Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serine and arginine-rich splicing factor 10
Synonyms:
Srsf13a,  FUSIP2,  Nssr,  NSSR1,  Sfrs13a,  SRrp40,  TASR1,  Fusip1,  NSSR2,  TASR2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Srsf10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Srsf10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Peripheral edema, Mitral regurgitation, ... ORPHA:75249
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Biventricular hypertrophy, Left ventricular non... OMIM:619424
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Ascites, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:57777
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Short stature, Growth delay OMIM:617744
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Hypoplastic spleen, Endocardial fibroelastosis, Nonimmune hydrops fetal... OMIM:619313
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Death in chil... OMIM:253300
Eng-Strom Syndrome
Intrauterine growth retardation, Short stature, Ventricular septal defect, Camptodactyly of finge... ORPHA:1937
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Disp... ORPHA:1354
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Transposition of the great arteries, Double outlet right ... OMIM:217095
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Oligohydramnios ORPHA:1909
Sonoda Syndrome
Short stature, Ventricular septal defect OMIM:270460
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice, Ventricula... OMIM:614876
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Short stature, Ventricular septal defect, Torticollis OMIM:249670
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita, Skeletal muscle ... OMIM:611369
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... OMIM:613759
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Wolff-Parki... OMIM:619343
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Short stature, Intrauterine growth retardation, Ventricular septal defect ORPHA:2515
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, B... OMIM:618719
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Decreased liver function, Hypertension, Ventricular ... OMIM:617021
White Forelock With Malformations
Atrial septal defect OMIM:277740
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Short stature, Growth delay ORPHA:52056
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Cirrhosis, ... ORPHA:101028
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Hepatic cysts, Stillbirth OMIM:263630
Heterotaxy, Visceral, 12, Autosomal
Complete atrioventricular canal defect, Patent foramen ovale, Atrial septal defect, Dextrotranspo... OMIM:619702
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right ventricle, Ven... ORPHA:1209
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Flexion contracture, Sinus tachycardia, Growth delay, Right bundle bran... OMIM:614008
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Death in adolescence, ... OMIM:605676
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Abnormal left ventricular function, Congestive h... ORPHA:2041
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Short stature, Ventricular septal defect ORPHA:1388
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Short stature, Ventricular septal defect, Wolff-Parkinson-White s... OMIM:614947
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:614262
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Ventricular septal defect OMIM:614326
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Short Stature, Developmental Delay, And Congenital Heart Defects
Proportionate short stature, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect ORPHA:3469
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Atrial septal defect, Growth delay, Short stature, Ventri... OMIM:617063
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Ve... OMIM:264480
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Atrial septal defect, Decreased liver fu... OMIM:614300
Down Syndrome
Complete atrioventricular canal defect, Short stature, Macroglossia OMIM:190685
Lambert Syndrome
Intrahepatic biliary atresia, Intrauterine growth retardation, Cholestasis, Jaundice, Ventricular... ORPHA:1296
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short stature OMIM:113301
Feingold Syndrome Type 2
Short stature, Ventricular septal defect ORPHA:391646
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Short stature, Ventricular septal... ORPHA:49827
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Jaundice, Giant cell hepatitis, Ventricular septal defect, Arthrogryposis m... OMIM:208085
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Ventricular septal defect ORPHA:306550
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Card... OMIM:619003
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Abnormal tricuspid valve morphology, Partial atrioventricula... ORPHA:1330
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Atrial septal defect, Pulmonary arterial hypertension, Short stature, Ventri... OMIM:300887
Noonan Syndrome 11
