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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
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Postnatal growth retardation, Peripheral edema, Hepatomegaly, Pulmonary ... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Cirrhotic Cardiomyopathy
Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent... ORPHA:57777
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car... OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Peripheral edema, Hepatomegaly, Reduced left ventricular ejection... ORPHA:1677
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Ectopia of the ... OMIM:613751
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Total anomalous ... OMIM:613854
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Hypoplastic spleen, N... OMIM:619313
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Spinal Muscular Atrophy, Type I
Death in childhood, Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricul... OMIM:253300
Eng-Strom Syndrome
Short stature, Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defec... ORPHA:1937
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Transposition of the great arteries, Complete ... OMIM:217095
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Death in infancy, Abno... ORPHA:1354
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Atrial sept... OMIM:607941
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Sonoda Syndrome
Short stature, Ventricular septal defect OMIM:270460
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Secundum atrial septal defect, Muscular ventricular s... OMIM:620203
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concent... OMIM:614876
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Short stature, Atrial septal defect, Ventricular septal defect OMIM:249670
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova... OMIM:619343
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Cholestasis, Pleural effusion, Pulmonary arterial hypertension, Tricuspid regurgita... OMIM:620233
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Microcephaly-Cardiomyopathy Syndrome
Short stature, Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation ORPHA:2515
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Portal inflammation, Elevated circulating alanine aminotransferase concentrat... OMIM:613759
White Forelock With Malformations
Atrial septal defect OMIM:277740
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Hepatosplenomegaly, Edema, Atrial septal defect, Biventricular hypert... ORPHA:101028
Nemaline Myopathy 9
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Nemaline bodies OMIM:615731
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Pulmoni... OMIM:619702
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Hypertension, Sinus tachycardia, Right bundle branch block, Pulmonary ar... OMIM:614008
Polysyndactyly With Cardiac Malformation
Stillbirth, Polyhydramnios, Hepatic cysts, Atrial septal defect, Ventricular septal defect OMIM:263630
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... ORPHA:3092
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Congenital Myopathy 11
Polyhydramnios, Elevated circulating hepatic transaminase concentration, Patent foramen ovale, We... OMIM:619967
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Congestive heart failure, Prolonged QT interval, Noncompaction card... OMIM:610198
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:614326
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Catel-Manzke Syndrome
Short stature, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Feingold Syndrome Type 2
Short stature, Ventricular septal defect ORPHA:391646
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Complete atriov... OMIM:264480
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal def... OMIM:616276
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Pulmonic stenosis, Atrial septal defect, Arthrogryposis... OMIM:614262
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Growth delay, Atrial septal defect, Short stature ORPHA:52056
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Intra... OMIM:619003
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Intrauterine growth retardation, Ventricular... ORPHA:1296
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
Decreased liver function, Hepatic fibrosis, Ventricular septal defect ORPHA:306550
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Atrial se... ORPHA:49827
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect, Neonatal death OMIM:615524
Meier-Gorlin Syndrome 7
Meconium peritonitis, Heart block, Short stature, Growth delay, Atrial septal defect, Ventricular... OMIM:617063
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Atrial septal defect OMIM:113301
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Growth delay, Bicuspid aortic valve, Atrial septal defect, Intrauterine growth ret... OMIM:617744
Partial Atrioventricular Septal Defect
Atrial flutter, Abnormal tricuspid valve morphology, Angina pectoris, Bacterial endocarditis, Syn... ORPHA:1330
Down Syndrome
Atrioventricular canal defect, Patent foramen ovale, Ventricular septal defect, Ebstein anomaly o... OMIM:190685
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Short stature OMIM:618499
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS... OMIM:611174
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Atrial septal defect, Ventricular septal defect, Hepatic s... OMIM:615996
Leopard Syndrome 1
Delayed puberty, Scapular winging, Delayed menarche, Hypertrophic cardiomyopathy, Pulmonic stenos... OMIM:151100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ventricular septal defect, Neonatal death, Hepatomegaly OMIM:613730
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Death in childhood, Elevated circulating alanine aminotransferase conce... OMIM:620609
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Patent foramen ovale, Hepatic fibrosis, Hepato... OMIM:606003
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Proportionate short stature OMIM:617044
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmon... OMIM:620294
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor... ORPHA:90308
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Skeletal muscle atrophy, Edema, Dilated cardiomyopathy... OMIM:607598
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Li-Campeau Syndrome
Short stature, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Noonan Syndrome 8
Polyhydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, ... OMIM:615355
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Short stature, Arrhythmia, Atrial septal defect, Ventricu... OMIM:249270
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Overriding aorta, Atrial septal defect, Ventricular ... OMIM:601927
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Death in childhood, Patent foramen ovale, Hypertrophic cardiomyopathy, Elevated cir... OMIM:614582
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Hamel Cerebro-Palato-Cardiac Syndrome
Short stature, Atrial septal defect, Death in infancy ORPHA:93946
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death, Tetralogy of Fallot, Complete atrioventricular canal defect OMIM:617925
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Stuve-Wiedemann Syndrome 2
Stillbirth, Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Camp... OMIM:619751
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Hydrolethalus Syndrome 1
Stillbirth, Polyhydramnios, Accessory spleen, Intrauterine growth retardation, Agenesis of the di... OMIM:236680
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Atrial septal defect, Ventricular septal defect OMIM:618330
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Death in infancy, Neonatal death, Nonimmune hydrops fet... OMIM:618839
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Atrial septal defect, Ventricular ... OMIM:615279
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Polyhydramnios, Oligohydramnios, Aortic regurgitation OMIM:615476
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Death in infancy, Neonatal death, Nonimmun... OMIM:618835
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Ventricular hypertrophy, Pulmonary arterial hypertension, Short ... OMIM:300887
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:614779
Tyshchenko Syndrome
Polyhydramnios, Pulmonic stenosis, Short stature, Intrauterine growth retardation, Atrial septal ... OMIM:615102
Glycogen Storage Disease Iv
Cirrhosis, Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hyperten... OMIM:232500
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retardation, Atrial sept... ORPHA:290
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary ci... OMIM:208540
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Hadziselimovic Syndrome
Ventricular hypertrophy, Short stature, Tetralogy of Fallot, Atrial septal defect, Ventricular se... OMIM:612946
Fetal Trimethadione Syndrome
Transposition of the great arteries, Tetralogy of Fallot, Intrauterine growth retardation, Atrial... ORPHA:1913
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Short stature, Ventricular septal defect, Mitral regurg... ORPHA:3449
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Cholestasis, As... OMIM:608104
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fi... OMIM:616867
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Growth delay, Tetralogy of Fallot, Mitral valve prolapse, Atrial septal ... OMIM:612561
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Ciliary Dyskinesia, Primary, 40
Congenitally corrected transposition of the great arteries, Situs inversus totalis, Atrioventricu... OMIM:618300
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Atrial septal defect, Short stature OMIM:620211
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... ORPHA:1120
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ... OMIM:613870
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of r... OMIM:142900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation ORPHA:79094
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Sh... OMIM:252011
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Meckel Syndrome, Type 7
Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat... OMIM:267010
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Atrial septal ... ORPHA:500533
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Anomalous pulmonary venous return,... ORPHA:392
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Truncus arteriosus, Dysplastic aortic... ORPHA:508488
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Noonan Syndrome 12
Polyhydramnios, Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic stenosis OMIM:618624
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Pulmonary arterial hype... ORPHA:210122
