Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Ventricular septal def... |
OMIM:231060 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Multiple renal ... |
ORPHA:1166 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus |
OMIM:601355 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Cleft palate, Micropenis, Ureteral duplication, Tetralogy of Fallot, Ve... |
ORPHA:1926 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, ... |
OMIM:608978 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Microphthalmia |
OMIM:248110 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Urethral st... |
ORPHA:1727 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... |
OMIM:616749 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Atrial septal defect, Velopharyngea... |
ORPHA:363444 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, T... |
ORPHA:1913 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Pulmonary artery hypopla... |
ORPHA:2326 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Hypoplastic left heart, Unilateral renal agenesis, Renal hypoplasia, Pate... |
OMIM:617661 |
Distal Trisomy 14Q |
|
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... |
ORPHA:1705 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation o... |
OMIM:600987 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Recurrent urinary t... |
OMIM:613680 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Bilater... |
OMIM:601186 |
Johnson Neuroectodermal Syndrome |
|
Cleft palate, Micropenis, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Rig... |
OMIM:147770 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... |
OMIM:618316 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Atrial septal defect, Micropenis, Unilateral renal agenesis, Hypoplastic right heart... |
OMIM:618142 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Unilate... |
OMIM:608572 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Pulmonic steno... |
ORPHA:3426 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis |
OMIM:617577 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... |
ORPHA:251071 |
Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Stillbirth, Truncus arteriosus |
OMIM:274210 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Everted lower lip vermilion, Pulmonic stenosis, Long philtrum, Anterior open-bite ma... |
OMIM:617877 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... |
OMIM:612946 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Death in... |
OMIM:613759 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... |
OMIM:192430 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Unilateral renal agenesis, Short philtrum, Tetralogy of Fallot, Ventricular septal d... |
ORPHA:3306 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Renal agenesis, Abnormal lung lobati... |
ORPHA:2516 |
Thoracoabdominal Syndrome |
|
Cleft upper lip, Cleft palate, Renal agenesis, Hypospadias, Ectopia cordis, Patent ductus arterio... |
OMIM:313850 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Pulmonic stenosis, Abno... |
OMIM:179613 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... |
OMIM:220210 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defec... |
OMIM:306955 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... |
OMIM:270100 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Enlarge... |
OMIM:314390 |
Oligomeganephronia |
|
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... |
ORPHA:2260 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Long philtrum, Pulmonary artery atresia, Ventricula... |
ORPHA:401935 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cereb... |
OMIM:604213 |
Emanuel Syndrome |
|
High palate, Anal atresia, Ectopic anus, Aortic valve stenosis, Atrial septal defect, Cleft palat... |
ORPHA:96170 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Thin upper lip vermilion, Patent ductus arterios... |
OMIM:601927 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... |
OMIM:619910 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... |
OMIM:600001 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... |
OMIM:601612 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Atrial septal defect |
OMIM:608406 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... |
ORPHA:244 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Paten... |
OMIM:616789 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Wide mouth, Peripheral pulmonary artery stenosis, Cleft palate, Short philtrum, Tetralogy of Fall... |
OMIM:280000 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis |
OMIM:615542 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Unilateral renal agenesis, Short philtrum, Diastema, Patent ductus arteriosus, Hydro... |
OMIM:609757 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Tracheoesophageal fistula, Esophageal... |
ORPHA:95430 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... |
ORPHA:2306 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Long philtrum, Coarctation of... |
ORPHA:2209 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... |
ORPHA:449400 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Abnorm... |
ORPHA:477817 |
Chopra-Amiel-Gordon Syndrome |
|
Cleft palate, Unilateral renal agenesis, Short philtrum, Cleft lip, Pierre-Robin sequence, Thin u... |
OMIM:619504 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... |
OMIM:613426 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Tented upper lip vermi... |