Atrial septal defect, Short stature, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Bicuspid aortic valve, Postn... OMIM:613355
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Transaldolase Deficiency
Hepatosplenomegaly, Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, ... OMIM:606003
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Congestive heart failure, Atria... ORPHA:90308
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Patent foramen ov... OMIM:614582
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Polyhydramnios, Ventricular septal defect, Arthr... OMIM:607598
Noonan Syndrome 8
Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pulmonic stenosis, Short sta... OMIM:615355
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Joubert Syndrome 18
Camptodactyly, Intrauterine growth retardation, Ventricular septal defect OMIM:614815
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Short stature, Cardiomyopathy, Ventricu... OMIM:249270
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Intrauterine growth retardation, Accessory spleen, Agenes... OMIM:236680
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Neonatal death, Absent gallbladder OMIM:617925
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Atrial septal defect, Pulmonary arterial hypertension, Short sta... OMIM:608406
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Camptodactyly, Ventricular septal defect OMIM:613458
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy, Short stature ORPHA:93946
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Ventricular ... OMIM:615279
Congenital Rubella Syndrome
Intrauterine growth retardation, Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Shor... ORPHA:290
Li-Campeau Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Patent foramen ovale OMIM:619189
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Atrial septal defect, Hydrops fetalis, Lymphedema, Ventricular ... OMIM:601927
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Mild short stature, Patent foramen ovale OMIM:601450
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Impe... ORPHA:1880
Glycogen Storage Disease Iv
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Skeletal muscle atrophy, Hydrops fetali... OMIM:232500
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Short stature, Ventricular septal defect, Ventricular ... OMIM:612946
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Tyshchenko Syndrome
Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, Short stature, Polyhydr... OMIM:615102
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Nonimmune hydrops fetalis, Decreased liver function, Cardiomyopa... OMIM:618839
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Ventricular septal de... ORPHA:1913
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy, Decrease... OMIM:618835
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Pancreatic cysts, Atrial... OMIM:267010
46,Xx Sex Reversal 5
Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventricular septal defect, Secundum at... OMIM:618901
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Short stature, Ventricular septal defect OMIM:616901
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Atrial septal defect, Growth delay, Ventricular septal defect, Ventricular h... OMIM:612561
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium OMIM:615524
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Congenital diaphragmatic hernia, Bicuspid... ORPHA:1120
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Pulmonic stenosis, Short stature, Ventricular septal defec... OMIM:248950
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Ventricular septal defect, Contractures of the interphalangea... OMIM:613870
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Cholestasis, Atrial septal defect, Splenomegaly, Growth delay, H... OMIM:614576
Ciliary Dyskinesia, Primary, 40
Congenitally corrected transposition of the great arteries, Unbalanced atrioventricular canal def... OMIM:618300
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Double outlet right v... OMIM:220210
20P12.3 Microdeletion Syndrome
Atrial septal defect, Short stature, Wolff-Parkinson-White syndrome ORPHA:261295
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Ventricular septal de... OMIM:600123
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation ORPHA:79094
Lymphatic Malformation 6
Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Splenomegaly, Pleural effusion, Gen... OMIM:616843
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrial septal defect, First degree atrioventricular block, Hypopl... ORPHA:392
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Patent foramen ovale, Skeletal muscle atrophy, Increased variability in musc... OMIM:616867
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Atrial septal defect, Pulmonary arterial hypertension, H... ORPHA:210122
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Polyhydramnios, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... OMIM:618782
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Facial hypotonia, Congestive heart failure, Atrial septal defect, Polyhydramnios, Decreased muscl... ORPHA:500533
