banner
Genes Phenotypes Help, News, Blog

Gene: Cfc1 MGI:109448

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cryptic, EGF-CFC family member 1
Synonyms:
cryptic,  b2b970Clo

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cfc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cfc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376

The table below shows human diseases predicted to be associated to Cfc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Hepatomegaly, Portal hypertensi... OMIM:208540
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... OMIM:314390
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... ORPHA:494424
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary veno... ORPHA:1120
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai... OMIM:613759
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... OMIM:601186
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Atelectasis, Rectal prolapse, Recurrent p... OMIM:613177
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Cleft palate, Abnormal aortic morphology,... ORPHA:1926
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve m... ORPHA:1759
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia ORPHA:89844
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... OMIM:619418
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pul... ORPHA:1335
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis, Coarcta... OMIM:217085
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis ORPHA:306550
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... OMIM:115197
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Velocardiofacial Syndrome
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... OMIM:192430
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... OMIM:600001
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia ORPHA:2863
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Macrocytic anemia OMIM:620071
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Mediastinal lymphadenopathy, Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis OMIM:234810
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, High palate, Gastroesophageal... OMIM:620070
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate OMIM:617616
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Asplenia,... ORPHA:99776
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... OMIM:618316
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Hypoplastic left heart, P... OMIM:220210
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Hypoplastic left heart, Polysplenia OMIM:610543
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula... OMIM:614294
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... OMIM:619123
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect OMIM:619306
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis OMIM:244400
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, High palate, Transposition of the great arte... OMIM:201000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... ORPHA:3405
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Glossoptosis OMIM:614876
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa... OMIM:620210
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Patent ductus ... OMIM:620005
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... OMIM:249000
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:614034
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Velopharyngeal insufficiency, Abnor... ORPHA:363444
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Anomalous... OMIM:616368
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... ORPHA:3304
Monosomy 13Q34
Hematochezia, Common atrium, Hepatic steatosis, Pulmonic stenosis ORPHA:96168
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Rubinstein-Taybi Syndrome 1
High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Gastroesophageal... OMIM:180849
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect, High palate OMIM:618354
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
Distal Duplication 17Q
Accessory spleen, High palate, Cleft palate, Abnormal heart morphology ORPHA:3379
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... ORPHA:101028
Thoracoabdominal Syndrome
Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries... OMIM:313850
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... OMIM:615524
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... OMIM:612946
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... OMIM:617877
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate OMIM:618804
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, ... ORPHA:564
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Cleft palate, Abnormal aortic morphology, Tetralogy of Fallot, Abnorma... ORPHA:1166
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... OMIM:616589
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Nemaline Myopathy 9
High palate, Ventricular septal defect, Cleft palate OMIM:615731
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... OMIM:601612
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... ORPHA:1780
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl... OMIM:618021
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... ORPHA:2257
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Patent ductus... OMIM:117550
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return ORPHA:99105
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Gastroesophageal r... OMIM:617746
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin... ORPHA:391641
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Ververi-Brady Syndrome
High palate, Transposition of the great arteries OMIM:617982
Desmosterolosis
Patent ductus arteriosus, Total anomalous pulmonary venous return, Cleft palate OMIM:602398
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... ORPHA:99104
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagia, Hypertrop... OMIM:616276
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Poland Syndrome
Dextrocardia OMIM:173800
Carpenter Syndrome
Patent ductus arteriosus, Polysplenia ORPHA:65759
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... ORPHA:401935
You-Hoover-Fong Syndrome
Coarctation of aorta, Cleft palate, Double aortic arch, Vascular ring OMIM:616954
Stormorken Syndrome
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, Hy... OMIM:185070
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Mirror Movements 3
Situs inversus totalis OMIM:616059
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... ORPHA:2326
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia... ORPHA:290
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... ORPHA:449400
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Catel-Manzke Syndrome
Atrial septal defect, Glossoptosis, Ventricular septal defect, Cleft palate ORPHA:1388
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Bronc... OMIM:230900
Holoprosencephaly 11
Cleft palate, Polysplenia OMIM:614226
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, High palate OMIM:614846
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Patent ductus arteriosus, Abnormality of the lymphatic system, Ab... ORPHA:487796
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Desmosterolosis
Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Submucous cleft hard palate, Anom... ORPHA:35107
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... OMIM:619769
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic... OMIM:300972
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... OMIM:616898
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... OMIM:618624
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, ... ORPHA:199241
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Exaggerated median to... OMIM:312870
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Gastrointestinal dysmotility, Atrial septal ... OMIM:619189
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia OMIM:243605
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
14Q11.2 Microdeletion Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... ORPHA:261197