ORPHA:2059 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Long philtrum, Neonatal death, Protein-losing enteropathy, Patent ductus arteriosus, Death in inf... |
OMIM:608104 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:615771 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Ververi-Brady Syndrome |
|
High palate, Wide mouth, Everted lower lip vermilion, Transposition of the great arteries, Thin u... |
OMIM:617982 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Unilateral renal agenesis, Hyperechogenic kidneys, Inflammation of the larg... |
OMIM:614576 |
Chromosome 9P Deletion Syndrome |
|
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Micropenis, ... |
OMIM:158170 |
Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the ureter,... |
ORPHA:1666 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Cleft palate, Micropenis, Hypospadias, Death in childhood, Coarctation of aorta,... |
OMIM:600460 |
Mungan Syndrome |
|
Barrett esophagus, Pulmonic stenosis, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduoden... |
OMIM:611376 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Increased circulating IgG level |
OMIM:618982 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... |
ORPHA:980 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Decreased body weight, EEG abnormality, Short stature, Optic nerve hy... |
OMIM:614833 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Optic atrophy, Microphthalmia, Growth delay, Agenesis of corpus callosum |
OMIM:274270 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level |
OMIM:616636 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Hematuria, Patent ductus arteriosus, Abno... |
ORPHA:90308 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Cleft palate, Unilateral renal agenesis, Renal agenesis, Ectopic kidney |
OMIM:601076 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Narrow mouth, Carious teeth, Downturned corners of mouth, Abnormal ao... |
ORPHA:1110 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... |
OMIM:605376 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Increased circulating IgG level |
OMIM:619220 |
Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials |
ORPHA:99852 |
Thakker-Donnai Syndrome |
|
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Tetralogy of Fallot, Ventricular septal de... |
ORPHA:1780 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial ... |
ORPHA:290 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis,... |
ORPHA:251076 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, High palate |
OMIM:619995 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:613493 |
Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Thin upper lip vermilion, Vesicoureteral reflux |
ORPHA:2512 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Progressive hearing impairment, Cerebellar hypoplasia, Short stature |
OMIM:616113 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the kidney, Abnormality of the pulmonary artery, Aganglionic megacolon |
ORPHA:895 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microphthalmia |
ORPHA:2432 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Renal Agenesis |
|
Anal atresia, Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... |
ORPHA:411709 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Persistence of primary teeth, Pulmonic stenosis, Hydroureter, ... |
OMIM:201000 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Microphthalmia, Intrauterine... |
OMIM:616171 |
Thomas Syndrome |
|
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... |
ORPHA:3316 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Unilateral renal agenesis, Cleft palate, Micropenis |
OMIM:244200 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... |
ORPHA:99094 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Unilateral cleft lip, Hypospadias, Tetralogy of Fallot |
ORPHA:1919 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Unilateral renal agenesis, Methylmalonic aciduria, Intraventricular hemorrhage, Sto... |
ORPHA:79284 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Intestinal malrotation, Unilateral renal agenesis, Branchial fistula, ... |
OMIM:113650 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Unilateral renal agenesis, Neonatal death, Ventricular septal defect, Paten... |
OMIM:620024 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Intestinal malrotation, Ure... |
ORPHA:2255 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis, Aganglionic megacolon |
OMIM:235740 |
Sandestig-Stefanova Syndrome |
|
High palate, Oral cleft, Perimembranous ventricular septal defect, Muscular ventricular septal de... |
OMIM:618804 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... |
ORPHA:2712 |
Renal Tubular Dysgenesis |
|
Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis, Pulmonary hypopla... |
ORPHA:3033 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Distal Tetrasomy 15Q |
|
High palate, Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney d... |
ORPHA:314588 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... |
OMIM:618944 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... |
OMIM:619227 |
Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Wide mouth, Dental malocclusion, Pulmonic stenosis, Unilatera... |
OMIM:616737 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... |
OMIM:615502 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