Weill-Marchesani Syndrome
Pulmonic stenosis, Short stature, Ventricular septal defect, Mitral regurgitation, Aortic valve s... ORPHA:3449
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Atrial septal defect, Growth delay, Double outlet right ventricle, Pulmonic ... OMIM:179613
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Congenital contracture, Joint contracture of the 5th finger, Abnormal heart... ORPHA:352490
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Coffin-Siris Syndrome 5
Atrial septal defect, Short stature, Intrauterine growth retardation OMIM:616938
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Diamond-Blackfan Anemia 4
Atrial septal defect, Short stature, Growth delay OMIM:612527
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Noonan Syndrome 12
Polyhydramnios, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Polyhydramnios ORPHA:466926
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Short stature, Ventricular septal defect, Right ventr... OMIM:614261
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplastic left heart, Intrauterine growth retardatio... ORPHA:2772
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Prolonged QT interval, Ventricular septal defect, Brad... OMIM:601005
Dohle Bodies And Leukemia
Lymphedema, Secundum atrial septal defect OMIM:223350
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Intrauterine growth retardation, Patent foramen ovale ORPHA:89844
Roifman Syndrome
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Ventricular septal de... OMIM:616651
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Atrial septal defect, Bile duct proliferation, ... OMIM:208540
Meacham Syndrome
Tetralogy of Fallot, Accessory spleen, Atrial septal defect, Aplasia of the right hemidiaphragm, ... OMIM:608978
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Adams-Oliver Syndrome 6
Portal hypertension, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation, Hepa... OMIM:616589
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs ... OMIM:605376
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Serkal Syndrome
Growth delay, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect, Olig... ORPHA:139466
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Pedal edema, Ventricular septal defect OMIM:126320
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Alagille Syndrome 2
Tetralogy of Fallot, Cholestasis, Atrial septal defect, Pulmonic stenosis, Hypertension, Cholesta... OMIM:610205
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Atrial septal defec... OMIM:616749
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:618142
Cardiac Diverticulum
Tricuspid atresia, Diastasis recti, Premature ventricular contraction, Dextrocardia, Mitral steno... ORPHA:1686
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Thanatophoric Dysplasia
Intrauterine growth retardation, Atrial septal defect, Polyhydramnios, Increased nuchal transluce... ORPHA:2655
Even-Plus Syndrome
Severe short stature, Atrial septal defect, Patent foramen ovale, Oligohydramnios OMIM:616854
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Giant cell hepatitis, Ventricular septal defect, Arthrogryposis multiplex congenita, Ri... OMIM:613404
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Intrauterine growth retardation ORPHA:521308
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatomegaly, Severe short-limb dw... ORPHA:1842
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal ... OMIM:618775
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus ORPHA:401935
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Rhabdomyolysis, Elevated circulating alanine aminotran... OMIM:614921
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Pedal edema, Ventricu... ORPHA:2299
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Short stature, Ventricular septal defect OMIM:600987
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, Short stature, Ventricular septal defect ORPHA:3369
Tatton-Brown-Rahman Syndrome
Atrial septal defect OMIM:615879
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Polyhydramnios, Secundum atrial septal defect ORPHA:96190
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Intrauterine growth retardation, Ventricular septa... OMIM:611134
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect OMIM:618109
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal heart morpho... ORPHA:2847
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Short stature ORPHA:1035
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Patent foramen ovale, Congestive heart failure, Generalized amyotrophy, Incr... OMIM:616866
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Abnormal heart morphology, Polyhydramnios, Ventricular septal defect, Postnatal ... ORPHA:254534
Noonan Syndrome 5
Arrhythmia, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polyhydramnios,... OMIM:611553
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Short stature OMIM:608571
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Primum atrial septal defect, Situs inversus totalis, Partial atrioventricular canal ... OMIM:619608
