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Gene: Smarca4 MGI:88192

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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:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Synonyms:
SNF2beta,  SW1/SNF,  Brg1,  b2b508.1Clo,  b2b692Clo

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 Smarca4 mutations

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

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

The table below shows human diseases associated to Smarca4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhabdoid Tumor Predisposition Syndrome 2
Atypical teratoid/rhabdoid tumor, Rhabdoid tumor of the kidney OMIM:613325
Coffin-Siris Syndrome 4
Short 5th finger, Mitral atresia, Ventricular septal defect, Agenesis of corpus callosum, Microce... OMIM:614609
Coffin-Siris Syndrome
Short 5th finger, Delayed eruption of teeth, Abnormal heart morphology, Tetralogy of Fallot, Vent... ORPHA:1465

The table below shows human diseases predicted to be associated to Smarca4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Exostoses, Multiple, Type Iii
Multiple exostoses OMIM:600209
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Exostoses Of Heel
Exostoses OMIM:133600
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Chordoma, Susceptibility To
Astrocytoma, Chordoma OMIM:215400
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Micrognathia, Anophthalmia, Ventricular septal defect, Mic... OMIM:615524
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Mmep Syndrome
Microphthalmia, Microcephaly, Mandibular prognathia, Ventricular septal defect ORPHA:3434
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Hypoplasia of the maxilla, Limb undergrowth, Complete atrioventric... OMIM:619142
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Oslam Syndrome
Osteosarcoma ORPHA:2760
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Neoplasm, Osteosarcoma OMIM:601811
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Atrial se... OMIM:601322
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Adams-Oliver Syndrome 4
Cutis marmorata, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Micrognathia, Complet... OMIM:619343
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Feingold Syndrome 2
Short thumb, Secondary microcephaly, Short middle phalanx of the 2nd finger, Ventricular septal d... OMIM:614326
Feingold Syndrome Type 2
Short middle phalanx of finger, Microcephaly, Short thumb, Ventricular septal defect ORPHA:391646
Pierre Robin Syndrome
Cor pulmonale, Micrognathia OMIM:261800
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Pseudotrisomy 13 Syndrome
Polymicrogyria, 11 pairs of ribs, Complete atrioventricular canal defect, Ventricular septal defe... OMIM:264480
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Hypoplasia of the pons, Ventricular septal defect, Microcephaly, Atrial septal defect, Thin corpu... OMIM:614249
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Sonoda Syndrome
Ventricular septal defect OMIM:270460
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect ORPHA:1918
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Malar flattening, Abnormal mitral valve morph... ORPHA:1919
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Tetralogy of Fallot, Secondary microcephaly, Micrognathia, Malar flattening, Ve... OMIM:179613
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... OMIM:220210
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Eruption failure, Secondary microcephaly, Micrognathia, Partial absenc... ORPHA:476126
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap... OMIM:616858
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Xk Aprosencephaly Syndrome
Microphthalmia, Microcephaly, Atrial septal defect, Ventricular septal defect ORPHA:3469
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Meckel Syndrome, Type 8
Pericardial effusion, Microcephaly, Anophthalmia, Microphthalmia OMIM:613885
Criss-Cross Heart
Mitral stenosis, Cyanosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposi... ORPHA:1461
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:99811
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Agenesis of corpus callosum, Ventricular septal defect, Microphth... ORPHA:77298
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect OMIM:615731
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Breath-Holding Spells
Cyanosis OMIM:607578
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, M... OMIM:601355
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... OMIM:616276
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Cerebral ... OMIM:613759
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve morphology, Abnormal mitral valve ... ORPHA:1354
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microphthalmia, Dan... OMIM:164180
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Bilateral microphthalmos,... OMIM:601186
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Rhizomelic Syndrome
Microcephaly, Rhizomelia, Micrognathia, Pulmonic stenosis OMIM:268250
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect ORPHA:306550
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:3426
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Micrognathia, Conotruncal defect, Aplasia/hypoplasia involving bon... ORPHA:40366
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Atrial septal defect, Ventricular septal defect OMIM:608227
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Rhabdoid Tumor Predisposition Syndrome 2
Atypical teratoid/rhabdoid tumor, Rhabdoid tumor of the kidney OMIM:613325
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Ventric... ORPHA:1166
Double Outlet Left Ventricle
Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery ste... ORPHA:3427
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Microcephaly, Transposition of the ... ORPHA:1913
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Perching Syndrome
Cyanosis OMIM:617055
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Aortic aneurysm, Multiple muscular ventricular septal defects, Atrial septa... OMIM:620070
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Tetralogy of Fallot, Micrognathia, Complete atrioventricular canal defe... OMIM:617925
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Catel-Manzke Syndrome
Micrognathia, Malar flattening, Atrial septal defect, Ventricular septal defect ORPHA:1388
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Absence of the sacrum, Cerebral atrophy, Atrioventricula... OMIM:270100
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Trisomy 1Q
Microretrognathia, Anophthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventricular ... ORPHA:261344
Hydrolethalus
Retrognathia, Micromelia, Micrognathia, Absent septum pellucidum, Anophthalmia, Agenesis of corpu... ORPHA:2189
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Micrognathia, Hypoplasia ... ORPHA:2209
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Hamamy Syndrome
Dental malocclusion, Micrognathia, Complete atrioventricular canal defect, Enamel hypoplasia, Atr... OMIM:611174
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Periventricular leukomalacia, Atrial septal defect, Ventricular septal defect ORPHA:357225
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Werner Syndrome
Alopecia of scalp, Meningioma, Osteosarcoma OMIM:277700
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Ventricular septal defect, Abnormal cardiac septum morphology, Macrocephaly, Mega... ORPHA:83473
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Malar flattening, Atrial... ORPHA:3378
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Patent ductus arteriosus OMIM:619519
Hemihyperplasia, Isolated
Myelomeningocele, Embryonal neoplasm, Nephroblastoma OMIM:235000
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Elevated hepatic iron concentration, Anemia, Decreased mean c... OMIM:206100
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia, Ventricular septal defect OMIM:613730
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Pentasomy X
Small hand, Micrognathia, Microcephaly, Abnormal cardiac septum morphology, Short foot, Patent du... ORPHA:11
Congenital Myopathy 11
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619967
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Short thumb, Retrognathia, Tetralogy of Fallot, Micrognathia, Mitral val... OMIM:612561
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Micrognathia, Abnormal aortic mor... ORPHA:1926
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Micrognathia, Abnormal aortic morphology, Truncus arteriosus, Ven... ORPHA:2516
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618330
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum ORPHA:217
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Ventricular sept... OMIM:612946
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Micrognathia, Mitral valve prolapse, Ventricular septal defe... OMIM:142900
8Q24.3 Microdeletion Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Ventricular septal defect, Short hallu... ORPHA:508488
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Dextrocardia, Ventricular septal defect OMIM:614294
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Osteosarcoma, Widow's peak, Synophrys OMIM:620072
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Agenesi... OMIM:618142
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum ORPHA:411986
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Upper limb undergrowth, Micrognathia, Absent septum pellucidum, Compl... OMIM:236680
Ramos-Arroyo Syndrome
Patent ductus arteriosus OMIM:122430
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial sep... OMIM:618652
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Cryptorchidism, Nail dystr... OMIM:268400
Hamel Cerebro-Palato-Cardiac Syndrome
Microcephaly, Micrognathia, Malar flattening, Atrial septal defect ORPHA:93946
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Retrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect,... OMIM:301056
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Missi... OMIM:151100
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Atrioventricular canal defect, Short first me... OMIM:619135
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Prominence of the premaxilla, Microcephaly, Double outlet right ventricle, Atri... OMIM:614886
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Agenesis of corp... OMIM:300887
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Microcephaly, Microretrognathia ORPHA:276422
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Anencephaly, Ventricular septal defect ORPHA:2476
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Short distal ... ORPHA:2513
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agene... OMIM:206900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620024
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Mandibular prognathia, Malar flattening, ... ORPHA:94066
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Rothmund-Thomson Syndrome Type 1
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Alopecia totalis, Sparse or absent eyela... ORPHA:221008