OMIM:256690 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Chime Syndrome |
|
Pulmonary valve atresia, Supernumerary tooth, Hypodontia, Cleft palate, Abnormality of the dentit... |
ORPHA:3474 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Microphthalmia, Short stature, Cerebellar hypoplasia, Optic atrophy, Cerebella... |
OMIM:600118 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Coach Syndrome 1 |
|
Wide mouth, Nephronophthisis, Unilateral renal agenesis, Renal cyst, Vascular dilatation, Esophag... |
OMIM:216360 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Renal agenesis, Hypospadias, Long philtrum,... |
ORPHA:508498 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia, Renovascular hypertension |
OMIM:135580 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly |
ORPHA:1296 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Intestinal malrotation, Unilateral rena... |
OMIM:156810 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
ORPHA:859 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Hiatus hernia, Unilateral renal agenesis, Quadricuspid aortic valve, Mitral valve prolapse, Vesic... |
OMIM:606408 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate, Pat... |
ORPHA:2001 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Aortic Aneurysm, Familial Thoracic 9 |
|
High palate, Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral val... |
OMIM:616166 |
X-Linked Mandibulofacial Dysostosis |
|
High palate, Abnormal mitral valve morphology, Pulmonic stenosis, Abnormality of the pulmonary ar... |
ORPHA:1131 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Short stature, Aplasia/Hypoplasia of the cerebellum, Optic atro... |
ORPHA:1466 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Micropenis, Unilateral renal agenesis, Short philtrum, Deep philtr... |
OMIM:619951 |
Tetralogy Of Fallot |
|
Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Alg3-Cdg |
|
High palate, Macroglossia, Coarctation of the descending aortic arch, Pulmonary hypoplasia, Cardi... |
ORPHA:79321 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Microphthalmia |
OMIM:278780 |
2Q24 Microdeletion Syndrome |
|
Failure to thrive, Small for gestational age, Low-set, posteriorly rotated ears, Microphthalmia, ... |
ORPHA:1617 |
7Q11.23 Microduplication Syndrome |
|
High palate, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Enuresis, Thin ver... |
ORPHA:96121 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Hypodontia, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary ... |
OMIM:301056 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Macroglossia, Micropenis, Renal agenesis, Hypospadias, Diastema, Ve... |
OMIM:301040 |
Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Double outlet right ventricle with doubly co... |
ORPHA:1596 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Anal atresia, Duodenal atresia, Nephritis, Tricuspid stenosis, Abnormality of ... |
ORPHA:391641 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Ventricular septal defect, Abnormal tricuspid valve morphol... |
ORPHA:3405 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Renal agenesis, Short philtrum, Short lingual frenulum, Anteriorly pla... |
OMIM:608980 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... |
OMIM:249670 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... |
OMIM:610205 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Cleft palate, Nephronophthisis, Intestinal malrotation, Hypospadias, Ab... |
ORPHA:1505 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... |
OMIM:616898 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Cerebellar hypoplasia, Optic atrophy, Septo-optic dysplasia, M... |
ORPHA:1528 |
Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia |
ORPHA:2876 |
Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, Ventricular septal defect, Esophage... |
ORPHA:1923 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Abnormal palate morphology |
ORPHA:1381 |
Acrofacial Dysostosis 1, Nager Type |
|
Cleft upper lip, Wide mouth, Velopharyngeal insufficiency, Cleft palate, Unilateral renal agenesi... |
OMIM:154400 |
Facial Dysmorphism With Multiple Malformations |
|
Anal atresia, Narrow mouth, Tetralogy of Fallot, Ventricular septal defect, Downturned corners of... |
OMIM:227255 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... |
OMIM:601859 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Cleft palate, Smooth philtrum, Truncus arteriosus |
OMIM:611867 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malr... |
ORPHA:2970 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Wide mouth,... |
ORPHA:163956 |
Pagod Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Situs inversus to... |
ORPHA:991 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Abnormal stomach morphology, Renal insufficiency |
ORPHA:281090 |
Timothy Syndrome |
|
Microdontia, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus... |
OMIM:601005 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Bifid uvula, Tetralogy of Fallot, Ventricula... |
OMIM:612561 |
Biemond Syndrome Type 2 |
|
Hypospadias, Obesity, Microphthalmia |
ORPHA:141333 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Everted lower lip vermilion, Ventricular septal defect, Cleft lip, Interrupt... |
OMIM:616920 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cleft palate, Ureteral stenosis, Dextrocardia, Pulmonary hypoplasi... |