Megalencephaly
Atrial septal defect ORPHA:2477
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Atrial septal defect, Growth delay, ... ORPHA:1667
Abruzzo-Erickson Syndrome
Atrial septal defect, Short stature ORPHA:921
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Atrial septal defect, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Short stature, Intrauterine growth retardation, Ventricular septal defect ORPHA:75389
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Hypoplastic Left Heart Syndrome
Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral atresia ORPHA:2248
Transketolase Deficiency
Patent foramen ovale, Atrial septal defect, Hepatomegaly, Abnormal heart morphology, Ventricular ... ORPHA:488618
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Congestive heart failure, Aortic reg... ORPHA:99094
Trigonocephaly With Short Stature And Developmental Delay
Short stature, Ventricular septal defect OMIM:314320
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect, Abnormality of mesentery morphology ORPHA:2256
Kagami-Ogata Syndrome
Flexion contracture, Diastasis recti, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic ... OMIM:608149
Seckel Syndrome 9
Intrauterine growth retardation, Atrial septal defect, Congenital diaphragmatic hernia, Short sta... OMIM:616777
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Polyhydramnios, Facial hypotonia OMIM:611087
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Short stature, Atrioventricular canal defect OMIM:613792
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Methimazole Embryofetopathy
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Short stature OMIM:615502
Immunodeficiency 87 And Autoimmunity
Anasarca, Dilated cardiomyopathy, Hepatic steatosis, Hepatic failure, Elevated circulating alanin... OMIM:619573
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot ORPHA:1166
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Camptodactyly, Growth delay, Ventricular septal defect OMIM:300963
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Polyhydramni... OMIM:619334
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, V... OMIM:618316
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Fetal Gaucher Disease
Flexion contracture, Hydrops fetalis, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Arth... ORPHA:85212
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve OMIM:619149
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Noonan Syndrome 2
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Polyhydramni... OMIM:605275
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Intrauterine growth retarda... ORPHA:500
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Atrial septal defect, Short stature, Ventricular septal defect, Increased n... OMIM:618870
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Abnormal hear... ORPHA:261183
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death, Rhabdomyolysis, Decreased liver function OMIM:602199
Thanatophoric Dysplasia Type 2
Atrial septal defect, Polyhydramnios, Short stature, Increased nuchal translucency ORPHA:93274
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Short stature, Arterial rupture OMIM:619115
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Mental Retardation, Buenos Aires Type
Atrial septal defect, Intrahepatic biliary atresia OMIM:249630
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pulmonic ste... ORPHA:1461
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Abdominal situs inversus, Ventricular septal defect, Asplenia, Atrioventricula... OMIM:619123
15Q14 Microdeletion Syndrome
Atrial septal defect, Short stature, Ventricular septal defect ORPHA:261190
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Growth delay, ... ORPHA:251071
Desbuquois Syndrome
Camptodactyly of finger, Severe short stature, Aplasia/Hypoplasia of the abdominal wall musculatu... ORPHA:1425
Aase-Smith Syndrome I
Death in infancy, Flexion contracture, Ventricular septal defect OMIM:147800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly, Short stature, Ventricular septal defec... OMIM:615630
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Intrauterine growth retardation, Hydrops fetalis, Ventricular septal defect, To... OMIM:617022
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Noonan Syndrome 10
Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pulmonic stenosis, Short sta... OMIM:616564
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Atrial septal defect, Growth delay, Double outlet right ventricl... OMIM:614886
Visceral Steatosis, Congenital
Neonatal death, Hepatic steatosis, Myocardial steatosis, Jaundice OMIM:228100
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
16P12.1P12.3 Triplication Syndrome
Intrauterine growth retardation, Abnormal tricuspid valve morphology, Atrial septal defect, Abnor... ORPHA:485405
Van Esch-O'Driscoll Syndrome
Intrauterine growth retardation, Atrial septal defect, Growth delay, Short stature, Pulmonary val... OMIM:301030
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Dextrotransposition of the great arteries, Unbalanced atrioventricular cana... OMIM:619657