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... ORPHA:2315
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia ORPHA:3469
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun... OMIM:236680
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Alg12-Cdg
Recurrent respiratory infections, Intestinal malrotation, Recurrent pharyngitis, Muscular ventric... ORPHA:79324
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Abn... ORPHA:2059
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, Intracranial hemorrhage, Leukop... OMIM:617053
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... OMIM:606003
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Cholelithiasis, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Dilated cardiomyopathy, Hyp... ORPHA:66634
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Autosomal Recessive Spondylocostal Dysostosis
Cleft palate, Anomalous pulmonary venous return ORPHA:2311
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... OMIM:615508
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... ORPHA:141127
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... OMIM:600987
Alg3-Cdg
Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch, Cardiomyopa... ORPHA:79321
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... OMIM:616652
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... ORPHA:1667
Marden-Walker Syndrome
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... OMIM:248700
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia ORPHA:49827
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Renpenning Syndrome
Heterotaxy, Cleft palate, High, narrow palate, Anal atresia ORPHA:3242
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, High palate, Total anomalous pulmonary venous return OMIM:609945
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... OMIM:618846
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Pyloric stenosis, Anal atresia OMIM:618419
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta OMIM:618929
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Malrotation of small bowel, Biliary tract abnormalit... OMIM:194190
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353281
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Megarectum, Leukopenia, Pulmonic stenosis, Pulmonary art... OMIM:301056
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Cleft palate, Coarctation of aorta OMIM:615502
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis OMIM:240300
Cranioectodermal Dysplasia 2
Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Biliary c... OMIM:613610
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... ORPHA:1329
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... ORPHA:2970
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... ORPHA:90308
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Cleft palate, Ectopic anus ORPHA:2476
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... ORPHA:284169
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... OMIM:269200
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Floating-Harbor Syndrome
Celiac disease, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persist... OMIM:136140
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Fanconi Anemia, Complementation Group W
Polysplenia, Duodenal atresia OMIM:617784
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis ORPHA:1296
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D... OMIM:617063
Heart And Brain Malformation Syndrome
High, narrow palate, Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux OMIM:616920
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Atelis Syndrome 1
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, High palate, Atrial septal defect,... OMIM:620184
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic... OMIM:616166
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:94066
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ... OMIM:618223
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Esophageal diverticulum, Hamartoma of tongue, Complete atrioventricular canal defect, Cleft palat... OMIM:617925
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... OMIM:601005
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Czeizel-Losonci Syndrome
High palate, Pulmonary hypoplasia, Dextrocardia, Tracheoesophageal fistula ORPHA:2437
Floating-Harbor Syndrome
Celiac disease, Tetralogy of Fallot, Coarctation of aorta, Gastroesophageal reflux, Atrial septal... ORPHA:2044
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, High palate, Pulmon... ORPHA:314588
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Knobloch Syndrome
Lymphangioma, Patent ductus arteriosus, Pyloric stenosis, Dextrocardia ORPHA:1571
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect ORPHA:228399
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, High, narrow palate, Cleft palate, Coarctation of aorta, Abnormal hear... OMIM:618494
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... ORPHA:3474
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... OMIM:301043
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd... ORPHA:96092
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect OMIM:613730
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Acute lymphobla... OMIM:280000
Isolated Splenogonadal Fusion
Ectopia of the spleen, Polysplenia ORPHA:457083
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353277
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Gastroesophageal reflux, Patent foramen ovale OMIM:617182
Giant Cell Arteritis
Glossitis, Pericarditis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent phary... ORPHA:397
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Situs inversus totalis, Cleft palate, Pulmonary artery atresia, Tetral... ORPHA:1908
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Fanconi Anemia, Complementation Group B
Aplastic anemia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Abnorma... OMIM:300514
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot OMIM:613630
Mullegama-Klein-Martinez Syndrome
Cleft palate, Coarctation of aorta, Submucous cleft of soft and hard palate, Hypoplastic left hea... OMIM:301022
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... ORPHA:33276
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Biliary tract abnormality,... OMIM:268300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, High palate ORPHA:476126
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri... ORPHA:452
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... ORPHA:85202
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia, Dysphagia OMIM:616867
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal reflux, Pulmonic stenosis, Atri... OMIM:619149
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, High, narrow palate, Cleft... ORPHA:373
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lym... ORPHA:2331
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Median cleft lip and palate, Th... ORPHA:699
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... ORPHA:163956
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615505
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Proteus Syndrome
Splenomegaly, Lymphangioma, Venous malformation OMIM:176920
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Gastroesophageal reflux, Neu... OMIM:614857
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... OMIM:615355
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, High palate OMIM:611174
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Prominent superficial veins, Anomalous branches of internal carotid ... ORPHA:363705
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Dextrocardia, Cleft palate ORPHA:220493
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, High palate, Atrial... OMIM:618142
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, Hypoplasi... OMIM:617022
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia ORPHA:1381
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal varix, ... OMIM:616028
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Aglossia OMIM:241310