ORPHA:2257 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Wide mouth, Dental malocclusion, Unilateral renal agenesis, Hypospadias, Short philtrum, Long phi... |
ORPHA:487796 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Unilateral renal agenesis, Non-midline cleft lip, Abnormal palate morph... |
ORPHA:245 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Abcd Syndrome |
|
Neonatal death, Large for gestational age, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Hearing impairment, Short stature, Microphthalmia |
OMIM:610023 |
20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Atrial septal defect, Thin vermilion border, Hypospadias, ... |
ORPHA:261311 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemorrhage, Mitral valve calci... |
ORPHA:363618 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microphthalmia |
OMIM:218670 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Wide nasal bridge, Microphthalmia |
OMIM:615524 |
Pierpont Syndrome |
|
Large fleshy ears, Failure to thrive, Decreased body weight, Short stature, Chiari malformation, ... |
OMIM:602342 |
Pierpont Syndrome |
|
Uplifted earlobe, Microphthalmia, Small for gestational age, Chiari malformation, Macrotia, Heari... |
ORPHA:487825 |
Digeorge Syndrome |
|
High palate, High, narrow palate, Cleft palate, Unilateral renal agenesis, Short philtrum, Bifid ... |
OMIM:188400 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Unilateral renal agenesis, Tented upper lip vermilion, Open mouth |
OMIM:616362 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Ventricular septal defect, High, narrow palate, Mitral valve prolapse,... |
OMIM:180849 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Abnormality of the kidney, Cleft palate |
OMIM:118100 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft palate, Renal agenesis, Hypospadias, Bilateral lung agenesis, Hypoplasia of the bladder, Ve... |
OMIM:611812 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Monosomy 18Q |
|
Absence of the pulmonary valve, High palate, Wide mouth, Secundum atrial septal defect, Aortic va... |
ORPHA:1600 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Cleft palate, Ventricular septal defect, Pyloric stenosis, Pulmonary hypoplasia,... |
OMIM:270400 |
Tetraamelia Syndrome 2 |
|
Micropenis, Glossoptosis, Ventricular septal defect, Hypoplastic pulmonary veins, Bilateral cleft... |
OMIM:618021 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida |
OMIM:211960 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Meckel diverticulum, Hypoplastic left heart, Abnormal stomach mor... |
ORPHA:141127 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Intestinal malro... |
OMIM:613834 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hearing impairment, Bilateral microphthalmos |
OMIM:608763 |
Cardiac-Urogenital Syndrome |
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Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Tetralogy of Fa... |
OMIM:618280 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ogden Syndrome |
|
High palate, Abnormality of the dentition, Short philtrum, Enlarged kidney, Ventricular septal de... |
OMIM:300855 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... |
OMIM:615513 |
Zttk Syndrome |
|
High palate, Narrow mouth, Atrial septal defect, Intestinal atresia, Thin vermilion border, Abnor... |
OMIM:617140 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... |
OMIM:301043 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... |
ORPHA:2919 |
Down Syndrome |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... |
OMIM:190685 |
10Q22.3Q23.3 Microduplication Syndrome |
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Abnormality of the dentition, Abnormality of the philtrum, Hypospadias, Tetralogy of Fallot |
ORPHA:276422 |
Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... |
OMIM:616730 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septa... |
OMIM:616145 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy, Arterial intimal fibrosis, Pul... |
OMIM:178600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... |
OMIM:613153 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Atrial septal defect, Hypospadias, Bifid uvula, Recurr... |
OMIM:619314 |
Cat-Eye Syndrome |
|
Hearing impairment, Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:195 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Atrioventricular canal def... |
ORPHA:500 |
Neu-Laxova Syndrome 1 |
|
Cleft upper lip, Cleft palate, Renal agenesis, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:256520 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Cleft palate, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... |
ORPHA:2237 |
Braddock Syndrome |
|
Unilateral renal agenesis, Pulmonary fibrosis |
ORPHA:52047 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Cockayne Syndrome Type 3 |
|
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Unilateral renal agenesis... |
ORPHA:90324 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, High palate, Anal atresia, Macroglossia, Unilateral renal agenesis, Sho... |
ORPHA:261337 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Pulmonic stenos... |
OMIM:618223 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Short stature, Microphthalmia |
ORPHA:2528 |
Faciothoracogenital Syndrome |
|
Glandular hypospadias, Microphthalmia |
OMIM:227320 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Short stature, Rieger anomaly, Abnormal auditory evoked potenti... |
