 2B | 2 | Oct 17, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Feb 6, 2018 |
| Autosomal recessive polycystic kidney disease | 4 | Feb 6, 2018 |
| Axenfeld-Rieger syndrome type 3 | 1 | Feb 15, 2019 |
| Baraitser-Winter syndrome 1 | 2 | Oct 20, 2020 |
| Beaulieu-Boycott-Innes syndrome | 2 | Apr 26, 2017 |
| Beck-Fahrner syndrome | 1 | Oct 21, 2020 |
| Behavioral abnormality | 1 | Jan 9, 2019 |
| Bethlem myopathy 1 | 1 | Feb 6, 2018 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 2 | Feb 6, 2018 |
| Blepharophimosis intellectual disability syndrome | 1 | Oct 20, 2020 |
| Blepharophimosis, ptosis, and epicanthus inversus | 1 | Feb 6, 2018 |
| Bohring-Opitz syndrome | 2 | Feb 6, 2018 |
| Borjeson-Forssman-Lehmann syndrome | 2 | Oct 17, 2019 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 5 | Oct 17, 2019 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Oct 20, 2020 |
| Branchiooculofacial syndrome | 1 | Feb 6, 2018 |
| Breast-ovarian cancer, familial 1 | 2 | Oct 17, 2019 |
| Breast-ovarian cancer, familial 2 | 8 | Oct 17, 2019 |
| Brugada syndrome 2 | 1 | Nov 26, 2018 |
| Brugada syndrome 7 | 1 | Nov 26, 2018 |
| CEBALID syndrome | 11 | Sep 29, 2020 |
| CHARGE association | 1 | Apr 26, 2017 |
| CODAS syndrome | 2 | Oct 17, 2019 |
| COG7 congenital disorder of glycosylation | 1 | Oct 17, 2019 |
| Camptomelic dysplasia | 1 | Feb 6, 2018 |
| Cardiac conduction disease with or without dilated cardiomyopathy | 1 | Apr 26, 2017 |
| Cardiac valvular dysplasia, X-linked | 1 | Feb 15, 2019 |
| Cardiofaciocutaneous syndrome 1 | 2 | Feb 15, 2019 |
| Cardiofaciocutaneous syndrome 3 | 1 | Oct 17, 2019 |
| Cataract, autosomal dominant | 1 | Oct 21, 2020 |
| Catel Manzke syndrome | 1 | Oct 20, 2020 |
| Cerebellar ataxia, nonprogressive, with mental retardation | 2 | Oct 20, 2020 |
| Cerebrooculofacioskeletal syndrome 2 | 2 | Feb 6, 2018 |
| Charcot-Marie-Tooth disease type 2E | 1 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease, axonal, type 2O | 1 | Apr 26, 2017 |
| Charcot-Marie-Tooth disease, demyelinating, type 1f | 1 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 1 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease, type 4C | 4 | Oct 17, 2019 |
| Charlevoix-Saguenay spastic ataxia | 2 | Feb 6, 2018 |
| Chops syndrome | 1 | Feb 15, 2019 |
| Chromosome 15q11-q13 duplication syndrome | 1 | Feb 15, 2019 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Feb 15, 2019 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 | Nov 26, 2018 |
| Coenzyme Q10 deficiency, primary, 4 | 4 | Apr 26, 2017 |
| Coffin-Lowry syndrome | 1 | Feb 6, 2018 |
| Coffin-Siris syndrome 1 | 4 | Oct 17, 2019 |
| Coffin-Siris syndrome 5 | 1 | Feb 6, 2018 |
| Cohen syndrome | 10 | Feb 6, 2018 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 2 | Feb 15, 2019 |
| Congenital disorder of deglycosylation | 2 | Apr 26, 2017 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 1 | Oct 20, 2020 |
| Congenital dyserythropoietic anemia, type I | 2 | Oct 17, 2019 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 3 | Oct 21, 2020 |