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Peau d'orange, ... OMIM:614576
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Ventricular septal defect, Abnormal tricuspid valve morphology, Hydrops fetalis ORPHA:3405
20P12.3 Microdeletion Syndrome
Short stature, Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Lymphatic Malformation 6
Facial edema, Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, ... OMIM:616843
Chromosome 5Q12 Deletion Syndrome
Postnatal growth retardation, Patent foramen ovale, Hypotension, Increased nuchal translucency, A... OMIM:615668
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Camptodactyly, Pulmonic stenosis, Growth delay, Tetralogy of Fallot... OMIM:179613
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydro... OMIM:617021
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Short stature, Flexion contractu... ORPHA:88630
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening ORPHA:96190
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the 5th finger, Congenital contracture, Short stature, Abnormal heart morpho... ORPHA:352490
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Coffin-Siris Syndrome 5
Intrauterine growth retardation, Atrial septal defect, Short stature OMIM:616938
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:616589
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale, Severe short stature, Oligohydramnios OMIM:616854
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Prolonged QT interval, Elevated circulating hepatic transaminase ... ORPHA:26793
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Polyhydramnios ORPHA:466926
Diamond-Blackfan Anemia 4
Growth delay, Atrial septal defect, Short stature OMIM:612527
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Disproportionate short-limb short sta... ORPHA:2772
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Atrial septal defect, Elevated circulating hepatic transaminase concent... OMIM:615160
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Short stature, Abnormal heart morphology, Neonatal death, Small th... OMIM:613390
Roifman Syndrome
Postnatal growth retardation, Hepatomegaly, Noncompaction cardiomyopathy, Short stature, Hip cont... OMIM:616651
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Splenomegaly, Ventricular septal defect OMIM:620210
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Death in childhood, Dextrocardia, Cardiac total ... OMIM:608978
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder g... OMIM:615156
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Lymphatic Malformation 13
Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertension, Neonatal death, Nonim... OMIM:620244
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Alagille Syndrome 2
Cholestatic liver disease, Hypertension, Cholestasis, Pulmonic stenosis, Tetralogy of Fallot, Atr... OMIM:610205
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Growth delay, Ventricular septal defect, Olig... ORPHA:139466
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect ORPHA:401935
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Atrial septal defect, Hypoplastic right heart, Ventricular septa... OMIM:618142
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Elevated circulating alanine aminotransferase concentration... OMIM:620300
Joubert Syndrome 18
Intrauterine growth retardation, Intrahepatic biliary atresia, Ventricular septal defect, Camptod... OMIM:614815
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Bradycardia, Hypertrophic cardiomyopathy, Pericardi... OMIM:618775
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia,... OMIM:314390
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Multiple muscular ventricular septal defects, Short stature, Per... OMIM:620070
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Congestive heart failure, Atrial flutter, Pulmonary edema, Red... ORPHA:980
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
3C Syndrome
Postnatal growth retardation, Atrioventricular canal defect, Abnormal tricuspid valve morphology,... ORPHA:7
Meckel Syndrome, Type 4
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Bile duct proli... OMIM:611134
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Hypoplastic left atrium, Truncus arterios... OMIM:601186
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Ventricular septal defect, Postnatal growth retardation ORPHA:3369
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Polyhydramnios, Diastasis recti, Abnormal heart morphology, Ventric... ORPHA:254534
Thanatophoric Dysplasia
Polyhydramnios, Disproportionate short-limb short stature, Increased nuchal translucency, Intraut... ORPHA:2655
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Abnormal heart morphology, Te... ORPHA:2847
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Noonan Syndrome 5
Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Arrhythmia, Atrial... OMIM:611553
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Anasarca, Atrioventricular canal defect, Jaundice, Hepatomegaly, Hypertensi... OMIM:619573
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Dehydration, Asc... ORPHA:1667
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Atrioventricular canal defect, Short stature, Growth delay, Intraut... OMIM:613792
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Rhizomelia, Hypertrophic cardiomyopathy, Severe short-limb dwarfism, Atrial septal ... ORPHA:1842
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Polyhydramni... ORPHA:363705
Lessel-Kreienkamp Syndrome
Pulmonic stenosis, Bicuspid aortic valve, Patent foramen ovale, Atrial septal defect OMIM:619149
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Ventricular septal defect, Increased nuchal translucency OMIM:617635
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Truncus arteriosus, Death in infancy, Systolic heart murmur, Generalized edema... OMIM:617478
Megalencephaly
Atrial septal defect ORPHA:2477
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Increased nuchal translucency, S... OMIM:618870
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Short stature ORPHA:75389
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Stillbirth, Hepatomegaly, Death in childhood, Polyhydramnios, Cardiomyo... OMIM:614922
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Short stature, Intrauterine growth retardation, ... OMIM:616777
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morphology, Abnormal heart m... ORPHA:485405
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Atrial reentry tachycar... OMIM:270100
Abruzzo-Erickson Syndrome
Short stature, Atrial septal defect ORPHA:921
Trigonocephaly With Short Stature And Developmental Delay
Short stature, Ventricular septal defect OMIM:314320
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Short stature, Right ventricular hypertrophy, Atrial septal defect, Ventric... OMIM:614261
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Atrial septal defect, Arterial rupture OMIM:619115
Arthrogryposis Multiplex Congenita 6
Death in childhood, Polyhydramnios, Nemaline bodies, Death in infancy, Increased variability in m... OMIM:619334
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot, Short stature ORPHA:1166
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, Atrial septal defect ORPHA:1035
Methimazole Embryofetopathy
Intrauterine growth retardation, Polyhydramnios, Ventricular septal defect ORPHA:1923
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Intellectual Developmental Disorder, Autosomal Dominant 21
Short stature, Atrial septal defect OMIM:615502
Kagami-Ogata Syndrome
Hepatomegaly, Polyhydramnios, Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis... OMIM:608149
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Polyhydramnios, Facial hypotonia OMIM:611087
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Scapular w... ORPHA:500
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect, Postnatal growth retardation OMIM:272440
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect, Abnormal mesentery morphology ORPHA:2256
Transketolase Deficiency
Hepatomegaly, Patent foramen ovale, Proportionate short stature, Abnormal heart morphology, Atria... ORPHA:488618
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Rhabdomyolysis, Neonatal death, Dehydration OMIM:602199
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Asplenia, Pulmonic stenosis, Ventricular septal def... OMIM:619123
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Pontocerebellar Hypoplasia, Type 17
Intrauterine growth retardation, Secundum atrial septal defect, Ventricular septal defect, Limb h... OMIM:619909
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Intrauterine growth retardation, Atrial septal defect ORPHA:521308
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Short stature, Secundum atrial septal defect, Atrial se... OMIM:600987
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Pulmon... OMIM:614300
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Cholestasis, Biliary cirrhosis, Nodular regenerat... OMIM:620454
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Postnatal growth retardation, Left-to-right shunt, Cerebral edema, Left ventricular hypertrophy, ... OMIM:620510
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Increased nuchal translucency, Abnormal heart morphology, Atrial septal def... OMIM:618494
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Thanatophoric Dysplasia Type 2
Short stature, Atrial septal defect, Polyhydramnios, Increased nuchal translucency ORPHA:93274
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Short stature, Splenomegaly, Hepatic fibrosis, Ventricular septal defe... OMIM:615630
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Ventricular septal defect, Short stature OMIM:608572
Desbuquois Syndrome
Disproportionate short-limb short stature, Camptodactyly of finger, Severe short stature, Aplasia... ORPHA:1425
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal defect, Asplenia, Pul... OMIM:619657
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hydrops fetalis, Ascites, Pericardial effusion, Splenomegaly, Atrial septal defect OMIM:608776
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Camptodactyly OMIM:301039
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricular septal defec... OMIM:603387
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Atrial s... ORPHA:261183
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Pleural effus... OMIM:617397
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Flexion ... OMIM:616897
King-Denborough Syndrome
Ventricular septal defect, Short stature, Centrally nucleated skeletal muscle fibers, Muscle fibe... OMIM:619542
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Congestive heart failure, Tricuspid atresia, Partial anomalous... ORPHA:185
Potocki-Lupski Syndrome
Short stature, Atrial septal defect, Patent foramen ovale OMIM:610883