OMIM:109120 |
Vater/Vacterl Association |
|
Anal atresia, Renal agenesis, Tracheoesophageal fistula, Hypospadias, Tetralogy of Fallot, Renal ... |
OMIM:192350 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Micropenis, Renal dysplasia, Pulmonary hypoplasia, Death in infancy, Median cleft l... |
OMIM:241800 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cleft palate, Hypospadias, Short philtrum, Ventricular septal defect, Thin ... |
OMIM:300712 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Cleft upper lip, Anal atresia, Atrial septal defect, Hypoplasia of penis, Cleft ... |
ORPHA:2008 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Emanuel Syndrome |
|
High palate, Anal atresia, Aortic valve stenosis, Atrial septal defect, Cleft palate, Recurrent r... |
OMIM:609029 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:193670 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal cardiac septum morphology, High, narrow palate, Cleft palate, Renal agenesis, Long philt... |
OMIM:618494 |
Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Abnormality of the pulmonary vasculature, Cleft palate, Recurrent urinary tract ... |
ORPHA:33001 |
Halperin-Birk Syndrome |
|
High palate, Death in childhood, Perimembranous ventricular septal defect, Thick vermilion border |
OMIM:618651 |
Cat Eye Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... |
OMIM:115470 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Short stature, Microphthalmia, Hearing impairment, Agenesis of corpus ... |
OMIM:614583 |
Microphthalmia, Syndromic 13 |
|
Abnormal pinna morphology, Anteverted ears, Short stature, Microphthalmia |
OMIM:300915 |
Fetal Encasement Syndrome |
|
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot |
OMIM:613630 |
Serkal Syndrome |
|
Pulmonic stenosis, Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Renal agen... |
ORPHA:139466 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal... |
OMIM:614886 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Peripheral pulmonary artery stenosis, Unilateral renal agenesis, Small bowe... |
ORPHA:90348 |
Pallister-Hall Syndrome |
|
Cleft upper lip, Anal atresia, Distal urethral duplication, Cleft palate, Micropenis, Hydroureter... |
OMIM:146510 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Tooth malposition, Micropenis, Unilateral renal agenesis, Dilated cardiomyopathy, Renal hypoplasi... |
OMIM:616541 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Viss Syndrome |
|
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... |
OMIM:619472 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Hypoplastic aortic arch, Open mouth |
ORPHA:457284 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Abnormal cardiac septum morphology, Unilateral renal agenesis, Single ventricle,... |
OMIM:308050 |
Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Unilateral renal agenesis, Micropenis |
OMIM:308750 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... |
OMIM:217085 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... |
OMIM:618969 |
Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Horseshoe kidney, Double outl... |
OMIM:214800 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Cleft palate, Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Aganglion... |
OMIM:308205 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Short nose, Hypoplasia of penis, Microphthalmia |
ORPHA:2547 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Long philtrum... |
OMIM:612863 |
Seckel Syndrome 2 |
|
Short stature, Small for gestational age, Cerebellar hypoplasia, Microphthalmia, Growth delay |
OMIM:606744 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High palate, Peripheral pulmonary artery stenosis, Atrial septal defect, Triangular mouth, Pulmon... |
OMIM:617506 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Renal agenesis, Hypospadias,... |
ORPHA:1335 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level |
OMIM:618048 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Tetralogy of Fallot, Renal hypoplasia, Median cleft lip |
OMIM:617926 |
Congenital Toxoplasmosis |
|
Hearing impairment, Intrauterine growth retardation, Failure to thrive in infancy, Microphthalmia |
ORPHA:858 |
Meckel Syndrome, Type 8 |
|
Short nose, Anophthalmia, Microphthalmia |
OMIM:613885 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Duodenal Atresia |
|
Duodenal atresia, Abnormality of the pulmonary artery |
ORPHA:1203 |
Aortic Aneurysm, Familial Thoracic 10 |
|
High palate, Dental crowding, Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneur... |
OMIM:617168 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619824 |
Restrictive Dermopathy |
|
Narrow mouth, Atrial septal defect, Hypospadias, Ureteral duplication, Dextrocardia, Patent ductu... |
ORPHA:1662 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Micr... |
OMIM:615181 |
Immunodeficiency 27A |
|
Increased circulating IgM level, Increased circulating IgG level |
OMIM:209950 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Duodenal atresia, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Vent... |
ORPHA:464311 |
Mckusick-Kaufman Syndrome |
|
High palate, Ectopic anus, Anal atresia, Urogenital sinus anomaly, Atrial septal defect, Hypoplas... |
ORPHA:2473 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta |
ORPHA:101028 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Bifid uvula... |
OMIM:617660 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Micropenis, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Ventric... |
OMIM:617159 |
Craniofacial Microsomia |
|
Cleft upper lip, Wide mouth, Transverse facial cleft, Cleft palate, Renal agenesis, Multicystic k... |
OMIM:164210 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cleft palate, Unilateral... |
OMIM:213980 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, ... |
OMIM:300166 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, High, narrow palate, Cleft palate, Delayed eruption of teeth, Coarctation ... |
ORPHA:2780 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Microphthalmia, Growth delay, Hearing impairment, Intrauterine growth ... |
OMIM:610756 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Aminopterin/Methotrexate Embryofetopathy |
|
Cleft palate, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Situs inv... |
ORPHA:1908 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septal defect, Rena... |
ORPHA:75389 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Ventricular septal defect, Congenital muscular torticollis, Webbed neck, Spina bifida... |
ORPHA:2345 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Dysplastic pulmonary valve, Hypospadias, Recurrent urinary tract infections, Ventricu... |
OMIM:619103 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Anteriorly placed an... |
OMIM:600057 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Optic disc pallor, Short stature, Cerebellar hypoplasia, Microphthalmia |
OMIM:251270 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Sensorineural hearing impairment, Failure to thrive, Abnormality of the ear, Small for gestationa... |
OMIM:214150 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Duodenal atresia, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Vent... |
ORPHA:464306 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Growth delay, Postnatal growth retardation, Bilateral microphthalmos, Severe sensorineural hearin... |
OMIM:600122 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Cleft palate, Ventricular septal defect, Widely spaced teeth, Absent cupid's bow, Everted upper l... |
ORPHA:513456 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Esophageal varix, Stag... |
OMIM:619534 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Recombinant 8 Syndrome |
|
Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cleft palate, Abnormality of the dent... |
ORPHA:96167 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Tetralogy of ... |
OMIM:174300 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:619924 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Long philtrum, Patent ductus arteriosus, Hydrone... |
ORPHA:250989 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Bresek Syndrome |
|
Low-set ears, Protruding ear, Optic nerve hypoplasia, Neonatal death, Microphthalmia, Growth dela... |
ORPHA:85284 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Ventricular septal defect, Pneumonia, Abnormal heart morphology, Nephrolithiasis, ... |
ORPHA:353281 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Intrauterine growth retardation, Decreased body weight, Short stat... |
OMIM:609053 |
Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Micropenis, Renal agenesis, Tracheoesophageal fistula, Coarctation of aorta, Ab... |
OMIM:300514 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... |
OMIM:253800 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cleft palate, Micropenis, Hypospadias, Intracranial hemorrhage, Short philt... |
ORPHA:163979 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating IgG level |
OMIM:243700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
3C Syndrome |
|
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... |
ORPHA:7 |
Adams-Oliver Syndrome 2 |
|
Protruding ear, Cerebellar hypoplasia, Optic atrophy, Microphthalmia, Low-set ears, Retrocerebell... |
OMIM:614219 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level |
OMIM:618495 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide mouth, Cleft palate, Enlarged kidney, Ventricular septal defect, Submucous cleft lip, Duplic... |
OMIM:312870 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... |
ORPHA:91387 |
Aortic Aneurysm, Familial Thoracic 12 |
|
High palate, Bicuspid aortic valve, Ascending aortic dissection, Aortic root aneurysm, Ascending ... |
OMIM:619825 |
Perlman Syndrome |
|
Long upper lip, Nephrogenic rest, Nephroblastomatosis, Nephroblastoma, Distal ileal atresia, Tent... |
OMIM:267000 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
High palate, Increased urine alpha-ketoglutarate concentration, Gingival overgrowth, Atrial septa... |
OMIM:220500 |
Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:619281 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Delayed eruption of teeth, Bifid uvula, Hypercalciuria, Renal dysplasia, Cleft hard... |
OMIM:300990 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Arteria lusoria, Thin lower lip ve... |
ORPHA:221139 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Dandy-Walker malformation, Microphthalmia |
OMIM:164180 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Muscular ventricular septal defect, Delayed eruption of teeth, Ventricul... |
OMIM:619503 |
Baraitser-Winter Syndrome 1 |
|
Sensorineural hearing impairment, Failure to thrive, Short stature, Overfolded helix, Microphthal... |
OMIM:243310 |
Noonan Syndrome 9 |
|