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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

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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
Rhabdoid tumor of the kidney, Atypical teratoid/rhabdoid tumor OMIM:613325
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Microcephaly, Patent ductus arteriosus, Short phalanx ... OMIM:614609
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Sim... 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
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Exostoses, Multiple, Type Iii
Multiple exostoses OMIM:600209
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Exostoses Of Heel
Exostoses OMIM:133600
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
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
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Micrognathia, Hypoplastic left atrium, Microphthalmia, R... OMIM:615524
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Mmep Syndrome
Mandibular prognathia, Microphthalmia, Ventricular septal defect, Microcephaly ORPHA:3434
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Oslam Syndrome
Osteosarcoma ORPHA:2760
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Atrioventricular canal defect,... OMIM:619142
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus 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
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... OMIM:601322
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata OMIM:615297
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Microcephaly, Complete atrioventr... OMIM:619343
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Secondary microce... OMIM:614326
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Ventricular septal defect, Microcephaly ORPHA:391646
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... OMIM:614249
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Microcephaly, Complete atrioventricula... OMIM:264480
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sonoda Syndrome
Ventricular septal defect OMIM:270460
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Phenobarbital Embryopathy
Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphol... ORPHA:1919
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Cerebral atrophy, Secondary mi... OMIM:179613
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle, Hypoplastic... OMIM:220210
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Familial Aortic Dissection
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Desc... ORPHA:229
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Bilateral supe... OMIM:605376
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect, Partial absence ... ORPHA:476126
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Microcephaly ORPHA:3469
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Meckel Syndrome, Type 8
Pericardial effusion, Microphthalmia, Anophthalmia, Microcephaly OMIM:613885
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microphthalm... ORPHA:77298
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia OMIM:615731
Breath-Holding Spells
Cyanosis OMIM:607578
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Microcephaly, Hydranencephaly, Truncus arteriosus, Short distal phalan... OMIM:601355
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:99811
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Down Syndrome
Ventricular septal defect, Short middle phalanx of the 5th finger, Complete atrioventricular cana... OMIM:190685
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Rhizomelic Syndrome
Microcephaly, Rhizomelia, Pulmonic stenosis, Micrognathia OMIM:268250
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy ORPHA:306550
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bilateral microp... OMIM:601186
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus callosum, Dan... OMIM:164180
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly ORPHA:2515
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
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
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... ORPHA:99050
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Microcephaly, Micrognathia, Abnormal aortic morphology, Tetralogy of F... ORPHA:1166
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid tumor of the kidney, Atypical teratoid/rhabdoid tumor OMIM:613325
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect, Microcephaly ORPHA:357225
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... ORPHA:363444
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Perching Syndrome
Cyanosis OMIM:617055
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Micrognathia, Complete atrioventricular canal defect, Short tibia, Fibular hypoplasi... OMIM:617925
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Transposition of the great arteries, Atria... ORPHA:1913
Catel-Manzke Syndrome
Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia ORPHA:1388
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Trisomy 1Q
Microretrognathia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Cerebellar ... ORPHA:261344
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Microcephaly, Abnormal heart morphology, Coarctation of ... ORPHA:2209
Hamamy Syndrome
Micrognathia, Complete atrioventricular canal defect, Dental malocclusion, Atrial septal defect, ... OMIM:611174
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Hydrolethalus
Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Anencephaly, Microphthalmia, Re... ORPHA:2189
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Werner Syndrome
Alopecia of scalp, Meningioma, Osteosarcoma OMIM:277700
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Abnormal cardiac septum morphology, Macrocephaly, Poly... ORPHA:83473
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Trisomy 13
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris... ORPHA:3378
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Patent ductus arteriosus OMIM:619519
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Hemihyperplasia, Isolated
Myelomeningocele, Nephroblastoma, Embryonal neoplasm OMIM:235000
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent du... OMIM:270100
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Cerebellar hypoplasia, Secondary microcephaly OMIM:613730
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Pentasomy X
Microcephaly, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Abnormal cardiac se... ORPHA:11
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Macrocephaly, Atrial... OMIM:618316
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... ORPHA:1329
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Microcephaly, Cerebellar hypoplasia, Hypoplas... OMIM:612946
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Abnormal aortic morphology, Truncus arteri... ORPHA:2516
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:1926
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum ORPHA:217
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte... OMIM:612561
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
8Q24.3 Microdeletion Syndrome
Micromelia, Atrioventricular canal defect, Dysplastic aortic valve, Microretrognathia, Short hall... ORPHA:508488
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Osteosarcoma OMIM:620072
Hydrolethalus Syndrome 1
Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Co... OMIM:236680
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Microcephaly, Patent ductus art... OMIM:618142
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Micrognathia, Shorte... OMIM:619135
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot, Microcephaly ORPHA:276422
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Secondary microcephaly, Atrial... OMIM:618652
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Microcephaly, Hypoplasia of the corpus callosum, Atrial septal defect, M... OMIM:300887
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Malar flattening, Microcephaly, Micrognathia ORPHA:93946
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Macrocephaly, Cerebellar hypopla... OMIM:301056
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Microcephaly, Patent ductus arteriosus, Cerebral atrophy, Atrial se... OMIM:614886
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Leopard Syndrome 1
Mandibular prognathia, Missing ribs, Complete atrioventricular canal defect, Mitral valve prolaps... OMIM:151100
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... ORPHA:221008
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
15Q11.2 Microdeletion Syndrome
Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarct... ORPHA:261183
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Microcephaly, Short distal phalanx of fin... ORPHA:2513
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Sparse or ab... ORPHA:221016
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Missing rib... OMIM:206900
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... ORPHA:94066