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Camptodactyly, Ventricular septal defect OMIM:617360
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Microphthalmia, Syndromic 9
Hypoplastic spleen, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, P... OMIM:601186
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Alagille Syndrome
Intrauterine growth retardation, Cholestasis, Atrial septal defect, Hepatomegaly, Telangiectasia ... ORPHA:52
Emanuel Syndrome
Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, Congenital diaphragmati... OMIM:609029
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Intrauterine growth retardation, Aortic regurgitation, Arrhythmia, Atrial sept... ORPHA:254346
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Atrial septal defect, Heart murmur, Intrauterine growth retardation ORPHA:2728
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Patent foramen ovale, Tetralogy of Fallot with absent pulmonary valve OMIM:239711
Fanconi Anemia, Complementation Group Q
Short stature, Primum atrial septal defect, Growth delay, Biliary atresia OMIM:615272
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration, Short stature OMIM:617808
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Patent foramen ovale, Mitral regurgitation, Camptodactyly, Mitral valve prolapse OMIM:615539
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Intrauterine growth retardation, Atrial septal defect, Dysplastic t... OMIM:612863
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopath... OMIM:616897
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Growth delay OMIM:614857
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Neona... OMIM:253310
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
8Q24.3 Microdeletion Syndrome
Complete atrioventricular canal defect, Truncus arteriosus, Exocrine pancreatic insufficiency, In... ORPHA:508488
Prune Belly Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Aplasia of the abdominal wa... ORPHA:2970
Al Kaissi Syndrome
Intrauterine growth retardation, Atrial septal defect, Short stature, Postnatal growth retardatio... OMIM:617694
Scimitar Syndrome
Tetralogy of Fallot, Tricuspid atresia, Congestive heart failure, Atrial septal defect, Left-to-r... ORPHA:185
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Intrauterine growth retardation, Total anomalous pulmonary venous return,... OMIM:270100
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Short stature, Ventricular septal defect, We... OMIM:619542
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Polyhydramni... OMIM:610733
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Short stature, Edema, Ventricular septal defect OMIM:618348
Lethal Kniest-Like Dysplasia
Atrial septal defect, Polyhydramnios, Mesomelic/rhizomelic limb shortening, Severe short-limb dwa... ORPHA:2347
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Predominantly lower limb lymphedema, Lymphedema, Ventricular sep... OMIM:153400
Potocki-Lupski Syndrome
Atrial septal defect, Short stature, Patent foramen ovale OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Camptodactyly, Ventricular septal defect OMIM:301039
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Short stature, Ventr... OMIM:609053
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Small hypothenar eminence, Intrauterine growth retardation, Growth delay, Po... OMIM:612562
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Hypoplastic left heart, Short stature, Mitral stenosis, Aortic valve stenosis OMIM:617660
Catel-Manzke Syndrome
Overriding aorta, Intrauterine growth retardation, Dextrocardia, Ventricular septal defect, Postn... OMIM:616145
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Trisomy 13
Atrial septal defect, Hydrops fetalis, Intrauterine growth retardation, Ventricular septal defect ORPHA:3378
Insulin-Like Growth Factor I, Resistance To
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Short stature, Ventr... OMIM:270450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Tetralogy of Fallot, Intrauterine growth retardation, Patent f... ORPHA:2255
Aica-Ribosuria Due To Atic Deficiency
Atrial septal defect OMIM:608688
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Death in infancy, Atrioventricular canal defect OMIM:619135
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cardiac arrest, Cholestasis, Bile duct proliferation, Left-to-right shunt, Dex... OMIM:619534
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Intrauterine growth retardation, Atrial septal defect, Short stature, Ventri... OMIM:617452
Pseudo-Torch Syndrome 2
Bradycardia, Pleural effusion, Hepatomegaly, Elevated hepatic transaminase, Secundum atrial septa... OMIM:617397
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Third degree atrioventricular block, Bradycardia, Conotruncal defect ORPHA:40366
Chromosome 14Q11-Q22 Deletion Syndrome
Growth delay, Ventricular septal defect, Patent foramen ovale OMIM:613457
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Rhabdomyolysis, Intrauterine growth retardation, Patent foramen ovale, He... OMIM:610505
Fetal Alcohol Syndrome