| Congenital lactase deficiency | 1 | Oct 21, 2020 |
| Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | 1 | Feb 6, 2018 |
| Congenital ocular coloboma | 1 | Apr 8, 2015 |
| Cornelia de Lange syndrome 1 | 3 | Oct 21, 2020 |
| 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 |
| Cortical dysplasia | 1 | Jan 9, 2019 |
| Cortical dysplasia, complex, with other brain malformations 1 | 2 | Apr 26, 2017 |
| Cortical dysplasia, complex, with other brain malformations 5 | 1 | Feb 15, 2019 |
| Coxopodopatellar syndrome | 1 | Oct 20, 2020 |
| Cranioectodermal dysplasia 1 | 1 | Oct 21, 2020 |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 1 | Feb 6, 2018 |
| Craniofrontonasal syndrome | 1 | Feb 6, 2018 |
| Creatine transporter deficiency | 2 | Feb 15, 2019 |
| Cutis laxa, autosomal recessive IIIA | 1 | Feb 6, 2018 |
| Cystic fibrosis | 5 | Oct 17, 2019 |
| Deafness, autosomal recessive 3 | 1 | Feb 6, 2018 |
| Deficiency of alpha-mannosidase | 4 | Feb 6, 2018 |
| Delayed fine motor development | 5 | Aug 27, 2019 |
| Developmental and epileptic encephalopathy, 65 | 2 | Oct 17, 2019 |
| Developmental delay | 1 | Oct 20, 2020 |
| Developmental delay with short stature, dysmorphic features, and sparse hair | 1 | Feb 6, 2018 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Oct 21, 2020 |
| Developmental delay, intellectual disability, obesity, and dysmorphic features | 1 | Oct 17, 2019 |
| Dilated cardiomyopathy 1A | 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 |
| Distal hereditary motor neuronopathy type 5 | 2 | Feb 15, 2019 |
| 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 1 | 1 | Feb 6, 2018 |
| Dystonia 5 | 1 | Nov 26, 2018 |
| EEG abnormality | 1 | Jan 9, 2019 |
| Early infantile epileptic encephalopathy 11 | 5 | Oct 20, 2020 |
| Early infantile epileptic encephalopathy 14 | 1 | Oct 26, 2017 |
| Early infantile epileptic encephalopathy 17 | 1 | Apr 26, 2017 |
| Early infantile epileptic encephalopathy 2 | 1 | Apr 6, 2020 |
| Early infantile epileptic encephalopathy 4 | 1 | Oct 26, 2017 |
| Early infantile epileptic encephalopathy 7 | 3 | Oct 20, 2020 |
| Early infantile epileptic encephalopathy 8 | 2 | Jul 3, 2017 |
| Ehlers-Danlos syndrome, type 4 | 1 | Feb 15, 2019 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 1 | Apr 26, 2017 |
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 3 | Oct 17, 2019 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Oct 17, 2019 |
| Epilepsy, hearing loss, and mental retardation syndrome | 1 | Feb 15, 2019 |
| Epileptic encephalopathy | 4 | Apr 6, 2020 |
| Epileptic encephalopathy, childhood-onset | 1 | Oct 21, 2020 |
| Epileptic encephalopathy, early infantile, 19 | 1 | Apr 26, 2017 |
| Epileptic encephalopathy, early infantile, 24 | 1 | Oct 26, 2017 |
| Epileptic encephalopathy, early infantile, 25 | 3 | Apr 26, 2017 |
| Epileptic encephalopathy, early infantile, 26 | 2 | Feb 6, 2018 |
| Epileptic encephalopathy, early infantile, 27 | 1 | Oct 17, 2019 |
| Epileptic encephalopathy, early infantile, 31 | 1 | Oct 17, 2019 |
