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Gene: Srsf10 MGI:1333805

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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,  Sfrs13a,  NSSR1,  SRrp40,  TASR1,  Fusip1,  NSSR2,  TASR2

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 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
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Pulmonary edema, Atrial fibrillation, Left atrial enlargement, Tricuspid regurgitat... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyo... OMIM:619424
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho... ORPHA:1937
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ... OMIM:217095
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Sonoda Syndrome
Ventricular septal defect, Short stature OMIM:270460
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... OMIM:614876
Cardiomyopathy, Dilated, 2H
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left v... OMIM:620203
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:249670
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Cholestasis, Mitral valve prolapse, Pulmonary arterial hyp... OMIM:620233
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature ORPHA:2515
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
White Forelock With Malformations
Atrial septal defect OMIM:277740
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios OMIM:615731
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Cirrhosis,... ORPHA:101028
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common... OMIM:619702
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts OMIM:263630
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Nestor-Guillermo Progeria Syndrome
Short stature, Left atrial enlargement, Flexion contracture, Growth delay, Hypertension, Mitral r... OMIM:614008
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Congenital Myopathy 11
Elevated hepatic transaminase, Polyhydramnios, Atrial septal defect, Weakness of facial musculatu... OMIM:619967
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Elevated circulat... OMIM:610198
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature ORPHA:1388
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:614326
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... OMIM:264480
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Feingold Syndrome Type 2
Ventricular septal defect, Short stature ORPHA:391646
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ... OMIM:616276
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Growth delay, Short stature ORPHA:52056
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Intrahepatic biliary atresia, Intrauterine grow... ORPHA:1296
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
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
Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Pulmonary arterial hypertension, Intra... OMIM:619003
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... ORPHA:49827
Meier-Gorlin Syndrome 7
Ventricular septal defect, Short stature, Heart block, Complete atrioventricular canal defect, Gr... OMIM:617063
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short stature OMIM:113301
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... OMIM:617744
Down Syndrome
Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Partial anomalo... OMIM:190685
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis OMIM:618499
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Atrial ... OMIM:615996
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect, Death in infancy OMIM:613730
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Leopard Syndrome 1
Bundle branch block, Scapular winging, Short stature, Delayed menarche, Complete atrioventricular... OMIM:151100
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... OMIM:606003
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Proportionate short stature OMIM:617044
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Ventricular septal defect,... OMIM:208085
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... OMIM:620294
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... ORPHA:90308
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Noonan Syndrome 8
Ventricular septal defect, Short stature, Polyhydramnios, Pleural effusion, Mitral regurgitation,... OMIM:615355
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Short stature OMIM:619189
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Atrial septal d... OMIM:249270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... OMIM:601927
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Short stature OMIM:618330
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot, Absent gallbladder OMIM:617925
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy, Short stature ORPHA:93946
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe... OMIM:236680
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen... OMIM:232500
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... OMIM:615279
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal d... OMIM:618839
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Pu... OMIM:300887
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Camp... OMIM:619751
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios OMIM:615476
Tyshchenko Syndrome
Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect... OMIM:615102
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauteri... OMIM:618835
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Atrial septal def... ORPHA:290
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the... OMIM:208540
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Short stature, Atrial septal defect, Tetralog... OMIM:612946
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
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
Weill-Marchesani Syndrome
Short stature, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Aortic valve s... ORPHA:3449
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... ORPHA:1913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... ORPHA:1120
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Polyhydramnios, Flexion contracture, Increased ... OMIM:616867
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Growth delay, Mitral r... OMIM:612561
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Growth delay, Short stature OMIM:620211
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Left ventri... OMIM:252011
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Cholestasis, He... OMIM:267010
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Edema, Cholestasis, Perimembranous ventricular septal defect, Dec... OMIM:608104
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... ORPHA:500533
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular septal defect, ... ORPHA:508488
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Congenitally corrected transposition of th... OMIM:618300
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Death in infancy, Ventricular septal ... OMIM:614576
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom... OMIM:616843
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
20P12.3 Microdeletion Syndrome
Atrial septal defect, Short stature, Wolff-Parkinson-White syndrome ORPHA:261295
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios ORPHA:3405
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Hypertension, Second degr... OMIM:617021
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Postnatal growth retardation, Growth delay, Joint contracture of the h... OMIM:179613
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Postnatal growth retardation, Increased nuchal translucency, Macroglos... OMIM:615668
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Polyhydramnios ORPHA:96190
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Short stature, Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopat... ORPHA:88630
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th fi... ORPHA:352490
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Coffin-Siris Syndrome 5
Atrial septal defect, Intrauterine growth retardation, Short stature OMIM:616938
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... ORPHA:97214
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Prolonged QT interv... ORPHA:26793