Atrial septal defect, Short stature, Intrauterine growth retardation, Congenital diaphragmatic he... ORPHA:1915
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Absent gallbladder, Intrauterine growth retardation, Patent foramen ovale, D... OMIM:600001
Acrocardiofacial Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Mitral stenosis, Vent... ORPHA:2008
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroelastosis, Atr... ORPHA:99776
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Polyhydramnios, Edema, Cardiomegaly, Left... ORPHA:79330
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Foot dorsiflexor weakness, Patent foramen ovale, Atrial septal defect, Double o... ORPHA:477817
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect ORPHA:93267
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Splenomegaly, Growth delay, Pulmonic stenosis, Hepatomegaly, Pulmonary arte... OMIM:612541
Kniest-Like Dysplasia, Lethal
Arrhythmia, Rhizomelia, Atrial septal defect, Polyhydramnios, Edema, Lethal short-limbed short st... OMIM:245190
Mosaic Variegated Aneuploidy Syndrome 2
Intrauterine growth retardation, Aortic regurgitation, Rhizomelia, Atrial septal defect, Subvalvu... OMIM:614114
Oculoauriculovertebral Spectrum With Radial Defects
Short stature, EMG: myopathic abnormalities, Atrioventricular canal defect ORPHA:2549
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Elbow flexion contracture, Atrial septal defect, Knee flexion contracture,... OMIM:121050
Congenital Heart Defects And Skeletal Malformations Syndrome
Intrauterine growth retardation, Atrial septal defect, Congenital diaphragmatic hernia, Short sta... OMIM:617602
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Growth delay, Pulmonic stenosis, Short stature OMIM:613706
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Patent foramen ovale OMIM:618821
Short Stature And Facioauriculothoracic Malformations
Proportionate short stature, Ventricular septal defect OMIM:609654
Woods Syndrome
Ventricular septal defect OMIM:615236
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Intrauterine growth retardation, Growth delay, Congenital di... ORPHA:2409
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
20Q13.33 Microdeletion Syndrome
Hematochezia, Facial hypotonia, Atrial septal defect, Growth delay, Abnormal cardiac ventricle mo... ORPHA:261311
Noonan Syndrome 9
Short stature, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Left-to-right shunt, Muscular ventricular septal defect, Abnormal heart mor... ORPHA:363444
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Emanuel Syndrome
Intrauterine growth retardation, Multiple joint contractures, Atrial septal defect, Growth delay,... ORPHA:96170
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Atrioventricular canal defect OMIM:314390
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Syndromic Diarrhea
Tetralogy of Fallot, Hepatoblastoma, Abnormality of the liver, Intrauterine growth retardation, A... ORPHA:84064
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Rhizomelia, Short stature, Intrauterine growth retardation, Ventricular septal defect OMIM:617164
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Intrauterine growth retardation, Interface hepatitis, Death in childhood, Polyhydra... OMIM:243150
Pentalogy Of Cantrell
Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Atrial septal defect, C... ORPHA:1335
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Elbow flexion contracture, Atrial septal defect, Pan... OMIM:602782
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Intrauterine growth retardation, Atrial septal defect, Limb joint contracture, Short stature, Ven... ORPHA:505237
Diamond-Blackfan Anemia 5
Short stature, Ventricular septal defect OMIM:612528
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Arrhythmia, Patent foramen ovale, Atrial septal defect, Postnata... OMIM:619184
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Aortic regurgitation, Pulmonary insufficiency, Atrial septal def... ORPHA:230851
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale ORPHA:329224
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left heart, Sh... ORPHA:3426
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Bohring-Opitz Syndrome
Flexion contracture, Intrauterine growth retardation, Atrial septal defect, Hyperechogenic pancre... OMIM:605039
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ventricular septal defect, V... ORPHA:284169
Kabuki Syndrome 2
Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, Short stature, Atrioven... OMIM:300867
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Keutel Syndrome
Pulmonary arterial hypertension, Short stature, Ventricular septal defect ORPHA:85202
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Intrauterine growth ret... ORPHA:3384
Waardenburg Syndrome Type 3
Atrial septal defect, Camptodactyly of finger ORPHA:896
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Death in infancy, Ventricular septal defect ORPHA:452
Filippi Syndrome
Intrauterine growth retardation, Severe short stature, Growth delay, Short stature, Ventricular s... ORPHA:3255