| Epileptic encephalopathy, early infantile, 32 | 1 | Apr 26, 2017 |
| Epileptic encephalopathy, early infantile, 33 | 1 | Apr 26, 2017 |
| Epileptic encephalopathy, early infantile, 54 | 1 | Feb 6, 2018 |
| Exercise-induced hyperinsulinism | 1 | Oct 17, 2019 |
| Exudative vitreoretinopathy 4 | 1 | Oct 21, 2020 |
| FG syndrome 1 | 1 | Apr 26, 2017 |
| Familial acne inversa 1 | 1 | Feb 6, 2018 |
| Familial adenomatous polyposis 1 | 1 | Nov 26, 2018 |
| Familial cancer of breast | 2 | Oct 17, 2019 |
| Familial hypercholesterolemia 3 | 1 | Nov 26, 2018 |
| Familial hypertrophic cardiomyopathy 1 | 2 | Oct 20, 2020 |
| Familial hypertrophic cardiomyopathy 10 | 2 | Nov 26, 2018 |
| Familial hypertrophic cardiomyopathy 8 | 1 | Nov 26, 2018 |
| Familial isolated deficiency of vitamin E | 1 | Apr 26, 2017 |
| 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 |
| Frontonasal dysplasia 1 | 1 | Feb 6, 2018 |
| Frontotemporal dementia | 1 | Oct 21, 2020 |
| GLUT1 deficiency syndrome 1 | 1 | Apr 26, 2017 |
| Gait ataxia | 2 | Aug 27, 2019 |
| Gait disturbance | 2 | Aug 27, 2019 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Feb 6, 2018 |
| Generalized hypotonia | 1 | Jan 9, 2019 |
| Global developmental delay | 1 | Oct 17, 2019 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 1 | Feb 15, 2019 |
| Glomuvenous malformations | 1 | Feb 6, 2018 |
| Glycogen storage disease type IXa1 | 1 | Oct 17, 2019 |
| Glycogen storage disease, type VI | 1 | Oct 17, 2019 |
| Hamartoma of hypothalamus | 2 | Oct 20, 2020 |
| Hearing loss | 1 | Aug 17, 2020 |
| Helsmoortel-Van der Aa Syndrome | 1 | Apr 26, 2017 |
| Hemochromatosis type 1 | 1 | Oct 17, 2019 |
| Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | 1 | Oct 17, 2019 |
| Hereditary factor XI deficiency disease | 1 | Oct 17, 2019 |
| Hereditary hemorrhagic telangiectasia type 1 | 1 | Nov 26, 2018 |
| Hereditary nonpolyposis colorectal cancer type 4 | 1 | Feb 6, 2018 |
| Hereditary nonpolyposis colorectal cancer type 7 | 1 | Nov 26, 2018 |
| Hereditary spastic paraplegia 3A | 1 | Oct 17, 2019 |
| Hereditary spastic paraplegia 8 | 1 | Feb 15, 2019 |
| Hermansky-Pudlak syndrome 3 | 1 | Apr 26, 2017 |
| Hirschsprung disease 1 | 1 | Feb 15, 2019 |
| Hydranencephaly with renal aplasia-dysplasia | 1 | Oct 21, 2020 |
| Hyperphosphatasia with mental retardation syndrome 3 | 2 | Oct 17, 2019 |
| Hyperphosphatasia with mental retardation syndrome 4 | 3 | Oct 20, 2020 |
| Hypertelorism, Teebi type | 1 | Oct 17, 2019 |
| Hypertrichotic osteochondrodysplasia Cantu type | 2 | Jul 3, 2017 |
| Hypokalemic periodic paralysis 1 | 1 | Nov 26, 2018 |
| Hypoplasia of the frontal lobes | 1 | Aug 27, 2019 |
| Hypoplastic anterior commissure | 1 | Jan 9, 2019 |
| Hypoplastic hippocampus | 1 | Jan 9, 2019 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Jul 3, 2017 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | 1 | Jul 3, 2017 |
| Inflexible adherence to routines or rituals | 1 | Jan 9, 2019 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | Feb 15, 2019 |