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Meier-Gorlin Syndrome 7
Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventricular canal def... OMIM:617063
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Ventricular septal defect, Microcephaly OMIM:618506
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Ventricular septal defect, Microcephaly, Micrognathia, Macrocephaly ORPHA:398156
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Congenital Heart Block
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... ORPHA:60041
Fibrous Dysplasia Of Bone
Testicular neoplasm, Elevated circulating growth hormone concentration, Cutaneous myxoma, Ovarian... ORPHA:249
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Microcephaly, Carious teeth, Micrognathia, Patent ductus arteriosus, D... OMIM:613680
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Microceph... OMIM:301043
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Microcephaly OMIM:245552
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Microcephaly, Micrognathia, Patent ductus arteriosus, Pachygyria, Agen... ORPHA:452
Holt-Oram Syndrome
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... ORPHA:392
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Hypoxemia, Atrial sep... ORPHA:2847
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch... OMIM:617478
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Anencephaly, Hypoplasia o... OMIM:611134
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Walker-Warburg Syndrome
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Lis... ORPHA:899
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect, Micrognathia, Microphthalmia, Agenesis of corpus callosum ORPHA:93267
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Megalencephaly, Progressive macrocephaly, Microphthalmia, Cavum septum... OMIM:602501
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... ORPHA:1908
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcephaly, Microphthalmia, Inferior cerebellar vermis hypoplasia, Agenesis of co... ORPHA:139471
Congenital Tricuspid Valve Dysplasia
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... ORPHA:555874
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... ORPHA:244
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
8P23.1 Microdeletion Syndrome
Micrognathia, Microcephaly, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic car... ORPHA:251071
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, B-cell lymphoma, Burkitt lymphoma OMIM:620232
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta OMIM:182940
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Abnormally large globe, Megalencephaly, Thick corpus callosum, Vascula... OMIM:603387
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Ventricular septal defect ORPHA:1296
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Micromelia, Microcephaly, Hypoplastic left heart, Aplasia/Hypoplasia o... ORPHA:2772
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Pulmonic ste... OMIM:619123
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hypoplasia of the primary... ORPHA:90322
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Hypoplasia of the corpus callosum OMIM:616816
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Palmoplantar cutis laxa, ... OMIM:615355
Delpire-Mcneill Syndrome
Agenesis of corpus callosum, Cortical dysplasia, Ventricular septal defect OMIM:619083
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... OMIM:241310
Microphthalmia With Limb Anomalies
Anophthalmia, Hand oligodactyly, Fibular hypoplasia, Interrupted inferior vena cava with azygous ... OMIM:206920
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect, Microcephaly OMIM:617364
Congenital Rubella Syndrome
Atrial septal defect, Jaundice, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Right aortic arch, Hypoplasia of the corpus callosum, Hy... OMIM:617616
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septa... OMIM:619909
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Hypoplastic left heart, Transposition of t... ORPHA:1727
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrocephaly, Ventricular septal defect, Abnormally large globe OMIM:618504
Renal Tubular Dysgenesis
Tetralogy of Fallot, Microcephaly ORPHA:3033
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... OMIM:620067
Char Syndrome
Patent ductus arteriosus OMIM:169100
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Short thumb, Patent ductus arteriosus, Anomalous pulmonary venous return, ... ORPHA:1120
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Patent ductus arteriosus, Abnorma... ORPHA:500159
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Aplasia/Hypoplasia of the cerebellum... ORPHA:7
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Chromosome 3Pter-P25 Deletion Syndrome
Microcephaly, Micrognathia, Macular hypoplasia, Atrioventricular canal defect, Retrognathia OMIM:613792
Joubert Syndrome 15
Exencephaly OMIM:614464
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Microcephaly OMIM:147250
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Atypical Werner Syndrome
Abnormal hair quantity, Renal neoplasm, Alopecia, Abnormal hair morphology, Abnormal hair whorl, ... ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Micrognathia OMIM:243440
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Weill-Marchesani Syndrome
Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Kapur-Toriello Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Tetralogy of Fal... ORPHA:2328
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Frank-Ter Haar Syndrome
Ventricular septal defect, Abnormally large globe, Secundum atrial septal defect, Micrognathia, D... OMIM:249420
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abnormal cortical gyration, Short thum... ORPHA:2538
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Chronic sinusitis, Partial atrioventricular ... OMIM:619608
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Ventricular septal defect, Dextrocardia, Persistence of ... OMIM:300166
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Thin corpus callosum OMIM:616277
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Holoprosencephaly 14
Ventricular septal defect, Absent septum pellucidum, Microcephaly, Partial agenesis of the corpus... OMIM:619895
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Short hallux OMIM:620393
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Cerebral calcification, Ventricular septal ... ORPHA:1782
Diamond-Blackfan Anemia
Acute myeloid leukemia, Myelodysplasia, Low anterior hairline, Adenocarcinoma of the colon, Malig... ORPHA:124
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cutis marmorata, Transient ischemic attack, Cardiomegaly, Subarachnoid hem... ORPHA:91387
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Short thumb, Abnormal heart morphology, Atrial septal defect, Truncus ... ORPHA:401935
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent ductus arteriosus, Patent f... ORPHA:79324
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale OMIM:616867
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Secondary microcephaly ORPHA:3369
Verheij Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Cerebral atrophy, Short 5th fing... OMIM:615583
Absence Of The Pulmonary Artery
Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal h... ORPHA:980
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim... ORPHA:508498
Fibular Hemimelia
Anophthalmia, Short femur, Short toe, Fibular hypoplasia, Abnormal heart morphology, Proximal fem... ORPHA:93323
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:608779
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of t... OMIM:234050
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... ORPHA:2256
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Amelia OMIM:618021
Fetal Encasement Syndrome
Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth OMIM:613630
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Talon c... ORPHA:2409
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cortical dysplasia, Porencephali... OMIM:613001
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:607598
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hypoplasia of the maxilla, Simplified gyral pattern, Cerebral atrophy,... OMIM:614261
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... ORPHA:141099
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Hy... OMIM:618325
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Filippi Syndrome
Microcephaly, Ventricular septal defect, Serrated incisors OMIM:272440
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Atrioventricular canal defect, Aplasia/Hypoplasia affecting the ... ORPHA:2549
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Microcephaly, Patent ductus arteriosus, Cerebellar hypoplasia, Tricuspid valve... ORPHA:276413
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta OMIM:616145
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microc... OMIM:609053
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Short foot ORPHA:228399
Joubert Syndrome 18
