Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DAN domain family member 5, BMP antagonist
Synonyms:
coco,  Cerl-2,  Dte,  Cerr2,  GREM3,  Cerl2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dand5 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 Dand5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Pat... ORPHA:1209
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
White Forelock With Malformations
Atrial septal defect, Bronchomalacia OMIM:277740
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Fetal Minoxidil Syndrome
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect ORPHA:1918
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Neonatal death, Bilateral lung agenesis, Abnormal car... OMIM:601612
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect OMIM:611363
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Death in childhood, Ventricular septal defect OMIM:613759
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal a... OMIM:613807
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormality of the pharynx, Ventricular septal defect ORPHA:3469
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... OMIM:615524
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Chromosome 16P13.3 Duplication Syndrome
Short nose, Atrial septal defect, Bulbous nose, Ventricular septal defect OMIM:613458
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Coffin-Siris Syndrome 10
Anteverted nares, Laryngomalacia, Ventricular septal defect OMIM:618506
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Anteverted nares, Stillbirth, Ventricular septal defect OMIM:263630
Congenital Pulmonary Valvar Stenosis
Atrial septal defect, Laryngeal stenosis ORPHA:3189
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy, Bulbous nose, Wide nasal bridge ORPHA:93946
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Noonan Syndrome 11
Atrial septal defect, Bulbous nose, Pulmonic stenosis, Hypertrophic cardiomyopathy, Depressed nas... OMIM:618499
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:261243
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Shashi-Pena Syndrome
Atrial septal defect, Broad nasal tip OMIM:617190
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Prominent nasal bridge... OMIM:618974
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge OMIM:601450
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Timothy Syndrome
Ventricular septal defect, Bronchitis, Pneumonia, Patent ductus arteriosus, Cardiomegaly, Patent ... OMIM:601005
8Q12 Microduplication Syndrome
Atrial septal defect, Wide nasal bridge, Ventricular septal defect ORPHA:228399
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Depressed nasal bridge, Short nose, Ventricular septal defect ORPHA:261120
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect OMIM:300887
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology OMIM:614954
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Patent ductus arterios... OMIM:613870
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Depressed nasal bridge, Abnormal nasal morphology, Ventricula... ORPHA:83473
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Tetralogy of Fallot, Transposition o... ORPHA:1913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, Abnormal aortic valve morp... ORPHA:1120
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Depressed nasal bridge, Ventricular septal defect OMIM:616901
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Burn-Mckeown Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Choanal atresia, Bila... OMIM:608572
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Patent ductus arterio... OMIM:608406
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect OMIM:601355
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology, Umbilical hernia, Wide nasal bridge, Anteverted ... ORPHA:352490
Mental Retardation, Autosomal Recessive 65
Atrial septal defect, Prominent nasal bridge, Bulbous nose OMIM:618109
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Right ventricular hypertrophy, Paten... OMIM:614261
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... ORPHA:2847
Mcdonough Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Promin... OMIM:248950
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Anteverted nares, Umbilical hernia ORPHA:1035
Filippi Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Ventricular septal defect OMIM:272440
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Underdeveloped nasal alae, Choanal atresia, Wide nasal bridge, Wide nose ORPHA:521308
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia OMIM:615879
Megalencephaly
Atrial septal defect, Wide nasal bridge ORPHA:2477
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Tracheoesophageal fistula, Transposition of the great a... OMIM:314390
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus arteriosus, Pulm... OMIM:615355
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Teebi Hypertelorism Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Wide nasal bridge, Depressed nasal b... OMIM:145420
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Patent duc... OMIM:610338