| 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 | 2 | Oct 21, 2020 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Oct 20, 2020 |
| Intellectual developmental disorder with persistence of fetal hemoglobin | 3 | Feb 15, 2019 |
| Intellectual disability | 15 | Jun 17, 2019 |
| Intellectual disability, autosomal dominant 51 | 1 | Feb 15, 2019 |
| Intellectual disability, autosomal dominant 53 | 1 | Feb 15, 2019 |
| Intellectual disability, autosomal dominant 9 | 2 | Feb 15, 2019 |
| Intellectual disability, severe | 1 | Apr 26, 2017 |
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | 7 | Jun 17, 2019 |
| KBG syndrome | 6 | Feb 15, 2019 |
| Kabuki syndrome 1 | 2 | Feb 6, 2018 |
| Kabuki syndrome 2 | 1 | Feb 6, 2018 |
| Kaufman oculocerebrofacial syndrome | 1 | Apr 26, 2017 |
| Kleefstra syndrome 1 | 4 | Feb 15, 2019 |
| Klippel-Feil syndrome 1, autosomal dominant | 1 | Oct 17, 2019 |
| Koolen-de Vries syndrome | 2 | Jul 3, 2017 |
| LEOPARD syndrome 1 | 2 | Oct 17, 2019 |
| Lamb-shaffer syndrome | 1 | Jul 3, 2017 |
| Language impairment | 1 | Apr 6, 2020 |
| Large hands | 1 | Apr 8, 2015 |
| Leber's optic atrophy | 3 | May 15, 2019 |
| Left ventricular noncompaction 10 | 5 | Oct 17, 2019 |
| Left ventricular noncompaction 6 | 2 | Nov 26, 2018 |
| Leptin receptor deficiency | 1 | Feb 15, 2019 |
| Levy-Hollister syndrome | 1 | Apr 26, 2017 |
| Leydig cell hypoplasia, type 1 | 2 | Oct 17, 2019 |
| Li-Fraumeni syndrome 1 | 1 | Feb 6, 2018 |
| Limb myoclonus | 1 | Aug 27, 2019 |
| 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 |
| Lowe syndrome | 2 | Feb 15, 2019 |
| MEHMO syndrome | 1 | Sep 24, 2019 |
| Macrocephalus | 2 | Jul 3, 2017 |
| Malignant tumor of prostate | 1 | Oct 17, 2019 |
| Marfan syndrome | 1 | Apr 26, 2017 |
| Marfanoid habitus and intellectual disability | 78 | May 15, 2019 |
| Marshall-Smith syndrome | 1 | Feb 6, 2018 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Feb 15, 2019 |
| Menke-Hennekam syndrome 1 | 1 | Oct 17, 2019 |
| Mental retardation 49, X-linked | 1 | Oct 17, 2019 |
| Mental retardation 58, X-linked | 1 | Nov 26, 2018 |
| Mental retardation and distinctive facial features with or without cardiac defects | 5 | Oct 17, 2019 |
| Mental retardation with language impairment and with or without autistic features | 1 | Feb 6, 2018 |
| Mental retardation, X-linked 1 | 1 | Jul 3, 2017 |
| Mental retardation, X-linked 102 | 6 | Feb 15, 2019 |
| Mental retardation, X-linked 19 | 1 | Nov 26, 2018 |
| Mental retardation, X-linked 98 | 1 | Oct 26, 2017 |
| Mental retardation, X-linked, syndromic 33 | 1 | Jul 3, 2017 |
| Mental retardation, autosomal dominant 13 | 2 | Oct 17, 2019 |
| Mental retardation, autosomal dominant 14 | 1 | Feb 6, 2018 |
| Mental retardation, autosomal dominant 15 | 1 | Feb 6, 2018 |
| Mental retardation, autosomal dominant 16 | 1 | Apr 26, 2017 |
| Mental retardation, autosomal dominant 18 | 3 | Oct 20, 2020 |
| Mental retardation, autosomal dominant 19 | 1 | Apr 26, 2017 |
| Mental retardation, autosomal dominant 22 | 2 | Feb 15, 2019 |
| Mental retardation, autosomal dominant 23 | 3 | Apr 26, 2017 |