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Disproportion... ORPHA:2772
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Diamond-Blackfan Anemia 4
Atrial septal defect, Growth delay, Short stature OMIM:612527
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Even-Plus Syndrome
Atrial septal defect, Severe short stature, Patent foramen ovale, Oligohydramnios OMIM:616854
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Polyhydramnios ORPHA:466926
Meacham Syndrome
Accessory spleen, Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular sept... OMIM:608978
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Short sta... OMIM:616651
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegaly OMIM:620210
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, Miscarriage, Abnormal heart morphology, Small thenar eminence, N... OMIM:613390
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Growth delay, Pulmonic stenosis, Olig... ORPHA:139466
Alagille Syndrome 2
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... OMIM:610205
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul... OMIM:314390
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hypoplastic rig... OMIM:618142
3C Syndrome
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Pos... ORPHA:7
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Lymphatic Malformation 13
Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death... OMIM:620244
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen... OMIM:620300
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricu... OMIM:620070
Joubert Syndrome 18
Intrauterine growth retardation, Intrahepatic biliary atresia, Ventricular septal defect, Camptod... OMIM:614815
Meckel Syndrome, Type 4
Atrial septal defect, Intrauterine growth retardation, Bile duct proliferation, Ventricular septa... OMIM:611134
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular ... OMIM:613404
Microphthalmia, Syndromic 9
Atrial septal defect, Diaphragmatic eventration, Severe short stature, Ventricular septal defect,... OMIM:601186
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, Ventricular septal defect, Short stature ORPHA:3369
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Short statur... OMIM:614921
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retardation, Abnorma... ORPHA:254534
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Disproportionate short-limb short stature, Atrial ... ORPHA:2655
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Dehy... ORPHA:1667
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Rhizomelia, Severe short-limb dwarfism, Atrial septal defect, Hypertrophic cardiomy... ORPHA:1842
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Noonan Syndrome 5
Short stature, Polyhydramnios, Pulmonic stenosis, Arrhythmia, Atrial septal defect, Hypertrophic ... OMIM:611553
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... ORPHA:2847
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Chromosome 3Pter-P25 Deletion Syndrome
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Atrio... OMIM:613792
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Intrauterine growth retardation ORPHA:521308
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... OMIM:617478
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... OMIM:619573
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect OMIM:617635
Megalencephaly
Atrial septal defect ORPHA:2477
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature ORPHA:75389
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Short stature, Atrial septal defect, Patent foramen ovale, Right ventr... OMIM:614261
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:619149
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Abruzzo-Erickson Syndrome
Atrial septal defect, Short stature ORPHA:921
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Short stature ORPHA:1035
16P12.1P12.3 Triplication Syndrome
Tachycardia, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tric... ORPHA:485405
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Short stature OMIM:314320
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Polyhydramnios, Cardiomyopathy, Myopathy, Stillbirth, Decreased l... OMIM:614922
Methimazole Embryofetopathy
Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios ORPHA:1923
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Short stature, Arterial rupture OMIM:619115
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Short stature ORPHA:1166
Seckel Syndrome 9
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Polyhydramnios, Atrial... OMIM:616777
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Flexion c... OMIM:608149
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Proportionate short stature, Abnormal heart morphology, ... ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Short stature OMIM:615502
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Short stature, Increased nu... OMIM:618870
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Facial hypotonia, Polyhydramnios OMIM:611087
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Death in childhood, Neonatal death, Increased variability in mu... OMIM:619334
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Short stature, Polyhydramnios, Increased nuchal trans... OMIM:605275
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Short stature, Abnormal p... ORPHA:500
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios ORPHA:2256
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis, Decreased liver function, Dehydration OMIM:602199
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... ORPHA:75565
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Growth delay, Hypertrophic cardiomyopathy, Abnorm... ORPHA:251071
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl... OMIM:270100
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ... OMIM:619123
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Cholestasis, Hepatic fibros... OMIM:615630
Thanatophoric Dysplasia Type 2
Atrial septal defect, Increased nuchal translucency, Short stature, Polyhydramnios ORPHA:93274
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Short stature, Hypomimic face OMIM:608572
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Aplasia/Hypoplasia of t... ORPHA:1425
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... OMIM:618494
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Limb h... OMIM:619909
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Short stature, Secundum atrial septal defect, Perimembranous ventricul... OMIM:600987
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... OMIM:603387
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Short stature, Asplenia, Partial anomalous pulmonary ven... OMIM:619657
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short stature ORPHA:261190
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale, Short stature OMIM:610883
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration, Short stature OMIM:617808
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short stature, Increased nuchal translucency, Mitral ... OMIM:616564
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... ORPHA:185
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hepatic steatosis, Ventricular septal defect, Mitral regurgitation, Atrial ... ORPHA:254346
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Reduced number ... ORPHA:52
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
King-Denborough Syndrome
Ventricular septal defect, Short stature, Centrally nucleated skeletal muscle fibers, Type 1 musc... OMIM:619542
Aase-Smith Syndrome I
Death in infancy, Flexion contracture, Ventricular septal defect OMIM:147800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly OMIM:301039
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Neonatal death, Arthrogryposis mul... OMIM:253310
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Short stature, Flexion contracture, Atrial septal defect, Intrauterine... OMIM:617452
Prune Belly Syndrome
Ventricular septal defect, Aplasia of the abdominal wall musculature, Atrial septal defect, Tetra... ORPHA:2970
Tarp Syndrome
Atrial septal defect, Subdural hemorrhage, Tetralogy of Fallot, Neonatal death, Intrauterine grow... OMIM:311900
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double ... OMIM:618316