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Aplasia/Hypoplasia of the patella, Ventricular septal def... OMIM:617063
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Rothmund-Thomson Syndrome Type 2
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Alopecia totalis, Sparse or ab... ORPHA:221016
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Cutaneous myxoma, Ovarian cyst, Hyperpituitarism, Elevated circulating growth ... ORPHA:249
Congenital Heart Block
Endocardial fibroelastosis, Cyanosis, Patent foramen ovale, Pericardial effusion, Patent ductus a... ORPHA:60041
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Microcephaly, Delayed eruption of permanent teeth, Ventricular septal defect OMIM:618506
Oculoauriculofrontonasal Syndrome
Micrognathia, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Macrocephaly ORPHA:398156
X-Linked Lissencephaly With Abnormal Genitalia
Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Microcephaly, Pachygyria, P... ORPHA:452
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Micrognathia, Ventricular septal defect, Microcephaly, Patent... OMIM:613680
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Micrognathia, Patent foramen ovale, Ventricular septal defect, Agenesis o... OMIM:301043
Lambotte Syndrome
Microcephaly, Retrognathia, Ventricular septal defect OMIM:245552
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Patent ductus arteriosus ORPHA:261102
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Congenital Tricuspid Valve Dysplasia
Cyanosis, Patent foramen ovale, Abnormal tricuspid valve annulus morphology, Cardiomegaly, Tricus... ORPHA:555874
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Microphthalmia ORPHA:93267
Sotos Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... OMIM:117550
Holt-Oram Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Absent thumb, Atrioventricular canal de... ORPHA:392
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Ventricular septal defect, Microcephaly, Atrial septal defect,... OMIM:611134
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Ventricular septal defect, Progressive macrocephaly, Cavum septum pellucidum, Mic... OMIM:602501
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Anophthalmia, Agenesis of corpus callosum, Microcephaly, M... ORPHA:139471
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot... ORPHA:1908
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Cyanosis, Truncus arteriosus, Ve... OMIM:617478
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly OMIM:182940
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Anophthalmi... ORPHA:899
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
B-cell lymphoma, Burkitt lymphoma, Osteochondroma OMIM:620232
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Atrioventricular canal defect, Micrognathia, Ventricular septal def... OMIM:619123
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Polymicrogyria, Macrocephaly, Hypoplasia of the corpus callosum, Ventricu... OMIM:603387
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Ventricular septal defect ORPHA:1296
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Subcortical white matter calcifications, Delayed e... ORPHA:90322
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Ventricular septal defect, Microcephaly, Aplasia/Hypoplasia o... ORPHA:2772
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... ORPHA:371428
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy, Ventricular septal defect OMIM:309801
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Micrognathia, Ventricular s... ORPHA:1727
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Microretrognathia, Secundum atrial septal defect, Hypoplasia of the... OMIM:619909
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Left ventricular... OMIM:615355
Microphthalmia With Limb Anomalies
Finger aplasia, Retrognathia, Foot oligodactyly, Anophthalmia, Fibular hypoplasia, Interrupted in... OMIM:206920
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum, Ventricular septal defect OMIM:619083
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Congenital Rubella Syndrome
Jaundice, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:290
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Micrognathia, Right aortic arch, Hypoplasia of the corpus callosum, V... OMIM:617616
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect, Microcephaly OMIM:617364
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrocephaly, Abnormally large globe, Ventricular septal defect OMIM:618504
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis... OMIM:620067
Char Syndrome
Patent ductus arteriosus OMIM:169100
Renal Tubular Dysgenesis
Tetralogy of Fallot, Microcephaly ORPHA:3033
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Ventricular septal defect OMIM:616816
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Polymicrogyria, Abnormal heart morphology, Hypoplasia of the bra... ORPHA:500159
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Patent ductus ar... OMIM:241310
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:613870
Grange Syndrome
Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Atrial septal defect OMIM:620662
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Atrioventricular canal defect, Abnormal aortic valve... ORPHA:1120
Joubert Syndrome 15
Exencephaly OMIM:614464
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Atrioventricular canal defect, Micrognathia, Microcephaly, Macular hypoplasia OMIM:613792
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Atypical Werner Syndrome
Neoplasm of the skin, Abnormal hair whorl, Alopecia, Neoplasm of the oral cavity, Meningioma, Abn... ORPHA:79474
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Polymicrogyria, Cavum s... OMIM:620609
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic aneurysm, Patent ductus arteriosus ORPHA:98892
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Solitary Median Maxillary Central Incisor
Microcephaly, Anophthalmia, Microphthalmia OMIM:147250
Phace Association
Arterial stenosis, Ventricular septal defect, Cerebellar hypoplasia, Coarctation of aorta, Aortic... OMIM:606519
Noonan Syndrome 12
Tetralogy of Fallot, 11 pairs of ribs, Ventricular septal defect OMIM:618624
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Abnormal cortical gyration, Short thumb, Absent hand, Amelia, Absent septum pe... ORPHA:2538
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect OMIM:243440
Weill-Marchesani Syndrome
Aortic valve stenosis, Short thumb, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Microphthalmia, Syndromic 2
Aortic valve stenosis, Dental malocclusion, Delayed eruption of teeth, Persistence of primary tee... OMIM:300166
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Chronic sinusitis, Partial atrioventricular ... OMIM:619608
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial sep... ORPHA:401935
Kapur-Toriello Syndrome
Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Dysplastic corpus callosum, Micro... ORPHA:2328
Feingold Syndrome Type 1
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... ORPHA:391641
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Frank-Ter Haar Syndrome
Abnormally large globe, Secundum atrial septal defect, Dental malocclusion, Micrognathia, Mitral ... OMIM:249420
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Cyanosis, Dextrocardia, Hypo... ORPHA:2257
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale OMIM:616867
Diamond-Blackfan Anemia
Malignant genitourinary tract tumor, Low anterior hairline, Acute myeloid leukemia, Adenocarcinom... ORPHA:124
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus... OMIM:601005
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal heart morphology, Abnormal inf... ORPHA:980
Holoprosencephaly 14
Absent septum pellucidum, Ventricular septal defect, Microcephaly, Partial absence of cerebellar ... OMIM:619895
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Cerebral... ORPHA:1782
Intellectual Developmental Disorder, Autosomal Recessive 79
Short hallux, Ventricular septal defect OMIM:620393
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Alg12-Cdg
Biventricular hypertrophy, Patent ductus arteriosus, Patent foramen ovale, Muscular ventricular s... ORPHA:79324
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Fibular Hemimelia
Short tibia, Short toe, Abnormal heart morphology, Foot oligodactyly, Fibular aplasia, Anophthalm... ORPHA:93323
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Bruising susceptibility, Mucoid extrace... ORPHA:91387
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Ventricular septal defect ORPHA:3369
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Verheij Syndrome
Short 5th finger, Retrognathia, Cerebral atrophy, Truncus arteriosus, Ventricular septal defect, ... OMIM:615583
Fetal Encasement Syndrome
Tetralogy of Fallot, Lower limb undergrowth, Upper limb undergrowth OMIM:613630
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Aniridia, Anophthalmia, Tricuspid valve prolapse, Mandibular prognathia ORPHA:1101
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Retrognathia, Ventricular septal defect, Microcephaly, Microphthalmia,... OMIM:234050
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Hypoplasia of the pons, Tetralogy of Fallot, Mitral stenosi... ORPHA:163956
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:2412
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Thin corpus callosum, Ventricular septal defect OMIM:616277
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Micrognathia, Ventricular septal defect, Hypoplasi... ORPHA:2256
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Atrioventricular canal defect, Cerebellar hypoplasia, Tricuspid valve prolapse... ORPHA:276413
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:608779
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Hypoplasia of the corpus callosum, ... OMIM:613001
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia... OMIM:618325
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Cerebral atrophy, Hypoplasia of the co... OMIM:614261
Lethal Congenital Contracture Syndrome 2
Micrognathia, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Proboscis Lateralis
Abnormal corpus callosum morphology, Abnormality of the maxillary sinus, Abnormal facial skeleton... ORPHA:141099
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Tetraamelia Syndrome 2
Microretrognathia, Micrognathia, Amelia, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
8Q12 Microduplication Syndrome
Short foot, Atrial septal defect, Ventricular septal defect ORPHA:228399
Lowry-Maclean Syndrome
Hypoplasia of the maxilla, Retrognathia, Aplasia/Hypoplasia of the corpus callosum, Atrioventricu... ORPHA:2409
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the ... ORPHA:2549
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Joubert Syndrome 18
Agenesis of cerebellar vermis, Agenesis of corpus callosum, Retrognathia, Ventricular septal defect OMIM:614815
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:2863
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Microcephaly 13, Primary, Autosomal Recessive