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag... OMIM:619909
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, P... OMIM:300963
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Cleft soft pala... OMIM:619503
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... ORPHA:7
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... ORPHA:2962
Digeorge Syndrome
High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, High palate, Gastroeso... OMIM:188400
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegal... OMIM:614576
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect OMIM:314320
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneu... ORPHA:1662
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thy... ORPHA:567
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... OMIM:175050
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Stillbirth, Transposition of t... OMIM:256520
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno... OMIM:614300
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Vater/Vacterl Association
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... OMIM:192350
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... ORPHA:2461
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect ORPHA:3369
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... OMIM:600460
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Hep... ORPHA:84064
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Gastroesopha... OMIM:210710
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... OMIM:617159
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Interrupte... OMIM:300712
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag... OMIM:301044
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... ORPHA:508488
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Patent... ORPHA:1708
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... OMIM:614868
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect, H... ORPHA:1842
17Q12 Microduplication Syndrome
Atrial septal defect, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Temple-Baraitser Syndrome
Atrial septal defect, Gastroesophageal reflux, Pulmonic stenosis OMIM:611816
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Cleft palate ORPHA:93946
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... OMIM:614976
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615500
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Joubert Syndrome 18
Lobulated tongue, Intrahepatic biliary atresia, Ventricular septal defect, Cleft palate OMIM:614815
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Pseudoaminopterin Syndrome
Asplenia, High palate, Patent foramen ovale ORPHA:221120
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... OMIM:615102
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f... OMIM:615668
Charge Syndrome
Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Aplasia/Hypoplasia... OMIM:214800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Cong... OMIM:611812
Inverted Duplicated Chromosome 15 Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Gastroesophageal reflux ORPHA:466926
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect OMIM:602501
Neurooculorenal Syndrome
Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of... OMIM:620305
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ... ORPHA:40366
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Isolated Klippel-Feil Syndrome
Anal atresia, Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:2345
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Cleft palate, Coarctation of aorta, Atrial septal def... ORPHA:2008
Leopard Syndrome 1
Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmonic stenosis, S... OMIM:151100
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Intestinal malrotation, Coarctation of aorta,... OMIM:617602
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Even-Plus Syndrome
Atrial septal defect, High palate, Patent foramen ovale, Anal atresia OMIM:616854
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, High palate,... OMIM:618282
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr... OMIM:249420
Megalencephaly
Atrial septal defect ORPHA:2477
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Umbilical hernia, Abnormal heart morphology ORPHA:352490
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Intestinal malro... OMIM:609029
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Frontoocular Syndrome
Atrial septal defect, High palate, Pulmonic stenosis OMIM:605321
3P25.3 Microdeletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft... ORPHA:435638
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Anemia, In... ORPHA:163979
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Micr... OMIM:610198
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:616481
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Hi... OMIM:251290
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... OMIM:616145
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas... OMIM:202650
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis OMIM:615630
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:614935
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate OMIM:609654
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He... OMIM:612541
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... OMIM:617300
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal refl... ORPHA:329224
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, High palate ORPHA:1035
Abruzzo-Erickson Syndrome
Atrial septal defect, Cleft palate ORPHA:921
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... ORPHA:2473
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Woods Syndrome
Ventricular septal defect OMIM:615236
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m... ORPHA:991
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Atrial septal defect, Patent for... OMIM:610883
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... OMIM:602782
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Aganglionic megacolon, Cleft palate, Atrial ... OMIM:614749
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... ORPHA:1199
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect ORPHA:2256
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Recurrent pneumonia, Submucous cl... OMIM:619314
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Ventricular septal defect, Recurrent pneumonia, Bicuspid aortic valve OMIM:617751
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Thrombocy... OMIM:619980
Tetrasomy 9P
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Jaundice, B... ORPHA:3310
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed anus, Bone ma... OMIM:615272
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency OMIM:613680
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac septum morphology, Volvulus, Pa... OMIM:615009
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu... OMIM:300166
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... OMIM:614261
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... OMIM:613808
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Cleft palate ORPHA:398156
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interrupted aortic arc... ORPHA:250989
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate OMIM:619895
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Recurrent respiratory infections, Patent foramen ovale, Patent ductus arteriosus, C... ORPHA:17
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Gastro... ORPHA:457193
Stevenson-Carey Syndrome
Atrial septal defect, Gastroesophageal reflux, Left superior vena cava draining to coronary sinus OMIM:611961
Thanatophoric Dysplasia Type 2
Encephalocele, Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:93274
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... OMIM:265120
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P... OMIM:618950
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr... ORPHA:96167
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:615583
Zechi-Ceide Syndrome
Atrial septal defect, Cleft palate, Abnormal heart morphology ORPHA:217017