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Atrial septal defect, Intrauterine growth retardation, Patent foramen ova... OMIM:620327
Fanconi Anemia, Complementation Group Q
Growth delay, Short stature, Biliary atresia, Primum atrial septal defect OMIM:615272
Emanuel Syndrome
Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Join... OMIM:609029
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne... OMIM:265380
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Intrauterine growth retardation, Increased nuchal translucency OMIM:620183
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Intrauterine growth retardation, Postnatal growth retardation, Heart murmur ORPHA:2728
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Noonan Syndrome 4
Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect... OMIM:610733
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Short stature, Patent foramen o... OMIM:618027
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect OMIM:619908
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Death in infancy, Atrioventricular canal defect OMIM:619135
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Patent foramen ovale OMIM:618821
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Growth delay, Atrial septal defect, Cholelithiasis,... OMIM:614886
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Short stature, Edema OMIM:618348
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Atrial septal defec... OMIM:270450
Tetrasomy 15Q26
Atrial septal defect, Intrauterine growth retardation, Camptodactyly OMIM:614846
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Atrioventricular canal defect, Short stature ORPHA:2549
Al Kaissi Syndrome
Torticollis, Short stature, Postnatal growth retardation, Atrial septal defect, Intrauterine grow... OMIM:617694
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Congenital diaphragm... OMIM:600001
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Short stature, Death in childhood OMIM:616901
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hepatomegaly, Death in infancy, Short stature, Elevated circulating aspa... OMIM:608779
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... ORPHA:477817
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... OMIM:609053
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Mogs-Cdg
Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se... ORPHA:79330
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Short stature, Atrial septal defect, Intrauter... ORPHA:505237
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Short stature OMIM:617450
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Kne... OMIM:121050
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Trisomy 13
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Lethal Kniest-Like Dysplasia
Polyhydramnios, Edema, Mesomelic/rhizomelic limb shortening, Severe short-limb dwarfism, Atrial s... ORPHA:2347
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Rhizomelia, Ventricular septal defect, Short stature, Growth delay, Severe ... OMIM:614114
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Death in... OMIM:612938
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Abnormality of the abdominal organs, Growth delay, Intrauterine ... ORPHA:2409
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature OMIM:609654
Fetal Alcohol Syndrome
Atrial septal defect, Intrauterine growth retardation, Short stature, Congenital diaphragmatic he... ORPHA:1915
Noonan Syndrome 9
Short stature, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect ORPHA:93267
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Short stature OMIM:619721
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Noonan Syndrome 7
Short stature, Growth delay, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:613706
Woods Syndrome
Ventricular septal defect OMIM:615236
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep... ORPHA:2008
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... OMIM:617022
20Q13.33 Microdeletion Syndrome
Facial hypotonia, Abnormal cardiac ventricle morphology, Growth delay, Hematochezia, Atrial septa... ORPHA:261311
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral stenosis OMIM:617660
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
Kabuki Syndrome 2
Short stature, Postnatal growth retardation, Pulmonic stenosis, Atrial septal defect, Intrauterin... OMIM:300867
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Growth delay OMIM:614857
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Abnormal heart morphology, Perimembranou... ORPHA:363444
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Ventricular septal defect, Polyhydramnios, Hematochezia, Interface hepatitis, D... OMIM:243150
Warsaw Breakage Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular s... OMIM:613398
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Camptodactyly of finger, Cardiomegaly, Re... OMIM:602782
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Polyhydramnios, Atrial septal defect, Intrauterine growth retardation, Joint contr... OMIM:618005
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect, Exocrine pancreatic insufficiency ORPHA:452
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Short stature, Upper eyelid edema, Patent foramen... ORPHA:293939
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu... ORPHA:3426
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Short statu... ORPHA:84064
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Atrial septal defect, Intrauterine growth retardation, Arrhythmia, ... OMIM:619184
Emanuel Syndrome
Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma... ORPHA:96170
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Short stature ORPHA:85202
Filippi Syndrome
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth... ORPHA:3255
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Ventric... OMIM:614866
Diamond-Blackfan Anemia 5
Ventricular septal defect, Short stature OMIM:612528
Alazami Syndrome
Atrial septal defect, Postnatal growth retardation ORPHA:319671
Waardenburg Syndrome Type 3
Atrial septal defect, Camptodactyly of finger ORPHA:896
Verheij Syndrome
Ventricular septal defect, Short stature, Growth delay, Intrauterine growth retardation, Truncus ... OMIM:615583
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... OMIM:614823
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... ORPHA:1335
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Abnormal heart morphology, Macroglossia, Arthrogryposis... ORPHA:369891
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Tetralo... ORPHA:3304
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Short stature, Polyhydramnios, Camptodactyly, Atrial septal defect, In... OMIM:617360
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect OMIM:619769
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Short stature, Ventricular septal defect, Polyhydram... OMIM:301056
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:500159
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia OMIM:618929
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Intrauterine growth ret... OMIM:244300
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Proportionate short stature, Supraventricular tachycardia with an access... ORPHA:404443
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Intellectual Disability-Strabismus Syndrome
Short stature, Congenital diaphragmatic hernia, Polyhydramnios, Achilles tendon contracture, Cong... ORPHA:363528
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Growth dela... OMIM:615673
Cat Eye Syndrome
Ventricular septal defect, Short stature, Biliary atresia, Hypoplastic left heart, Total anomalou... OMIM:115470
Intellectual Developmental Disorder, Autosomal Dominant 48
Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Death in infancy, Ventricular septal defect, Polyhydramnios, Lymphedema, Splenomega... OMIM:235255
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Congestive heart failure, Flexion contracture, Macroglossia, Macroves... OMIM:617303
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
Costello Syndrome
Short stature, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pu... ORPHA:3071
Noonan Syndrome 3
Ventricular septal defect, Short stature, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosi... OMIM:609942