Agenesis of cerebellar vermis, Agenesis of corpus callosum, Retrognathia, Ventricular septal defect OMIM:614815
X-Linked Intellectual Disability, Nascimento Type
Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Hypoplasia of the pons,... ORPHA:163956
Microcephaly 13, Primary, Autosomal Recessive
Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Small hand, Simplified gyral... OMIM:616051
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morph... ORPHA:2257
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:2863
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Holoprosencephaly
Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Microcephaly, Aplas... ORPHA:2162
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Tricuspid valve prolapse, Aniridia ORPHA:1101
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... ORPHA:1352
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus arteriosus, Tru... OMIM:617516
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Pat... OMIM:617751
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Tetralogy of Fallot ORPHA:1381
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Absent septum pellucidum, Foot oligodactyly, Amelia OMIM:601357
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Cerebral atrophy, Hypoplas... OMIM:616920
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Microcephaly, Abnormal cardiac ventricle morphology, Patent ... ORPHA:2306
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atroph... ORPHA:79243
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus, Hypoplastic left heart OMIM:617661
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus ORPHA:1516
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Left superior vena cava draining to coronary sinus, Limb undergrowth, Comm... OMIM:619143
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Dandy-Walker ... OMIM:616901
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Microcephaly ORPHA:1667
Noonan Syndrome 2
Relative macrocephaly, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defec... OMIM:605275
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus OMIM:610498
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Microcephaly, Retrognathia, Micrognathia ORPHA:2521
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:615668
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Absent septum pellucidum, Micrognathia, Microcep... ORPHA:2556
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Macrocephaly, ... OMIM:619769
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Cerebral arteriovenous malforma... OMIM:610655
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Myelodysplasia, Osteosarcoma OMIM:105650
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... OMIM:606003
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus, Hypoplasia of the corpus callosum, Malar fla... OMIM:218350
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Ventricular septal defect, Micrognathia, Microcephaly, Small hand, Short foot, Sh... OMIM:270450
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Cerebral white matter atrophy, Ventricular septal defect, Micrognathia, Co... ORPHA:435638
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Ventricular septal defect, Cerebral atrophy, Abnormal heart morphol... OMIM:618494
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Absent radius, Transposition of the great arteries, Atrioventricular... OMIM:314390
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Ventricular septal defect, Thin corpus callosum OMIM:619908
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Abnormal cortical gyration, H... OMIM:610829
6P22 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:251046
Meckel Syndrome
Anophthalmia, Micrognathia, Situs inversus totalis, Microcephaly, Anencephaly, Aplasia/Hypoplasia... ORPHA:564
Distal Deletion 17Q
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:1597
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Lissencephaly, Secondary microcephaly, Hyper... OMIM:612938
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly OMIM:609654
Periventricular Nodular Heterotopia 7
Microretrognathia, Ventricular septal defect, Micrognathia, Cortical dysplasia, Hypoplasia of the... OMIM:617201
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Microcephaly, Small hand, Enamel hypoplasia, Ag... OMIM:619980
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Asbestos Intoxication
Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion ORPHA:2302
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Hypoplasia of the corpus callosum, Coarctation of aorta OMIM:620210
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Micrognathia, Double outlet right ventricle with doubly co... ORPHA:1596
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... ORPHA:90308
Lethal Faciocardiomelic Dysplasia
Patent ductus arteriosus, Hypoplastic left heart ORPHA:1972
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Micrognathia, Hypoplasia of the radius, Microphthalmia, Retr... ORPHA:3412
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Short ribs, Hypoplasia of the ... ORPHA:2519
Kabuki Syndrome 2
Natal tooth, Micrognathia, Microcephaly, Dental malocclusion, Coarctation of aorta, Short 5th fin... OMIM:300867
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Emanuel Syndrome
Broad jaw, Ventricular septal defect, Truncus arteriosus, Delayed eruption of primary teeth, Micr... OMIM:609029
Analbuminemia
Patent ductus arteriosus OMIM:616000
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Cockayne Syndrome Type 1
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Basal ganglia calcificati... ORPHA:90321
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly OMIM:616589
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... ORPHA:95430
Seckel Syndrome 9
Ventricular septal defect, Microcephaly, Micrognathia, Simplified gyral pattern, Pulmonary artery... OMIM:616777
Prune Belly Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Micrognathia, Short foot, Agenesis of corpus callosum, Short p... ORPHA:264200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Microcephaly, Micrognathia, Cerebellar hypoplasia, Dandy-Walker malfor... ORPHA:3078
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect, Microcephaly OMIM:610832
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... OMIM:113000
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Cerebral atrophy, Microcephaly OMIM:617635
Charge Syndrome
Anophthalmia, Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect... OMIM:214800
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly ORPHA:261190
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect, Microcephaly OMIM:613398
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Micrognathia, Cari... ORPHA:96097
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect OMIM:249270
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Stroke OMIM:615812
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macrocephaly, Retrognathia, Agenesis of corp... ORPHA:52055
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Short di... OMIM:620073
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia, Macrocephaly OMIM:615877
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, Atrial septal defect, Macr... OMIM:618067
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Cat Eye Syndrome
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef... OMIM:115470
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Microcephaly, Micrognathia, Atrial septal defect, Malar flattening, Pr... OMIM:610536
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Mandibular prognathia, Micrognathia OMIM:608572
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Abnormal heart morphology,... ORPHA:494344
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus OMIM:619797
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... OMIM:612582
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,... OMIM:180849
Atelis Syndrome 1
Atrial septal defect, Carious teeth, Ventricular septal defect OMIM:620184
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1842
Charge Syndrome
Delayed eruption of teeth, Aortic arch aneurysm, Anophthalmia, Microcephaly, Patent ductus arteri... ORPHA:138
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Microcephaly, Short toe OMIM:616651
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Ventricular septal defect, Absent septum pellucidum, Micromelia, Patent ductus... OMIM:618870
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Microcephaly ORPHA:3306
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Age... OMIM:620113
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Telangiectasia, Hypoxemia, Pulmonary arteriovenous fistulas,... ORPHA:2038
Giant Cell Arteritis
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... ORPHA:397
3Q29 Microduplication Syndrome
Ventricular septal defect, Microcephaly, Biparietal narrowing, Macrocephaly, Aniridia, Microphtha... ORPHA:251038
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Hypoplasia of the pyramidal tract, Dilated cardiomyopathy, Myocardial fibrosis, Hypoplasi... OMIM:253800