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wide nasal bridge, Depressed nasal bridge ORPHA:261295
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Mitral st... ORPHA:2248
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Abdominal situ... OMIM:306955
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Aphalangy With Hemivertebrae
Pulmonary hypoplasia, Ventricular septal defect OMIM:207620
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Atrial septal defect, Patent ductus arteriosus, Ventricular ... ORPHA:290
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Depressed nasal bridge, Patent ductus arteriosus, Ventricular septal defect OMIM:618142
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atrial septal defect, Ventricular septal defect, Pulmonary fibrosis, ... OMIM:610978
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Bicuspid ao... OMIM:619149
3C Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal mitral valve morphology, Ab... ORPHA:7
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Coffin-Siris Syndrome 5
Atrial septal defect, Wide nose, Depressed nasal bridge OMIM:616938
Aica-Ribosuria Due To Atic Deficiency
Prominent nasal bridge, Atrial septal defect, Anteverted nares OMIM:608688
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... OMIM:601927
15Q14 Microdeletion Syndrome
Atrial septal defect, Prominent nasal bridge, Laryngomalacia, Ventricular septal defect ORPHA:261190
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Double outlet right ventricle, Me... OMIM:605376
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect, Prominent nasal bridge OMIM:605321
Keutel Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... ORPHA:85202
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Bulbous nose ORPHA:466926
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Renpenning Syndrome
Prominent nose, Heterotaxy ORPHA:3242
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Double outlet right ... ORPHA:185
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia,... ORPHA:500159
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:261183
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Anteverted nares, Dep... ORPHA:75389
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... ORPHA:284169
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Wide nose, Wide nasal bridge ORPHA:89844
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Wide nasal bridge, Ventricular septal defect OMIM:617360
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect ORPHA:1455
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect ORPHA:2516
Trigonocephaly With Short Stature And Developmental Delay
Wide nasal bridge, Ventricular septal defect OMIM:314320
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Ventricular septal defect ORPHA:1166
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Atrioventricular canal defect... OMIM:600123
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Death in infancy, Ventricular septal defect OMIM:208085
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Patent ductus arteriosus, Anteverted nares, Recurrent respiratory infection... ORPHA:1842
Mental Retardation, Buenos Aires Type
Prominent nose, Atrial septal defect, Wide nasal bridge OMIM:249630
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect OMIM:614300
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Laryngotracheomalacia, Spinal dysraphism, Aortic valve stenosis, Laryngeal ... OMIM:617660
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Ventricular septal defect ORPHA:3369
Prune Belly Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of ... ORPHA:2970
17Q12 Microduplication Syndrome
Atrial septal defect, Tracheoesophageal fistula ORPHA:261272
Zechi-Ceide Syndrome
Wide nasal bridge, Atrial septal defect, Wide nose, Abnormal heart morphology ORPHA:217017
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Depressed nasal bridge ORPHA:2655
Waardenburg Syndrome Type 3
Atrial septal defect, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus arteriosus, Umbilica... ORPHA:329224
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect OMIM:600987
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect, Pulmonary edema OMIM:617300
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Wide nose,... OMIM:613457
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Hypoplasti... OMIM:601186
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Patent ductus... ORPHA:392
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Pulmonic stenosis, Tetralogy of Fallo... OMIM:610205
Woods Syndrome
Wide nasal bridge, Ventricular septal defect OMIM:615236
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... OMIM:609029
Atrial Septal Defect 9
Secundum atrial septal defect OMIM:614475
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Atrial septal defect, Patent ductus arteriosus, Depressed nasal ... ORPHA:93274
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus OMIM:615502
Even-Plus Syndrome
Patent foramen ovale, Atrial septal defect, Short nose OMIM:616854
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616867
Oculoauriculofrontonasal Syndrome
Wide nose, Underdeveloped nasal alae, Ventricular septal defect ORPHA:398156