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ... OMIM:618109
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Intrauterine growth retardation, Abnormal mitral valve morphology, Short st... ORPHA:1292
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Short stature, Postnatal growth retardation, Intrauterine growth retar... OMIM:620113
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Growth delay, Ventricular septal defect, Short stature ORPHA:457193
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Short stature ORPHA:79113
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:2519
Stevenson-Carey Syndrome
Atrial septal defect, Joint contracture of the hand, Camptodactyly OMIM:611961
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect, Short stature, Disproportionate short-trunk short st... ORPHA:85194
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Thanatophoric Dysplasia Type 1
Atrial septal defect, Increased nuchal translucency, Lethal short-limbed short stature, Polyhydra... ORPHA:1860
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Camptodactyly of finger, Short stature ORPHA:1488
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Bdv Syndrome
Atrial septal defect, Delayed puberty OMIM:619326
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Short stature, Camptodactyly ORPHA:459061
Braddock-Carey Syndrome 1
Growth delay, Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Bohring-Opitz Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Mesomelic/rhizomelic limb shortening, F... OMIM:605039
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect, Short stature ORPHA:1458
17Q23.1Q23.2 Microdeletion Syndrome
Short stature, Pulmonary arterial hypertension, Congenital contracture, Atrial septal defect, Int... ORPHA:261279
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia, Growth delay, Short stature ORPHA:93947
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, S... OMIM:300998
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora... OMIM:612582
19P13.3 Microduplication Syndrome
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Pulmonary arterial hype... ORPHA:447980
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect ORPHA:79243
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Periportal fibrosis... OMIM:269860
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy, Polyhydramnios ORPHA:1790
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis OMIM:202650
22Q11.2 Duplication Syndrome
Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Pelger-Huet Anomaly
Mild short stature, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature OMIM:218350
Noonan Syndrome 13
Atrial septal defect, Lymphedema, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Ventricular septal defect, Short stature, Coronary artery fistula, Neonatal... OMIM:620024
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Short stature, Dextrotransposition of the great... OMIM:619995
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Mild postnatal growth retardation, Ventricular septal defect, Nonim... OMIM:235510
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Postnatal growth retardation, Camptodactyly, ... OMIM:300963
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Intrauterine growth retardation, Dextrocardia, Abnormal hemidiaphr... ORPHA:2257
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy, Growth delay OMIM:619121
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma... ORPHA:494344
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, ... ORPHA:435638
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Short stature, Congestive heart failur... OMIM:601808
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Short stature OMIM:145420
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Short stature, Congenital diaphragmatic hernia, Growth d... OMIM:614294
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:1926
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Growth delay, Limb hypertonia OMIM:616920
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Camptodactyly, Atrial ... OMIM:617602
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Ventricular septal defect, Congenital diaphragmatic hernia, Olig... OMIM:611812
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Codas Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Atrial septal defect, Atrioventricular ... OMIM:600373
Carpenter Syndrome 1
Ventricular septal defect, Short stature, Joint contracture of the hand, Transposition of the gre... OMIM:201000
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic c... OMIM:610505
Ogden Syndrome
Torticollis, Ventricular septal defect, Postnatal growth retardation, Cardiogenic shock, Arrhythmia ORPHA:276432
Shashi-Pena Syndrome
Atrial septal defect, Intrauterine growth retardation, Limb hypertonia OMIM:617190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... OMIM:253800
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Short stature, Ventricular septal defect, Polyhydramnios, Abn... OMIM:222470
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Growth delay, Hepatic failure OMIM:619758
Monosomy 13Q34
Epistaxis, Growth delay, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Short stature OMIM:610536
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pa... OMIM:251290
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Short stature, Situs inversus totalis, Intrauterine growth retardation... ORPHA:1908
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Short stature, Mitral valve prolapse OMIM:300986
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Postnatal growth retardation, Atrial septal defect, Intraut... ORPHA:251061
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Polyhydramnios, Ventricular septal defect, Short stature OMIM:615503
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Short stature, Skeletal muscle hypertrophy, Intrauterine g... OMIM:617164
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Short stature OMIM:617159
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Hepatosplenomegaly, Macroglossia, Camptodactyly, Atrial septal defect ORPHA:397709
Gm1 Gangliosidosis
Ventricular septal defect, Short stature, Camptodactyly of finger, Splenomegaly, Congestive heart... ORPHA:354
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Dehydration,... ORPHA:96191
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Ventricular septal defect OMIM:617061
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Ventricular septal defect, Contractures of the large joints ORPHA:3078
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Postnatal growth retardation OMIM:620242
Phaver Syndrome
Intrauterine growth retardation, Ventricular septal defect, Camptodactyly of finger ORPHA:2876
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Ventricular septal defect OMIM:610832
Distal Triplication 15Q
Flexion contracture, Abnormal heart morphology, Camptodactyly, Atrial septal defect, Intrauterine... ORPHA:314588
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios OMIM:219730
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Short stature OMIM:618325
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Fanconi Anemia, Complementation Group F
Atrial septal defect, Intrauterine growth retardation, Short stature, Polyhydramnios OMIM:603467
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Rhizomelia, Short stature, Cholangitis, Polyhydramni... OMIM:613610
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Splenomega... ORPHA:1655
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... ORPHA:261197
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Heart murmur, Ventricular septal defect, Short stature ORPHA:166035
Fanconi Anemia, Complementation Group B
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Death in infancy OMIM:300514
Pancreatic And Cerebellar Agenesis
Death in infancy, Secundum atrial septal defect, Flexion contracture, Severe intrauterine growth ... OMIM:609069
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Hypopl... ORPHA:79328
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Short stature, Growth delay, ... OMIM:615582
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Short stature, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal transluce... ORPHA:1052
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Dehydration, Hype... OMIM:263200