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Cleft palate OMIM:611134
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Bifid uvula, Cleft palate OMIM:608572
Jansen-De Vries Syndrome
Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno... OMIM:614114
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Coffin-Siris Syndrome 6
Atrial septal defect, High, narrow palate, Gastroesophageal reflux, Cleft palate OMIM:617808
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Splen... OMIM:617303
Filippi Syndrome
Ventricular septal defect OMIM:272440
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, High palate, Atrial septal defect, Tetralogy... OMIM:612582
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Anal atresia OMIM:273395
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, High palate, Pulmonary h... OMIM:616866
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Cleft palate, Hypertrophi... OMIM:612938
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Aspiration ... OMIM:619167
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:261190
Aase-Smith Syndrome I
Ventricular septal defect, Cleft palate OMIM:147800
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, High palate, Pulmonary artery atresia, Paten... OMIM:620113
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Esophageal atresia, Cleft soft palate OMIM:614526
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Aganglionic m... ORPHA:261537
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, Submucous cleft hard p... OMIM:612863
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, Asplenia, Pyloric stenosis,... ORPHA:2152
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... ORPHA:96170
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Umbil... ORPHA:536545
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation ORPHA:2143
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Ogden Syndrome
High, narrow palate, Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula ORPHA:77298
Trisomy 13
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,... ORPHA:3378
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Myeloid leukemia, Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227990
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Patent ductus arteriosus, Re... ORPHA:79076
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Chronic gastritis, Internal carotid artery dissection, Bicuspid... OMIM:150230
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect OMIM:601357
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... ORPHA:60041
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnor... ORPHA:485405
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Ventricular septal defect OMIM:617635
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Medial calcification of large arteries, Villous atrophy, Autoimmune ... ORPHA:391487
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis OMIM:618205
Tarp Syndrome
Meckel diverticulum, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptosis, High palate... OMIM:311900
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227982
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:618870
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Atrial septal defect OMIM:220500
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Gastrointestinal ... ORPHA:436252
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Atrial... OMIM:244300
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation, High palate OMIM:278250
Lujan-Fryns Syndrome
Atrial septal defect, High palate ORPHA:776
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:52055
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jaundice, Cholestatic liver diseas... OMIM:613404
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:52
Myopathy With Extrapyramidal Signs
Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect OMIM:615673
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym... ORPHA:1655
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... OMIM:620025
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios... ORPHA:354
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect OMIM:309520
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pyloric steno... ORPHA:261494
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss... ORPHA:1900
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, High palate, Recurrent ... OMIM:300472
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Cleft palate OMIM:617201
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, High palate, Patent foramen o... ORPHA:369891
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Gastroesophageal reflux, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:616730
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Gastroesophageal reflux, Ventricular septal defect, Cleft palate ORPHA:513456
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... OMIM:615582
Lymphatic Malformation 6
Splenomegaly, Pleural effusion, Varicose veins, Gastroesophageal reflux, Chylothorax, Atrial sept... OMIM:616843
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial effusion, Jaundice, Dilated cardi... ORPHA:26793
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia OMIM:614961
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Venou... ORPHA:60015
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Pate... OMIM:601808
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis, Atrial septal defect, Peripheral pulmonary arter... ORPHA:436003
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cle... ORPHA:1790
8P11.2 Deletion Syndrome
Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mitral valve prolapse, H... ORPHA:251066
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cleft palate, Anteri... OMIM:146510
Fanconi Anemia, Complementation Group F
Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellularity, Atrial sept... OMIM:603467
King-Denborough Syndrome
High palate, Ventricular septal defect OMIM:619542
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... ORPHA:457279
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, High palate, Atrial septal defect ORPHA:397709
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Bone marrow hypocellularity, Neutropenia, Atrial septal defect, Patent... OMIM:609053
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Pulmonic stenosis, Dysphagia, Atrial septal defect, Hype... OMIM:613706
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Gast... ORPHA:453499
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... ORPHA:404440
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... OMIM:153400
Opitz Gbbb Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palate, Abn... ORPHA:2745
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, High palate, Neutropenia, Atrial septal defect, Recurrent lower respira... OMIM:618005
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect, Ectopic anus, Cleft palate ORPHA:2549
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect,... OMIM:617660
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Chromosome 3Pter-P25 Deletion Syndrome
Gastroesophageal reflux, Atrioventricular canal defect, High palate, Anal atresia OMIM:613792
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect OMIM:617061
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... OMIM:269860
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi... OMIM:309801
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale OMIM:620075
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Lymphangioma, Arteriovenous malformation ORPHA:137608
Cooper-Jabs Syndrome
Anteriorly placed anus, Ventricular septal defect ORPHA:1488
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Cleft ... OMIM:613309
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, Pulmonary hyp... OMIM:616897
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Mitral valve prolaps... ORPHA:93932
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort... ORPHA:96334
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Pyloric stenosi... ORPHA:261330