| Mental retardation, autosomal dominant 26 | 2 | Oct 17, 2019 |
| Mental retardation, autosomal dominant 27 | 1 | Feb 15, 2019 |
| Mental retardation, autosomal dominant 31 | 4 | Apr 6, 2020 |
| Mental retardation, autosomal dominant 32 | 2 | Feb 6, 2018 |
| Mental retardation, autosomal dominant 35 | 2 | Oct 21, 2020 |
| Mental retardation, autosomal dominant 36 | 1 | Apr 26, 2017 |
| Mental retardation, autosomal dominant 39 | 1 | Feb 15, 2019 |
| Mental retardation, autosomal dominant 40 | 1 | Oct 17, 2019 |
| Mental retardation, autosomal dominant 41 | 2 | Jul 3, 2017 |
| Mental retardation, autosomal dominant 43 | 1 | Feb 6, 2018 |
| Mental retardation, autosomal dominant 44 | 1 | Feb 15, 2019 |
| Mental retardation, autosomal dominant 5 | 2 | Apr 6, 2020 |
| Mental retardation, autosomal dominant 57 | 1 | Oct 17, 2019 |
| Mental retardation, autosomal dominant 6 | 1 | Oct 17, 2019 |
| Mental retardation, autosomal dominant 7 | 4 | Feb 15, 2019 |
| Mental retardation, autosomal recessive 13 | 1 | Apr 26, 2017 |
| Mental retardation, autosomal recessive 18 | 1 | Feb 6, 2018 |
| Mental retardation, autosomal recessive 27 | 1 | Oct 21, 2020 |
| Mental retardation, autosomal recessive 40 | 1 | Apr 26, 2017 |
| Mental retardation, autosomal recessive 43 | 2 | Jun 3, 2019 |
| Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 1 | Oct 17, 2019 |
| Mental retardation, syndromic, Claes-Jensen type, X-linked | 3 | Feb 6, 2018 |
| Mental retardation, with or without seizures, ARX-related, X-linked | 1 | Nov 26, 2018 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 | Oct 17, 2019 |
| Microcephaly 18, primary, autosomal dominant | 1 | Oct 21, 2020 |
| Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | 2 | Oct 21, 2020 |
| Microphthalmia, isolated, with coloboma 5 | 1 | Apr 26, 2017 |
| Microphthalmia, syndromic 12 | 1 | Feb 6, 2018 |
| Mirage syndrome | 1 | Feb 6, 2018 |
| Mitochondrial complex III deficiency, nuclear type 5 | 1 | Feb 15, 2019 |
| Moderate global developmental delay | 15 | Aug 27, 2019 |
| Motor delay | 1 | Oct 20, 2020 |
| Mowat-Wilson syndrome | 1 | Oct 26, 2017 |
| Mucopolysaccharidosis, MPS-II | 1 | Nov 26, 2018 |
| Mulibrey nanism syndrome | 1 | Apr 26, 2017 |
| Multiple endocrine neoplasia, type 2b | 4 | Nov 26, 2018 |
| Multiple epiphyseal dysplasia type 4 | 1 | Oct 21, 2020 |
| Multiple fibrofolliculomas | 2 | Nov 26, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Jul 3, 2017 |
| Myasthenic syndrome, congenital, 20, presynaptic | 1 | Feb 6, 2018 |
| Myhre syndrome | 1 | Feb 6, 2018 |
| Myoclonic-atonic epilepsy | 2 | Apr 26, 2017 |
| Myopathy, early-onset, with fatal cardiomyopathy | 2 | Apr 26, 2017 |
| Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | 2 | Apr 26, 2017 |
| N-terminal acetyltransferase deficiency | 1 | Feb 6, 2018 |
| Nail-patella syndrome | 1 | Apr 26, 2017 |
| Nance-Horan syndrome | 1 | Apr 26, 2017 |
| Nemaline myopathy 2 | 2 | Oct 17, 2019 |
| Nephronophthisis 12 | 1 | Apr 26, 2017 |
| Nephropathy with pretibial epidermolysis bullosa and deafness | 1 | Oct 21, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Feb 15, 2019 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Feb 15, 2019 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Feb 15, 2019 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Feb 15, 2019 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Oct 21, 2020 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 1 | Oct 17, 2019 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 | Oct 20, 2020 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 1 | Oct 21, 2020 |
| Neurofibromatosis, type 1 | 1 | Feb 15, 2019 |
| Neuronal ceroid lipofuscinosis 1 | 3 | Apr 26, 2017 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Apr 26, 2017 |
| Nicolaides-Baraitser syndrome | 1 | Oct 21, 2020 |
| Noonan syndrome 1 | 5 | Oct 17, 2019 |
| Noonan syndrome 7 | 2 | Oct 21, 2020 |
| 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 | 1 | Oct 20, 2020 |
| Okur-chung neurodevelopmental syndrome | 2 | Feb 6, 2018 |
| Opitz GBBB syndrome, type II | 2 | Oct 17, 2019 |
| Ornithine carbamoyltransferase deficiency | 1 | Oct 17, 2019 |
| Orofaciodigital syndrome I | 8 | Oct 21, 2020 |
| Overgrowth | 1 | Apr 8, 2015 |
| Paragangliomas 4 | 3 | Nov 26, 2018 |
| Pelizaeus-Merzbacher disease | 2 | Oct 26, 2017 |
| Pena-Shokeir syndrome type I | 2 | Feb 6, 2018 |
| Peters plus syndrome | 1 | Feb 6, 2018 |
| Pfeiffer syndrome | 1 | Feb 6, 2018 |
| Phenylketonuria | 4 | Feb 15, 2019 |
| Phenytoin response | 2 | Oct 21, 2020 |
| Pigmentary pallidal degeneration | 1 | Feb 15, 2019 |
| Pigmented nodular adrenocortical disease, primary, 2 | 1 | Nov 26, 2018 |
| Pitt-Hopkins syndrome | 3 | Apr 26, 2017 |
| Poikiloderma with neutropenia | 1 | Feb 6, 2018 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | Oct 21, 2020 |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 2 | Jul 3, 2017 |
| Progressive cerebellar ataxia | 1 | May 15, 2019 |
| Proopiomelanocortin deficiency | 2 | Feb 15, 2019 |
| Rahman syndrome | 1 | Oct 17, 2019 |
| Renal dysplasia | 1 | Feb 6, 2018 |
| Retinitis pigmentosa 15 | 1 | Oct 17, 2019 |
| Retinitis pigmentosa 18 | 1 | Oct 21, 2020 |
| Retinitis pigmentosa 4 | 1 | Oct 17, 2019 |
| Rett syndrome | 3 | Oct 20, 2020 |
| Rett syndrome, congenital variant | 1 | Oct 26, 2017 |
| Rigidity and multifocal seizure syndrome, lethal neonatal | 4 | Feb 15, 2019 |
| Rothmund-Thomson syndrome | 3 | Feb 6, 2018 |
| Rubinstein-Taybi syndrome 1 | 3 | Oct 17, 2019 |
| Rubinstein-Taybi syndrome 2 | 3 | Feb 15, 2019 |
| STAG1-related disorder | 10 | Apr 13, 2017 |
| Saethre-Chotzen syndrome | 1 | Oct 17, 2019 |
| Salt and pepper developmental regression syndrome | 1 | Apr 26, 2017 |
| Schuurs-hoeijmakers syndrome | 1 | Feb 15, 2019 |
| Scrotal hypoplasia | 1 | Apr 26, 2017 |
| Seizures | 4 | Aug 27, 2019 |
| Seizures, benign familial infantile, 5 | 1 | Feb 15, 2019 |
| Severe global developmental delay | 18 | Apr 6, 2020 |
| Severe myoclonic epilepsy in infancy | 1 | Oct 17, 2019 |
| Shashi-Pena syndrome | 2 | Feb 15, 2019 |
| Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 1 | Apr 26, 2017 |
| Shprintzen-Goldberg syndrome | 2 | Feb 15, 2019 |
| Sick sinus syndrome 1, autosomal recessive | 1 | Apr 26, 2017 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Nov 26, 2018 |
| Skraban-Deardorff syndrome | 1 | Oct 17, 2019 |
| Smith-Lemli-Opitz syndrome | 2 | Feb 6, 2018 |
| Sotos syndrome 1 | 4 | Oct 17, 2019 |
| Sotos syndrome 2 | 2 | Apr 6, 2020 |
| Spastic paraplegia 11, autosomal recessive | 2 | Jul 3, 2017 |
| Spastic paraplegia 31, autosomal dominant | 1 | Jul 3, 2017 |
| Spastic paraplegia 4, autosomal dominant | 1 | Oct 17, 2019 |
| Spastic paraplegia 80, autosomal dominant | 1 | Oct 17, 2019 |
| Specific learning disability | 1 | Apr 6, 2020 |
| Spinocerebellar ataxia type 19/22 | 1 | Oct 17, 2019 |
| Spinocerebellar ataxia type 28 | 1 | Oct 17, 2019 |
| Spinocerebellar ataxia type 5 | 2 | Oct 17, 2019 |
| Spinocerebellar ataxia, autosomal recessive 10 | 2 | Apr 26, 2017 |
| Spondylocarpotarsal synostosis syndrome | 2 | Feb 6, 2018 |
| Spondylocostal dysostosis 1, autosomal recessive | 1 | Feb 6, 2018 |
| Spondylocostal dysostosis 4, autosomal recessive | 1 | Feb 6, 2018 |
| Spondyloepiphyseal dysplasia tarda | 1 | Apr 26, 2017 |
| Spondyloepiphyseal dysplasia, stanescu type | 1 | Apr 26, 2017 |
| Spondylometaphyseal dysplasia | 1 | Oct 17, 2019 |
| Stomatin-deficient cryohydrocytosis with neurologic defects | 1 | Feb 15, 2019 |
| Sudden infant death with dysgenesis of the testes syndrome | 2 | Dec 2, 2020 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Apr 26, 2017 |
| Syndromic X-linked intellectual disability Turner type | 1 | Oct 17, 2019 |
| Syndromic X-linked mental retardation, Cabezas type | 2 | Oct 26, 2017 |
| Syndromic microphthalmia type 5 | 2 | Feb 15, 2019 |
| Takenouchi-Kosaki syndrome | 1 | Feb 15, 2019 |
| Tatton-Brown-rahman syndrome | 1 | Feb 6, 2018 |
| Tay-Sachs disease | 1 | Feb 6, 2018 |
| Temple-Baraitser syndrome | 1 | Feb 6, 2018 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Nov 26, 2018 |
| Tietz syndrome | 1 | Jul 3, 2017 |
| Tooth agenesis, selective, 3 | 1 | Apr 26, 2017 |
| Tuberous sclerosis 1 | 1 | Nov 26, 2018 |
| Turnpenny-fry syndrome | 1 | Oct 17, 2019 |
| Ulnar deviation of the wrist | 3 | Jul 18, 2017 |
| Urofacial syndrome 2 | 1 | Feb 15, 2019 |
| Usher syndrome, type 2C | 1 | Oct 17, 2019 |
| Van der Woude syndrome | 3 | Feb 6, 2018 |
| Verheij syndrome | 3 | Apr 6, 2020 |
| Visceral myopathy | 1 | Apr 26, 2017 |
| Vissers-Bodmer syndrome | 1 | Oct 21, 2020 |
| Waardenburg syndrome type 2A | 1 | Jul 3, 2017 |
| White-sutton syndrome | 5 | Feb 15, 2019 |
| Wiedemann-Steiner syndrome | 4 | Oct 17, 2019 |
| Wolfram-like syndrome, autosomal dominant | 1 | Jul 3, 2017 |
| Xia-Gibbs syndrome | 4 | Oct 17, 2019 |
| Zimmermann-Laband syndrome 1 | 1 | Feb 6, 2018 |
| brain structure abnormalities | 1 | Oct 20, 2020 |
| facial dysmorphism | 1 | Apr 8, 2015 |
| learning disabilities | 1 | Apr 8, 2015 |
| von Willebrand disease type 1 | 1 | Oct 17, 2019 |
| von Willebrand disease type 2 | 1 | Nov 26, 2018 |
