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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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