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Mitral regurgitation, Patent foramen ovale OMIM:225250
Wiedemann-Steiner Syndrome
Short stature, Postnatal growth retardation, Contracture of the distal interphalangeal joint of t... OMIM:605130
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Short stature, Growth delay, Abnormal cardiac septum morphology, Atria... ORPHA:209905
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Postnatal growth retardation, Embryonal rhabdomyosarcoma, Pulmonic stenosis, Atria... OMIM:257300
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... OMIM:158170
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Junc... OMIM:309801
Fibrochondrogenesis 1
Rhizomelia, Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent for... OMIM:228520
Zellweger Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Short stature, Jaundice, Hepatic failure ORPHA:912
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Hepatomegaly, Short stature, Dextrocardia OMIM:277380
Kury-Isidor Syndrome
Growth delay, Ventricular septal defect OMIM:619762
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Growth delay, Hy... OMIM:614653
Distal Deletion 3P
Intrauterine growth retardation, Atrioventricular canal defect, Short stature ORPHA:1620
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Growth ... ORPHA:3047
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Short stature, Shoulder... OMIM:274000
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Dysosteosclerosis
Ventricular septal defect, Short stature ORPHA:1782
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hydrops fetalis, Hepatic... OMIM:263520
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Short stature ORPHA:1770
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature ORPHA:261236
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia, Short stature ORPHA:96097
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Flexion contracture, Bicuspid aortic valve OMIM:619720
Buratti-Harel Syndrome
Atrial septal defect OMIM:619314
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Sev... OMIM:620005
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... OMIM:619418
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine ... OMIM:300712
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Ventricular septal defect ORPHA:217346
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Prolonged ne... OMIM:117550
Koolen-De Vries Syndrome
Ventricular septal defect, Short stature, Bicuspid aortic valve, Hypotrophy of the small hand mus... OMIM:610443
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... OMIM:619991
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Growth delay OMIM:614749
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Short stature, Ventricular septal defect, Shortened PR interval, ... OMIM:614947
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:309520
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Proportionate short stature, Postnatal growth retardation, Increased n... ORPHA:79345
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis... OMIM:607721
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Death in infancy, Morgagni diaphragmatic h... OMIM:613177
White-Sutton Syndrome
Facial hypotonia, Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Intrauter... OMIM:616364
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium, Neonatal short-limb short stature, Disproportionate short-li... OMIM:225500
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Short stature, Camptodactyly of finger, Growth d... ORPHA:261330
Joubert Syndrome 14
Growth delay, Hypertension, Ventricular septal defect, Intracranial hemorrhage OMIM:614424
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Polyhydramnios, Patent foramen ovale, Edema OMIM:607143
Rabson-Mendenhall Syndrome
Ventricular septal defect, Short stature, Cardiomyopathy, Severe postnatal growth retardation, Ma... ORPHA:769
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Short stature, Flexion contracture, Generalized limb muscle atrophy, Delayed puberty, Atrial sept... OMIM:618891
Zaki Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Short stature OMIM:619648
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Growth delay, Atrial septal defect, Hypertrophic cardiomyo... OMIM:600268
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Right bundle b... OMIM:617506
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
8P11.2 Deletion Syndrome
Short stature, Splenomegaly, Mitral valve prolapse, Growth delay, Atrial septal defect ORPHA:251066
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Postnatal growth retardation, Short stature OMIM:609625
Genitopatellar Syndrome
Hip contracture, Short stature, Knee flexion contracture, Atrial septal defect, Arthrogryposis mu... ORPHA:85201
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Short stature, Pulmonic stenosis OMIM:615802
Trisomy 18
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Camptodactyly of finge... ORPHA:3380
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Knee flexion contracture, Atrial septal defect, Annular pancreas OMIM:618162
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Short... ORPHA:508498
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... ORPHA:1780
Mckusick-Kaufman Syndrome
Ventricular septal defect, Short stature, Hypoplastic left heart, Atrial septal defect, Tetralogy... ORPHA:2473
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect OMIM:620194
Coffin-Siris Syndrome 4
Short stature, Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial... OMIM:614609
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Congenital diaphragmatic hernia, ... OMIM:245600
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short stature ORPHA:52055
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth... ORPHA:2209
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Short stature, Secundum atrial septal defect... ORPHA:1600
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Short stature, Valvular pulmonary stenosis, Atrial septal defect, Intraute... OMIM:300707
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Intrauterine growth retardation, Arthrogryposis multiplex congenita, Hepato... OMIM:620076
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Short stature OMIM:614207
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Fg Syndrome Type 1
Short stature, Progressive flexion contractures, Mitral valve prolapse, Atrial septal defect, Pul... ORPHA:93932
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Polyhydramnios, Hepatitis, Intrauterine growth retardation, Abnormal d... ORPHA:436252
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Growth delay, Mitral stenosis, Oligohydramnios ORPHA:96201
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Death in infancy, Bundle branch block, Ventricular septal de... ORPHA:373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Death in infancy, Polyhydramnios, Microvesicular hepatic steatosis... OMIM:300868
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Short stature, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal... OMIM:610759
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Short stature OMIM:619179
Cardiofaciocutaneous Syndrome
Short stature, Abnormal heart valve morphology, Lymphedema, Pulmonic stenosis, Atrial septal defe... ORPHA:1340
Spondyloocular Syndrome
Short stature, Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve OMIM:605822
Char Syndrome
Ventricular septal defect ORPHA:46627
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension OMIM:613834
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Ventricular septal defect ORPHA:77298
Mosaic Trisomy 16
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Abnormal heart ... ORPHA:1708
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Short stature, Elbow flexion contr... OMIM:178110
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, Intrauterine growth... OMIM:301030
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Smith-Lemli-Opitz Syndrome
Rhizomelia, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Polyhydram... ORPHA:818
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,... OMIM:142900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Intrauterine growth retardation, Disproportionate short stature ORPHA:2637
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Wrist flexion contracture ORPHA:436003
Recombinant 8 Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Camptodactyly of finger ORPHA:96167
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect OMIM:602482
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Ventricular septal defect OMIM:234050
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Death in infancy, Ventricular septal defect, Shoulder flexion contracture, Muscu... OMIM:210710
Distal Deletion 10Q
Scapular winging, Short stature, Postnatal growth retardation, Facial diplegia, Atrial septal defect ORPHA:96148
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Short stature, Heart murmur, Intracranial hemorrha... ORPHA:163979
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Postnatal growth retardation, Abnormal heart morpholog... ORPHA:1465
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Cardiofaciocutaneous Syndrome 1
Short stature, Polyhydramnios, Splenomegaly, Pulmonic stenosis, Atrial septal defect, Hypertrophi... OMIM:115150
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Cholelithiasis,... ORPHA:464738
Alg12-Cdg
Elevated hepatic transaminase, Edema, Polyhydramnios, Muscular ventricular septal defect, Biventr... ORPHA:79324
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Flexion ... ORPHA:17
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Postnatal growth retarda... OMIM:257920
Diamond-Blackfan Anemia 10
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic... OMIM:613309
Johanson-Blizzard Syndrome
Hepatomegaly, Generalized edema, Ventricular septal defect, Short stature, Portal hypertension, E... OMIM:243800
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1692
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Jacobsen Syndrome
Ventricular septal defect, Flexion contracture, Atrial septal defect, Intrauterine growth retarda... OMIM:147791
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of the ... OMIM:229850
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Camptodactyly OMIM:207410
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, Ca... OMIM:249420
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Atrioventricular canal defect OMIM:617088
Weill-Marchesani Syndrome 1
Short stature, Ventricular septal defect, Proportionate short stature, Mitral regurgitation, Pulm... OMIM:277600
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Postnatal growth retardation, Short stature, Camptodactyly ORPHA:261323
Mgat2-Cdg
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Reflex asystolic syncope, ... ORPHA:79329
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic sten... OMIM:618223
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Abnormal heart morphology, Hematochezia, Melena, Inte... ORPHA:79076
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Secundum atrial septal defect, Splenomegaly, Hepatosplenomegaly, G... OMIM:612541
Chops Syndrome
Ventricular septal defect, Short stature, Splenomegaly, Anomalous pulmonary venous return, Patent... OMIM:616368
Vici Syndrome
Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, M... OMIM:242840
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Polyhydramnios, Hydrops fetalis, Congenital diaphragmatic hernia OMIM:616546
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Generalized muscle hypertrophy, B... OMIM:139210
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Short stature, Mitral valve prolapse, Biventricula... OMIM:617402
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Short stature OMIM:612530
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Death in adolescence, Ventricular septal defect, Oligohydramnios OMIM:619229
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
C Syndrome
Hepatomegaly, Ventricular septal defect, Short stature OMIM:211750
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Short stature, Polyhydramnios, Camptodactyly, Atrial sep... OMIM:300373
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Ventricular septal defect, Short stature, Death in infancy ORPHA:1393
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Aplasia of the pectoralis majo... ORPHA:3138
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Pulmonary arteria... OMIM:620025
Ramos-Arroyo Syndrome
Atrial septal defect, Severe short stature, Xerostomia ORPHA:1051
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... OMIM:607323
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short stature OMIM:300472
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Short stature, Aortic regurgitation OMIM:620072
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Death in childhood OMIM:600460
Bardet-Biedl Syndrome 20
Atrial septal defect, Pancreatitis, Elevated hepatic transaminase OMIM:619471
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Growth delay ORPHA:1439
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Birth... ORPHA:464311
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... OMIM:118450
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Short stature, Facial palsy, Polyhydramnios, Pulmonary arterial hypertension, Prolonged neonatal ... OMIM:620186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Polyhydramnios, Congenital diaphragmatic hernia OMIM:614080
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Restrictive Dermopathy 1
Atrial septal defect, Limb joint contracture, Polyhydramnios, Flexion contracture, Stillbirth, Ne... OMIM:275210
Neurodevelopmental Disorder With Spasticity And Poor Growth
Short stature, Achilles tendon contracture, Knee flexion contracture, Growth delay, Patent forame... OMIM:618076
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature ORPHA:251014
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Ventricular septal defect, Dextrocardia, Camptodac... ORPHA:2461
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:222448
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature, Macroglossia, Arrhythmia, Tetral... ORPHA:261494
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Short stature OMIM:244450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Camptodactyly of finger OMIM:619951
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Increased nuchal translucency, Proximal muscle weakness in lower limbs, Atr... ORPHA:280633
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Sweeney-Cox Syndrome
Asplenia, Patent foramen ovale, Polyhydramnios OMIM:617746
Fontaine Progeroid Syndrome
Atrial septal defect, Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Short sta... OMIM:612289
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Short stature OMIM:300968
Neu-Laxova Syndrome 1
Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Campt... OMIM:256520
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Proportionate short stature, Growth delay, Macroglossia, Patent forame... OMIM:613457
Cohen Syndrome
Ventricular septal defect, Short stature, Mitral valve prolapse, Delayed puberty, Intrauterine gr... ORPHA:193
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short stature, Campt... OMIM:616894
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Xerostomia, Flexion contracture, Short stature ORPHA:398069
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Macroglossia, Distal arthr... OMIM:618268
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Small the... OMIM:105650
Lateral Meningocele Syndrome
Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve, Short stature OMIM:130720
Gabriele-De Vries Syndrome
Facial hypotonia, Intrauterine growth retardation, Distal arthrogryposis, Patent foramen ovale OMIM:617557
Opitz Gbbb Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Abnormal heart morphol... ORPHA:2745
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Foot jo... ORPHA:444072
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Short stature, Coronary sinus enlargement, Atrial septal defect, Paten... OMIM:619268
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion ORPHA:2526
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Death in childhood, Mac... OMIM:214100
Larsen Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:150250
Cerebellofaciodental Syndrome
Ventricular septal defect, Short stature, Mitral valve prolapse OMIM:616202
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Short stature, Flexion contr... OMIM:617140
Costello Syndrome
Ventricular septal defect, Short stature, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contr... OMIM:218040
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Short stature, Congestive heart failure, Hepatitis, Renovascular hypertension, Hepatosplenomegaly... ORPHA:391487
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Short stature, Interphalangeal joint contracture of fing... ORPHA:96334
Autosomal Recessive Robinow Syndrome
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o... ORPHA:1507
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral... ORPHA:163956
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Ventricular septal defect OMIM:617798
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Short stature, Abnormal hea... ORPHA:536471
Noonan Syndrome 1
Short stature, Ventricular septal defect, Lymphedema, Postnatal growth retardation, Chylothorax, ... OMIM:163950
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:212066
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Growth delay, Atrial s... ORPHA:96121
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Intrauterine growth retardation, Hypertension, Oligohydramnios OMIM:300896
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Short stature, Myoca... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Short stature, Myoca... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Short stature, Myoca... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Short stature, Myoca... ORPHA:881
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Short stature, Splenomegaly, Growth de... OMIM:270400
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Short stature OMIM:250410
Marshall-Smith Syndrome
Ventricular septal defect, Short stature, Premature ventricular contraction, Hypertension, Death ... OMIM:602535
Fanconi Anemia
Short stature, Growth delay, Abnormality of the liver, Abnormal cardiac septum morphology, Abnorm... ORPHA:84
Weill-Marchesani Syndrome 2
Short stature, Ventricular septal defect, Proportionate short stature, Congestive heart failure, ... OMIM:608328
Diamond-Blackfan Anemia
Ventricular septal defect, Short stature, Nonimmune hydrops fetalis, Abnormal heart morphology, G... ORPHA:124
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Shor... ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Ventricular septal defect OMIM:619306
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia ORPHA:268249
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Short stature, Intrauterine growth retardation, Joint contracture, Paten... OMIM:618460
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Hepatomegaly, Abnormality of the spleen, Growth delay, Atrial se... ORPHA:2538
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Limb Body Wall Complex
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... ORPHA:2369
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... ORPHA:488632
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect, Short stature, Postnatal growth retardation, In... ORPHA:2962
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Muscular ventricular s... OMIM:157800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Postnatal growth retardation, Growth delay, Macroglossia, Perimembrano... OMIM:301040
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Abnormality of the gallbladder,... ORPHA:280
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect, Short stature OMIM:227645
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Short stature, Camptodactyly OMIM:272950
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat... ORPHA:3472
Tarp Syndrome
Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot ORPHA:2886
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Polysp... OMIM:164280
Pallister-Hall Syndrome
Neonatal death, Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:146510
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Short stature, Intr... ORPHA:464306
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology ORPHA:369837
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Elbow flexion contractur... OMIM:117650
Degcags Syndrome
Hepatomegaly, Diaphragmatic eventration, Tachycardia, Ventricular septal defect, Polyhydramnios, ... OMIM:619488
Turnpenny-Fry Syndrome
Aortic regurgitation, Torticollis, Facial hypotonia, Polyhydramnios, Mitral valve prolapse, Tricu... OMIM:618371
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Unilateral facial palsy, Atrioventricular canal defect, Cyst of the ductus choledochus, Torticollis OMIM:619480
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Pulmonary arterial hyp... OMIM:618454
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Growth delay, Lo... ORPHA:459070
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Upper limb amyotrophy, Upper eyelid ede... OMIM:616268
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Postnatal growth retardation, Short stature, Polyhydramnios OMIM:213980
Robinow Syndrome
Ventricular septal defect, Short stature, Abnormal heart morphology, Pulmonic stenosis, Atrial se... ORPHA:97360
Focal Dermal Hypoplasia
Acute hepatic failure, Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Conge... ORPHA:2092
Diets-Jongmans Syndrome
Polyhydramnios, Congenital diaphragmatic hernia, Ventricular septal defect, Short stature OMIM:618846
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Short stature OMIM:619869
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prolapse, Mitra... ORPHA:363700
Prader-Willi Syndrome Due To Translocation
Short stature, Abnormal heart morphology, Intrauterine growth retardation, Patent foramen ovale, ... ORPHA:177907
Jacobsen Syndrome
Death in infancy, Ventricular septal defect, Short stature, Annular pancreas, Growth delay, Hypop... ORPHA:2308
Mosaic Trisomy 20
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... ORPHA:1724
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Situs inversus totalis, Death in childhood, Joint contr... OMIM:309500
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrial septal defect, Death in infancy, Short stature, Growth delay, Hypertension, Hydromyelia, D... OMIM:308205
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Ventricular septal defect ORPHA:251028
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitr... OMIM:271640
Okamoto Syndrome
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... ORPHA:2729
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Mitral regurgitation, Patent foramen ovale, Short stature, Disproportionate short-trunk short sta... ORPHA:457395
Opitz Gbbb Syndrome
Growth delay, Ventricular septal defect OMIM:300000
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Heart murmur, Oligohydramnios OMIM:618653
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Pulmonic stenos... OMIM:617137
Helsmoortel-Van Der Aa Syndrome
Short stature, Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitr... OMIM:615873
Omodysplasia 1
Atrial septal defect, Rhizomelia, Ventricular septal defect, Disproportionate short-limb short st... OMIM:258315
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Short stature, Intrauterine growth retardation, Annular pancreas, Pate... OMIM:616975
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia OMIM:250220
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Short stature OMIM:192430
Rubinstein-Taybi Syndrome 1
Accessory spleen, Ventricular septal defect, Short stature, Polyhydramnios, Postnatal growth reta... OMIM:180849
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Progressive flexion contractures ORPHA:522077
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo... OMIM:608670
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Intrauterine growth retar... ORPHA:33364
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Postnatal growth retardati... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Postnatal growth retardati... ORPHA:363958
Distal Deletion 12Q
Short stature, Elbow flexion contracture, Biliary atresia, Growth delay, Congenital hypertrophy o... ORPHA:96149
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect, Short stature OMIM:619575
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Short stature, Flexion contracture, Double outlet right ... OMIM:300166
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... OMIM:601776
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conduction abnormality, ... ORPHA:353281