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia OMIM:616037
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Microcephaly, Atrial septal defect, Patent foramen ... OMIM:618950
Williams Syndrome
Abnormal endocardium morphology, Aortic arch aneurysm, Overriding aorta, Bicuspid aortic valve, V... ORPHA:904
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus ORPHA:2123
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Atr... OMIM:616449
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Abnormal cortical gyration, Microcephaly, Patent ductus arteriosus, Ce... OMIM:614576
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Patent ductus arteriosus, Petechiae, Cerebral hemorrhage OMIM:617397
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Lens coloboma, Abnorma... ORPHA:42775
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the corpus call... OMIM:605627
Char Syndrome
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... ORPHA:46627
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Micrognathia, Cardiomegaly, Microcephaly, Short ribs, Cer... OMIM:616897
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Hypo... OMIM:618619
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Macrocephaly, Atrioventricular canal defect, Agenesis of corp... OMIM:618929
Galloway-Mowat Syndrome 7
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:618348
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus ORPHA:2547
Aase-Smith Syndrome I
Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:614857
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus ORPHA:2655
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Macrocephaly, Short 3rd metacarpal, Short 4th ... OMIM:169400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus, Telangiectasia OMIM:608799
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar vermis, Intracran... OMIM:614424
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ventricular septal defect, Reduced cerebral white matter volume, Pulmo... OMIM:280000
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus ORPHA:93274
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Jaundice, Patent foramen ovale, Petechiae OMIM:251290
Beck-Fahrner Syndrome
Ventricular septal defect, Microcephaly, Cardiomegaly, Macrocephaly, Periventricular leukomalacia OMIM:618798
Kagami-Ogata Syndrome
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Lim... OMIM:608149
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Microcephaly, Lissencephaly, Atrial septal defect, Paten... OMIM:208085
Cerebellofaciodental Syndrome
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Dental malocclusion, Shortening ... OMIM:616202
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... ORPHA:99104
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa... OMIM:210710
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Sec... OMIM:614961
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Microphthalmia... OMIM:153400
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Short clavicles, Short... OMIM:617159
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Atrioventricul... OMIM:265380
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pachygyria, Cortical dysplasia, P... OMIM:100300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Atrial sept... ORPHA:457193
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Holt-Oram Syndrome
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... OMIM:142900
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Bilater... OMIM:300514
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Microcephaly, Hypoplasia of the corpus callosum, Atrial septal defect,... OMIM:617452
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary artery stenosis... ORPHA:75389
Jansen-De Vries Syndrome
Short foot, Ventricular septal defect, Bicuspid aortic valve, Small hand OMIM:617450
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl... ORPHA:141127
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:616730
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... OMIM:619503
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Cutis marmorata OMIM:609757
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis ORPHA:896
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Ventricular septal defect, Truncus arteriosus, Micrognathia... ORPHA:96170
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory... ORPHA:2250
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Microcephaly, Micrognathia, Retrognathia OMIM:617164
Donnai-Barrow Syndrome
Macrocephaly, Ventricular septal defect, Aplasia/Hypoplasia of the corpus callosum ORPHA:2143
Carpenter Syndrome 1
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... OMIM:201000
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Cerebral atrophy, Short 5th fi... OMIM:220500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs OMIM:617895
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Recurrent sinusitis, Short distal phalanx o... ORPHA:85202
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus ORPHA:171839
Woods Syndrome
Ventricular septal defect OMIM:615236
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... OMIM:612562
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Atrial septal... ORPHA:505237
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale OMIM:616866
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Encephalomalacia, Macrocephaly, Atrial septal ... OMIM:615879
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus OMIM:618961
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia... OMIM:600373
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic ... OMIM:619103
Ssr4-Cdg
Patent ductus arteriosus ORPHA:370927
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Microcephaly, Conotruncal defect, Coarctation of aorta, Subcortical cer... ORPHA:96147
Kapur-Toriello Syndrome
Ventricular septal defect, Short thumb, Patent ductus arteriosus, Atrial septal defect, Microphth... OMIM:244300
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery hypo... OMIM:300963
Velocardiofacial Syndrome
Ventricular septal defect, Microcephaly, Retrognathia, Interrupted aortic arch, Pulmonary artery ... OMIM:192430
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
19P13.3 Microduplication Syndrome
Microcephaly, Ventricular septal defect, Cerebral atrophy, Micrognathia ORPHA:447980
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Anophthalmia, Microcephaly ORPHA:2526
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Micrognathia, Hypoplasia of the pons, Microcephaly, Dental malocclusio... ORPHA:444072
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morpho... ORPHA:369891
Desbuquois Syndrome
Ventricular septal defect, Small hand ORPHA:1425
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Pulmonic sten... OMIM:615102
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Microcephaly, Micrognathia, Patent ductus arteriosus, Atrial septal de... OMIM:617061
Craniofacioskeletal Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Hypoplastic fron... OMIM:300712
Aicardi-Goutieres Syndrome 1
Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Ascending tubular aorta aneur... OMIM:309520
Donnai-Barrow Syndrome
Ventricular septal defect, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cor... OMIM:222448
Teebi Hypertelorism Syndrome 1
Natal tooth, Ventricular septal defect, Micrognathia, Small hand, Aortic root aneurysm, Atrial se... OMIM:145420
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Micrognathia, Micromeli... ORPHA:99776
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Aplasia/Hypoplasia of ... OMIM:219000
Tangier Disease
Left ventricular hypertrophy, Accelerated atherosclerosis, Coronary artery stenosis, Carotid arte... ORPHA:31150
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Foam cells, Cyanosis ORPHA:747
Meckel Syndrome, Type 7
Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri... OMIM:267010
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Craniofacial Microsomia 1
Anophthalmia, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus a... OMIM:164210
Acute Interstitial Pneumonia
Pericardial effusion, Cyanosis, Hypoxemia ORPHA:79126
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Abnormal pulmonary vein morphology, Cyanosis, Hypoxemia ORPHA:199241
Odontochondrodysplasia
Patent ductus arteriosus ORPHA:166272
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Atrial septal defect, Cavum septum pellucidum, Atriov... OMIM:274000
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Toriello-Carey Syndrome
Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Ce... ORPHA:3338
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Thanatophoric Dysplasia Type 1
Atrial septal defect, Excessive wrinkled skin, Patent ductus arteriosus ORPHA:1860
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Coarctation of aorta, Short palm, Microphthalmia, Agenes... ORPHA:268249
Congenital-Onset Steinert Myotonic Dystrophy
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:589821
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Abnormal heart morphology ORPHA:1867