Small hand, Restrictive cardiomyopathy, Micrognathia, Cerebellar hypoplasia, Microcephaly, Primar... OMIM:616051
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Absent radius, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the uln... ORPHA:1352
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Absent septum pellucidum, Patent foramen ovale, ... OMIM:609053
Holoprosencephaly
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot,... ORPHA:2162
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Overriding aorta ORPHA:3186
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Filippi Syndrome
Microcephaly, Serrated incisors, Ventricular septal defect OMIM:272440
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Retrognathia, Micrognathia, Truncus arteriosus, Ventricular septal def... OMIM:617516
Asbestos Intoxication
Cor pulmonale, Oxygen desaturation on exertion, Cyanosis, Hypoxemia, Myocardial fibrosis ORPHA:2302
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:617751
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Retrognathia, Hypertrophic cardiomyopathy, Abnormal dental enamel morphol... ORPHA:2556
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Absent septum pellucidum, Ventricular septal defect, Short femur OMIM:601357
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Premature skin wrinkling, Abnormal ... ORPHA:363705
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Myelodysplasia, Colon cancer, Osteosarcoma OMIM:105650
Chromosome 5Q12 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:615668
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v... ORPHA:335
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus ORPHA:1516
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atrophy, Hy... OMIM:616920
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Polymicrogyria, Periventricular leukomalacia, Hypoplasi... ORPHA:79243
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Limb undergrowth, Left superior vena cava draining to coronary sin... OMIM:619143
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Hypoplastic left heart, Patent ductus arteriosus OMIM:617661
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of aorta, Atrial sep... OMIM:606003
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Microcephaly, Micrognathia, Mandibular prognathia, Retrognathia ORPHA:2521
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus OMIM:610498
Wolcott-Rallison Syndrome
Microcephaly, Double outlet right ventricle, Atrial septal defect ORPHA:1667
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Cerebellar vermis hypoplasia, Natal tooth, Micrognathia, Ventricular septal defect, Dandy-Walker ... OMIM:616901
Craniofacial Dyssynostosis With Short Stature
Malar flattening, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular sep... OMIM:218350
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Ventricular septal defect, Atrial septal defect, Macrocephaly, Pate... OMIM:619769
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes... OMIM:610655
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Cerebral atrophy, Polymicrogyria, Abnormal heart morphology, Patent... OMIM:618494
Insulin-Like Growth Factor I, Resistance To
Small hand, Retrognathia, Short finger, Rieger anomaly, Micrognathia, Hypoplasia of the corpus ca... OMIM:270450
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Situs inversus totalis, Anophthalmia, Ap... ORPHA:564
6P22 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:251046
3P25.3 Microdeletion Syndrome
Acromesomelia, Micrognathia, Coronary artery atherosclerosis, Ventricular septal defect, Cerebral... ORPHA:435638
Periventricular Nodular Heterotopia 7
Microretrognathia, Polymicrogyria, Micrognathia, Hypoplasia of the corpus callosum, Ventricular s... OMIM:617201
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Thin corpus callosum, Ventricular septal defect OMIM:619908
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Distal Deletion 17Q
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:1597
Short Stature And Facioauriculothoracic Malformations
Microcephaly, Ventricular septal defect OMIM:609654
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy, Cyanosis ORPHA:444013
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Persistent left superior vena cava, Transposition o... OMIM:314390
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Hypertrophic cardiomyopathy, Secondary microcephaly, Ventricular septal defect, Dan... OMIM:612938
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... OMIM:612474
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... ORPHA:329224
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Small hand, Short distal phalanx of fing... ORPHA:1596
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Braddock-Carey Syndrome 1
Small hand, Agenesis of corpus callosum, Aortic valve prolapse, Microcephaly, Ventricular septal ... OMIM:619980
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Hypoplasia of the corpus callosum, Ventricular septal defect OMIM:620210
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Venous insufficiency, Atrial septal defect, Patent ductus ar... ORPHA:90308
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Cerebral atrophy, Mitral atresia, Ventricular sept... OMIM:618164
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Patent ductus arteriosus ORPHA:1972
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Vacterl With Hydrocephalus
Absence of the sacrum, Retrognathia, Micrognathia, Anophthalmia, Hypoplasia of the radius, Microp... ORPHA:3412
Cockayne Syndrome Type 1
Basal ganglia calcification, Hypoplasia of the primary teeth, Anophthalmia, Delayed eruption of p... ORPHA:90321
Ciliary Dyskinesia, Primary, 30
Chronic sinusitis, Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Seckel Syndrome 9
Pulmonary artery hypoplasia, Micrognathia, Ventricular septal defect, Microcephaly, Atrial septal... OMIM:616777
Analbuminemia
Patent ductus arteriosus OMIM:616000
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Hypoplasia of the corpus callosum, Ventricular septal defect, Short ribs, Microcephaly, Atrial se... ORPHA:2519
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Emanuel Syndrome
Aortic valve stenosis, Broad jaw, Cerebral atrophy, Micrognathia, Hypoplasia of the corpus callos... OMIM:609029
Adams-Oliver Syndrome 6
Foot oligodactyly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Prune Belly Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:2970
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Short 5th metacarpal, Micrognathia, Anophthalmia, Malar flattening, Agenesis... ORPHA:264200
Kabuki Syndrome 2
Short 5th finger, Natal tooth, Dental malocclusion, Atrioventricular canal defect, Micrognathia, ... OMIM:300867
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect ORPHA:49827
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular... OMIM:157800
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Severe X-Linked Intellectual Disability, Gustavson Type
Micrognathia, Ventricular septal defect, Cerebellar hypoplasia, Microcephaly, Dandy-Walker malfor... ORPHA:3078
Warsaw Breakage Syndrome
Tetralogy of Fallot, Microcephaly, Ventricular septal defect OMIM:613398
Intellectual Developmental Disorder, Autosomal Dominant 47
Microcephaly, Cerebral atrophy, Ventricular septal defect OMIM:617635
Charge Syndrome
Unilateral microphthalmos, Micrognathia, Anophthalmia, Ventricular septal defect, Overriding aort... OMIM:214800
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect OMIM:249270
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... OMIM:113000
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Agenesis of corpus callosum, Ventricular septal defect, Macrocephaly, Patent ductus... ORPHA:52055
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Microcephaly, Biparietal narrowing, Atrial septal defect, Ventricular septal defect ORPHA:261190
Distal Duplication 5Q
Carious teeth, Absent thumb, Micrognathia, Ventricular septal defect, Microcephaly, Hypoplasia of... ORPHA:96097
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Secondary microcephaly, 11 pairs of ribs, Micrognathia, Hypoplasia ... OMIM:620073
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, Macrocephaly OMIM:615877
Cantu Syndrome
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... OMIM:239850
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Micromelia, Absent septum pellucidum, Patent foramen ovale, Ventricular septal... OMIM:618870
Mandibulofacial Dysostosis, Guion-Almeida Type
Micrognathia, Malar flattening, Ventricular septal defect, Microcephaly, Progressive microcephaly... OMIM:610536
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis OMIM:615812
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Macrodontia of permanent maxillary central incisor, Ventricular sep... OMIM:618067
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Patent foramen ovale, Ventri... OMIM:300855
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Cyanosis, Pulmonary arteriove... ORPHA:2038
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Absent radi... OMIM:115470
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Microcephaly, Ventricular septal defect ORPHA:3306
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept... OMIM:612582
Williams Syndrome
Peripheral pulmonary artery stenosis, Abnormal cerebral vascular morphology, Hypertrophic cardiom... ORPHA:904
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus OMIM:619797
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Tetrasomy 15Q26
Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus OMIM:614846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... OMIM:253800
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... ORPHA:3282
Burn-Mckeown Syndrome
Micrognathia, Mandibular prognathia, Atrial septal defect, Ventricular septal defect OMIM:608572
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis ORPHA:391428
Giant Cell Arteritis
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Atrial septal defect ORPHA:1842
3Q29 Microduplication Syndrome
Macrocephaly, Aniridia, Ventricular septal defect, Microcephaly, Microphthalmia, Biparietal narro... ORPHA:251038
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Roifman Syndrome
Short toe, Ventricular septal defect, Noncompaction cardiomyopathy, Microcephaly, Short metacarpal OMIM:616651
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Abnormal heart morphology, Micrognathia, Hypoplasia of the corpus c... ORPHA:494344
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, P... OMIM:616564
Atelis Syndrome 1
Carious teeth, Atrial septal defect, Ventricular septal defect OMIM:620184
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Suleiman-El-Hattab Syndrome
Microretrognathia, Patent foramen ovale, Ventricular septal defect, Microcephaly, Atrial septal d... OMIM:618950
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus ORPHA:2123
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Secundum atrial septal defect, Petechiae, Cerebral hemorrhage OMIM:617397
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe... OMIM:180849
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Micrognathia, Ventricular septal defect, Cardiomegaly, Microcephaly,... OMIM:616897