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Recurrent respiratory infections, High palate, Atrial septal defect, Hypertrophic c... OMIM:619383
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... OMIM:609942
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Pulmonary hypopl... ORPHA:1692
Whim Syndrome
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Lymphadenitis, Atele... ORPHA:51636
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Cardiomegaly OMIM:618798
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation, Cleft palate OMIM:217100
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, High palate, Ventricular septal defect OMIM:617452
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Acute lymphobla... ORPHA:1052
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Ventricular septal defect, Dysphagia, Abnormal heart morphology ORPHA:494344
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Cle... OMIM:610443
Kabuki Syndrome 2
Cleft palate, Coarctation of aorta, High palate, Pulmonic stenosis, Atrial septal defect, Atriove... OMIM:300867
Poland Syndrome
Encephalocele, Dextrocardia, Acute leukemia, Abnormality of the liver, Atrial septal defect, Spin... ORPHA:2911
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosis, Gastroeso... OMIM:300998
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, High palate, Atrial... ORPHA:230851
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect OMIM:610832
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... ORPHA:124
Lowry-Maclean Syndrome
High, narrow palate, Pyloric stenosis, Midgut malrotation, Cleft palate, Coarctation of aorta, At... ORPHA:2409
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypopl... OMIM:100300
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:615879
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Peters Plus Syndrome
Intestinal fistula, Patent ductus arteriosus, Bicuspid pulmonary valve, Cleft palate, Abnormal pu... ORPHA:709
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septu... ORPHA:96147
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Abnorma... OMIM:222470
Chromosome 9P Deletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb... OMIM:158170
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Cleft pala... ORPHA:2369
Cutis Laxa, Autosomal Dominant 1
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Macroglossia, ... OMIM:614609
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia OMIM:618325
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu... OMIM:301030
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Pyloric stenosis, Paten... OMIM:235730
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, High palate, Ventricular septal defect ORPHA:505237
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:610733
Thymic Carcinoma
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy ORPHA:99868
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Esophageal atresia, Ventricular septal defect, Cleft palate OMIM:610536
Trisomy 1Q
Anal atresia, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:261344
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Gastr... OMIM:616449
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, High palate, Atrial septal defect, Left ventricul... ORPHA:79330
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Ventricular septal defect ORPHA:3078
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Galloway-Mowat Syndrome 7
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:618348
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Cleft palate, High pa... OMIM:130720
19P13.3 Microduplication Syndrome
Gastroesophageal reflux, Ventricular septal defect, Cleft palate ORPHA:447980
Kury-Isidor Syndrome
High palate, Ventricular septal defect OMIM:619762
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:611553
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... ORPHA:1677
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Cleft palate ORPHA:79113
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... OMIM:118450
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta ORPHA:268249
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Patent ductus arteriosus after birth at term, Gastroesophageal ... ORPHA:251061
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
Costello Syndrome
Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Gastroesophageal r... ORPHA:3071
Varicose Veins
Varicose veins OMIM:192200
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, High palate, Ventricular septal defect, Patent foramen ovale OMIM:270450
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
19P13.12 Microdeletion Syndrome
Atrial septal defect, Hepatic steatosis, Ventricular septal defect, Cleft palate ORPHA:254346
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Cleft palate, Anter... OMIM:616894
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Malabsorption, Pyloric stenosis, Jaundice, High palate ORPHA:912
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Abnormal heart morp... ORPHA:505248
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Cleft palate ORPHA:1770
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect, Cleft palate OMIM:106260
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Bicuspid aortic ... OMIM:619720
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Alazami Syndrome
Atrial septal defect ORPHA:319671
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm ORPHA:96201
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Gastroesophageal reflux, High palate, Mitral valve prolapse OMIM:300986
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Rectovaginal fistula, Atrial septal defect, A... OMIM:300707
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces OMIM:617190
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hy... ORPHA:84
Al Kaissi Syndrome
Atrial septal defect, High, narrow palate OMIM:617694
Short Stature-Micrognathia Syndrome
High palate, Ventricular septal defect, Cleft palate, Gastroesophageal reflux OMIM:617164
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Distal Xq28 Microduplication Syndrome
High palate, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foram... ORPHA:293939
C Syndrome
Hepatomegaly, Patent ductus arteriosus, High palate, Ventricular septal defect OMIM:211750
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongu... ORPHA:464738
Perlman Syndrome
Distal ileal atresia, Volvulus, Pancreatic islet-cell hyperplasia, Interrupted aortic arch OMIM:267000
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Tarp Syndrome
Extramedullary hematopoiesis, Cleft palate, Tongue nodules, Glossoptosis, Pulmonary hypoplasia, A... ORPHA:2886
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Intestinal malrotation, Coarctation of aorta, High palate, Atrial sept... OMIM:244450
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... ORPHA:500
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, High palate, Recurrent gastroenteritis, Atrial... ORPHA:363528
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Joubert Syndrome 14
Intracranial hemorrhage, Ventricular septal defect, Cleft palate OMIM:614424
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Pyloric sten... ORPHA:2308
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... ORPHA:97289
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Cleft palate, High pa... OMIM:610759
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... OMIM:619103
Kleefstra Syndrome 1
Recurrent respiratory infections, Protruding tongue, Conotruncal defect, Macroglossia, Gastroesop... OMIM:610253
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Cleft palate ORPHA:459061
Fetal Alcohol Syndrome
Atrial septal defect, Cleft palate ORPHA:1915
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... ORPHA:209905
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Gastroesophageal reflux ORPHA:261279
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc... ORPHA:79329
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ... ORPHA:2072
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Coarc... OMIM:164210
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Narrow palate, Gastroe... OMIM:605039
Bdv Syndrome