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus, Macrocephaly, Retrognathia, Agenesis of corp... OMIM:300472
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Patent ductus arteriosus OMIM:618659
Joubert Syndrome 21
Anophthalmia, Hypoplasia of the brainstem, Short ribs, Hypoplasia of the corpus callosum, Chronic... OMIM:615636
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Micrognathia, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Optic disc hypoplasia, Ventricular septal defect, Hypoplasia of the... OMIM:619306
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Short ribs OMIM:615630
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... OMIM:601808
Phaver Syndrome
Ventricular septal defect, Short thumb, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary ... ORPHA:2876
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral ar... OMIM:620025
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Microcephaly, Ventricular septal defect, Lissencephaly, Right ventricular hypertrophy OMIM:613404
Cooper-Jabs Syndrome
Malar flattening, Ventricular septal defect, Missing ribs ORPHA:1488
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Aplasia/Hypoplasia of th... ORPHA:1335
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Abnormal pericardium morphology, Transient ischemic attack, Myocarditis, Vasculi... ORPHA:183
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Microretrognathia, Mandibular prognathia, Dilation of Virchow-Robin spaces, Ventricular septal de... OMIM:300998
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valv... ORPHA:261494
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri... OMIM:619472
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Hypoplastic anterior limbs of the internal capsule, Microcephaly, Peri... OMIM:615673
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Abnormal dental enamel mo... ORPHA:1458
Distal Deletion 3P
Atrioventricular canal defect, Microcephaly, Micrognathia ORPHA:1620
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... ORPHA:2712
Dravet Syndrome
Cyanotic episode ORPHA:33069
Ogden Syndrome
Microretrognathia, Pulmonary artery stenosis, Ventricular septal defect, Cerebral atrophy ORPHA:276432
Chiari Malformation Type Ii
Cyanosis OMIM:207950
C Syndrome
Short metacarpal, Ventricular septal defect, Micromelia, Micrognathia, Microcephaly, Patent ductu... OMIM:211750
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Microcephaly, Conotruncal defec... OMIM:610253
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Shor... ORPHA:1106
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Atrial septal de... ORPHA:3047
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplasia of the maxil... ORPHA:79345
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces OMIM:617190
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... ORPHA:565612
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Ventricular septal defect, Micrognathia, Microcephaly, Coarctation of aorta, Subvalvu... OMIM:614114
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Focal Dermal Hypoplasia
Delayed eruption of teeth, Short metacarpal, Anophthalmia, Microcephaly, Short metatarsal, Dental... OMIM:305600
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Patent foramen ovale ORPHA:293939
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Ventricular septal defect, Microcephaly, Cerebral atrophy, Hypoplasia of t... ORPHA:464738
Mosaic Trisomy 1
Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Coarctation of aorta,... ORPHA:1692
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short metacarpal, Ventricular septal defect, Micrognathia, Abnormal vena cava morphology, Cerebra... ORPHA:166035
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... ORPHA:2331
Carpenter Syndrome
Patent ductus arteriosus ORPHA:65759
Weill-Marchesani Syndrome 1
Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Micr... OMIM:277600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus OMIM:619293
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Misalignment of the pulmonary veins OMIM:265120
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Mitral valve prolapse, Pulmonic ste... ORPHA:3071
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... OMIM:235510
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Noonan Syndrome 4
Ventricular septal defect, Dental malocclusion, Pulmonic stenosis, Macrocephaly, Atrial septal de... OMIM:610733
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Small h... OMIM:610759
Gm1 Gangliosidosis
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cardiomyopathy, C... ORPHA:354
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
19Q13.11 Microdeletion Syndrome
Retrognathia, Ventricular septal defect, Microcephaly ORPHA:217346
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Dilated cardiomyopathy, Bipariet... ORPHA:261250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Abnormal heart morphology, Ascend... ORPHA:453499
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, Retrognathia, Double inlet ... OMIM:619869
Bohring-Opitz Syndrome
Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Micrognathia, Microcephaly, Shor... OMIM:605039
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... OMIM:602782
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Prune Belly Syndrome
Patent ductus arteriosus OMIM:100100
Trisomy 17P
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart ORPHA:261290
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micrognathia, Absent thumb, Absent ra... OMIM:154400
Radio-Tartaglia Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Retrognathia, Agenesis of corpus callosum OMIM:619312
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Microphthalmia, Syndromic 6
Anophthalmia, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Short middle... OMIM:607932
De Barsy Syndrome
Ventricular septal defect, Progeroid facial appearance, Patent ductus arteriosus, Hypoplastic aor... ORPHA:2962
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Ververi-Brady Syndrome
Transposition of the great arteries, Microcephaly OMIM:617982
Cerebrocostomandibular Syndrome
Cerebral calcification, Ventricular septal defect, Micrognathia, Microcephaly, Porencephalic cyst... ORPHA:1393
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Hypoplasia ... ORPHA:254346
Filippi Syndrome
Ventricular septal defect, Microcephaly ORPHA:3255
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:363528
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis ORPHA:159
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Cohen Syndrome
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Mitral valve pr... ORPHA:193
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Ventricular septal defect, Micrognathia, Macrocephaly, Short distal phalanx of ... OMIM:250410
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... ORPHA:2637
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... ORPHA:99106
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Agenesis of corp... OMIM:613457
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Patent ductus arteriosus, Erythema, Flushing OMIM:259100
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Micr... OMIM:619268
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect, Cerebellar hypoplasia, Microcephaly OMIM:612530
Deafness-Craniofacial Syndrome
Patent ductus arteriosus ORPHA:3241
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... ORPHA:500
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Abnormal cerebral wh... ORPHA:457279
Zellweger Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Macrocephaly, Polymicrogyria ORPHA:912
Silver-Russell Syndrome 3
Patent ductus arteriosus OMIM:616489
Distal Triplication 15Q
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology ORPHA:314588
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Lateral Meningocele Syndrome
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm OMIM:130720
Jacobsen Syndrome
Ventricular septal defect, Micrognathia, Missing ribs, Microcephaly, Macular hypoplasia, Macrocep... OMIM:147791
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Carious teeth, Small hand, Sh... OMIM:619229
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Opitz Gbbb Syndrome
Natal tooth, Ventricular septal defect, Micrognathia, Aplasia/Hypoplasia of the cerebellar vermis... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Microcephaly, Thick corpus callosum, Macrocephaly, Hyperi... OMIM:617798
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Biparietal narrowing ORPHA:1770
Phelan-Mcdermid Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Dental malocclus... OMIM:606232
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Rhizomelia, Micrognathia, Microceph... ORPHA:818
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus ORPHA:1790
Choanal Atresia
Cyanosis ORPHA:137914
Chops Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries OMIM:313850
Czech Dysplasia
Osteochondroma OMIM:609162
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Cutis marmorata, Patent ductus arteriosus, Arterial stenosis, Arterio... ORPHA:1556
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Microcephaly, Hypoplasia of the maxilla, Small hand, Hypoplasia of the... OMIM:609460