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngomalacia, Pulmon... OMIM:608149
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:602501
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Neonatal death, Aspiration pneumonia, Left ventricular hypertrophy, Paten... OMIM:619167
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300963
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:606003
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Depressed nasal bridge, Wide nasal bridge, Ventricular septal defect ORPHA:2256
Lujan-Fryns Syndrome
Atrial septal defect, Prominent nasal bridge ORPHA:776
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Patent foramen ovale, Recurre... OMIM:618950
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Wide nasal bridge OMIM:611087
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect OMIM:147800
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Klippel-Trénaunay Syndrome
Abnormality of the pulmonary artery, Atrial septal defect, Patent ductus arteriosus, Abnormal tri... ORPHA:90308
Roifman Syndrome
Noncompaction cardiomyopathy, Underdeveloped nasal alae, Ventricular septal defect, Recurrent pne... OMIM:616651
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Ventricular septal defect ORPHA:93267
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Coffin-Siris Syndrome 6
Atrial septal defect, Broad nasal tip, Depressed nasal bridge OMIM:617808
Desbuquois Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect ORPHA:1425
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Spinal dysraphism, Wide nasal bridge, Meningoc... ORPHA:1908
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Ri... OMIM:267010
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Noonan Syndrome 5
Atrial septal defect, Laryngomalacia, Pulmonic stenosis, Hypertrophic cardiomyopathy, Depressed n... OMIM:611553
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect ORPHA:139466
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Perimembranous ventric... ORPHA:363444
Schuurs-Hoeijmakers Syndrome
Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, Patent foramen ovale, Abnormal car... OMIM:615009
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Laryngomalacia, Wide nasal bridge OMIM:618821
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618870
Donnai-Barrow Syndrome
Depressed nasal bridge, Short nose, Umbilical hernia, Ventricular septal defect ORPHA:2143
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Short nose, Laryngeal hypoplasia, Death in infancy, Patent ductus arteriosu... ORPHA:1790
Trisomy 13
Abnormal lung lobation, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect OMIM:608571
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Spina bifida occulta, P... OMIM:301030
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Long nose, Pneumothorax, Narrow nose OMIM:617602
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Pro... ORPHA:435638
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Atrial septal defect, Wide nasal bridge, Ventricular septal defect OMIM:270450
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:603387
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Bulbous nose, Transposition of the great arteries, Depressed nasal bridge OMIM:616789
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngomalacia, Broad ... ORPHA:457193
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Double outlet right ventricle,... OMIM:614886
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Patent foramen ovale, Left ventricular hypertrophy, Ventricular septal... OMIM:615474
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morphology, Umbilical hernia,... ORPHA:369891
Codas Syndrome
Short nose, Ventricular septal defect, Abnormality of the larynx, Midline defect of the nose, Ant... ORPHA:1458
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, Patent ductus... ORPHA:1880
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Large placenta, Umbilical hernia, Abnormal heart morphology ORPHA:254534
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Al Kaissi Syndrome
Atrial septal defect, Broad nasal tip, Wide nasal bridge, Depressed nasal bridge OMIM:617694
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Stevenson-Carey Syndrome
Atrial septal defect, Anteverted nares, Underdeveloped nasal alae OMIM:611961
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse, Short nose OMIM:615539
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Death in infancy, Wide nasal... ORPHA:2008
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Aort... OMIM:601808
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... OMIM:610921
Beaulieu-Boycott-Innes Syndrome
Long nose, Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Seckel Syndrome 9
Recurrent respiratory infections, Atrial septal defect, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect, Long nose, Prominent nasal bridge, Narrow nasal ... OMIM:309520
Alazami Syndrome
Atrial septal defect, Wide nose ORPHA:319671
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Short nose, Ventricular septal defect, Choanal atresia, Anteverted nares OMIM:610536