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Congestive heart failure, Atrial septal defect, Hypertrophic cardiomyopathy,... OMIM:617303
Alazami Syndrome
Postnatal growth retardation, Atrial septal defect ORPHA:319671
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Patent foramen ovale, Predominantly lower limb lymphedema, Short stature, Epi... ORPHA:293939
Warsaw Breakage Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect OMIM:613398
Kapur-Toriello Syndrome
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Camptodactyly o... OMIM:244300
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Macroglo... OMIM:612938
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmo... ORPHA:3304
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:2519
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hypertension, Ventricular sep... OMIM:301068
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Patent foramen ovale, Rhizomelia, Polyhydramnios, Short stature, Ventricular hypertrophy, Death i... OMIM:602613
Proximal Spinal Muscular Atrophy
Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy, Atrial septal defect, ... ORPHA:70
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect OMIM:619769
Spondylo-Ocular Syndrome
Facial hypotonia, Short stature, Disproportionate short-trunk short stature, Ventricular septal d... ORPHA:85194
Meacham Syndrome
Tetralogy of Fallot, Conotruncal defect, Atrial septal defect, Situs inversus totalis, Congenital... ORPHA:3097
Noonan Syndrome 3
Patent foramen ovale, Atrial septal defect, Hypertrophic cardiomyopathy, Tricuspid valve prolapse... OMIM:609942
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Splenomegaly, Hepatomegaly, Pancreatic lymphangiectasis, Polyhydramnios, Lymphed... OMIM:235255
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Ventricular ... ORPHA:369929
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Patent foramen ovale, Bicuspid aortic valve OMIM:615009
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Short stature, Intrauterine growth retard... ORPHA:1292
Stevenson-Carey Syndrome
Atrial septal defect, Camptodactyly, Joint contracture of the hand OMIM:611961
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Costello Syndrome
Thickened Achilles tendon, Hypertrophic cardiomyopathy, Pulmonic stenosis, Macroglossia, Short st... ORPHA:3071
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Abnormal heart morphology, Ventricular septal defect, Patent foramen ovale ORPHA:500159
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Arthrogryposis-like hand anomaly, Macroglossia, Abnormal heart morphology, ... ORPHA:369891
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Short stature ORPHA:79113
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Short stature, Growth delay, Macroglossia ORPHA:93947
Codas Syndrome
Short stature, Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
17Q23.1Q23.2 Microdeletion Syndrome
Intrauterine growth retardation, Atrial septal defect, Pulmonary arterial hypertension, Short sta... ORPHA:261279
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Congenital muscular torticollis ORPHA:2345
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Abnormal left ventricular function, Hepatomegaly, Double outlet ... OMIM:301056
Ogden Syndrome
Torsade de pointes, Premature ventricular contraction, Arrhythmia, Atrial septal defect, Ventricu... OMIM:300855
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Atrial septal defect, Pleural effusion, Macroglossia, Abnormal h... ORPHA:453499
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Short stature, Growth delay, Ventricular septal defect ORPHA:457193
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Tetralogy of Fallot, Aortopulmonary window, Congestive heart failure, Atrial septal defect, Left-... ORPHA:99050
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Camptodactyly, Short stature, Aortic valve stenosis ORPHA:459061
Brachydactyly, Type B1
Camptodactyly, Ventricular septal defect, Joint contracture of the hand OMIM:113000
Cooper-Jabs Syndrome
Camptodactyly of finger, Short stature, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:1488
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Hypertension, Ventricular septal defect, Bic... ORPHA:371428
Spondyloocular Syndrome
Atrial septal defect, Short stature, Mitral valve prolapse OMIM:605822
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Dextrocardia, Atrioventricular canal defect OMIM:618929
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Intrauterine growth retardation, Atrial septal defect, Congenital di... ORPHA:363528
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Tetralogy of Fallot OMIM:617159
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Hepatomegaly OMIM:619383
Noonan Syndrome 13
Atrial septal defect, Lymphedema, Mitral valve prolapse, Mitral regurgitation OMIM:619087
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Patent foramen ovale, Diastasis r... ORPHA:576
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Atrial septal defect, Proportionate short stature, Supraventricular tachyca... ORPHA:404443