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Short... ORPHA:2438
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Microcephaly, Small cerebral cortex, Hypoplasia of the corpus callosum... OMIM:617360
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... ORPHA:1708
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:397709
Orofaciodigital Syndrome Type 2
Natal tooth, Micrognathia, Adactyly, Talon cusp, Central retinal vessel vascular tortuosity, Hypo... ORPHA:2751
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus OMIM:615398
Meckel Syndrome 14
Cyanosis, Single ventricle OMIM:619879
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Microcephaly, Cerebellar hypoplasia, Macrocepha... OMIM:212066
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Patent foramen ovale OMIM:607143
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Microcephaly, Patent ductus arteriosus, Short phalanx ... OMIM:614609
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short ribs, Macrocephaly OMIM:615503
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Cardiomegaly ORPHA:349
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:261279
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Microgna... OMIM:615948
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Short foot, Short palm, Atrial septal defe... ORPHA:251014
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
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Carious teeth, Coarctation of aorta, Aortic root aneurysm, Atrial sept... OMIM:617602
Tetrasomy 5P
Cyanosis ORPHA:3309
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Micrognathia, Microcephaly, Aplasia of the distal phalanx of the 5th t... OMIM:608670
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Atrial septal defect, Peripheral... ORPHA:52
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus, Bruising susceptibility OMIM:618162
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Short humerus, Optic disc hypoplasia, Ventricular septal defect, Absent t... OMIM:607323
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
White-Sutton Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:616364
Eisenmenger Syndrome
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal he... ORPHA:97214
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:610168
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:617303
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Microcephaly, Small hand, Ventricular septal hypertrophy, Abnormal cer... OMIM:614947
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Denta... OMIM:616894
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Relative macrocephaly, Ventricular septal defect, Micrognathia, Microcephaly, Dental malocclusion... ORPHA:251028
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pancreatic lymphangiectasis, P... OMIM:235255
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Absent septum pellucidum, Micrognathia, Patent foramen ovale, Hypoplas... OMIM:613884
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Cyanosis ORPHA:2886
Distal Deletion 10Q
Atrial septal defect, Patent ductus arteriosus ORPHA:96148
Distal Deletion 19P
Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr... ORPHA:96129
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Ventricular septal defect, Prolonged neonatal jaundice OMIM:214100
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Micrognathia, Abnormally large globe, Pancreatic lymphangiectasis, Pul... ORPHA:1655
Orofaciodigital Syndrome V
Agenesis of corpus callosum, Tetralogy of Fallot, Ventricular septal defect, Microcephaly OMIM:174300
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Patent ductus arteriosus OMIM:618005
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia OMIM:227645
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductu... OMIM:618454
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Coronary artery stenosis, Abnormal coronary artery morpholo... ORPHA:66529
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... ORPHA:99103
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Retrognathia, Cerebral atroph... OMIM:301030
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Patent ductus arteriosus, Erythema, Abnorm... ORPHA:2092
D-Glyceric Aciduria
Patent ductus arteriosus OMIM:220120
Histiocytoid Cardiomyopathy
Stroke-like episode, Cyanosis, Ventricular septal defect, Cardiomegaly ORPHA:137675
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonic stenosis OMIM:619148
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductu... OMIM:608328
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Tetralogy of Fallot, Aplasia/H... ORPHA:3474
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Short toe, Patent ductus arteriosus... OMIM:269860
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:84064
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Micrognathia, Carious teeth, Microcephaly, Coarctation of aorta, Hypop... OMIM:244450
Robinow Syndrome
Ventricular septal defect, Micrognathia, Persistence of primary teeth, Missing ribs, Mesomelic ar... ORPHA:97360
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Hypoplasia of the pons, Mi... OMIM:616975
Cerebrocostomandibular Syndrome
11 pairs of ribs, 10 pairs of ribs, Short humerus, Ventricular septal defect, Micrognathia, Cario... OMIM:117650
Doors Syndrome
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Delayed erupt... ORPHA:79500
Trichothiodystrophy
Ventricular septal defect, Cerebral dysmyelination, Hypoplasia of mandible relative to maxilla, C... ORPHA:33364
Myhre Syndrome
Mandibular prognathia, Ventricular septal defect, Microcephaly, Pericardial effusion, Hypoplasia ... OMIM:139210
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae OMIM:617053
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Cyanosis, Coarctation of aorta ORPHA:1199
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, 11 pairs of ribs, Ventricular septal defect, Microcephaly, Macrocephaly, P... ORPHA:488632
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Relative macrocephaly, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, ... OMIM:300967
Tolchin-Le Caignec Syndrome
Osteochondroma, Thick eyebrow, Hirsutism, Cardiac rhabdomyoma OMIM:618971
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Macrocephaly, Atrial sep... ORPHA:26793
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Sim... ORPHA:1465
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h... OMIM:123700
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Malar flattening, Micrognathia ORPHA:2789
Mgat2-Cdg
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:79329
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus, Patent foramen ovale OMIM:618076
7Q31 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus after birth at term ORPHA:251061
Unilateral Polymicrogyria
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Microceph... OMIM:309500
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Micrognathia, Microcephaly, Short thumb, Short toe... OMIM:164280
16P13.11 Microdeletion Syndrome
Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, Microcephaly ORPHA:261236
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Aorti... ORPHA:96121
3Q29 Microdeletion Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec... OMIM:257920
Trisomy 18
Microretrognathia, Ventricular septal defect, Microcephaly, Anencephaly, Aplasia/Hypoplasia of th... ORPHA:3380
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Micrognathia, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta OMIM:614921
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Branchiooculofacial Syndrome
Anophthalmia, Agenesis of cerebellar vermis, Micrognathia, Microcephaly, Short thumb, Cleft of ch... OMIM:113620
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Patent ductus arteriosus, Abnormal aortic valve morphology ORPHA:86818
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus ORPHA:33001
Fraser Syndrome
Microphthalmia, Anophthalmia, Dental malocclusion, Microcephaly ORPHA:2052
Neu-Laxova Syndrome 1
Hydranencephaly, Ventricular septal defect, Micromelia, Micrognathia, Patent ductus arteriosus, A... OMIM:256520
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Microcephaly, Aortic aneurysm, Short palm, Atrial septal defect, Malar... ORPHA:261330
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Microp... ORPHA:306542
Teebi-Shaltout Syndrome
Microphthalmia, Aortic valve stenosis, Ventricular septal defect, Microcephaly OMIM:272950
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Mitral valve prolapse OMIM:104350
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Absent septum pellucidum, Micrognathia, Situs inversus t... ORPHA:2461
Keutel Syndrome
Sinusitis, Ventricular septal defect, Cerebral calcification, Short hallux, Short thumb, Shorteni... OMIM:245150
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Micrognathia, Partial agenesi... OMIM:300373
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Microcephaly, Broad skull, Patent ductus arteriosus, Intracranial hemo... ORPHA:163979