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Arrhythmia, Intrauterine growth retarda... ORPHA:254346
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short stature, Atrial septal defect, Ventricular septal defect ORPHA:261190
Coffin-Siris Syndrome 6
Short stature, Atrial septal defect, Diaphragmatic eventration OMIM:617808
Noonan Syndrome 10
Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pulmonic stenosis, ... OMIM:616564
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Skeletal muscle atrophy, Edema, Arthrogryposis mul... OMIM:253310
Alagille Syndrome
Delayed puberty, Hepatomegaly, Hypertension, Cholestasis, Telangiectasia of the skin, Intrauterin... ORPHA:52
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Death in infancy OMIM:147800
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Short stature, Flexion contracture, Intrauterine growth retardation, Atrial septal defect, Ventri... OMIM:617452
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Patent foramen ovale, Limb joint contracture, Intrauterine growth retardation, A... OMIM:620327
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Atrial septal defect, Ventricular... ORPHA:2970
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Patent foramen ovale, Tetralogy of Fallot, Double outlet... OMIM:618316
Fanconi Anemia, Complementation Group Q
Growth delay, Primum atrial septal defect, Biliary atresia, Short stature OMIM:615272
Microcephaly 30, Primary, Autosomal Recessive
Intrauterine growth retardation, Secundum atrial septal defect, Increased nuchal translucency OMIM:620183
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Coffin-Siris Syndrome 7
Polyhydramnios, Patent foramen ovale, Short stature, Bicuspid aortic valve, Ventricular septal de... OMIM:618027
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Oligo... OMIM:311900
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Truncus arteriosus, Aortic valve stenosis, Pulmonic... OMIM:609029
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Rhizomelia OMIM:618821
Diamond-Blackfan Anemia 7
Polyhydramnios, Growth delay, Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine gr... OMIM:612562
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Tricuspid regurgitation OMIM:615879
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Short stature, Growth de... OMIM:614886
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect OMIM:619908
Noonan Syndrome 4
Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Atrial septal defe... OMIM:610733
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Dysplastic pulmonary valve, Right ventricular dilatation, Tricuspid... OMIM:612863
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Pulmonary insuffici... OMIM:265380
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Atrial septal defect, Postnatal growth retardation, Heart murmur ORPHA:2728
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Atrioventricular canal defect, Death in infancy OMIM:619135
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Transposition of the great arteri... ORPHA:2255
Galloway-Mowat Syndrome 7
Short stature, Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia, Short stature OMIM:617450
Tetrasomy 15Q26
Intrauterine growth retardation, Atrial septal defect, Camptodactyly OMIM:614846
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Patent foramen ovale, Camptodactyly, Mitral valve prolapse, Mitral regurgitation OMIM:615539
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Short stature, Growth delay, Severe short stature, Intrauterine growth reta... OMIM:270450
Oculoauriculovertebral Spectrum With Radial Defects
Short stature, Atrioventricular canal defect, EMG: myopathic abnormalities ORPHA:2549
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Bi... ORPHA:477817
Contractural Arachnodactyly, Congenital
Elbow flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Cam... OMIM:121050
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Jau... OMIM:608779
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Short stature, Ventricular septal defect, Death in childhood, Death in infancy OMIM:616901
Al Kaissi Syndrome
Postnatal growth retardation, Torticollis, Short stature, Intrauterine growth retardation, Atrial... OMIM:617694
Mogs-Cdg
Pulmonary edema, Hepatomegaly, Polyhydramnios, Generalized edema, Hepatosplenomegaly, Left ventri... ORPHA:79330
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Short stature, Limb joint contracture, Intrauterine growth retardation, Atrial septal defect, Ven... ORPHA:505237
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Short stature, Intrauterine growth retardation, Atrial septal defect, Ventr... OMIM:609053
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Tendon thickening... ORPHA:230851
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Short stature, Hypoplastic left heart OMIM:619721
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature OMIM:609654
Trisomy 13
Intrauterine growth retardation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect ORPHA:3378
Lethal Kniest-Like Dysplasia
Polyhydramnios, Mesomelic/rhizomelic limb shortening, Severe short-limb dwarfism, Edema, Atrial s... ORPHA:2347
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Abnormal heart morphology, Atrial septal ... OMIM:175700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia ORPHA:93267
Acrocardiofacial Syndrome
Truncus arteriosus, Death in infancy, Camptodactyly of finger, Mitral stenosis, Tetralogy of Fall... ORPHA:2008
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Aortic regurgitation, Severe intrauterine growth retardation, Short stature, Growth d... OMIM:614114
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Short stature OMIM:616559
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Ventricular septal defect, Death in childhood, Hypertrophic card... OMIM:612938
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Intrauterine growth retardation, Short sta... ORPHA:1915
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Woods Syndrome
Ventricular septal defect OMIM:615236
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormality of the abdominal orga... ORPHA:2409
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Pulmonic stenosis, Growth delay, Short stature, Atrial septal defect OMIM:613706
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal liver lobulation, Abnormal heart valve mo... ORPHA:99776
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:329224
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Short stature, Mitral stenosis, Atrial septal defect, Hypoplastic left heart OMIM:617660
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Torticollis, Ventricular septal defect, Increased variability in muscle fiber di... OMIM:617022
Noonan Syndrome 2
Atrioventricular canal defect, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, Hypertrophic... OMIM:605275
Keutel Syndrome
Short stature, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
20Q13.33 Microdeletion Syndrome
Facial hypotonia, Abnormal cardiac ventricle morphology, Growth delay, Hematochezia, Atrial septa... ORPHA:261311
Lujan-Fryns Syndrome
Camptodactyly of finger, Atrial septal defect ORPHA:776
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Warsaw Breakage Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Ventricular septal defect, Tetralo... OMIM:613398
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ven... ORPHA:284169
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Atrial septal defect, Pulmonary arterial hypertension OMIM:614857
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Exocrine pancreatic insufficiency, Death in infancy ORPHA:452
Kabuki Syndrome 2
Postnatal growth retardation, Atrioventricular canal defect, Pulmonic stenosis, Short stature, In... OMIM:300867
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in childhood, Polyhydramnios, Death in infancy, Hematochezia, Interface hepatitis, Intraute... OMIM:243150
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Left... ORPHA:363444
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Patent foramen ovale, Short stature, Epistaxis, Upper eyelid... ORPHA:293939
Emanuel Syndrome
Congenital diaphragmatic hernia, Truncus arteriosus, Ventricular septal defect, Aortic valve sten... ORPHA:96170
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology OMIM:615009
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Short stature, Joint contracture, Intrauterine growth retardation, Atrial septal ... OMIM:618005
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Patent foramen ovale, Arrhythmia, Intrauterine growth retardation, ... OMIM:619184
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Jaundice, Hepatomegaly, Aortic regurgitation, Intrahepatic biliary dysgenesis, C... OMIM:614866
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Camptodactyly, Short stature, Abnormal heart morphology, Arthrogryposis-lik... ORPHA:369891
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonic stenosis, Short stature, Tetralogy of Fallot, Heart mur... ORPHA:3426
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect ORPHA:896
Filippi Syndrome
Short stature, Growth delay, Severe short stature, Intrauterine growth retardation, Ventricular s... ORPHA:3255
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Aortic regurgitation, Hepatic fibrosis, Short stature, Abnormal heart mo... ORPHA:84064
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion cont... OMIM:602782
Diamond-Blackfan Anemia 5
Short stature, Ventricular septal defect OMIM:612528
Alazami Syndrome
Postnatal growth retardation, Atrial septal defect ORPHA:319671
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:500159
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Polyhydramnios, Arthrogryp... OMIM:301056
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal pericardium morphology, Tetralogy of Fallot, Absent gal... ORPHA:1335
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Aortic Valve Disease 2
Aortic regurgitation, Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Bicuspid ao... OMIM:614823
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Polyhydramnios, Abnormal heart morphology, Neonatal death OMIM:619362
Verheij Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Ventricular sep... OMIM:615583
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Pleural effusion, Increased nuchal translucency, Abnormal heart mo... ORPHA:453499
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Overriding aorta, Atrial s... ORPHA:3304
Tatton-Brown-Rahman Syndrome
Supraventricular tachycardia with an accessory connection mediated pathway, Tricuspid regurgitati... ORPHA:404443
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Flexion contracture, Hypertrophic cardiomyopathy OMIM:619383
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Polyhydramnios, Camptodactyly, Short stature, Intrauterine growth retardation, Atrial septal defe... OMIM:617360