Atrial septal defect OMIM:619326
Alg9-Cdg
Hepatomegaly, Villous atrophy, Ventricular septal defect, Pericardial effusion, Abnormal lung lob... ORPHA:79328
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Patent ductus arteriosus, Aortic root aneurysm, Rectovestibular fistula, High pala... ORPHA:280633
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate OMIM:612530
Radio-Tartaglia Syndrome
Ventricular septal defect, High, narrow palate, High palate, Gastroesophageal reflux, Dysphagia OMIM:619312
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Patent ductus arteriosus, Cleft palate, Gastroesophageal reflux, High palate, Pulm... OMIM:614080
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia,... OMIM:274000
Charge Syndrome
Aortic arch aneurysm, Abnormal soft palate morphology, Patent ductus arteriosus, Tracheoesophagea... ORPHA:138
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, High palate, Patent ductus arteriosus, Annular pancreas OMIM:618162
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Lymphatic Malformation 13
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death OMIM:620244
Proteus-Like Syndrome
Venous insufficiency, Splenomegaly, Thymus hyperplasia, Bronchogenic cyst ORPHA:2969
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... OMIM:263520
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, High... OMIM:214100
Noonan Syndrome 13
Atrial septal defect, Gastroesophageal reflux, High palate, Mitral valve prolapse OMIM:619087
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Pulmonic stenosis, Aortic val... OMIM:277600
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:251038
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale, Cleft palate, Oral-pharyngeal dysphagia OMIM:619184
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular volume, High palate... ORPHA:261250
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614207
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper respiratory ... ORPHA:1465
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, P... OMIM:619575
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect OMIM:617360
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, S... OMIM:608779
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cleft palate ORPHA:2728
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections, High palate OMIM:620194
Distal Deletion 19P
Cleft palate, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Patent ductus arteriosus, Cleft palate, Atrial septal defect, B... OMIM:300968
White-Sutton Syndrome
Patent ductus arteriosus, Cleft palate, High palate, Gastroesophageal reflux, Atrial septal defec... OMIM:616364
Doors Syndrome
Cleft palate, Sirenomelia, Narrow palate, High palate, Gastroesophageal reflux, Aspiration pneumo... ORPHA:79500
Duane-Radial Ray Syndrome
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Vascular dilatation, Atrial sept... OMIM:607323
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Re... OMIM:618268
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve pr... ORPHA:276413
16P13.11 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Cleft palate ORPHA:261236
Distal Deletion 10Q
Patent ductus arteriosus, Cleft palate, High palate, Atrial septal defect, Spina bifida occulta, ... ORPHA:96148
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Intellectual Developmental Disorder, Autosomal Dominant 53
Gastrointestinal dysmotility, Ventricular septal defect, Intestinal malrotation, Duodenal atresia OMIM:617798
Apert Syndrome
Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Cleft palate, ... OMIM:101200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, Aortic root aneurysm, A... OMIM:245600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Umbilical hernia, Hepatic failure, Recurrent respiratory infections OMIM:619758
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... OMIM:135500
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate, Gastroesophageal ... OMIM:613457
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Zaki Syndrome
High palate, Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus, High palate OMIM:605130
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Holoprosencephaly
Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve morphology, Abno... ORPHA:2162
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Hi... ORPHA:96191
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Pseudobulbar p... OMIM:125310
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Vici Syndrome
Lymphopenia, Recurrent respiratory infections, Dilated cardiomyopathy, Decreased proportion of CD... OMIM:242840
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm, Submucous cleft hard palate OMIM:618891
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Gastroesophageal reflux, Dysphagia, Atrial septal defect,... ORPHA:70
Unilateral Polymicrogyria
Pseudobulbar paralysis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, High palate OMIM:609625
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Elevated circulating as... OMIM:614866
Opitz Gbbb Syndrome
Ventricular septal defect, Rectourethral fistula, Cleft palate, High palate, Gastroesophageal ref... OMIM:300000
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Patent f... OMIM:618454
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Ascending aortic dissection, ... OMIM:608328
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hi... OMIM:163950
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Patent duc... OMIM:616682
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Double inlet left ventricle, High palate, Atrial septal defect, Tetralo... OMIM:619869
Livedoid Vasculopathy
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... ORPHA:542643
Lethal Kniest-Like Dysplasia
Atrial septal defect, Cleft palate ORPHA:2347
Focal Dermal Hypoplasia
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Abnormal ca... ORPHA:2092
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation OMIM:222448
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation, Spinal dysraphism OMIM:612918
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmonic stenosis, ... OMIM:245150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim... ORPHA:508498
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Gastroesophageal reflux, High palate OMIM:620242
Ramos-Arroyo Syndrome
Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Smooth tongue, Atrial septal defect ORPHA:1051
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Atrial septal defe... OMIM:147791
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation, Abnormal heart morphology,... ORPHA:369837
Genitopatellar Syndrome
Atrial septal defect, Gastroesophageal reflux, Pulmonary hypoplasia ORPHA:85201
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Phelan-Mcdermid Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Gastroesophageal reflux OMIM:606232
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Cleft palate, High palate, Atrial septal defec... OMIM:309500
Codas Syndrome
Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A... OMIM:600373
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Autoimmune th... OMIM:147920
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve... ORPHA:536532
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Reduced alpha/beta synthesis ratio, Hypochromic mic... OMIM:301040
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Submucous ... ORPHA:3047
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Splenomeg... OMIM:270400
Cerebrocostomandibular Syndrome
Anal stenosis, Ventricular septal defect, Cleft soft palate, Patent ductus arteriosus, Cleft pala... OMIM:117650
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Ulnar-Mammary Syndrome
Pyloric stenosis, Ectopic anus, Ventricular septal defect, Anal atresia ORPHA:3138
Robinow Syndrome
Ventricular septal defect, Bifid tongue, Abnormal heart morphology, Coarctation of aorta, Ankylog... ORPHA:97360
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Rec... OMIM:607143
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... ORPHA:97214
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft... OMIM:300373