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:609053
Methimazole Embryofetopathy
Choanal atresia, Tracheoesophageal fistula, Ventricular septal defect ORPHA:1923
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... ORPHA:2257
Meckel Syndrome, Type 4
Meningocele, Atrial septal defect, Ventricular septal defect OMIM:611134
Chromosome 9P Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Wide ... OMIM:158170
Potocki-Lupski Syndrome
Patent foramen ovale, Atrial septal defect OMIM:610883
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypop... ORPHA:1335
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Recurrent bronchopulmonary infections, Wide nasal... OMIM:617303
Noonan Syndrome 4
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... OMIM:610733
Noonan Syndrome 3
Atrial septal defect, Short nose, Ventricular septal defect, Patent ductus arteriosus, Pulmonic s... OMIM:609942
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Tetralogy... ORPHA:1727
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal heart morphology, Bicuspid ... ORPHA:457279
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Umbilical hernia, Wide nasal bridge, Prom... ORPHA:1292
Noonan Syndrome 7
Pulmonic stenosis, Atrial septal defect, Depressed nasal bridge, Hypertrophic cardiomyopathy OMIM:613706
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... ORPHA:96170
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus arteriosus, Pulm... OMIM:616564
Diabetic Embryopathy
Ventricular septal defect, Spinal dysraphism, Abnormality of the pulmonary artery, Tetralogy of F... ORPHA:1926
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Death in ... OMIM:617478
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Sotos Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:117550
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus arteriosus, Wide nas... OMIM:220500
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Short nose, Death in infancy, Patent foramen ovale, Anteverted nares, De... OMIM:602613
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Pate... OMIM:612582
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Ventricular septal defect, Pleural effusion, Wide nasal bridge, Pulmonary hypoplasia,... OMIM:616897
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... OMIM:600001
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Cooper-Jabs Syndrome
Anteverted nares, Umbilical hernia, Ventricular septal defect ORPHA:1488
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Short nose ORPHA:79113
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Diets-Jongmans Syndrome
Heterotaxy, Broad nasal tip, Umbilical hernia, Ventricular septal defect OMIM:618846
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Prominent nasal bridge, Wide nasal bridge, Ventricular septal defect OMIM:617452
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Anteverted nares, Hypertro... OMIM:612938
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Atrial septal defect, Short nose, Ventricular septal defect, Patent ductu... ORPHA:79345
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve... ORPHA:99776
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Pulmonary fibrosis, Ventricular septal defect, Abnormal pulmonary interstit... ORPHA:209905
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect OMIM:614857
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Broad nasal tip, Ventricular septal defect ORPHA:3306
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Umbilical hernia, Ventricular septal defect OMIM:616145
Buratti-Harel Syndrome
Atrial septal defect, Laryngomalacia, Recurrent pneumonia OMIM:619314
Kapur-Toriello Syndrome
Atrial septal defect, Patent ductus arteriosus, Bulbous nose, Ventricular septal defect OMIM:244300
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Abnormal heart morphology, Abnormal tricuspid val... ORPHA:485405
Pelger-Huet Anomaly
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect OMIM:169400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Depressed nasal bridge, Ventricular septal defect OMIM:617895
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Pulm... OMIM:201000
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Short nose, Wide nasal bridge, Narrow nasal bridge, Anteverted nares, Recur... OMIM:619383
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Abnormal lung lobation, Atrial septal defect, Bulbous nose, Short no... OMIM:614114
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Pn... ORPHA:26793
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Prominent nose, Broad nasal tip OMIM:618665
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Tracheobronchomalacia, Patent foramen ovale, Long nose, Prominent nasal bridge OMIM:619184
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Patent ductus arteriosus, Cor triatriatum, Wide nasal bridge, Pulmonic sten... OMIM:612541
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... ORPHA:289
Filippi Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Prominent nasal bridge, ... ORPHA:3255
Fetal Alcohol Syndrome
Atrial septal defect, Anteverted nares, Short nose ORPHA:1915
19P13.12 Microdeletion Syndrome