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect OMIM:619769
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ... ORPHA:70
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation OMIM:618929
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation OMIM:617751
Noonan Syndrome 3
Tricuspid valve prolapse, Polyhydramnios, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulm... OMIM:609942
Intellectual Developmental Disorder, Autosomal Recessive 65
Contracture of the proximal interphalangeal joint of the 4th finger, Atrial septal defect, Secund... OMIM:618109
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 3rd finger, Knee flexion contracture, Ve... OMIM:617201
Kapur-Toriello Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Atrial septal defect, Ventricular septa... OMIM:244300
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Congenital finger flexion contractures, Short st... ORPHA:363528
Cat Eye Syndrome
Tricuspid atresia, Biliary atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, S... OMIM:115470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Pancreatic lymphangiectasis, Lymphedema, Ascites, Death in infancy,... OMIM:235255
Myopathy With Extrapyramidal Signs
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Calf muscle hypertrophy, G... OMIM:615673
Costello Syndrome
Polyhydramnios, Thickened Achilles tendon, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short ... ORPHA:3071
Truncus Arteriosus
Pulmonary edema, Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal... ORPHA:3384
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Abnormal hemidiaphragm morphology, Secundum atrial septal defect... ORPHA:2257
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Death in childhood, Hyp... OMIM:617303
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Spondylo-Ocular Syndrome
Short stature, Ventricular septal defect, Disproportionate short-trunk short stature, Facial hypo... ORPHA:85194
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal... ORPHA:371428
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Hardikar Syndrome
Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Atrial septal defect ORPHA:79113
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Intrauterine growth retardation, Abnormal mitral valve morphology, Atrial septal defect, Short st... ORPHA:1292
Stevenson-Carey Syndrome
Atrial septal defect, Camptodactyly, Joint contracture of the hand OMIM:611961
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Growth delay, Atrial septal defect, Macroglossia, Short stature ORPHA:93947
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Transposition of the great arteries, Left ventricular outflow tract obs... ORPHA:99050
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Short stature, Atrial septal defect, Ventricular septal defect, Growth delay ORPHA:457193
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Pulmonic stenosis, Atrial septal defect OMIM:618282
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:2519
Bdv Syndrome
Delayed puberty, Atrial septal defect OMIM:619326
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Patent foramen ovale, Short stature, Intrauterine growth retardatio... OMIM:620113
Braddock-Carey Syndrome 1
Growth delay, Ventricular septal defect, Aortic valve prolapse, Camptodactyly OMIM:619980
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Secundum atrial septal defect OMIM:202650
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Polyhydramnios, Short stature, Growth delay, Intrauterine growth retardation, Atrial septal defec... OMIM:300998
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Short stature ORPHA:1488
Thanatophoric Dysplasia Type 1
Polyhydramnios, Atrial septal defect, Lethal short-limbed short stature, Increased nuchal translu... ORPHA:1860
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Camptodactyly, Short stature ORPHA:459061
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension, Congenital contracture, Short stature, Intrauterine growth retar... ORPHA:261279
Codas Syndrome
Short stature, Ventricular septal defect, Extrahepatic biliary duct atresia ORPHA:1458
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Polyhydramnios, Mesomelic/rhizomelic limb shortening, Camptodactyly, Sho... OMIM:605039
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Growth delay, Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Growth delay, Tetralogy of Fallot, Ventricular septal defect... ORPHA:1727
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Telan... OMIM:612582
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Ventricular septal defect, Flexion contracture ORPHA:79243
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Ventricular septal defect, Pulmonary arterial hypertension, Grow... ORPHA:447980
Craniofacial Dyssynostosis With Short Stature
Short stature, Ventricular septal defect OMIM:218350
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Polyhydramnios, Death in infancy ORPHA:1790
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Mucolipidosis Type Ii
Postnatal growth retardation, Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic r... ORPHA:576
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Polyhydramnios, Periportal fibrosis, Patent foramen ovale, Ascites, Neonatal death,... OMIM:269860
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness, Mild short stature OMIM:169400
Brachydactyly, Type B1
Ventricular septal defect, Camptodactyly, Joint contracture of the hand OMIM:113000
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Noonan Syndrome 13
Atrial septal defect, Lymphedema, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Lymphedema, Pleural effusion, Camptodactyly, Pericardial effusion, ... OMIM:235510
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular sept... OMIM:619995
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Short stature, Neonatal death, Atrial septal defect, Ventricular septal ... OMIM:620024
Teebi Hypertelorism Syndrome 1
Short stature, Atrial septal defect, Ventricular septal defect OMIM:145420
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Abnormal heart morphology, Ventric... ORPHA:494344
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Ritscher-Schinzel Syndrome 2
Postnatal growth retardation, Camptodactyly, Camptodactyly of finger, Atrial septal defect, Ventr... OMIM:300963
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Dysplastic pulmonary valve, Absence of the pulmonary valve, Dysplastic ... OMIM:601808
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Tetralog... OMIM:153400
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in childhood, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, D... OMIM:610505
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Situs inversus totalis, Atrioventricular canal defect, Dextroc... ORPHA:289
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Patent foramen ovale, Contracture of the proximal interphalangea... ORPHA:457279
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventr... ORPHA:435638
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Coronary artery fistula, Short stature, Growth del... OMIM:614294
Ogden Syndrome
Postnatal growth retardation, Torticollis, Cardiogenic shock, Arrhythmia, Ventricular septal defect ORPHA:276432
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Diabetic Embryopathy
Transposition of the great arteries, Tetralogy of Fallot, Aplasia/Hypoplasia of the abdominal wal... ORPHA:1926
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Short stature, Intrauterine growth retardation, A... OMIM:617602
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:251290
Heart And Brain Malformation Syndrome
Polyhydramnios, Limb hypertonia, Growth delay, Camptodactyly of finger, Ventricular septal defect OMIM:616920
Codas Syndrome
Polyhydramnios, Atrioventricular canal defect, Short stature, Atrial septal defect, Ventricular s... OMIM:600373
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Secundum atrial septal defect, Hypertension, Hepatic failure OMIM:619758
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios, Intrauterine growth ... OMIM:611812
Carpenter Syndrome 1
Transposition of the great arteries, Camptodactyly, Pulmonic stenosis, Short stature, Tetralogy o... OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Calf muscle hypert... OMIM:253800
Shashi-Pena Syndrome
Intrauterine growth retardation, Atrial septal defect, Limb hypertonia OMIM:617190
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Torticollis, Skeletal muscle atrophy, Intrauterine growth retardati... ORPHA:251061
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Growth delay, Epistaxis, Hematochezia, Hepatic steatosis ORPHA:96168
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Atrial septal defect, Ventricular septal defect OMIM:610536
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Atrial flutter, Wolff-Parkinson-White syndrome, Hepato... ORPHA:137675
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Aortic regurgitation, Polyhydramnios, Cholestasis, Pulmonic st... OMIM:222470
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short stature, Atrial septal defect, Mitral valve prolapse OMIM:300986
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Short stature, Tetralogy of Fallot, Intrauterine growth retardation, Vent... ORPHA:1908
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:614961
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Polyhydramnios, Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4th finger, P... OMIM:618914
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Short Stature-Micrognathia Syndrome
Rhizomelia, Skeletal muscle hypertrophy, Short stature, Intrauterine growth retardation, Ventricu... OMIM:617164
Sifrim-Hitz-Weiss Syndrome
Short stature, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot OMIM:617159
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Camptodactyly, Hepatosplenomegaly, Atrial septal defect, Macroglossia ORPHA:397709
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Severe intrauterine growth retardation, Tricuspid regurgitation, Pulmonary arterial hypertension,... OMIM:620663
Immunodeficiency 110 With Lymphoproliferation
Patent foramen ovale, Secundum atrial septal defect OMIM:614868
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Cardiomyopathy, Short stature, Camptodactyly of finger... ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect, Scapular winging OMIM:617061
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hepatomegaly, Ventricular septal defect, Dehydration, Cardiomegaly,... ORPHA:96191
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Postnatal growth retardation, Secundum atrial septal defect OMIM:620242
Phaver Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Ventricular septal defect ORPHA:2876
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Contractures of the large joints, Ventricular septal defect ORPHA:3078
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart m... ORPHA:261197
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hepatomegaly, Periportal fibrosis, Hypertension, Dehydration, Portal hypertension, O... OMIM:263200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Hepatomegaly, Polyhydramnios, Pancreatic lymphangiectasis, Ascites,... ORPHA:1655
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, ... ORPHA:261344
Distal Triplication 15Q
Camptodactyly, Abnormal heart morphology, Flexion contracture, Intrauterine growth retardation, A... ORPHA:314588
Cranioectodermal Dysplasia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangit... OMIM:613610
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Atrial septal defect, Polyhydramnios, Short stature OMIM:603467
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Ventricular septal defect OMIM:618325
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Ventricular septal defect, Short stature, Heart murmur ORPHA:166035
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect OMIM:219730
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Patent foramen ovale, Scapular winging, Congenital finger flexion con... OMIM:615582
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Ventricular septal defect, Death in infancy, Growth delay OMIM:300514
Alg9-Cdg
Atrial septal defect, Hepatomegaly, Rhizomelia, Torticollis, Hydrops fetalis, Abnormal left ventr... ORPHA:79328
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Polyhydramnios, Aortic regurgitation, Ascites, Increased nu... ORPHA:1052
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Growth delay, Flexion contracture, Tachycardia, Ve... OMIM:614653
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... OMIM:158170
ERI1-related disease
Tricuspid regurgitation, Pulmonary arterial hypertension, Short stature, Abnormal heart morpholog... OMIM:608739
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Death in infan... OMIM:609069
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Pulmonic stenosis, Short stature, Embryonal rhabdomyosarcoma, Atria... OMIM:257300
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Short stature, Growth delay, Atrial septal... ORPHA:209905
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Patent foramen ovale, Mitral regurgitation OMIM:225250
Kury-Isidor Syndrome
Growth delay, Ventricular septal defect OMIM:619762
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Short stature, Contracture of the distal interphalangeal joint of t... OMIM:605130
Distal Deletion 3P
Intrauterine growth retardation, Atrioventricular canal defect, Short stature ORPHA:1620
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis, Rhizomelia, Patent foramen ovale, Camptodactyly, Joint contracture o... OMIM:228520
Zellweger Syndrome
Jaundice, Hepatomegaly, Death in infancy, Short stature, Ventricular septal defect, Hepatic failure ORPHA:912
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Short stature, Arrhythmia, Overridi... OMIM:309801
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Short stature, Atrial septal defect, Hepatomegaly, Dextrocardia OMIM:277380
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Accessory spleen, Severe postnatal growt... OMIM:620005
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension OMIM:616449
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Flexion contracture OMIM:619720
Dysosteosclerosis
Short stature, Ventricular septal defect ORPHA:1782
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Polyhydramnios, Growth delay, Camptodactyly of finger, Severe shor... ORPHA:3047
Ogden Syndrome
Left atrial enlargement, Premature ventricular contraction, Cardiomegaly, Intrauterine growth ret... OMIM:300855
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Ventricular septal defect ORPHA:1770
Distal Duplication 5Q
Short stature, Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Pancreatic fibrosis, Hepatic fibrosis, Tricuspid regurgitation, Atrial septal de... OMIM:263520
16P13.11 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:261236
Buratti-Harel Syndrome
Atrial septal defect OMIM:619314
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Edema of the dorsum of hands, Shoulder muscle hypoplasia, Death in... OMIM:274000
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Patent foramen ovale, Right bundle branch block, Hypertrophic cardiomyopathy, Tri... OMIM:617506
Koolen-De Vries Syndrome
Pulmonic stenosis, Short stature, Bicuspid aortic valve, Hypotrophy of the small hand muscles, At... OMIM:610443
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Microvesicular hepatic stea... OMIM:619418
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonary arterial h... ORPHA:505248
Craniofacioskeletal Syndrome
Short stature, Absent gallbladder, Atrial septal defect, Ventricular septal defect, Intrauterine ... OMIM:300712
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Ventricular septal defect, Growth delay ORPHA:217346
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Atrial septal defect, Ventricular septal defect OMIM:610832
Down Syndrome
Delayed puberty, Atrioventricular canal defect, Ventricular septal defect, Short stature, Secundu... ORPHA:870
Sotos Syndrome
Prolonged neonatal jaundice, Atrial septal defect, Muscular ventricular septal defect, Ventricula... OMIM:117550
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Short stature, Vent... OMIM:614947
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect, Flexion contracture OMIM:309520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Growth delay, Atrial septal defect OMIM:614749
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Short stature, Camptodactyly of finger, Growth delay, I... ORPHA:261330
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ascites, Biliar... OMIM:619991
Congenital Disorder Of Glycosylation, Type Ig
Edema, Patent foramen ovale, Polyhydramnios, Rhizomelia OMIM:607143
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short statu... OMIM:607721
Noonan Syndrome
Postnatal growth retardation, Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature,... ORPHA:648
Joubert Syndrome 14
Growth delay, Ventricular septal defect, Hypertension, Intracranial hemorrhage OMIM:614424
Ellis-Van Creveld Syndrome
Neonatal short-limb short stature, Common atrium, Atrial septal defect, Disproportionate short-li... OMIM:225500
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Accessory spleen, Morgagni diaphragmatic hernia, Patent foramen ovale, Ascite... OMIM:613177
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia, Patent foramen ovale, Short stature, Intrauter... OMIM:616364
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Supravalvar pulmonary stenosis, Aortic valve stenosis, Short stature, Joint contracture, Mitral a... OMIM:618164
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect OMIM:620194
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Skeletal muscle atrophy, Short stature OMIM:615802
Rabson-Mendenhall Syndrome
Severe postnatal growth retardation, Cardiomyopathy, Short stature, Intrauterine growth retardati... ORPHA:769
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Delayed puberty, Generalized limb muscle atrophy, Short stature, Flexion contracture, Intrauterin... OMIM:618891
Mckusick-Kaufman Syndrome
Short stature, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Hypoplastic ... ORPHA:2473
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Rhizomelia, Knee flexion contracture, Atrial septal defect, Elbow contracture OMIM:618162
Oculoectodermal Syndrome
Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Growth delay, Atrial septal d... OMIM:600268
Zaki Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Short stature OMIM:619648
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Rhizomelia, Cardiomegaly, Patent foramen ovale, Elbow flexion co... OMIM:245600
Renal Agenesis
Oligohydramnios, Ventricular septal defect, Hypertension ORPHA:411709
Coffin-Siris Syndrome 4
Pulmonic stenosis, Short stature, Mitral atresia, Intrauterine growth retardation, Atrial septal ... OMIM:614609
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Short stature, Ventricular septal defect ORPHA:52055
Chromosome 10Q26 Deletion Syndrome
Short stature, Atrial septal defect, Postnatal growth retardation, Scapular winging OMIM:609625
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr... ORPHA:508498
Genitopatellar Syndrome
Short stature, Hip contracture, Knee flexion contracture, Atrial septal defect, Arthrogryposis mu... ORPHA:85201
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Trisomy 18
Congenital diaphragmatic hernia, Short stature, Camptodactyly of finger, Growth delay, Intrauteri... ORPHA:3380
8P11.2 Deletion Syndrome
Short stature, Growth delay, Splenomegaly, Mitral valve prolapse, Atrial septal defect ORPHA:251066
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Tetralogy of Fallot, Intrau... ORPHA:1780
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction ... OMIM:300967
Maternal Phenylketonuria
Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal... ORPHA:2209
X Small Rings
Growth delay, Mitral stenosis, Bicuspid aortic valve, Ventricular septal defect, Oligohydramnios ORPHA:96201
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pul... ORPHA:1600
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Valvular pulmonary stenosis, Patent foramen ovale, Short stature, Bicuspid aortic valve, Atrial s... OMIM:300707
Bent Bone Dysplasia Syndrome 2
Intrauterine growth retardation, Atrial septal defect, Arthrogryposis multiplex congenita, Hepato... OMIM:620076
Spondyloocular Syndrome
Lymphedema, Dysplastic aortic valve, Short stature, Mitral valve prolapse, Atrial septal defect OMIM:605822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Atrial septal defect OMIM:614207
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Peritoneal abscess, Abnormal ductus choledochus morphology, Intrauterine growth r... ORPHA:436252
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranous ventricular s... OMIM:620662
Fg Syndrome Type 1
Pulmonary arterial hypertension, Short stature, Mitral valve prolapse, Atrial septal defect, Prog... ORPHA:93932
Char Syndrome
Ventricular septal defect ORPHA:46627
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Hepatomegaly, Prolonged QT interval, Polyhydramnios, Cardiomyopa... ORPHA:373
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Lymphedema, Hypertrophic cardiomyopathy, Pulmonic stenosis, Shor... ORPHA:1340
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Patent foramen ovale OMIM:619179
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Short stature, Bicuspid aortic valve, Atrial septal defect, Ventricular septal... OMIM:610759
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Ventricular septal defect ORPHA:404440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Ventricular septal defect ORPHA:77298
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Short stature, Hip ... OMIM:178110
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormality of the gallbladder, R... ORPHA:818
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hepatomegaly, Hydrops fetalis, Polyhydramnios, Microvesicular hepatic steatosis, Elbow... OMIM:300868
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Short stature, Growth delay, Intrauterine growth retardation, Atrial sep... OMIM:301030
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Atrioventricular canal defect ORPHA:276413
Mosaic Trisomy 16
Intrauterine growth retardation, Atrial septal defect, Abnormal heart morphology, Ventricular sep... ORPHA:1708
Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension OMIM:613834
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Wrist flexion contracture ORPHA:436003
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect OMIM:602482
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Ventricular septal defect OMIM:234050
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Intrauterine growth retardation, Atrial septal defect, Disproportionate short stature ORPHA:2637
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:620511
Brachytelephalangic Chondrodysplasia Punctata
Postnatal growth retardation, Atrial septal defect, Ventricular septal defect, Proportionate shor... ORPHA:79345
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:2328
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Disproportionate short stature, Muscular ventricular septal defect, Death in childhoo... OMIM:210710
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Pulmonary arterial hypertension, Contracture of the proximal interphalangeal join... ORPHA:464738
Recombinant 8 Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot ORPHA:96167
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Intracranial hemorrhage, Heart murmur, Absent gallbladder, Atrial septal defect, V... ORPHA:163979
Distal Deletion 10Q
Postnatal growth retardation, Facial diplegia, Scapular winging, Short stature, Atrial septal defect ORPHA:96148
Alg12-Cdg
Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Poly... ORPHA:79324
Oligomeganephronia
Congenital diaphragmatic hernia, Secundum atrial septal defect, Hypertension, Dehydration ORPHA:2260
Coffin-Siris Syndrome
Postnatal growth retardation, Growth delay, Abnormal heart morphology, Tetralogy of Fallot, Hepat... ORPHA:1465
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Splenomegaly, Atri... OMIM:115150
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Short stature, Growth delay, Vent... OMIM:613309
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, ... ORPHA:17
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Intrahepatic cholestasis, Hepatomegaly, Death in ch... OMIM:243800
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Polyhydramnios, Elbow flexion contracture, Increased nuchal tran... ORPHA:1692
Cornelia De Lange Syndrome 6
Intrauterine growth retardation, Atrioventricular canal defect, Ventricular septal defect OMIM:620568
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Camptodactyly OMIM:207410
Mgat2-Cdg
Hydrops fetalis, Reflex asystolic syncope, Abnormal heart morphology, Arrhythmia, Ventricular sep... ORPHA:79329
Adams-Oliver Syndrome 1
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Tetralog... OMIM:100300
Jacobsen Syndrome
Annular pancreas, Flexion contracture, Intrauterine growth retardation, Atrial septal defect, Ven... OMIM:147791
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Camptodactyly, Aortic valve stenosis, Generalized musc... OMIM:139210
Chops Syndrome
Patent foramen ovale, Anomalous pulmonary venous return, Short stature, Splenomegaly, Ventricular... OMIM:616368
3Mc Syndrome 1
Postnatal growth retardation, Diastasis recti, Conjunctival telangiectasia, Growth delay, Atrial ... OMIM:257920
Fryns Syndrome
Stillbirth, Polyhydramnios, Chylothorax, Aplasia of the left hemidiaphragm, Camptodactyly, Ectopi... OMIM:229850
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Melena, Short stature, Abnormal heart morphology, Hematochezia, Inte... ORPHA:79076
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle OMIM:616652
21Q22.11Q22.12 Microdeletion Syndrome
Short stature, Atrial septal defect, Postnatal growth retardation, Camptodactyly ORPHA:261323
Frank-Ter Haar Syndrome
Patent foramen ovale, Camptodactyly, Growth delay, Secundum atrial septal defect, Mitral valve pr... OMIM:249420
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Growth delay, Secundum atrial s... OMIM:612541
Congenital Tracheomalacia
Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou... ORPHA:95430
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Polyhydramnios, Atrioventricular canal defect, Hepatomegaly, Short stature, Splenomegaly OMIM:617088
Weill-Marchesani Syndrome 1
Proportionate short stature, Pulmonic stenosis, Aortic valve stenosis, Short stature, Ventricular... OMIM:277600
Vici Syndrome
Postnatal growth retardation, Congestive heart failure, Cardiomyopathy, Left ventricular hypertro... OMIM:242840
Mandibuloacral Dysplasia Progeroid Syndrome
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:619127
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic stenosis, Short sta... OMIM:618223
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Short stature OMIM:612530
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polyhydramnios, Atrial septal defect, Hydrops fetalis OMIM:616546
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Camptodactyly, Tricuspid r... OMIM:617402
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Ventricular septal defect, Oligohydramnios, Death in adolescence OMIM:619229
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
C Syndrome
Short stature, Ventricular septal defect, Hepatomegaly OMIM:211750
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Ventricular septal defect, Short stature, Death in infancy ORPHA:1393
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation ORPHA:261250
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... ORPHA:391665
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Short stature, Ventricular septal defect OMIM:300472
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Aortic valve stenosis, Dou... OMIM:615067
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Flexion contracture of toe, Facial palsy, Camptodactyly, Short stature, Atrial se... OMIM:300373
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the pectoralis major muscle, Short stature, Camptodactyly of finger, ... ORPHA:3138
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Polyhydramnios, Aortopulmonary window, Aplasia of the left hemidiaphragm, Pulmonary... OMIM:620025
Leigh Syndrome
Congestive heart failure, Ventricular septal defect, Hypertrophic cardiomyopathy, Growth delay, S... ORPHA:506
Ramos-Arroyo Syndrome
Atrial septal defect, Severe short stature, Xerostomia ORPHA:1051
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Pancreatitis, Hydrops fetalis, Limb hypertonia, Splenic cyst, Patent foramen... OMIM:620371
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Polyhydramnios, Aortic regurgitation, Aortic valve stenosis, Flexion c... ORPHA:464311
Bardet-Biedl Syndrome 20
Atrial septal defect, Pancreatitis, Elevated circulating hepatic transaminase concentration OMIM:619471
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Growth delay, Ventricular septal defect, Tetralogy of Fallot, Death in childhood OMIM:600460
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Facial palsy, Upper limb muscle hypoplasia, Atrial septal defect, Ventricu... OMIM:607323
Diamond-Blackfan Anemia 21
Short stature, Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Ring Chromosome 12 Syndrome
Growth delay, Secundum atrial septal defect ORPHA:1439
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Secundum atrial septal defect OMIM:619951
Alagille Syndrome 1
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Cho... OMIM:118450
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Increased nuchal translucency, Pulmonic stenosis, Short stature, Bicuspi... OMIM:620654
2Q31.1 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:251014
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Atrial septal defect, Polyhydramnios OMIM:614080
Neurodevelopmental Disorder With Spasticity And Poor Growth
Limb hypertonia, Patent foramen ovale, Short stature, Growth delay, Achilles tendon contracture, ... OMIM:618076
Kleefstra Syndrome
Short stature, Tetralogy of Fallot, Arrhythmia, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:261494
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Patent foramen ovale, Facial palsy, Pulmonary arterial hypertension, Short statur... OMIM:620186
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Diaphragmatic eventration OMIM:222448
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Ventricular septal defect, Mitral regurgitation, Aortic regurgitation OMIM:123700
Marden-Walker Syndrome
Situs inversus totalis, Muscular dystrophy, Abnormal anatomic location of the heart, Dextrocardia... ORPHA:2461
Restrictive Dermopathy 1
Stillbirth, Polyhydramnios, Neonatal death, Limb joint contracture, Flexion contracture, Intraute... OMIM:275210
Sweeney-Cox Syndrome
Patent foramen ovale, Polyhydramnios, Asplenia OMIM:617746
Kaufman Oculocerebrofacial Syndrome
Short stature, Atrial septal defect, Ventricular septal defect OMIM:244450
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy, Camptodactyly, ... OMIM:617403
Cohen Syndrome
Delayed puberty, Short stature, Mitral valve prolapse, Intrauterine growth retardation, Ventricul... ORPHA:193
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Tricuspid regurgitation, Camptodactyly, Short stature, Hypoplastic right he... OMIM:616894
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Severe short stature, Mitral valve prolapse, Ventricular... ORPHA:444072
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Neu-Laxova Syndrome 1
Stillbirth, Transposition of the great arteries, Polyhydramnios, Patent foramen ovale, Camptodact... OMIM:256520
Fontaine Progeroid Syndrome
Hypoplasia of the abdominal wall musculature, Pulmonary arterial hypertension, Tricuspid regurgit... OMIM:612289
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, Abnormal left ventricle morphology, Abnormal cardiac ventricular function, Paten... ORPHA:466791
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Proportionate short stature, Growth delay, Ventricular septal defect, Macro... OMIM:613457
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Atrial septal defect OMIM:300968
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Polyhydramnios, Cholelithiasis, Exocrine pancreatic insuf... OMIM:618268
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Decreased muscle mass, Short stature OMIM:130720
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Pulmonary arterial hypertension, Mitral stenosis, Tetralogy of Fallot, Doub... ORPHA:163956
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Atrial septal defect, Flexion contracture, Xerostomia ORPHA:398069
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Short stature, Abnormal heart morphology, ... ORPHA:2745
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Patent foramen ovale, Distal arthrogryposis, Facial hypotonia OMIM:617557
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Death in childhood, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, V... OMIM:214100
Larsen Syndrome
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Short stature OMIM:150250
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Short stature, Atrial septal defect, Ventricula... OMIM:619268
Zttk Syndrome
Aortic regurgitation, Short stature, Growth delay, Flexion contracture, Absent gallbladder, Atria... OMIM:617140
Cerebellofaciodental Syndrome
Short stature, Ventricular septal defect, Mitral valve prolapse OMIM:616202
Diamond-Blackfan Anemia 1
Congestive heart failure, Tricuspid stenosis, Short stature, Intrauterine growth retardation, Atr... OMIM:105650
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Edema, Atrial septal defect ORPHA:2526
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension,... ORPHA:391487
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Ventricular septal defect OMIM:617798
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Elbow flexion contracture, Lymphedema, Abnormal right hemidiaphr... ORPHA:536471
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Hepatomegaly, Polyhydramnios, Miscarriage, Diastasis recti, Camptod... ORPHA:96334
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Congenital muscular torticollis, Truncus arteriosus, Growth delay, Abnormality of t... ORPHA:2538
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Prolonged QT... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Prolonged QT... ORPHA:99228
Monosomy X
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Prolonged QT... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Prolonged QT... ORPHA:881
Costello Syndrome
Rhabdomyosarcoma, Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, ... OMIM:218040
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Disproportionate short-limb short stature, Death in infancy,... ORPHA:1507
Marshall-Smith Syndrome
Death in childhood, Hypertension, Pulmonary arterial hypertension, Premature ventricular contract... OMIM:602535
Phelan-Mcdermid Syndrome
Palpebral edema, Ventricular septal defect, Lymphedema OMIM:606232
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Ventricular septal defect OMIM:250410
Neurocardiofaciodigital Syndrome
Short stature, Atrial septal defect, Tetralogy of Fallot, Double inlet left ventricle OMIM:619869
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart OMIM:618748
Congenital Disorder Of Glycosylation, Type Iia
Short stature, Ventricular septal defect, Postnatal growth retardation OMIM:212066
Fanconi Anemia
Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Short stature, Growth delay, Tetra... ORPHA:84
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Patent foramen ovale, Pulmonary arterial hypertension, Increased nuch... ORPHA:280633
Congenital Disorder Of Glycosylation, Type Iim
Intrauterine growth retardation, Atrial septal defect, Hypertension, Oligohydramnios OMIM:300896
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Aortic valve stenosis, Short stature, Growth delay, Atrial septa... ORPHA:96121
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Hypertension, Hypertrophic cardiomyopathy, De... OMIM:270400
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Proportionate sh... OMIM:608328
De Barsy Syndrome
Postnatal growth retardation, Short stature, Decreased muscle mass, Intrauterine growth retardati... ORPHA:2962
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Flexion contracture, Accessory spleen OMIM:619306
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Short stature, Growth delay, Abnormal heart morphology, Nonim... ORPHA:124
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormal heart valve morphology,... ORPHA:280
Khan-Khan-Katsanis Syndrome
Patent foramen ovale, Tricuspid regurgitation, Short stature, Joint contracture, Intrauterine gro... OMIM:618460
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Tricuspid atresia, Abnormal aortic valve morphology, Corneal neovasc... ORPHA:567
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Pulmonic stenosis, Skeletal muscle atrophy, Ventricular septal defect, Oligohydr... ORPHA:488632
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrops fetalis, Ventricular septal defect ORPHA:268249
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Patent foramen ovale, Short ... OMIM:157800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Type 1 muscle fiber atrophy, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Type 1 muscle fiber atrophy, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:352665
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Partial atrioventricular canal defect OMIM:620423
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Diastasis recti, Abnormal heart morphology, Abno... ORPHA:2369
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Polyhydramnios, Torticollis, Aortic regurgitation, Facial hypotonia, Mi... OMIM:618371
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Perimembranous ventricular septal defect, Growth delay, Ventricular... OMIM:301040
Mayer-Rokitansky-Küster-Hauser Syndrome
Pulmonic stenosis, Atrial septal defect ORPHA:3109
Noonan Syndrome 1
Postnatal growth retardation, Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Pulmonic sten... OMIM:163950
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Aortic valve stenosis, Short stature, Intrauteri... ORPHA:464306
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Ventricular septal defect, Flexion contracture, Short stature OMIM:227645
Degcags Syndrome
Hepatomegaly, Polyhydramnios, Dysplastic pulmonary valve, Patent foramen ovale, Cholestasis, Abno... OMIM:619488
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly, Short stature OMIM:272950
Yunis-Varon Syndrome
Postnatal growth retardation, Hydrops fetalis, Polyhydramnios, Hypertension, Cardiomyopathy, Pulm... ORPHA:3472
Tarp Syndrome
Intrauterine growth retardation, Atrial septal defect, Tetralogy of Fallot ORPHA:2886
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Polyhydramnios, Accessory spleen, Tricuspid stenosis, Asplen... OMIM:164280
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent foramen ovale, Pulmonary arterial hypertension, Short sta... OMIM:618454
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Camptodactyly, Growth delay, Contracture of the proximal interph... OMIM:301044
Cerebrocostomandibular Syndrome
Postnatal growth retardation, Polyhydramnios, Elbow flexion contracture, Atrial septal defect, Ve... OMIM:117650
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short stature, Atrial septal defect, Polyhydramnios, Postnatal growth retardation OMIM:213980
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Diastasis recti, Camptodactyly of finger, Acute hepatic failure,... ORPHA:2092
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy ORPHA:369837
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Polyhydramnios, Lower-limb joint contracture, Growth delay, Dilatation of the ve... ORPHA:459070
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Short stature, Abnormal heart morp... ORPHA:97360
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Ventricular septal defect, Short stature OMIM:618846
Arboleda-Tham Syndrome
Lower limb amyotrophy, Pulmonic stenosis, Lower limb hypertonia, Growth delay, Upper limb amyotro... OMIM:616268
Pallister-Hall Syndrome
Growth delay, Short stature, Neonatal death, Intrauterine growth retardation, Ventricular septal ... OMIM:146510
Renpenning Syndrome 1
Situs inversus totalis, Death in childhood, Camptodactyly, Short stature, Tetralogy of Fallot, At... OMIM:309500
Prader-Willi Syndrome Due To Translocation
Patent foramen ovale, Short stature, Abnormal heart morphology, Intrauterine growth retardation, ... ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Unilateral facial palsy, Atrioventricular canal defect, Torticollis OMIM:619480
Jacobsen Syndrome
Annular pancreas, Death in infancy, Aortic valve stenosis, Short stature, Growth delay, Intrauter... ORPHA:2308
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aortic regurgitation, Limb hypertonia OMIM:609460
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Mosaic Trisomy 20
Intrauterine growth retardation, Abnormal mitral valve morphology, Ventricular septal defect, Dys... ORPHA:1724
Okamoto Syndrome
Abnormal left ventricle morphology, Severe postnatal growth retardation, Primum atrial septal def... ORPHA:2729
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Flexion contracture, Bicuspid aortic valve, Atrial septal defect, Ventricul... OMIM:271640
Opitz Gbbb Syndrome
Growth delay, Ventricular septal defect OMIM:300000
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect OMIM:620558
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Abnormal hea... ORPHA:363700
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Oligohydramnios, Heart murmur OMIM:618653
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short stature, Patent foramen ovale, Mitral regurgitation, Disproportionate short-trunk short sta... ORPHA:457395
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Short stature, Abnormal heart morphology, Mitral valve prolapse, Heart murmur, Intr... OMIM:615873
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia ORPHA:1519
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Oligohydramnios, Ventricular septal hypertrophy, Ventricular sep... OMIM:608670
Frontometaphyseal Dysplasia 2
Delayed puberty, Patent foramen ovale, Camptodactyly, Pulmonic stenosis, Hip contracture, Decreas... OMIM:617137
Omodysplasia 1
Atrial septal defect, Ventricular septal defect, Rhizomelia, Disproportionate short-limb short st... OMIM:258315
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Patent foramen ovale, Short stature, Intrauterine growth retardation, Ventricul... OMIM:616975
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Hepatic hemangioma, Perimembranous ventricular septal defect, Polyh... OMIM:180849
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Rhizomelia, Arrhythmia, Disproportionate short stature, Atrial septal defect OMIM:250220
Velocardiofacial Syndrome
Short stature, Ventricular septal defect, Tetralogy of Fallot OMIM:192430
Orofaciodigital Syndrome V
Ventricular septal defect, Tetralogy of Fallot OMIM:174300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Ventricular septal defect, Hematochezia OMIM:619575