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Ventricular septal defect, Optic nerve hypoplasi... OMIM:602535
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus ORPHA:2095
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus OMIM:603467
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia OMIM:610978
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Microcephaly, Agenesis of corpus callosum, Abnormal cardiac septum mor... ORPHA:209905
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Increased axial length of the globe, Right... ORPHA:513456
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus OMIM:300968
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Omodysplasia 1
Short humerus, Rhizomelia, Ventricular septal defect, Micrognathia, Pulmonary artery stenosis, Fi... OMIM:258315
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation ... ORPHA:60025
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Rib exostoses, Scapular exostoses ORPHA:321
Mosaic Trisomy 20
Ventricular septal defect, Micrognathia, Dysplastic tricuspid valve, Abnormal mitral valve morpho... ORPHA:1724
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ... ORPHA:740
Lymphatic Malformation 13
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620244
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Combined Oxidative Phosphorylation Deficiency 3
Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c... OMIM:610505
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Hypertrophic cardiomyo... ORPHA:505248
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Upper limb undergrowth, Aortic root aneurysm, L... ORPHA:96201
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma OMIM:600145
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Patent ductus arteriosus, Coarctation of aorta, Short ribs, Short clavicles,... OMIM:617088
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Micrognathia, Cardiomegaly, Patent ductus arteriosus, Retrognathia ORPHA:96191
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arter... ORPHA:261337
Ivic Syndrome
Patent ductus arteriosus, Tetralogy of Fallot OMIM:147750
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Di... ORPHA:284984
Hardikar Syndrome
Ventricular septal defect, Jaundice, Partial anomalous pulmonary venous return, Patent ductus art... OMIM:301068
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Patent ductus arteriosus, Situs inversus totalis OMIM:208540
Alg9-Cdg
Microretrognathia, Ventricular septal defect, Rhizomelia, Micrognathia, Pericardial effusion, Cer... ORPHA:79328
Oculodentodigital Dysplasia
Mandibular prognathia, Cerebral calcification, Ventricular septal defect, Abnormal dental enamel ... ORPHA:2710
Ethylene Glycol Poisoning
Cyanosis, Renal tubular epithelial necrosis ORPHA:31826
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus OMIM:614080
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:369837
Feingold Syndrome
Patent ductus arteriosus ORPHA:1305
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus OMIM:230600
Juvenile Polyposis Of Infancy
Atrial septal defect, Patent ductus arteriosus, Subcutaneous lipoma, Abnormal heart morphology ORPHA:79076
Atelis Syndrome 2
Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Orofaciodigital Syndrome Type 14
Microretrognathia, Ventricular septal defect, Microcephaly, Supernumerary tooth, Partial agenesis... ORPHA:434179
Hereditary Orotic Aciduria
Patent ductus arteriosus ORPHA:30
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:618268
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip... ORPHA:280633
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis OMIM:610921
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:1051
Opitz Gbbb Syndrome
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly OMIM:300000
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Micrognathia, Supernumerary tooth... ORPHA:1507
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Bruising s... ORPHA:60030
Pallister-Hall Syndrome
Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the aorta OMIM:146510
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Patent foramen ovale ORPHA:457395
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Micrognathia, Absent frontal sinuses, Hypoplastic 5th... ORPHA:955
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... ORPHA:567
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Microcephaly OMIM:178110
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect ORPHA:464311
Loeys-Dietz Syndrome 5
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... OMIM:615582
9Q33.3Q34.11 Microdeletion Syndrome
Patent ductus arteriosus, Telangiectasia ORPHA:495818
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Sparse scalp hair, Bilateral cryptorchidism, Osteoma, Rib exostoses, Scapular exo... OMIM:150230
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology ORPHA:177907
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Medial calcification of large arteries, Transient ischemic att... ORPHA:51608
Desmosterolosis
Patent ductus arteriosus, Total anomalous pulmonary venous return OMIM:602398
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Cyanosis, Concentric hypertrophic cardiomyopathy OMIM:252010
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Coarctation of aorta, Atrioven... OMIM:619480
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Ventricular septal defect, Microcephaly, Hypoplasia of the corpus callosum, Ag... OMIM:619418
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Microcephaly, Primary microcephaly, Patent ductus arteriosus, Hypoplas... ORPHA:464306
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit... ORPHA:48435
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Patent ductus arteriosus ORPHA:2282
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Stroke OMIM:618188
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Bruising susceptibility, Abnormal heart morphology OMIM:227646
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Microcephaly, Aplas... OMIM:235730
Weaver Syndrome
Patent ductus arteriosus OMIM:277590
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Mitral valve prola... ORPHA:363700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Ventricular septal defect OMIM:243150
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Ventricular septal defect, Microcephaly, Dilatation of ... ORPHA:459070
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Microcephaly, Agenesis of maxillary lateral incisor, Short c... OMIM:309800
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna... ORPHA:1071
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Bruising susceptibility, Aortic rupture OMIM:614557
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Disproportionate shortening of the tibia... OMIM:263520
Fanconi Anemia
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A... ORPHA:84
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Micromelia, Micrognathia, Microcephaly, Hyp... OMIM:122470
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Ventricul... OMIM:134780
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ventricular septal d... ORPHA:506
Fryns Syndrome
Microretrognathia, Ventricular septal defect, Short thumb, Hypoplasia of the optic tract, Hypopla... OMIM:229850
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Micrognathia, Macrogyria, Cerebellar hypoplasia, Atrial septal defect,... OMIM:614866
Poems Syndrome
Pericardial effusion, Acrocyanosis ORPHA:2905
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis OMIM:259900
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Bicuspid ... OMIM:612289
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Cranioectodermal Dysplasia 2
Patent ductus arteriosus, Ectodermal dysplasia, Atrial septal defect, Left ventricular hypertroph... OMIM:613610
Zttk Syndrome
Relative macrocephaly, Ventricular septal defect, Hypoplasia of the maxilla, Dysplastic corpus ca... OMIM:617140
Knobloch Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:1571
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Acrofacial Dysostosis, Cincinnati Type
Patent ductus arteriosus OMIM:616462
Khan-Khan-Katsanis Syndrome
Bilateral superior vena cava with no bridging vein, Patent foramen ovale, Patent ductus arteriosu... OMIM:618460
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Carious teeth, Supernumerary tooth... ORPHA:353281
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus OMIM:213980
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Relative macrocephaly, Ventricular septal defect, Pulmonic stenosis, Macrocephaly, Atrial septal ... OMIM:607721
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Dental ma... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Dental ma... ORPHA:352665
Myasthenia Gravis
Acrocyanosis ORPHA:589
Aicardi-Goutières Syndrome
Cutis marmorata, Cardiomegaly, Calcification of the aorta, Aortic aneurysm, Prolonged neonatal ja... ORPHA:51
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Abnormal basal ganglia MRI signal intensity, Ventricular septal d... ORPHA:672
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Patent ductus arteriosus ORPHA:1272
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... ORPHA:444077
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema, Vasculitis, Cutaneous photosensi... ORPHA:221
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620005
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Microcephaly, Partial anomalous pulmonary venous return, Small hand, S... OMIM:301044
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Rabson-Mendenhall Syndrome
Mandibular prognathia, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Advanced ... ORPHA:769
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Dil... ORPHA:287
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve... OMIM:619534
Okamoto Syndrome
Ventricular septal defect, Abnormally large globe, Microcephaly, Abnormal left ventricle morpholo... ORPHA:2729
Hunter-Macdonald Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Mitral valve prolapse OMIM:611962
Degcags Syndrome
Ventricular septal defect, Patent ductus arteriosus, Premature graying of hair, Persistent left s... OMIM:619488
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Diffuse white matter abnormali... ORPHA:1934
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Ulnar-Mammary Syndrome
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal defect, Aplasia o... OMIM:181450
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Micrognathia, Short thumb, Short toe, Atrial septal defect, Tetralogy ... OMIM:613458
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Short metatarsal, Atrial septal defect, Malar flatte... OMIM:150250
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Patent ductus arteriosus, Total anomalous pulmonary venous return, Abnormal heart morphology ORPHA:487796
Jacobsen Syndrome
Ventricular septal defect, Missing ribs, Short toe, Cerebral atrophy, Coarctation of aorta, Hypop... ORPHA:2308
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Ventricular septal defect, Absent hand, Short distal phalanx of f... ORPHA:3138
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... ORPHA:75565
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Severe photosensitivity, Coarctation of aort... OMIM:270400
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Ventricular septal defect, Microcephaly OMIM:259770
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro... OMIM:194050
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Patent foramen ovale OMIM:300990
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale ORPHA:96149
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus OMIM:616300
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Patent fora... OMIM:607872
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Patent ductus arteriosus OMIM:300868
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Dilated cardiomyopathy, Biventricular hypert... OMIM:619573
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Hypoplastic scapulae, Ventricular septal defect, Micrognathia, Hypoplasia ... ORPHA:96334
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Carious teeth, Super... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Carious teeth, Super... ORPHA:353277
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Microcephaly, Supernumerary tooth... ORPHA:268261
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis, Macrocephaly OMIM:619575
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus, Dilated cardiomy... ORPHA:1606
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery ste... OMIM:118450
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Macrocephaly, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Primary Hyperoxaluria
Cardiomyopathy, Acrocyanosis, Cutis marmorata ORPHA:416
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... OMIM:271640
Meckel Syndrome, Type 1
Patent ductus arteriosus, Abnormal cardiac septum morphology, Vascular dilatation, Coarctation of... OMIM:249000
3-Methylglutaconic Aciduria, Type Viii
Patent ductus arteriosus, Jaundice OMIM:617248
Renal Agenesis
Ventricular septal defect ORPHA:411709
Limb Body Wall Complex
Ventricular septal defect, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Ap... ORPHA:2369
Turnpenny-Fry Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... OMIM:618371
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice ORPHA:363611
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Micrognathia, Patent ductus arter... ORPHA:1662
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ventricular septal defect, Short toe, Short foot, Cardiomyopathy, Macrocep... ORPHA:373
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:85276
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ventricular septal defect, Absent septum pellucidum, Short hallux, Micrognathia, ... OMIM:194190
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Intraventricular hemorrhage, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Intraventricular hemorrhage, Abno... ORPHA:363958
Costello Syndrome
Ventricular septal defect, Micrognathia, Cerebral atrophy, Mitral valve prolapse, Pulmonic stenos... OMIM:218040
Roberts-Sc Phocomelia Syndrome
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Micrognathia, Aplasia of the ul... OMIM:268300
Vater/Vacterl Association
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... OMIM:192350
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges ... OMIM:135900
17Q24.2 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Thick corpus... OMIM:618846
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus OMIM:619934
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Short metatarsal, Absent hallux, Pachygyria, Patent f... OMIM:216340
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Ven... OMIM:143095
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Genitopatellar Syndrome
Delayed eruption of teeth, Ventricular septal defect, Micrognathia, Microcephaly, Patellar aplasi... OMIM:606170
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... ORPHA:500095
Treacher-Collins Syndrome
Patent ductus arteriosus ORPHA:861
Peters-Plus Syndrome
Short metacarpal, Ventricular septal defect, Rhizomelia, Micrognathia, Hypoplasia of the maxilla,... OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Short palm, Cerebellar vermis hypoplasia, Ventricular septal defect, Paten... OMIM:312870
Digeorge Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Recurrent sinusi... OMIM:188400
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Knobloch Syndrome 2
Patent ductus arteriosus OMIM:618458
Craniotubular Dysplasia, Ikegawa Type
Macrocephaly, Ventricular septal defect, Short palm OMIM:619727
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Restrictive Dermopathy 1
Atrial septal defect, Prominent superficial blood vessels, Patent ductus arteriosus OMIM:275210
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect OMIM:614653
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:619841
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Optic nerve hypop... OMIM:620330
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Tetralogy of Fallot, Ventricular septal defect, Micrognathia OMIM:619525
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus ORPHA:1112
Kabuki Syndrome 1
Ventricular septal defect, Microcephaly, Micrognathia, Coarctation of aorta, Short 5th finger, At... OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Large basal ganglia, ... ORPHA:261552
Cornelia De Lange Syndrome
Delayed eruption of teeth, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Micro... ORPHA:199
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Microcephaly, Carious teeth, Short thumb, Patent ductus arteriosus, Sh... OMIM:619522
Sotos Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic aneurysm, ... ORPHA:821
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Patent ductus arteriosus after birth at term, Abnormal heart morpholog... ORPHA:500150
Knobloch Syndrome 1
Patent ductus arteriosus OMIM:267750
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Dilatation of the cerebral artery... OMIM:619475
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus ORPHA:480880
Cohen-Gibson Syndrome
Patent ductus arteriosus OMIM:617561
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Townes-Brocks Syndrome 1
Ventricular septal defect, Microcephaly, Short metatarsal, Aplasia/Hypoplasia of the 3rd toe, Atr... OMIM:107480
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus ORPHA:2363
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Acrocyanosis, Arterial dissection ORPHA:285
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart morpholog... ORPHA:2152
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Pallister-Killian Syndrome
11 pairs of ribs, Delayed eruption of teeth, Relative macrocephaly, Ventricular septal defect, Rh... OMIM:601803
Goodpasture Syndrome
Cyanosis OMIM:233450
Johanson-Blizzard Syndrome
Ventricular septal defect, Microcephaly, Situs inversus totalis, Dilated cardiomyopathy, Atrial s... 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

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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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