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate, Aortic aneurysm OMIM:150250
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Incre... OMIM:619525
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Leukemia, Dilation of Virchow-Robin spaces OMIM:619951
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:352665
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... OMIM:617107
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... OMIM:227645
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Recurrent low... OMIM:619229
Lateral Meningocele Syndrome
High, narrow palate, High palate, Ventricular septal defect ORPHA:2789
Foix-Alajouanine Syndrome
Arteriovenous fistula, Myelopathy, Cervical myelopathy, Venous malformation ORPHA:79093
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cleft palate OMIM:257920
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal heart valve morphology, Abnormality of the spleen, Patent ductus a... ORPHA:1606
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate amin... OMIM:243800
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... ORPHA:2729
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... ORPHA:565
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Pulmona... ORPHA:137675
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Pneumothorax, Ascending tubular aorta aneurysm, Atrial septal defect, Hy... OMIM:617403
Clapo Syndrome
Lymphangioma, Varicose veins, Venous malformation ORPHA:168984
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale, Protruding tongue OMIM:619179
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Submucous cleft hard palate, High palate, Gastroesophageal reflux, Pulmonic stenosi... OMIM:115150
H Syndrome
Microcytic anemia, Malabsorption, Recurrent pharyngitis, Bronchiectasis, Hepatosplenomegaly, Lymp... ORPHA:168569
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Bifid uvula OMIM:619121
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent ductus arteriosus, Furrowed tongue, High palate, Gastroesophage... OMIM:616975
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection OMIM:618343
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, High, narrow palate, Mitral valve pr... ORPHA:193
Meige Disease
Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Intes... ORPHA:955
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Patent ductus arteriosus, High palate, Atrial septal defect, Aortic va... ORPHA:96121
Neurodevelopmental Disorder With Spasticity And Poor Growth
Recurrent respiratory infections, High, narrow palate, Patent ductus arteriosus, Gastroesophageal... OMIM:618076
Liposarcoma
Varicose veins ORPHA:69078
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... OMIM:187300
Mosaic Variegated Aneuploidy Syndrome 1
Cleft palate, Pulmonic stenosis, Atrial septal defect, Leukemia, Duodenal atresia OMIM:257300
Marshall-Smith Syndrome
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Recurrent upper respirator... OMIM:602535
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Patent foramen ovale ORPHA:542306
Cutis Laxa, Autosomal Recessive, Type Iic
Prominent superficial veins, Pyloric stenosis, Pneumothorax, Mitral valve prolapse, Biventricular... OMIM:617402
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Submucous cleft hard ... ORPHA:1340
Costello Syndrome
Ventricular septal defect, Pyloric stenosis, Pneumothorax, Mitral valve prolapse, Macroglossia, H... OMIM:218040
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Cleft palate, Abnormality of the pulmonary vasculature ORPHA:33001
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Protruding tongue, High... OMIM:612289
Penile Agenesis
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilatera... ORPHA:49
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Cleft soft palate OMIM:620183
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Glossoptosis, Aor... ORPHA:444077
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Cleft palate OMIM:178110
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Cleft palate, Coarctat... OMIM:139210
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Patent ductus arteriosus, Abn... ORPHA:818
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Abnormality of the gallbladder... ORPHA:280
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, P... OMIM:122470
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Protruding tongue OMIM:212066
Trisomy 18
Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa... ORPHA:3380
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... ORPHA:99226
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Thrombocytopenia, Anemia ORPHA:261323
Turner Syndrome
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... ORPHA:881
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arteriosus... OMIM:617140
Mucolipidosis Type Ii
Recurrent respiratory infections, Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomeg... ORPHA:576
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Bardet-Biedl Syndrome 20
Atrial septal defect, Pancreatitis OMIM:619471
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Dysphagia, Bilateral superior vena cava with no b... OMIM:618460
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... ORPHA:276280
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Anencephaly, Cleft palate, Pulmonary hypoplasia, Atrial septal defect, Occip... OMIM:616546
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Gastroesophageal reflux, A... ORPHA:464306
Rabson-Mendenhall Syndrome
Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, High palate, Atrial sep... ORPHA:769
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, High palate, Cirrhosis,... OMIM:300868
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Ventricular septal defect, Cleft palate ORPHA:251028
Microphthalmia, Syndromic 3
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Diphallia
Abnormality of the gastrointestinal tract, Duplicated colon, Rectoperineal fistula, Abnormal hear... ORPHA:227
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo... OMIM:610505
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal left ventricle... ORPHA:466791
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Ventricular septal defect, Gastroesophageal reflux OMIM:614653
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Cleft palate OMIM:272950
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Duodenal ulcer, Dysplastic aortic valve OMIM:605822
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Gastr... ORPHA:459070
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Patent ductus arteriosus, Gastroesophageal reflux, Aortic valve stenos... ORPHA:464311
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Leigh Syndrome
Ventricular septal defect, Gastrointestinal dysmotility, Dysphagia, Neutropenia, Hypertrophic car... ORPHA:506
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast... ORPHA:904
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... OMIM:607721
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Cleft palate, Ascending tubular aorta ane... ORPHA:536471
Gabriele-De Vries Syndrome
High palate, Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Distal Deletion 12Q
High, narrow palate, Patent ductus arteriosus, Esophageal atresia, Biliary atresia, Microglossia,... ORPHA:96149
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect OMIM:609460
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:251014
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... ORPHA:449395
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Velopharyngeal insuff... OMIM:154400
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Cleft palate, Ulcerative colit... OMIM:617137
Occipital Horn Syndrome
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Abnor... ORPHA:198
Trichothiodystrophy
Ventricular septal defect, Recurrent bronchopulmonary infections, High, narrow palate, Increased ... ORPHA:33364
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Gastroesophageal reflux, Prolonged ... ORPHA:363611
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Recurrent respiratory infections, Xerostomia, Gastroesophageal reflux ORPHA:398069