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Phace Syndrome
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... ORPHA:42775
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Retrognathia, Cerebral atrophy, Hypoplasia of the corpus callosum, Ve... OMIM:614576
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, V... OMIM:616449
Pseudo-Torch Syndrome 1
Jaundice, Patent ductus arteriosus, Petechiae, Patent foramen ovale OMIM:251290
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Retrognathia, Secondary microcephaly, Patent foramen ovale, Ventricular septal defect, Hypoplasia... OMIM:620113
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Malar flattening, ... OMIM:605627
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Aase-Smith Syndrome I
Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus ORPHA:2547
Charge Syndrome
Interrupted aortic arch, Hypoplasia of the zygomatic bone, Delayed eruption of teeth, Tetralogy o... ORPHA:138
Thanatophoric Dysplasia
Patent ductus arteriosus, Atrial septal defect ORPHA:2655
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:614857
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Hypoplasia of the corpus callosum, Ventricular septal ... OMIM:618619
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Ventricular septal defect, Sh... OMIM:169400
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis OMIM:610205
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Agenesis of corpus callosum, Coarctation of aorta, Dextrocardia, M... OMIM:618929
Galloway-Mowat Syndrome 7
Micrognathia, Microcephaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Foam cells ORPHA:747
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Patent ductus arteriosus OMIM:608799
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Atrial Septal Defect, Coronary Sinus Type
Transient ischemic attack, Anomalous origin of the left common carotid artery from the main pulmo... ORPHA:99104
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Reduced cerebral white matter volume, Delayed eruption of t... OMIM:280000
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Atrial septal defect ORPHA:93274
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Intracranial hemorrhage, Hypoplasia of... OMIM:614424
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis OMIM:618223
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Secundum atrial septal defect, Partial atrioventricular canal defect, Ventr... OMIM:620066
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Ventricular septal defect, Limb undergrowt... OMIM:608149
Beck-Fahrner Syndrome
Periventricular leukomalacia, Ventricular septal defect, Cardiomegaly, Microcephaly, Macrocephaly OMIM:618798
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Patent foramen ovale, Ventricular septal defect, Microcephaly, Atrial septal defect... OMIM:208085
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Hypoplasia of the pons, ... OMIM:616202
Pontocerebellar Hypoplasia, Type 8
Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secondary microcephaly, Hypopl... OMIM:614961
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Jansen-De Vries Syndrome
Bicuspid aortic valve, Small hand, Short foot, Ventricular septal defect OMIM:617450
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Varicose veins, Microphthalmia, Pat... OMIM:153400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, Ventricular septal... OMIM:210710
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Short clavicles, Coarctation of aorta, Atrial sep... OMIM:617159
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy OMIM:616866
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Microcephaly, Atrial ... OMIM:617452
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect ORPHA:896
Keutel Syndrome
Pulmonary artery stenosis, Short distal phalanx of finger, Recurrent sinusitis, Ventricular septa... ORPHA:85202
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Vent... OMIM:619503
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Optic disc hypoplasia, Hypoplasia of the corpus callosum,... OMIM:300514
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Micromelia, Short ribs, Ventricular septal defect, Hypoplasia of the radius, Relative macrocephaly OMIM:617895
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Polymicrogyria, Tetralogy of Fallot, Periventricul... OMIM:100300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Ventricular septal defect, Microcephaly, Atrial septal defect, Patent ductus a... ORPHA:457193
Williams-Beuren Region Duplication Syndrome
Cutis marmorata, Patent ductus arteriosus OMIM:609757
Carpenter Syndrome 1
Hypoplasia of the maxilla, Cerebral atrophy, Aplasia/Hypoplasia of the corpus callosum, Tetralogy... OMIM:201000
Emanuel Syndrome
Aortic valve stenosis, Broad jaw, Delayed eruption of teeth, Cerebral atrophy, Micrognathia, Trun... ORPHA:96170
Congenital Tracheal Stenosis
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,... ORPHA:141127
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal ... OMIM:612562
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of the olfactory bulb, Failure of eruption of permanent teeth, Anophthalmia, Microphth... ORPHA:2250
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:220500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary l... OMIM:265380
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Fanconi Anemia, Complementation Group N
Absent thumb, Short thumb, Ventricular septal defect, Microcephaly, Atrial septal defect, Hypopla... OMIM:610832
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Cerebellar hypoplasia, Pulmonary artery stenosis, Atrial septal defect... ORPHA:75389
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Encephalomalacia, Atrial septal defect, Macrocephaly, Optic nerve hypo... OMIM:615879
Nephrotic Syndrome, Type 11
Micrognathia, Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Donnai-Barrow Syndrome
Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect ORPHA:2143
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus ORPHA:171839
Short Stature-Micrognathia Syndrome
Rhizomelia, Retrognathia, Micrognathia, Ventricular septal defect, Microcephaly OMIM:617164
Ssr4-Cdg
Patent ductus arteriosus ORPHA:370927
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Cerebral cortical atrophy, Retrognathia, Aplasia/Hypoplasia of the corpus callosum, Ventricular s... ORPHA:505237
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... OMIM:121050
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Vasculitis, Purpura, Acrocyanosis, Urticaria ORPHA:343
Woods Syndrome
Ventricular septal defect OMIM:615236
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Hypoxemia, Abnormal pulmonary vein morphology, Cyanosis ORPHA:199241
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Cerebral cortical atrophy, Tetralogy of Fallot, Conotruncal defect, Absent... ORPHA:96147
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Codas Syndrome
Hypoplasia of the odontoid process, Delayed eruption of teeth, Atrioventricular canal defect, Hyp... OMIM:600373
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus OMIM:618961
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def... ORPHA:369891
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Inferior cerebellar vermis hypoplasia, Dental... ORPHA:444072
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental maloc... OMIM:610829
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microcephaly, Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
19P13.3 Microduplication Syndrome
Microcephaly, Micrognathia, Cerebral atrophy, Ventricular septal defect ORPHA:447980
Kapur-Toriello Syndrome
Short thumb, Polymicrogyria, Ventricular septal defect, Atrial septal defect, Microphthalmia, Pac... OMIM:244300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Ventricular septal defect, Dysplastic corpus callosum, Microcephaly, Dyspla... OMIM:619103
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Micrognathia, Mitral ... OMIM:605275
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Ventricular septal defect, Cerebella... OMIM:300963
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Tetralogy o... OMIM:192430
Desbuquois Syndrome
Small hand, Ventricular septal defect ORPHA:1425
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Micrognathia, Ventricular septal defect, Microcephaly, Atrial septal defect, Patent... OMIM:617061
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus OMIM:243310
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:620327
Tyshchenko Syndrome
Hypoplasia of the corpus callosum, Atrial septal defect, Pulmonic stenosis, Ventricular septal de... OMIM:615102
Teebi Hypertelorism Syndrome 1
Small hand, Natal tooth, Aortic root aneurysm, Micrognathia, Ventricular septal defect, Atrial se... OMIM:145420
Noonan Syndrome 3
Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal d... OMIM:609942
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the iris, Malar flattening, Agenesis of ... OMIM:222448
Odontochondrodysplasia
Patent ductus arteriosus ORPHA:166272
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, ... OMIM:309520
Fliedner-Zweier Syndrome
Hypoplasia of the corpus callosum, Ventricular septal defect, Bicuspid aortic valve, Microcephaly... OMIM:620511
Acute Interstitial Pneumonia
Pericardial effusion, Hypoxemia, Cyanosis ORPHA:79126
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Ri... OMIM:267010
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary valve, Patent ductus arte... OMIM:612863
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Micrognathia, Ventricular septal defect, Cerebellar hypoplas... OMIM:300712
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Tetralogy of Fallot, Micrognathia, Right aortic arch, Anophthalmia, Ma... OMIM:164210
Mosaic Trisomy 9
Micromelia, Abnormal heart valve morphology, Endocardial fibroelastosis, Micrognathia, Ventricula... ORPHA:99776
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Fraser Syndrome 1
Abnormal cortical gyration, Dental malocclusion, Bilateral microphthalmos, Aplasia/Hypoplasia of ... OMIM:219000
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Patent ductus arteriosus OMIM:618659
Toriello-Carey Syndrome
Abnormal corpus callosum morphology, Cardiomyopathy, Cerebral atrophy, Tetralogy of Fallot, Micro... ORPHA:3338
Aicardi-Goutieres Syndrome 1
Erythema, Vasculitis, Cardiomyopathy, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Acrocyanosis ORPHA:1867
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Micrognathia, Mitral val... OMIM:619472
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Agenesis of corpus callosum, Ventricular septal defect, Macrocephaly, Patent ductus... OMIM:300472
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Atrial septal defect, Excessive wrinkled skin ORPHA:1860
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Congenital-Onset Steinert Myotonic Dystrophy
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:589821
Tangier Disease
Left ventricular hypertrophy, Carotid artery stenosis, Coronary artery stenosis, Accelerated athe... ORPHA:31150