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Progressive flexion contractures ORPHA:522077
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Hand ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Hand ... ORPHA:363958
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Aortic regurgitation, Diastasis recti, Tricuspid regurgitation, Distal ... OMIM:601776
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Rhizomelia, Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary arterial... OMIM:143095
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Corneal neovascularization, Death in childhood, Hydromyelia, Hypertension, Death in infancy, Shor... OMIM:308205
Microphthalmia, Syndromic 2
Dextrocardia, Contracture of the proximal interphalangeal joint of the 2nd toe, Pulmonic stenosis... OMIM:300166
Williams Syndrome
Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid... ORPHA:904
Distal Deletion 12Q
Annular pancreas, Biliary atresia, Patent foramen ovale, Elbow flexion contracture, Short stature... ORPHA:96149
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia OMIM:617107
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Hypoplastic left ... OMIM:301043
Chromosome 16P13.3 Duplication Syndrome
Facial hypotonia, Camptodactyly, Tetralogy of Fallot, Atrial septal defect, Ventricular septal de... OMIM:613458
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pulmonic stenosis, Short stature, Abnormal heart morphology, Cardiac condu... ORPHA:353281
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:619525
Wolf-Hirschhorn Syndrome
Accessory spleen, Severe postnatal growth retardation, Short stature, Biliary tract abnormality, ... OMIM:194190
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Stillbirth, Ankle flexion contracture, Polyhydramnios, Accessory sp... OMIM:268300
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Transposition of the great arteries, Hepatomegaly, Polyhydramnio... OMIM:312870
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Splenopancreatic fusion, Hepatoblastoma, Atrial septal defect, Macr... OMIM:269150
Tetrasomy 9P
Jaundice, Dextrocardia, Biliary atresia, Myositis, Patent foramen ovale, Pulmonary arterial hyper... ORPHA:3310
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Short stature, Patent foramen ovale, Polyhydramnios OMIM:300990
Congenital Tracheal Stenosis
Polyhydramnios, Fetal ascites, Ventricular septal defect, Oligohydramnios, Hypoplastic left heart ORPHA:141127
Restrictive Dermopathy
Transposition of the great arteries, Polyhydramnios, Dextrocardia, Arthrogryposis multiplex conge... ORPHA:1662
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Secundum atrial septal defect, Short stature OMIM:601321
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Polyhydramnios, Patent foramen ovale, Pulmonic stenosis, Aortic val... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Polyhydramnios, Patent foramen ovale, Pulmonic stenosis, Aortic val... ORPHA:353277
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Tricuspid regurgitation, Camptodactyly of toe, Camptod... ORPHA:261337
Phace Association
Ventricular septal defect OMIM:606519
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Short stature, Abnormal heart morphology, Intrauteri... ORPHA:268261
Hajdu-Cheney Syndrome
Delayed puberty, Hepatomegaly, Aortic valve stenosis, Short stature, Mitral stenosis, Splenomegal... ORPHA:955
Orofaciodigital Syndrome Type 2
Short stature, Atrioventricular canal defect ORPHA:2751
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Arthrogryposis multiplex congenita OMIM:619512
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Postnatal growth retardation, Pulmonary arterial hypertension, Short stature, Secundum atrial sep... OMIM:613355
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Short stature, A... ORPHA:444077
Catel-Manzke Syndrome
Postnatal growth retardation, Dextrocardia, Camptodactyly, Intrauterine growth retardation, Overr... OMIM:616145
Chromosome 13Q14 Deletion Syndrome
Growth delay, Patent foramen ovale, Ventricular septal defect OMIM:613884
Esophageal Atresia
Growth delay, Polyhydramnios, Ventricular septal defect, Tetralogy of Fallot ORPHA:1199
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Dextrocardia, Abnormalit... ORPHA:2911
Peters-Plus Syndrome
Bilobate gallbladder, Postnatal growth retardation, Polyhydramnios, Rhizomelia, Disproportionate ... OMIM:261540
Neurooculorenal Syndrome
Postnatal growth retardation, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Patent f... OMIM:620305
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Pallister-Hall Syndrome
Atrioventricular canal defect, Short stature, Distal arthrogryposis, Intrauterine growth retardat... ORPHA:672
Microphthalmia, Syndromic 3
Short stature, Ventricular septal defect, Postnatal growth retardation OMIM:206900
Ctcf-Related Neurodevelopmental Disorder
Joint contracture of the 5th finger, Pulmonary arterial hypertension, Prolonged neonatal jaundice... ORPHA:363611
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Pulmonic stenosis, Short stature, Abnormal heart morphology, Bicuspid aorti... ORPHA:438213
Keutel Syndrome
Pulmonic stenosis, Miscarriage, Ventricular septal defect, Hypertension OMIM:245150
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Delayed puberty, Severe postnatal growth retardation, Increased ... ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ... OMIM:607872
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Patent foramen ovale, Partial atr... OMIM:616462
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Atrial septal defect, Total anomalous pulmonary venous return, Knee flexion contracture OMIM:609945
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Oligohydramnios, Hepatic steatosis, Transposition of the great arteries, Muscular ve... OMIM:619503
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Hypertension, Intrauterine growth retardation, Portal hyper... OMIM:194050
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... ORPHA:3474
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Patent foramen ovale, Arthrogryposis multiplex congenita, Flexio... OMIM:263650
Viss Syndrome
Atrial septal defect, Epidural hemorrhage, Polyhydramnios, Patent foramen ovale, Contracture of t... OMIM:619472
Chilton-Okur-Chung Neurodevelopmental Syndrome
Polyhydramnios, Limb hypertonia, Patent foramen ovale, Short stature, Aplasia of the right hemidi... OMIM:619841
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Camptodactyly, Tricusp... OMIM:614976
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Patent foramen ovale, Short stature, Asplenia ORPHA:221120
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Camptodactyly, Mitral valve prolapse, Ventricular septal def... ORPHA:500095
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Polyhydramnios, Facial palsy, Pulmonic stenosis, S... OMIM:214800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Transient ischemic attack, Proportionate short stature, Abnormal heart morpholog... ORPHA:500150
Kabuki Syndrome 1
Postnatal growth retardation, Short stature, Growth delay, Atrial septal defect, Ventricular sept... OMIM:147920
Gabriele-De Vries Syndrome
Facial hypotonia, Patent foramen ovale, Ebstein anomaly of the tricuspid valve, Distal arthrogryp... ORPHA:506358
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot, Short stature OMIM:154400
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Postnatal growth retardation, Short stature, Tetralogy of Fallot... OMIM:135900
Craniotubular Dysplasia, Ikegawa Type
Short stature, Ventricular septal defect OMIM:619727
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Loeys-Dietz Syndrome 3
Aortic regurgitation, Atrial fibrillation, Ventricular hypertrophy, Camptodactyly, Pulmonic steno... OMIM:613795
Mowat-Wilson Syndrome
Pulmonic stenosis, Generalized muscle hypertrophy, Short stature, Abnormal heart morphology, Atri... OMIM:235730
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short stature, Growth delay, Intrauterine growth retardation, Atrial septal defect, Ventricular s... OMIM:619522
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale ORPHA:477993
Loeys-Dietz Syndrome 2
Patent foramen ovale, Camptodactyly, Bicuspid pulmonary valve, Mitral valve prolapse, Bicuspid ao... OMIM:610168
Vater/Vacterl Association
Postnatal growth retardation, Transposition of the great arteries, Tetralogy of Fallot, Intrauter... OMIM:192350
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Bicuspid pulmonary valve, Camptodactyly, Mitral valve prolapse, Bi... OMIM:609192
Genitopatellar Syndrome
Polyhydramnios, Hip contracture, Knee flexion contracture, Atrial septal defect, Ventricular sept... OMIM:606170
Otopalatodigital Syndrome, Type Ii
Postnatal growth retardation, Stillbirth, Short stature, Atrial septal defect, Elbow contracture OMIM:304120
Osteoporosis-Pseudoglioma Syndrome
Short stature, Ventricular septal defect OMIM:259770
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Cyst of the ductus choledochus, Cardiomyopathy, Short stature, Atrial septal defect ORPHA:480880
Coffin-Siris Syndrome 12
Elevated circulating hepatic transaminase concentration, Patent foramen ovale, Facial palsy, Shor... OMIM:619325
Floating-Harbor Syndrome
Mesocardia, Short stature, Growth delay, Tetralogy of Fallot, Atrial septal defect ORPHA:2044
Floating-Harbor Syndrome
Short stature, Atrial septal defect, Mesocardia 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
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Stillbirth, Polyhydramnios, Rhizomelia, Camptodactyly of 2nd-5th... OMIM:601803
Ulnar-Mammary Syndrome
Delayed puberty, Elbow flexion contracture, Ventricular septal defect, Arrhythmia OMIM:181450
Townes-Brocks Syndrome
Delayed puberty, Short stature, Tetralogy of Fallot, Atrial septal defect, Abnormal pulmonary val... ORPHA:857
Sotos Syndrome
Ankle flexion contracture, Bilateral camptodactyly, Prolonged neonatal jaundice, Hip contracture,... ORPHA:821
Femoral-Facial Syndrome
Truncus arteriosus, Pulmonic stenosis, Camptodactyly of finger, Short stature, Ventricular septal... OMIM:134780
Digeorge Syndrome
Cholelithiasis, Truncus arteriosus, Short stature, Tetralogy of Fallot, Splenomegaly, Ventricular... OMIM:188400
Yunis-Varon Syndrome
Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Birth length less than 3rd percentile, Car... OMIM:216340
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Subarterial ventricular septal defect, Short stature, Growth delay, Secundum atrial septal defect... ORPHA:99646
Townes-Brocks Syndrome 1
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot OMIM:107480
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Craniofacial Microsomia 1
Ventricular septal defect, Tetralogy of Fallot, 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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