Atrial septal defect, Anteverted nares, Narrow nasal bridge, Ventricular septal defect ORPHA:254346
Noonan Syndrome 13
Mitral valve prolapse, Atrial septal defect, Anteverted nares, Wide nasal bridge OMIM:619087
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Prominent nasal bridge, Wide nose, Ventricular septal defect ORPHA:505237
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Pleural effusion, Pericardial effusion, Umbilica... OMIM:235510
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Patent ductus arteriosus, Umbi... OMIM:618454
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Atrial septal defect, Patent ductus arteriosus, Depressed nasal ... ORPHA:1860
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery steno... ORPHA:96167
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
16P13.11 Microdeletion Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Anteverted nares, Depressed nasal br... ORPHA:261236
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Spina bifi... ORPHA:52
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Congenital Disorder Of Glycosylation, Type Ig
Respiratory tract infection, Patent ductus arteriosus, Patent foramen ovale, Recurrent respirator... OMIM:607143
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic v... ORPHA:371428
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Depressed nasal bridge ORPHA:459061
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Marshall-Smith Syndrome
Atrial septal defect, Short nose, Choanal atresia, Patent ductus arteriosus, Umbilical hernia, La... OMIM:602535
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Bulbous nose, Ventricular septal defect ORPHA:2328
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Bulbous nose, Patent ductus arteriosus, Bifid nose, Depressed nasal bridge ORPHA:261279
Hyperphosphatasia With Mental Retardation Syndrome 2
Atrial septal defect, Short nose, Wide nasal bridge, Broad nasal tip OMIM:614749
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:617159
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal bridge, Lar... ORPHA:2637
Adams-Oliver Syndrome 5
Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Pat... OMIM:616028
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral stenosis, Tricuspid valve prolapse, Patent foramen ovale, Mitral valve ... OMIM:212093
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Death in infancy, Tracheoesophageal fistula,... OMIM:300514
Phaver Syndrome
Pulmonary artery atresia, Myelomeningocele, Depressed nasal bridge, Ventricular septal defect ORPHA:2876
Chromosome 10Q26 Deletion Syndrome
Prominent nose, Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge OMIM:609625
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Depressed nasal bridge ORPHA:397709
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Choanal ... OMIM:617063
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Umbilical hernia, Pulmonary hypopla... OMIM:613177
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections, Ventricular septal defect ORPHA:3078
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Choanal atresia, Patent ductus arterios... OMIM:612562
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Char Syndrome
Depressed nasal bridge, Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Pulmonary hypoplasia, Cardiomegaly, Ventricular septal defect OMIM:617022
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Patent foramen ova... OMIM:616866
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Recurrent respiratory infections, Ventricular septal defect OMIM:615508
Noonan Syndrome 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... OMIM:605275
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Choanal atresia, Anteverted nares, Abnormal heart morphology ORPHA:494344
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
20Q13.33 Microdeletion Syndrome
Narrow nose, Abnormal cardiac ventricle morphology, Bulbous nose, Atrial septal defect ORPHA:261311
Mosaic Trisomy 16
Atrial septal defect, Abnormal lung morphology, Ventricular septal defect, Abnormal heart morphol... ORPHA:1708
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve,... OMIM:121050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Bulbous nose, Choanal atresia, Patent ductus arteriosus, Wide nasal bridge,... OMIM:300968
Distal Monosomy 10Q
Atrial septal defect, Short nose, Patent ductus arteriosus, Wide nasal bridge, Spina bifida occul... ORPHA:96148
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Patent ductus arteriosus, Broad nasal tip, Recurrent upper respiratory trac... ORPHA:293939
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Wide nasal bridge, Recurrent pneumonia, Patent foramen ovale, Prominent nasal bridge OMIM:619179
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Ventricular septal defect ORPHA:79243
Donnai-Barrow Syndrome
Short nose, Ventricular septal defect, Umbilical hernia, Broad nasal tip, Depressed nasal bridge OMIM:222448
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Ventricular septal defect, Double outlet left ... ORPHA:2255
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus arteriosus, Pulmonic... OMIM:610759
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Abnormal heart morpho... ORPHA:453499