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Postnatal... OMIM:268300
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... OMIM:312870
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse OMIM:617107
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Postnatal growth retardation, Splenopancreatic fusion, Macroglossia, Atrial septa... OMIM:269150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Patent foramen ovale, Short stature OMIM:300990
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Short stature, Biliary tract ... OMIM:194190
Tetrasomy 9P
Absent gallbladder, Pericarditis, Myositis, Dextrocardia, Raynaud phenomenon, Jaundice, Biliary a... ORPHA:3310
Restrictive Dermopathy
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Transposition... ORPHA:1662
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, Hypoplastic left heart, Oligohydramnios ORPHA:141127
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:619525
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Short stature, Polyhydramnios, Postnatal growth... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Short stature, Polyhydramnios, Postnatal growth... ORPHA:353277
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Short stature, Pulmonic stenosis OMIM:601321
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Phace Association
Ventricular septal defect OMIM:606519
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth retardation... OMIM:613355
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Short statu... ORPHA:268261
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Camptoda... OMIM:616145
Chromosome 13Q14 Deletion Syndrome
Growth delay, Ventricular septal defect, Patent foramen ovale OMIM:613884
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Arthrogryposis multiplex congenita OMIM:619512
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect, Short stature ORPHA:2751
Hajdu-Cheney Syndrome
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Short stature, Splenomegaly, Delayed pu... ORPHA:955
Poland Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Abnormalit... ORPHA:2911
Peters-Plus Syndrome
Rhizomelia, Ventricular septal defect, Diastasis recti, Bilobate gallbladder, Postnatal growth re... OMIM:261540
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Mac... ORPHA:261337
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Short stature, Congestive heart failure, Abnormal heart morphology, Ma... ORPHA:444077
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Cornelia De Lange Syndrome 1
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Elbow flexion contract... OMIM:122470
Esophageal Atresia
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios ORPHA:1199
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Distal arthrogryposis, Atrial septal defect, Intrauteri... ORPHA:672
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... ORPHA:2162
Neurooculorenal Syndrome
Dextrocardia, Postnatal growth retardation, Mitral valve prolapse, Tetralogy of Fallot with pulmo... OMIM:620305
Microphthalmia, Syndromic 3
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:206900
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Camptodactyly, Atrial sep... OMIM:609192
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Abnormal heart morphology, Pulmo... ORPHA:438213
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Portal hypertension, Flexion con... OMIM:194050
Apert Syndrome
Rhizomelic arm shortening, Overriding aorta, Ventricular septal defect OMIM:101200
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... OMIM:612474
Keutel Syndrome
Hypertension, Miscarriage, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Aortic regurgitation, Torticollis, Ventricular septal defect, Bicu... OMIM:619475
Ctcf-Related Neurodevelopmental Disorder
Mitral regurgitation, Joint contracture of the 5th finger, Prolonged neonatal jaundice, Atrial se... ORPHA:363611
Cornelia De Lange Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Increased nuchal trans... ORPHA:199
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Torticollis, Total anomalous pulmonary venous return, Knee flexion contracture OMIM:609945
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short stature, Aplasia of the right hemidiaphragm, Polyhydramnios, Epistaxis, Oligohydramnios, In... OMIM:619841
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Flexion contracture, Patent ... OMIM:263650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Hepatic ... OMIM:619503
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Knee flexion contracture, Transpos... OMIM:614976
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Patent foramen ovale, Asplenia, Short stature ORPHA:221120
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... OMIM:214800
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... OMIM:619472
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar... ORPHA:506358
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Proportionate short stature, Abnormal heart morpho... ORPHA:500150
Coffin-Siris Syndrome 1
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Postnatal growth retar... OMIM:135900
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Short stature OMIM:154400
Mowat-Wilson Syndrome
Short stature, Ventricular septal defect, Generalized muscle hypertrophy, Abnormal heart morpholo... OMIM:235730
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Short stature OMIM:619727
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Kabuki Syndrome 1
Ventricular septal defect, Short stature, Postnatal growth retardation, Growth delay, Atrial sept... OMIM:147920
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, Intrauterine growth... OMIM:619522
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale ORPHA:477993
Hajdu-Cheney Syndrome
Ventricular septal defect, Short stature OMIM:102500
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... OMIM:606170
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Otopalatodigital Syndrome, Type Ii
Short stature, Elbow contracture, Postnatal growth retardation, Stillbirth, Atrial septal defect OMIM:304120
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Short stature, Cyst of the ductus choledochus, Cardiomyopathy, Delayed puberty, Atrial septal defect ORPHA:480880
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature OMIM:259770
Femoral-Facial Syndrome
Truncus arteriosus, Short stature, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Vater/Vacterl Association
Ventricular septal defect, Postnatal growth retardation, Transposition of the great arteries, Int... OMIM:192350
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Short stature, Facial palsy, Heart murmur, Tetralogy of Fallot, Pa... OMIM:619325
Floating-Harbor Syndrome
Short stature, Tetralogy of Fallot, Growth delay, Atrial septal defect, Mesocardia ORPHA:2044
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Short stature OMIM:136140
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect OMIM:615948
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Camptodactyly, Atrial sep... OMIM:610168
Townes-Brocks Syndrome
Short stature, Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Delayed p... ORPHA:857
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect, Delayed puberty OMIM:181450
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... ORPHA:821
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hern... OMIM:601803
Digeorge Syndrome
Ventricular septal defect, Short stature, Splenomegaly, Cholelithiasis, Truncus arteriosus, Tetra... OMIM:188400
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Growth delay, Cardiomyo... OMIM:216340
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Ventricular septal defect ORPHA:513456
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short stature, Secundum atrial septal defect, Subarterial ventricula... ORPHA:99646
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stat... ORPHA:261552
Craniofacial Microsomia 1
Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial musculature OMIM:164210

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 Srsf10

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 Srsf10.

No publications found that use IMPC mice or data for Srsf10.

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
Srsf10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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