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Ventricular septal defect, Cleft palate ORPHA:1393
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Secundum atr... OMIM:616268
Tbck-Related Intellectual Disability Syndrome
Macroglossia, High, narrow palate, Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate, Tricuspid valve p... ORPHA:261337
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Aplasia of the thymus, Ankyloglossia, Gastroeso... OMIM:620186
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Bifid uvula OMIM:613458
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Cleft pa... ORPHA:1724
Telangiectasia, Hereditary Hemorrhagic, Type 2
Transient ischemic attack, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformat... OMIM:600376
Hajdu-Cheney Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Intestinal malrotation OMIM:102500
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363958
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Patent ductus arteriosus, Cleft palate, Abnormal heart morpholo... ORPHA:177907
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Patent ductus arteriosus, Cleft palate, High palate, Recurrent sinusitis, Atrial septal defect OMIM:213980
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, Mitral valve prolapse, High pa... OMIM:601776
Renal Nutcracker Syndrome
Vulval varicose vein, Varicose veins, Renal artery stenosis, Anemia, Dilatation of mesenteric artery ORPHA:71273
Distal Deletion 3P
Atrioventricular canal defect, High palate, Cleft palate ORPHA:1620
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly OMIM:620076
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... OMIM:615948
Williams-Beuren Syndrome
Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retin... OMIM:194050
Restrictive Dermopathy 1
Patent ductus arteriosus, Submucous cleft hard palate, Hydropic placenta, Stillbirth, Short umbil... OMIM:275210
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, High, narrow palate, Pyloric stenosis, Cardiomyopathy, G... ORPHA:3472
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Patent foramen ovale, High palate, Arteria lusoria OMIM:618653
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef... OMIM:608670
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate ORPHA:1071
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Duodenal ulc... OMIM:135900
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Submucous cleft soft pal... ORPHA:500150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Patent ductus arteriosus, Submucous cleft hard palate, Elliptocytosis, Patent ... OMIM:300990
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Coarctation of aorta, Gastroesophageal reflux, Atrioventricular canal d... OMIM:619480
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, High, narrow palate ORPHA:1439
Femoral-Facial Syndrome
Ventricular septal defect, Cleft palate, Gastroesophageal reflux, Pulmonic stenosis, Truncus arte... OMIM:134780
Turnpenny-Fry Syndrome
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, High palate, G... OMIM:618371
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Dilation of Virchow-Robin spaces, High palate OMIM:619512
Oculodentodigital Dysplasia
Ventricular septal defect, Cleft palate ORPHA:2710
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Gastroesophageal reflux ORPHA:522077
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... ORPHA:434179
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Gastr... OMIM:107480
Chromosome 13Q14 Deletion Syndrome
High palate, Ventricular septal defect, Patent foramen ovale OMIM:613884
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, High palate, Pulmoni... ORPHA:363700
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins OMIM:314300
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Macroglossia, Splenopancreatic fusion, Hepatoblastoma OMIM:269150
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, High, narrow palate, Mitral valve prolapse, Abnormal heart morp... OMIM:615873
Oculodentodigital Dysplasia
Atrial septal defect, High palate, Cleft palate OMIM:164200
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Orofaciodigital Syndrome Type 2
Hamartoma of tongue, Velopharyngeal insufficiency, Central retinal vessel vascular tortuosity, Cl... ORPHA:2751
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate, Pyloric stenos... ORPHA:268261
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate, Atrial septal defect OMIM:271640
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Pleural effusion, Leukemia, Chylothorax ORPHA:2526
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, Jaundice, Short uvula, Dil... OMIM:619475
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... ORPHA:286
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Aplasia of the epiglottis, Coarctation o... OMIM:617088
Townes-Brocks Syndrome
Rectoperineal fistula, Abnormal pulmonary valve morphology, Patent ductus arteriosus, Anteriorly ... ORPHA:857
Genitopatellar Syndrome
Anal stenosis, Ventricular septal defect, Malrotation of small bowel, Anteriorly placed anus, Pul... OMIM:606170
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Microglossia, Cleft ... ORPHA:672
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal... OMIM:143095
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c,... OMIM:619127
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate ORPHA:1934
Hypermobile Ehlers-Danlos Syndrome
Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t... ORPHA:285
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Patent ductus arteriosus, Cleft palate, Cardiomyopathy, High pala... ORPHA:480880
Proboscis Lateralis
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard... OMIM:619325
Sotos Syndrome
Ventricular septal defect, Aganglionic megacolon, Small cell lung carcinoma, Patent ductus arteri... ORPHA:821
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Peters-Plus Syndrome
Ventricular septal defect, Bilobate gallbladder, Patent ductus arteriosus, Biliary tract abnormal... OMIM:261540
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Gastroesophageal reflux, High palate OMIM:300896
Ulnar-Mammary Syndrome
Pyloric stenosis, Anal stenosis, Ventricular septal defect, Anal atresia OMIM:181450
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Cornelia De Lange Syndrome
Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Cleft palate, High palate, G... ORPHA:199
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cleft palate, Stillbirth, Atrial septal defect, Umbilical hernia, Dilatation of the... OMIM:304120
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect OMIM:619522
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Recurrent pancreatitis, Dysphagia... OMIM:606721
Microphthalmia With Limb Anomalies
Venous insufficiency, High palate, Cleft palate ORPHA:1106
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis OMIM:250220
Gitelman Syndrome
Pericardial effusion, Varicose veins, Iron deficiency anemia, Neoplasm of the pancreas ORPHA:358
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Recurrent pneumonia, High palate, Bifid uvula, Recurrent bronchitis OMIM:620330
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Recurrent upper respiratory tract infections, Cleft palate, Neonatal death... OMIM:308205
Pallister-Killian Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft... OMIM:601803
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Yunis-Varon Syndrome
Ventricular septal defect, Pyloric stenosis, Cardiomyopathy, High palate, Aspiration pneumonia, T... OMIM:216340
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Secundum atrial septal defect, Lymphangioma, Subarterial ventricular septal defect, Recurrent pne... ORPHA:99646
Norrie Disease
Venous insufficiency ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cfc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cfc1.

No publications found that use IMPC mice or data for Cfc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cfc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cfc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cfc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter