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 |