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis, Underdeveloped nasal alae, Abnormalit... ORPHA:436003
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology ORPHA:261197
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia, Prominent nasal bridge, Wide nose, Prominent nose ORPHA:85201
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Alveolar capillary dysplasia, Pulm... OMIM:265380
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Heart And Brain Malformation Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Ventricular septal defect OMIM:616920
Radio-Tartaglia Syndrome
Bulbous nose, Anteverted nares, Ventricular septal defect, Wide nasal bridge, Prominent nasal bri... OMIM:619312
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Inlet ventricular septal defect, Primum atrial septal defect OMIM:600309
19P13.3 Microduplication Syndrome
Prominent nose, Underdeveloped nasal alae, Ventricular septal defect ORPHA:447980
Spondyloocular Syndrome
Mitral valve prolapse, Atrial septal defect OMIM:605822
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, Anteverted nares, Abnorm... ORPHA:404440
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... OMIM:618223
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Stankiewicz-Isidor Syndrome
Prominent nose, Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Hardikar Syndrome
Patent foramen ovale, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:612726
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis, Umbilical hernia OMIM:618914
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Koolen-De Vries Syndrome
Pear-shaped nose, Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus ar... OMIM:610443
Ogden Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Pu... OMIM:300855
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia ORPHA:404443
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Costello Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Hypertrophic cardiomyopathy,... ORPHA:3071
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Bulbous nose, Abnormal heart valve morphology, Left ventricular hypertrophy... ORPHA:230851
Kabuki Syndrome 2
Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Broad nasal tip OMIM:300867
Bohring-Opitz Syndrome
Atrial septal defect, Wide nasal bridge, Ventricular septal defect OMIM:605039
Zellweger Syndrome
Depressed nasal bridge, Death in infancy, Wide nasal bridge, Ventricular septal defect ORPHA:912
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Death in childhood,... OMIM:600460
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Short nose, Ventricular septal defect OMIM:234050
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:147770
Distal Tetrasomy 15Q
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:314588
Fibrochondrogenesis 1
Short nose, Stillbirth, Patent foramen ovale, Anteverted nares, Depressed nasal bridge OMIM:228520
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Short nose, Patent ductus arteriosus, Depressed nasal bridge, Prominent nose ORPHA:363528
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Tetralogy of Fallot, Anteverted nares, Tracheoesophageal... ORPHA:1780
Distal Trisomy 5Q
Dextrocardia, Prominent nasal bridge, Short nose, Ventricular septal defect ORPHA:96097
Coffin-Siris Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal heart morphology, Recurrent... ORPHA:1465
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic frontal sinuses, Choanal atresia, Pa... OMIM:300712
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Laryngeal stridor, Laryngomalacia, A... OMIM:244450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Tracheoesophageal fistula, Ventricular septal defect ORPHA:77298
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Depressed nasal bridge, Bulbous nose, Dysplastic pulmonary valve OMIM:619103
Gm1 Gangliosidosis
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Aspiration pneumo... ORPHA:354
Ogden Syndrome
Pulmonary artery stenosis, Underdeveloped nasal alae, Ventricular septal defect ORPHA:276432
Trisomy 1Q
Depressed nasal bridge, Patent ductus arteriosus, Wide nose, Ventricular septal defect ORPHA:261344
Fg Syndrome Type 1
Atrial septal defect, Choanal atresia, Umbilical hernia, Mitral valve prolapse, Prominent nose ORPHA:93932
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Underdeveloped nasal alae, Ventricular septal defect ORPHA:217346
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Pulmonary lymphangiectasia, Wide nasal bridge, Ventricular septal defect OMIM:235255
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Peripheral pulmonary ... OMIM:617506
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Bulbous nose, Wide nasal bridge, Hypertrophic cardiomyopathy OMIM:617403
Monosomy 13Q34
Pulmonic stenosis, Broad nasal tip, Prominent nasal bridge, Common atrium, Prominent nose ORPHA:96168
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect OMIM:617164
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart... ORPHA:2473
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Choanal atresia, Depressed nasal bridge OMIM:207410