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Intrauterine growth retardation, Contracture of the proximal interphalangeal joint of the 2nd fin... OMIM:300998
Thanatophoric Dysplasia Type 1
Atrial septal defect, Polyhydramnios, Increased nuchal translucency, Lethal short-limbed short st... ORPHA:1860
Myopathy With Extrapyramidal Signs
Splenomegaly, Hepatomegaly, Growth delay, Ventricular septal defect, Elevated hepatic transaminas... OMIM:615673
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Patent foramen ovale, Periportal fibrosis, Splenomegaly, Hepatom... OMIM:269860
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Polyhydramnios, Edema, Patent foramen ovale OMIM:607143
Craniofacial Dyssynostosis With Short Stature
Short stature, Ventricular septal defect OMIM:218350
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Growth delay, Ventricular septal defect ORPHA:3306
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619699
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Atrial septal defect, Pulmonic stenosis, Knee flexion contracture, Ventr... ORPHA:435638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Atrial septal defect, Contracture of the proximal interphalangeal joint of ... ORPHA:457279
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy, Polyhydramnios ORPHA:1790
Pelger-Huet Anomaly
Lower limb hypertonia, Mild short stature, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Patent foramen ovale, Cholestasis, Cholangitis, Rhizomelia, Atrial septal defe... OMIM:613610
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Growth delay, Pulmonic stenosis, Common atrium, Epistaxis ORPHA:96168
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Hepatic failure, Intrauterine growth retardation, Aortic regurgitation, Chol... OMIM:222470
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Accessory spleen, Hepatopulmonary fusion, Atrial septal defect, Dysplastic t... OMIM:618280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Periportal fibrosis, Pancreatic cysts, Neonatal death, Splenomegaly, Hepatom... OMIM:263200
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Bdv Syndrome
Atrial septal defect, Delayed puberty OMIM:619326
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Mild postnatal growth retardation, Pleural effusion, Lymphedema, Periorbita... OMIM:235510
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:1926
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Oligohydramnios, Intrauterine growth retardation, Ventricular se... OMIM:611812
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Abnormal heart valve morphology, Intrauterine growth retardati... ORPHA:289
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Ventricular septal defect, Postnatal growth retardation, Torticollis ORPHA:276432
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect OMIM:219730
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Pseudo-Torch Syndrome 1
Patent foramen ovale, Decreased liver function, Hepatomegaly, Jaundice, Splenomegaly, Elevated he... OMIM:251290
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Growth delay, Hypoplastic left heart, Ventricular septal defect, Transpositi... ORPHA:1727
Carpenter Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Short stature, Ventricular septal d... OMIM:201000
Codas Syndrome
Atrial septal defect, Polyhydramnios, Short stature, Ventricular septal defect, Atrioventricular ... OMIM:600373
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Hepatosplenomegaly, Atrial septal defect, Palpebral edema, Macroglossia, Camptodactyly ORPHA:397709
Johnson Neuroectodermal Syndrome
Facial palsy, Short stature, Growth delay, Ventricular septal defect OMIM:147770
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Growth delay, Intrauterine growth retardation, Ventricular septa... ORPHA:447980
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Polyhydramnios, Growth delay, Ventricular septal defect OMIM:616920
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Short stature, Ventricular septal defect OMIM:610536
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Abnormal heart morphology, Intrauterine growth retardation, Ventric... ORPHA:494344
Chromosome 9P Deletion Syndrome
Atrial septal defect, Heart murmur, Ventricular septal defect OMIM:158170
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Intrauterine growth retardation, Ventricular septal defect ORPHA:79243
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, Short stature, Vent... ORPHA:1908
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Short stature, Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Atrial septal defect, Knee flexion contracture, Annular pancreas, Elbow flexion contr... OMIM:618162
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Telan... OMIM:612582
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Patent foramen ovale, Joint contracture of the 5th finger, Pulmonic stenos... OMIM:618914
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect OMIM:602482
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Histiocytoid cardiomyopathy, Arrhythmia, Atrial septal defect, Congenital diaph... OMIM:309801
Gm1 Gangliosidosis