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Fibular aplasia, Micrognathia, Patellar aplasia, Ventricular septal defect, Carpal... OMIM:274000
Joubert Syndrome 21
Hypoplasia of the brainstem, Anophthalmia, Chronic sinusitis, Short ribs, Hypoplasia of the corpu... OMIM:615636
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Short 1st metacarpal, Atrioventricular canal ... OMIM:620568
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Micrognathia, Microphthalmia, Ventricular septal defect ORPHA:404440
Mycophenolate Mofetil Embryopathy
Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Coarctation of aorta, Micro... ORPHA:268249
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Cutis marmorata, Transi... ORPHA:183
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Ventricular septal defect, Dysplastic pulm... OMIM:601808
Dravet Syndrome
Cyanotic episode ORPHA:33069
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the brainstem, Secondary micro... OMIM:619306
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Microretrognathia, Dilation of Virchow-Robin spaces, Short finger, Periventricular white matter h... OMIM:300998
Phaver Syndrome
Short thumb, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypoplast... ORPHA:2876
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Kleefstra Syndrome
Cerebral cortical atrophy, Delayed eruption of teeth, Tetralogy of Fallot, Malar flattening, Vent... ORPHA:261494
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Short ribs, Ventricular septal defect OMIM:615630
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Tetralogy of Fallot, Abnormal pericardium morphology, Ventricul... ORPHA:1335
Cooper-Jabs Syndrome
Missing ribs, Malar flattening, Ventricular septal defect ORPHA:1488
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, 11 pairs o... OMIM:620025
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Optic ... ORPHA:79345
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Microcephaly, Right ventricular hypertrophy, Lissencephaly, Ventricular septal defect OMIM:613404
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Hypoplastic anterior limbs of the internal capsule, Microcephaly, Ence... OMIM:615673
Ogden Syndrome
Pulmonary artery stenosis, Microretrognathia, Cerebral atrophy, Ventricular septal defect ORPHA:276432
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Retrognathia, Tetralogy of Fallot, Hypoplasia of the corpus callosu... OMIM:619869
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect ORPHA:404443
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Ventricular septa... ORPHA:1458
Shashi-Pena Syndrome
Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Atrial septal defect OMIM:617190
Distal Deletion 3P
Atrioventricular canal defect, Microcephaly, Micrognathia ORPHA:1620
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Renal artery atheros... ORPHA:565612
Microphthalmia With Limb Anomalies
Finger aplasia, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Short tibia, Foot oligod... ORPHA:1106
Oculofaciocardiodental Syndrome
Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Abnormal cardiac septum morpholog... ORPHA:2712
C Syndrome
Micromelia, Micrognathia, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Limb... OMIM:211750
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Right atrial enlargement, Patent ductus arteriosus, Mitral valve prolapse ORPHA:555877
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Conotruncal defect, Malar flattening, Microcephaly, Ma... OMIM:610253
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Patent foramen ovale ORPHA:293939
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Micrognathia, Ventricular septal defect, Microcephaly, Coarctation of aorta, Subvalvu... OMIM:614114
Focal Dermal Hypoplasia
Midclavicular hypoplasia, Finger aplasia, Dental malocclusion, Midclavicular aplasia, Delayed eru... OMIM:305600
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Atrioventricular canal defect, Micrognathia, Ventricular septal defect, Microcephal... ORPHA:3047
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, V... ORPHA:464738
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Notch... OMIM:620519
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Micrognathia, Ventricular septal defect, Abnormal vena cava morphology... ORPHA:166035
Carpenter Syndrome
Patent ductus arteriosus ORPHA:65759
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Microretrognathia, Polymicrogyria, Agenesis of corpus callosum, Ven... ORPHA:1692
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Atrial septal defect OMIM:602482
Costello Syndrome
Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Mitral... ORPHA:3071
Recombinant 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, ... ORPHA:96167
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Delayed eruption of teeth, Retrognathia, Intestinal lymphangiectasia, Pachygyria, Mal... OMIM:235510
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus OMIM:619293
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Cyanosis, Left atrial enlargement, Left ventricular hypertrophy, Rig... ORPHA:99106
Telangiectasia, Hereditary Hemorrhagic, Type 1
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Telangiectasia, Arteriovenous fistu... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Misalignment of the pulmonary veins OMIM:265120
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Delayed eruption of teeth, Micromelia, Atrioventricular canal def... ORPHA:289
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Excessive wrinkled skin, Ventricular septa... ORPHA:2962
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Gm1 Gangliosidosis
Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology, Ventricular septal defe... ORPHA:354
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Microspherophakia, Hypoplasia of the maxilla, Ventricular septal defect, P... OMIM:277600
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... ORPHA:2473
Noonan Syndrome 4
Dental malocclusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect... OMIM:610733
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Bohring-Opitz Syndrome
Short toe, Retrognathia, Hypoplasia of the brainstem, Micrognathia, Mesomelic/rhizomelic limb sho... OMIM:605039
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Small hand, Secondary microcephaly, Micrognathia, Ventricular septal defect, Bi... OMIM:610759
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Hypoplasia of the corpus callosum, Vent... ORPHA:453499
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Retrognathia, Aplasia/Hypoplasi... OMIM:607932
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Patent ductus arteriosus ORPHA:261290
Ververi-Brady Syndrome
Microcephaly, Transposition of the great arteries OMIM:617982
19Q13.11 Microdeletion Syndrome
Microcephaly, Retrognathia, Ventricular septal defect ORPHA:217346
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal defec... ORPHA:261250
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Short toe, Retrognathia, Polymicrogyria, Tetralogy of Fallot, Foot oligodactyly, Te... OMIM:154400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Atrial sep... OMIM:602782
Prune Belly Syndrome
Patent ductus arteriosus OMIM:100100
Radio-Tartaglia Syndrome
Retrognathia, Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Microcephaly OMIM:619312
19P13.12 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventricular septal defect, Microcephaly, Atrial septal defect,... ORPHA:254346
Choanal Atresia
Cyanosis ORPHA:137914
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Cerebellar vermis hypoplasia, Aortic root aneurysm, Retrognathia, Second... OMIM:620654
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Cerebrocostomandibular Syndrome
Hydranencephaly, Cerebral calcification, Micrognathia, Ventricular septal defect, Microcephaly, P... ORPHA:1393
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Cardiomyopathy ORPHA:159
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:363528
Filippi Syndrome
Microcephaly, Ventricular septal defect ORPHA:3255
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Micrognathia, Ventricular septal defect, Macrocephaly, Short meta... OMIM:250410
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, P... OMIM:261740
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Acrocardiofacial Syndrome
Cerebral cortical atrophy, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular ... ORPHA:2008
Cohen Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Mitral valve prolapse,... ORPHA:193
Silver-Russell Syndrome 3
Patent ductus arteriosus OMIM:616489
Necrotizing Enterocolitis
Abnormal heart morphology, Cyanosis ORPHA:391673
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal heart morphology, Patent f... ORPHA:457279
Distal Triplication 15Q
Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus ORPHA:314588
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Atrial sep... ORPHA:2637
Deafness-Craniofacial Syndrome
Patent ductus arteriosus ORPHA:3241
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Dysplastic ... ORPHA:1600
Chromosome 1Q41-Q42 Deletion Syndrome
Cerebellar hypoplasia, Microcephaly, Microphthalmia, Ventricular septal defect OMIM:612530
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Zellweger Syndrome
Polymicrogyria, Micrognathia, Ventricular septal defect, Microcephaly, Macrocephaly ORPHA:912
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... ORPHA:500
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Micrognathia, Patent foramen ovale, Ventricular septal defect, Pulmon... OMIM:619268
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Patent foramen oval... OMIM:613457
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Patent ductus arteriosus, Flushing OMIM:259100
Koolen-De Vries Syndrome
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... OMIM:610443
Lateral Meningocele Syndrome
Bicuspid aortic valve, Aortic aneurysm, Patent ductus arteriosus, Ventricular septal defect OMIM:130720
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Patent f... OMIM:617506
Chops Syndrome
Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se... OMIM:616368
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Hyperintensity of cerebral white matter on MRI, Microcephaly, Macrocep... OMIM:617798
Opitz Gbbb Syndrome
Abnormal corpus callosum morphology, Aortic root aneurysm, Natal tooth, Abnormal heart morphology... ORPHA:2745
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect ORPHA:1790
Jacobsen Syndrome
Macrocephaly, Micrognathia, Ventricular septal defect, Missing ribs, Microcephaly, Macular hypopl... OMIM:147791
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Den Hoed-De Boer-Voisin Syndrome
Small hand, Global brain atrophy, Carious teeth, Yellow-brown discoloration of the teeth, Delayed... OMIM:619229
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Biparietal narrowing, Ventricular septal defect ORPHA:1770
Czech Dysplasia
Osteochondroma OMIM:609162
Fucosidosis
Cardiomegaly, Acrocyanosis, Vascular skin abnormality ORPHA:349
Smith-Lemli-Opitz Syndrome
Mesomelia, Rhizomelia, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosu... ORPHA:818
Goldberg-Shprintzen Syndrome
Small hand, Hypoplasia of the maxilla, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of... OMIM:609460
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Short 1st meta... ORPHA:2438
Wiedemann-Steiner Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:605130
Thoracoabdominal Syndrome
Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis OMIM:313850
Orofaciodigital Syndrome Type 2
Natal tooth, Short tibia, Atrioventricular canal defect, Peg-shaped maxillary lateral incisors, C... ORPHA:2751
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Subcutaneous hemorrhage, Cutis marmorata, Arterial stenosis, Telangie... ORPHA:1556
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Congenital Disorder Of Glycosylation, Type Iiaa
Patent ductus arteriosus after premature birth, Ventricular septal defect OMIM:620454
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:397709
Phelan-Mcdermid Syndrome
Dental malocclusion, Abnormal periventricular white matter morphology, Micrognathia, Malar flatte... OMIM:606232
Meckel Syndrome 14
Cyanosis, Single ventricle OMIM:619879
Mosaic Trisomy 16
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... ORPHA:1708
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus OMIM:615398
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis ... OMIM:617360
17Q23.1Q23.2 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:261279
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Patent foramen ovale OMIM:607143
Coffin-Siris Syndrome 4
Short 5th finger, Mitral atresia, Ventricular septal defect, Agenesis of corpus callosum, Microce... OMIM:614609
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Micrognathia, Ventricular septal defect, Agenesis of... ORPHA:3472
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Micrognathia, Ventricular septal defect, Microcephaly, Atrial septal d... ORPHA:251014
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Ventricular septal defect, Cerebellar hypoplasia, Microcephaly, Macrocephaly, Mandi... OMIM:212066
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Macrocephaly, Short ribs, Ventricular septal defect OMIM:615503
Tetrasomy 5P
Cyanosis ORPHA:3309
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Cleft mandible, Short finger, Micrognathia, Ventric... OMIM:608670
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Microretrognathia, Natal tooth, Polymicrogyria, Micrognathia, Hypop... OMIM:615948
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Bruising susceptibility, Patent ductus arteriosus OMIM:618162
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:217980
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent left superior vena cava, Pericardial effusion, Ventricula... OMIM:618775
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta, Atrial sept... OMIM:617602
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... OMIM:615474
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:609625
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Right atrial enlar... ORPHA:99103
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Hypoplasia of the zygomatic bone, Micrognathia, Ventricular septal defect, Limb u... OMIM:620663
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, Atrial septal defect, Dextrocardia OMIM:277380
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Atrial septal defect OMIM:617303
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect OMIM:219730
Distal Deletion 19P
Tricuspid valve prolapse, Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal ... ORPHA:96129
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Micrognathia, Ventricular s... ORPHA:52
White-Sutton Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:616364
Eisenmenger Syndrome
Bacterial endocarditis, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular canal de... ORPHA:97214
Combined Oxidative Phosphorylation Deficiency 15
Small hand, Ventricular septal defect, Ventricular septal hypertrophy, Microcephaly, Abnormal cer... OMIM:614947
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Duane-Radial Ray Syndrome
Absent thumb, Optic disc hypoplasia, Short thumb, Absent radius, Short humerus, Ventricular septa... OMIM:607323
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Micrognathia, Patent foramen ovale, Ventricular septal defect, Macrocephaly,... OMIM:616894
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:616737
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Micrognathia, Malar flattening, Ventricular septal defect, Thyroid l... OMIM:235255
Chromosome 13Q14 Deletion Syndrome
Micrognathia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus cal... OMIM:613884
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Dental malocclusion, Micrognathia, Ventricular septal defect, Microcephaly, Macroceph... ORPHA:251028
Tarp Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Cyanosis ORPHA:2886
Distal Deletion 10Q
Patent ductus arteriosus, Atrial septal defect ORPHA:96148
Peroxisome Biogenesis Disorder 1A (Zellweger)
Prolonged neonatal jaundice, Patent ductus arteriosus, Ventricular septal defect OMIM:214100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormally large globe, Pancreatic lymphangiectasis, Micrognathia, Ventricular septal defect, Pul... ORPHA:1655
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Polymicrogyria, Micrognathia, Hypoplasia... OMIM:618454
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial septal defect, Macrocephaly,... OMIM:620558
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Atrial septal defect OMIM:618005
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Absent radius, Ventricular septal defect, Microcephaly, Microphthalmia OMIM:227645
Orofaciodigital Syndrome V
Tetralogy of Fallot, Microcephaly, Agenesis of corpus callosum, Ventricular septal defect OMIM:174300
Focal Dermal Hypoplasia
Erythema, Ventricular septal defect, Telangiectasia of the skin, Abnormal cardiac septum morpholo... ORPHA:2092
Histiocytoid Cardiomyopathy
Cardiomegaly, Stroke-like episode, Cyanosis, Ventricular septal defect ORPHA:137675
Myhre Syndrome
Aortic valve stenosis, Hypoplasia of the maxilla, Short toe, Short finger, Microphthalmia, Malar ... OMIM:139210
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae OMIM:617053
7Q31 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Atrial septal defect ORPHA:251061
Chime Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Te... ORPHA:3474
Robinow Syndrome
Mesomelia, Short distal phalanx of finger, Dental malocclusion, Abnormal heart morphology, Persis... ORPHA:97360
Van Esch-O'Driscoll Syndrome
Retrognathia, Cerebral atrophy, Ventricular septal defect, Pulmonary artery stenosis, Microcephal... OMIM:301030
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of Fallot, Ventricular... ORPHA:84064
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonic stenosis OMIM:619148
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta, Cyanosis, Ventricular septal defect ORPHA:1199
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Macrocephaly, Left ventricular noncompaction cardiomyopathy, Righ... OMIM:300967
Trichothiodystrophy
Cerebral cortical atrophy, Carious teeth, Retrognathia, Cardiomyopathy, Bilateral microphthalmos,... ORPHA:33364
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Microspherophakia, Hypoplasia of the maxilla, Short finger, Ventricular se... OMIM:608328
Tolchin-Le Caignec Syndrome
Hirsutism, Cardiac rhabdomyoma, Osteochondroma, Thick eyebrow OMIM:618971
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Micrognath... OMIM:616975
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Microc... OMIM:244450
Unilateral Polymicrogyria
Abnormal heart morphology, Stroke, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Cerebrocostomandibular Syndrome
Carious teeth, 11 pairs of ribs, Micrognathia, 10 pairs of ribs, Malar flattening, Short humerus,... OMIM:117650
Mgat2-Cdg
Abnormal heart morphology, Patent ductus arteriosus, Ventricular septal defect ORPHA:79329
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Short toe, Short finger, Patent foramen ovale, Ventricular sep... OMIM:269860
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Patent ductus arteriosus OMIM:620475
ERI1-related disease
Abnormal heart morphology, Micrognathia, Limb undergrowth, Ventricular septal defect OMIM:608739
Tbck-Related Intellectual Disability Syndrome
Global brain atrophy, 11 pairs of ribs, Abnormal periventricular white matter morphology, Hypopla... ORPHA:488632
Doors Syndrome
Short 5th finger, Macrodontia of permanent maxillary central incisor, Short distal phalanx of fin... ORPHA:79500
D-Glyceric Aciduria
Patent ductus arteriosus OMIM:220120
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Ma... ORPHA:26793
Renpenning Syndrome 1
Cerebral atrophy, Tetralogy of Fallot, Micrognathia, Situs inversus totalis, Malar flattening, Ve... OMIM:309500
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus, Patent foramen ovale OMIM:618076
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Micrognathia, Malar flattening, Ventricular septal defect ORPHA:2789
Coffin-Siris Syndrome
Short 5th finger, Delayed eruption of teeth, Abnormal heart morphology, Tetralogy of Fallot, Vent... ORPHA:1465
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Ventricula... OMIM:123700
3Q29 Microdeletion Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:65286
Multiple Mitochondrial Dysfunctions Syndrome 7
Partial atrioventricular canal defect, Cyanosis OMIM:620423
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Cutis marmorata, Ventricular septal defect, Aortic aneurysm, Atrial septal... ORPHA:96121
Feingold Syndrome 1
Interrupted aortic arch, Short toe, Short thumb, Short middle phalanx of finger, Micrognathia, Ve... OMIM:164280
16P13.11 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Atrial septal defect, Ventricular septal defect ORPHA:261236
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect ORPHA:369929
Trisomy 18
Microretrognathia, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Microcep... ORPHA:3380
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Cardiomegaly, Coarctation of aorta OMIM:614921
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Varicose veins ORPHA:33001
Keutel Syndrome
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... OMIM:245150
Branchiooculofacial Syndrome
Short thumb, Micrognathia, Anophthalmia, Malar flattening, Microcephaly, Cleft of chin, Microphth... OMIM:113620
3Mc Syndrome 1
Conjunctival telangiectasia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal d... OMIM:257920
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Atrial septal defect, Hypoxemia, Ventricular septal defect OMIM:610978
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Calcification of the aorta, Cyanosis, Mitral valve calcification... ORPHA:60025
8P11.2 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Mitral valve prolapse ORPHA:251066
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Malar flattening, Truncus arteriosus, Ventricular septal defect, ... ORPHA:261330
Neu-Laxova Syndrome 1
Hydranencephaly, Micromelia, Micrognathia, Patent foramen ovale, Agenesis of corpus callosum, Ven... OMIM:256520
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Prominent superficial veins, Varicose veins, Cor triatriatum, Pate... OMIM:612541
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Secundum atrial septal defect, Ventricular se... ORPHA:870
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Mitral valve prolapse OMIM:104350
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta, Mitral stenosis OMIM:617260
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Atrial septal defect OMIM:603467
Marden-Walker Syndrome
Retrognathia, Micrognathia, Situs inversus totalis, Absent septum pellucidum, Agenesis of corpus ... ORPHA:2461
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Tetralogy of Fallot, Pericallosal lipo... ORPHA:306542
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Patent ductus arteriosus, Abnormal aortic valve morphology ORPHA:86818
Teebi-Shaltout Syndrome
Aortic valve stenosis, Microcephaly, Microphthalmia, Ventricular septal defect OMIM:272950
Fraser Syndrome
Dental malocclusion, Anophthalmia, Microcephaly, Limb undergrowth, Microphthalmia ORPHA:2052
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Craniofacial osteosclerosis, Dental malocclusion, Fibular aplasia, Micrognathia, Ven... OMIM:300373
Marshall-Smith Syndrome
Short distal phalanx of finger, Microretrognathia, Hypoplasia of the odontoid process, Retrognath... OMIM:602535
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus ORPHA:2095
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Ventricular septal defect, Cerebellar hypoplasia, Micr... ORPHA:163979
Lymphatic Malformation 13
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:620244
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Agenesis of corpus callosum, Ventricular septal defect, Microcephaly, Atria... ORPHA:209905
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Atrial septal defect OMIM:300968
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale, Concentric hypertrophic c... OMIM:610505
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Multiple Osteochondromas
Scapular exostoses, Rib exostoses, Osteochondroma, Chondrosarcoma ORPHA:321
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Ventricular septal defect, Tricuspid valve prolapse, Microce... ORPHA:261337
X Small Rings
Aortic root aneurysm, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, Ventricula... ORPHA:96201
Omodysplasia 1
Rhizomelia, Short tibia, Micrognathia, Malar flattening, Short humerus, Ventricular septal defect... OMIM:258315
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Carotid artery occlus... ORPHA:740
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Hypertrophic cardiomyopathy, Patent foramen ovale, Atrial septal defec... ORPHA:505248
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Increased axial length of the globe, Hyperplasia of the maxilla, Micrognathia, Right aortic arch,... ORPHA:513456
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Bruising susceptibility, Aortic dissection, Arterial tortuosity, Abnormal he... ORPHA:284984
Mosaic Trisomy 20
Craniofacial asymmetry, Retrognathia, Micrognathia, Abnormal mitral valve morphology, Dysplastic ... ORPHA:1724
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Atrial septal defec... OMIM:600268
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol... OMIM:613795
Juvenile Polyposis Of Infancy
Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Subcutaneous lipoma ORPHA:79076
Alg9-Cdg
Rhizomelia, Microretrognathia, Cerebral atrophy, Abnormal heart morphology, Micrognathia, Abnorma... ORPHA:79328
Ivic Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:147750
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Patent ductus arteriosus, Situs inversus totalis, Atrial septal defect OMIM:208540
Paternal Uniparental Disomy Of Chromosome 6
Retrognathia, Micrognathia, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus ORPHA:96191
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis OMIM:610921
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Cerebral calcification, Micrognathia, Ventricul... ORPHA:2710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Atrial septal defect OMIM:614080
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Short ribs, Short clavicles, Coarctation of aorta, Supernumerary t... OMIM:617088
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus OMIM:230600
Feingold Syndrome
Patent ductus arteriosus ORPHA:1305
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Patent ductus arteriosus, Pulmonic stenosis OMIM:620185
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal heart morphology, Patent ductus arteriosus, Restrictive cardiomyopathy, Atrial septal de... ORPHA:369837
Hardikar Syndrome
Patent foramen ovale, Ventricular septal defect, Pulmonary artery stenosis, Coarctation of aorta,... OMIM:301068
Orofaciodigital Syndrome Type 14
Microretrognathia, Open operculum, Hypoplasia of the corpus callosum, Ventricular septal defect, ... ORPHA:434179
Hereditary Orotic Aciduria
Patent ductus arteriosus ORPHA:30
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:618268
Ramos-Arroyo Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:1051
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... ORPHA:17
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Sacral lipoma, Dermal sinus tract OMIM:600145
Opitz Gbbb Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Ventricular septal defect OMIM:300000
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Tetralogy of Fallot, Micrognathia, Abnormal pulmonary valve morph... ORPHA:1507
Hajdu-Cheney Syndrome
Aortic valve stenosis, Short distal phalanx of finger, Short toe, Abnormal mandible morphology, H... ORPHA:955
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Patent foramen ovale ORPHA:457395
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Aortic aneu... ORPHA:60030
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464311
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Hypoplasia of the maxilla, Retrognathia, Cavum septum pellucidum, Bive... OMIM:616462
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Retrognathia, Patent foramen ovale, Ventricular septal defect, Atrial septa... OMIM:615582
Poems Syndrome
Pericardial effusion, Acrocyanosis, Plethora ORPHA:2905
Noonan Syndrome
Bruising susceptibility, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Pulmon... ORPHA:648
9Q33.3Q34.11 Microdeletion Syndrome
Telangiectasia, Patent ductus arteriosus ORPHA:495818
Trichorhinophalangeal Syndrome, Type Ii
Multiple long-bone exostoses, Rib exostoses, Bilateral cryptorchidism, Thick eyebrow, Alopecia of... OMIM:150230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Right ventricular hypertrophy, Patent... ORPHA:280633
Prader-Willi Syndrome Due To Translocation
Abnormal heart morphology, Patent ductus arteriosus, Patent foramen ovale ORPHA:177907
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Abnormal pul... ORPHA:567
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Cyanosis, Concentric hypertrophic cardiomyopathy OMIM:252010
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Microcephaly, Ventricular septal defect OMIM:178110
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:609192
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:146510
Desmosterolosis
Total anomalous pulmonary venous return, Patent ductus arteriosus OMIM:602398
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Aortic dissection, Medial calcification of large arteries, Arterial calc... ORPHA:51608
Femoral-Facial Syndrome
Short fifth metatarsal, Absent vertebra, 11 pairs of ribs, Micrognathia, Short humerus, Truncus a... OMIM:134780
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Patent ductus arteriosus, Hypoxemia ORPHA:2282
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464306
Weaver Syndrome
Patent ductus arteriosus OMIM:277590
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular se... OMIM:619418
Hyperparathyroidism, Transient Neonatal
Stroke, Patent ductus arteriosus OMIM:618188
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I... ORPHA:48435
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth, Ventricular septal de... ORPHA:1071
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Patent ductus arteriosus, Bruising susceptibility OMIM:227646
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Ventricular septal defect OMIM:243150
Microphthalmia, Syndromic 1
Anophthalmia, Short clavicles, Bicuspid aortic valve, Microcephaly, Agenesis of maxillary lateral... OMIM:309800
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:1519
Fanconi Anemia
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic mor... ORPHA:84
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Coarctation of aorta, Partial agenesis of the corpus callosum, Thi... OMIM:619480
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Microretrognathia, Short finger, Dilatation of the ventricular cavity, Ventricular septal defect,... ORPHA:459070
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent foramen ovale, Ventricular septal defect, Left ventric... ORPHA:466791
Cornelia De Lange Syndrome 1
Finger aplasia, Micromelia, Delayed eruption of teeth, Micrognathia, Ventricular septal defect, M... OMIM:122470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Short ribs, Atrial septal defect, Pachyg... OMIM:263520
Cranioectodermal Dysplasia 2
Patent foramen ovale, Left ventricular hypertrophy, Ectodermal dysplasia, Atrial septal defect, P... OMIM:613610
Knobloch Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:1571
Fontaine Progeroid Syndrome
Premature skin wrinkling, Abnormal heart morphology, Reduced subcutaneous adipose tissue, Bicuspi... OMIM:612289
Fryns Syndrome
Short distal phalanx of finger, Microretrognathia, Hypoplasia of the optic tract, Short thumb, Hy... OMIM:229850
Mowat-Wilson Syndrome
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Delayed eru... OMIM:235730
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Patent ductus arteriosus, Atrial septal defect OMIM:213980
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Patent ductus arteriosus, Bruising susceptibility OMIM:614557
Zttk Syndrome
Small hand, Hypoplasia of the maxilla, Periventricular leukomalacia, Hypoplasia of the corpus cal... OMIM:617140
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Bilateral superior vena cava with no bridging vei... OMIM:618460
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Pulmonic stenosis, Patent ductus arteriosus, Patent foramen ovale OMIM:617137
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal... ORPHA:363700
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Carious teeth, Natal tooth, Dental malocclusion, Abnormal h... ORPHA:353281
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial... OMIM:607721
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventricular sep... OMIM:614866
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventricular se... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventricular se... ORPHA:352665
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... ORPHA:444077
Aymé-Gripp Syndrome
Pericardial effusion, Patent ductus arteriosus, Pericarditis ORPHA:1272
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Moyamoya phenomenon, Cutis marmorata, Calcification of the aorta, Ca... ORPHA:51
Myasthenia Gravis
Acrocyanosis ORPHA:589
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:620005
Pallister-Hall Syndrome
Abnormal corpus callosum morphology, Abnormal basal ganglia MRI signal intensity, Microretrognath... ORPHA:672
Noonan Syndrome 1
Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of a... OMIM:163950
Hyperoxaluria, Primary, Type I
Peripheral arterial stenosis, Cutis marmorata, Acrocyanosis OMIM:259900
Degcags Syndrome
Premature graying of hair, Patent foramen ovale, Ventricular septal defect, Persistent left super... OMIM:619488
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Short finger, Hypoplasia of the corpus callosum, Ventricular ... ORPHA:1934
Arboleda-Tham Syndrome
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Patent ductus art... OMIM:616268
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Retrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Microceph... OMIM:301044
Biliary, Renal, Neurologic, And Skeletal Syndrome
Common atrium, Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Pulmonary... OMIM:619534
Okamoto Syndrome
Aortic valve stenosis, Abnormally large globe, Abnormal heart morphology, Abnormal left ventricle... ORPHA:2729
Classical Ehlers-Danlos Syndrome
Arterial dissection, Poor wound healing, Bruising susceptibility, Aortic root aneurysm, Dilatatio... ORPHA:287
Rabson-Mendenhall Syndrome
Cardiomyopathy, Ventricular septal defect, Advanced eruption of teeth, Atrial septal defect, Mand... ORPHA:769
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:487796
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse OMIM:611962
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect OMIM:616682
Larsen Syndrome
Hypoplastic cervical vertebrae, Malar flattening, Ventricular septal defect, Aortic aneurysm, Atr... OMIM:150250
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Chromosome 16P13.3 Duplication Syndrome
Short toe, Short thumb, Tetralogy of Fallot, Micrognathia, Periventricular leukomalacia, Ventricu... OMIM:613458
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Aortic root aneurysm, Patent ductus arteriosus, Cardiomyopathy OMIM:135500
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Short toe, Cerebral atrophy, Agenesis of corpus ca... ORPHA:2308
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Absent hand, Aplasia/Hypoplasia of the ulna, Ventricular septal d... ORPHA:3138
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... OMIM:270400
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Microcephaly, Ventricular septal defect OMIM:259770
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus OMIM:616300
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale ORPHA:96149
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Dilated cardiomyopathy, Atrial septal defect, Atrioventricular canal d... OMIM:619573
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Patent foramen ovale OMIM:300990
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Hypoplasia of the corpus callosum, Ventricular septal defect, Agenesis of c... OMIM:607872
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus OMIM:619351
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... OMIM:194050
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Macrocephaly, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:619575
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Atrial septal defect OMIM:300868
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Cerebral cortical atrophy, Short 5th toe, Retrognathia, Hypoplasia of the ... ORPHA:268261
1P36 Deletion Syndrome
Dilated cardiomyopathy, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic arch aneurys... ORPHA:1606
Turnpenny-Fry Syndrome
Carotid artery tortuosity, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect,... OMIM:618371
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:438213
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Hypoplasia of the maxilla, Hypoplastic scapulae, Short 1st metac... ORPHA:96334
Dermatomyositis
Erythema, Vasculitis, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiect... ORPHA:221
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Abnormal corpus callosum morphology, Vascular ring, Carious teeth, Natal t... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Abnormal corpus callosum morphology, Vascular ring, Carious teeth, Natal t... ORPHA:353277
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Macrocephaly, Mitral valve prolapse, Ventricular septal defect OMIM:617107
Vater/Vacterl Association
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s... OMIM:192350
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect, Cardiomega... OMIM:619991
Ctcf-Related Neurodevelopmental Disorder
Prolonged neonatal jaundice, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect ORPHA:363611
Alagille Syndrome 1
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal ... OMIM:118450
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis, Cardiomyopathy ORPHA:416
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Micrognathia, Malar flattening, Ventricular septal defect, Bicuspid aortic valv... OMIM:271640
Familial Dysautonomia
Acrocyanosis ORPHA:1764
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Patent ductus arteriosus OMIM:617248
17Q24.2 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Renal Agenesis
Ventricular septal defect ORPHA:411709
Limb Body Wall Complex
Abnormal heart morphology, Aplasia of the proximal phalanges of the hand, Aplasia/hypoplasia invo... ORPHA:2369
Meckel Syndrome, Type 1
Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus, Abnormal cardiac septum morp... OMIM:249000
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:85276
Restrictive Dermopathy
Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Aplasia/Hypoplasia of the clavicles... ORPHA:1662
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventricular septal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventricular septal ... ORPHA:363958
Wolf-Hirschhorn Syndrome
Craniofacial asymmetry, Short thumb, Periventricular cysts, Rieger anomaly, Micrognathia, Absent ... OMIM:194190
Simpson-Golabi-Behmel Syndrome
Short toe, Cardiomyopathy, Agenesis of corpus callosum, Ventricular septal defect, Atrial septal ... ORPHA:373
Costello Syndrome
Cerebral atrophy, Hypertrophic cardiomyopathy, Micrognathia, Mitral valve prolapse, Ventricular s... OMIM:218040
Coffin-Siris Syndrome 1
Retrognathia, Delayed eruption of teeth, Tetralogy of Fallot, Short distal phalanx of the 5th toe... OMIM:135900
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus OMIM:619934
Diets-Jongmans Syndrome
Thick corpus callosum, Interrupted inferior vena cava with azygous continuation, Ventricular sept... OMIM:618846
Roberts-Sc Phocomelia Syndrome
Finger aplasia, Absent thumb, Hyperplasia of the maxilla, Absent radius, Micrognathia, Malar flat... OMIM:268300
Yunis-Varon Syndrome
Hypoplastic scapulae, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... OMIM:216340
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus OMIM:613355
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Macrocephaly, Mitral valve prolapse, Ventricular septal defe... ORPHA:500095
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Rhizomelia, Short distal phalanx of finger, Delay... OMIM:143095
Treacher-Collins Syndrome
Patent ductus arteriosus ORPHA:861
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Micr... OMIM:188400
Genitopatellar Syndrome
Delayed eruption of teeth, Micrognathia, Patellar aplasia, Agenesis of corpus callosum, Ventricul... OMIM:606170
Peters-Plus Syndrome
Rhizomelia, Hypoplasia of the maxilla, Short toe, Cerebral atrophy, Micrognathia, Agenesis of cor... OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Total anomalous pulmonary venous return, Short distal phalanx of fi... OMIM:312870
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... OMIM:614976
Knobloch Syndrome 2
Patent ductus arteriosus OMIM:618458
Craniotubular Dysplasia, Ikegawa Type
Macrocephaly, Short palm, Ventricular septal defect OMIM:619727
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Cerebellar vermis hypoplasia, Malar flattening, Ventricular septal defect, Microcephaly, Macrocep... OMIM:620330
Restrictive Dermopathy 1
Atrial septal defect, Prominent superficial blood vessels, Patent ductus arteriosus OMIM:275210
Peters Plus Syndrome
Hypoplastic left heart, Abnormal pulmonary vein morphology, Abnormal cardiac septum morphology, P... ORPHA:709
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:619841
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Micrognathia, Supernumerary tooth, Ventricular septal defect OMIM:619525
Kabuki Syndrome 1
Short 5th finger, Micrognathia, Ventricular septal defect, Microcephaly, Coarctation of aorta, At... OMIM:147920
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Secundum atrial septal defect, Patent ductus arteriosus OMIM:620455
Cornelia De Lange Syndrome
Cerebral cortical atrophy, Small hand, Short 1st metacarpal, Micromelia, Delayed eruption of teet... ORPHA:199
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus ORPHA:1112
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hypoplastic anterior commissure, Secondary microcephaly, Hypoplasia of the... ORPHA:261552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Carious teeth, Short thumb, Short finger, Ventricular septal defect, Microcepha... OMIM:619522
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal heart morphology, Transient ischemic attack, Ischemic stroke, Abnormal common carotid ar... ORPHA:500150
Knobloch Syndrome 1
Patent ductus arteriosus OMIM:267750
Sotos Syndrome
Abnormal heart morphology, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Prol... ORPHA:821
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Mitral valve prolapse, Venous... ORPHA:285
Townes-Brocks Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal cardiac ... ORPHA:857
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Atrial septal defect, Cardiomyopathy ORPHA:480880
Cohen-Gibson Syndrome
Patent ductus arteriosus OMIM:617561
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Townes-Brocks Syndrome 1
Tetralogy of Fallot, Aplasia/Hypoplasia of the 3rd toe, Ventricular septal defect, Microcephaly, ... OMIM:107480
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus ORPHA:2363
Pallister-Killian Syndrome
Aortic valve stenosis, Rhizomelia, Small hand, Short toe, Delayed eruption of teeth, Hypertrophic... OMIM:601803
Mowat-Wilson Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Pulmonary artery sling, Bi... ORPHA:2152
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Goodpasture Syndrome
Cyanosis OMIM:233450
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Hypoplasia of the primary teeth, Situs inversus totalis, Ventricular sept... OMIM:243800
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49

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 Smarca4

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 Smarca4.

No publications found that use IMPC mice or data for Smarca4.

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
Smarca4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Smarca4tm296768(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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