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, Double outlet right vent... ORPHA:2209
Gastrointestinal Defects And Immunodeficiency Syndrome
Ventricular septal defect OMIM:243150
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Atrial septal defect OMIM:619326
Codas Syndrome
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect, Anteverted nares,... OMIM:600373
Opitz Gbbb Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:2745
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent ductus arteriosus, Concentric hypertrophic cardiomyopathy, Death i... OMIM:610505
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Short nose, Patent ductus arteriosus, Pulmonary hypoplasia, Anteverted nare... OMIM:614080
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Short nose, Ventricular septal defect, Umbilical hernia, Perimembranous ventricular septal defect... OMIM:301040
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Long nose, Atrial septal defect, Underdeveloped nasal alae, Depressed nasal bridge ORPHA:457351
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect ORPHA:2728
Opitz Gbbb Syndrome, Type Ii
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngeal cleft, Umbil... OMIM:145410
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium OMIM:619143
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Car... OMIM:602782
Rabson-Mendenhall Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomyopathy, Prominent nasal bridge, Antevert... ORPHA:769
8P11.2 Deletion Syndrome
Mitral valve prolapse, Atrial septal defect, Patent ductus arteriosus, Depressed nasal bridge ORPHA:251066
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Syndromic Diarrhea
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Peripheral pulmonary ... ORPHA:84064
Distal Monosomy 6P
Atrial septal defect, Underdeveloped nasal alae, Anteverted nares, Wide nose, Depressed nasal bridge ORPHA:96125
Holt-Oram Syndrome
Secundum atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular sept... OMIM:142900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Short nose, Abnormal heart morphology, Patent ductus arteriosus, Patent for... ORPHA:505248
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Tracheomalacia, Spina bifida occulta, Tracheal s... OMIM:150250
Hamamy Syndrome
Atrial septal defect, Anteverted nares, Wide nasal bridge OMIM:611174
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Death in infancy OMIM:609069
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:208540
Diamond-Blackfan Anemia 10
Choanal atresia, Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
C Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, Wide nasal bridge, Anteverted nares OMIM:211750
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Death in infancy, Tracheomalacia, Meningocele, Myelomeni... ORPHA:1393
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Pulmonic stenosis, Double outlet right ventricle, Ventricular septal de... OMIM:301056
Duane-Radial Ray Syndrome
Atrial septal defect, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia... OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, B... ORPHA:261330
Jacobsen Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Anteverted nares, Recurrent respirat... OMIM:147791
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short nose, Ventricular septal defect, Patent ductus arteriosus, Pulmona... OMIM:616894
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy, Patent ductus arteri... ORPHA:369837
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Atrial septal defect, Recurrent infections due to aspiration ORPHA:70
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Bulbous nose, Ventricular septal defect, Pulmonary artery sling, Coronary s... OMIM:619268
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormal lung morphology, Anomalous origin of left pulmonary artery from ... ORPHA:141127
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Pallister-Hall Syndrome
Abnormal lung lobation, Bifid epiglottis, Short nose, Ventricular septal defect, Choanal atresia,... OMIM:146510
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Distal Monosomy 19P13.3
Pulmonary valve atresia, Umbilical hernia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia, Depressed nasal bridge OMIM:616546
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Kleefstra Syndrome
Short nose, Ventricular septal defect, Tracheomalacia, Pulmonary artery stenosis, Bicuspid aortic... ORPHA:261494
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tracheomalacia, Wide n... OMIM:300373
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Ventricular septal defect, Death in infancy, Tetralogy of Fal... OMIM:274000
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Bulbous nose, Short nose, Pulmonic stenosis, Anteverted nares, Hypertrophic... OMIM:115150
Loeys-Dietz Syndrome 5
Patent foramen ovale, Atrial septal defect, Prominent nasal bridge, Ventricular septal defect OMIM:615582
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus, Pneumonia OMIM:603467
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Atrial septal defect, Anteverted nares, Ventricular septal defect ORPHA:464738
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly