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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,  Brg1,  SW1/SNF,  b2b692Clo,  b2b508.1Clo

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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
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Coffin-Siris Syndrome 4
Abnormal corpus callosum morphology, Microcephaly, Dandy-Walker malformation, Abnormal heart morp... OMIM:614609
Coffin-Siris Syndrome
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Abnormal heart morpho... 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
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Osteoid Osteoma
Osteoma, Osteoid osteoma OMIM:259550
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Exostoses, Multiple, Type Iii
Multiple exostoses OMIM:600209
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Exostoses Of Heel
Exostoses OMIM:133600
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Cutis marmorata, Ventricular septal defect OMIM:615297
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Retrognathia, M... OMIM:615524
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly, Cerebral hypoplasia, Micrognathia OMIM:618266
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Coronary Artery Dissection, Spontaneous
Coronary artery dissection OMIM:122455
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Mmep Syndrome
Microcephaly, Mandibular prognathia, Microphthalmia, Ventricular septal defect ORPHA:3434
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Microphthalmia, Anophthalmia OMIM:221950
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Gombo Syndrome
Microcephaly, Microphthalmia, Abnormal heart morphology OMIM:233270
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect, Limb undergrowth, Hypoplas... OMIM:619142
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Oslam Syndrome
Osteosarcoma ORPHA:2760
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Dpagt1-Cdg
Microcephaly, Micrognathia ORPHA:86309
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma, Abnormal hair morphology OMIM:601811
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Tetralog... OMIM:601322
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... OMIM:614326
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Microcephaly 13, Primary, Autosomal Recessive
Simplified gyral pattern, Cerebellar hypoplasia, Small hand, Short foot, Microcephaly, Micrognath... OMIM:616051
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Feingold Syndrome Type 2
Short middle phalanx of finger, Microcephaly, Short thumb, Ventricular septal defect ORPHA:391646
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Pierre Robin Syndrome
Cor pulmonale, Micrognathia OMIM:261800
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Microceph... ORPHA:1919
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect ORPHA:1918
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Werner Syndrome
Meningioma, Osteosarcoma, Abnormal hair morphology OMIM:277700
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Oncogenic Osteomalacia
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... ORPHA:352540
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Coarctation of aorta, Ventricular septal defect OMIM:616145
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Cerebral atrophy, Patent ductus arteriosus, Pulm... OMIM:179613
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Livedo reticularis, Patent ductus arteriosus, Posterior cerebral art... OMIM:132900
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, M... OMIM:601355
Xk Aprosencephaly Syndrome
Microcephaly, Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aplasia of the 1st metacarpal, Complete atrioventricular canal defect, Partial absence of thumb, ... ORPHA:476126
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Coffin-Siris Syndrome 10
Microcephaly, Persistence of primary teeth, Ventricular septal defect OMIM:618506
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Trismus, Abnormal heart morphology OMIM:218450
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Bowen Syndrome Of Multiple Malformations
Micrognathia, Agenesis of corpus callosum, Abnormal heart morphology OMIM:211200
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Premature graying of hair, Histiocytoma OMIM:112250
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hypothalamic hamartoma, Ventricular septal defect, Hypoplasia of the corpus... OMIM:206900
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Chondrosarcoma, Hemangiomatosis, Mul... ORPHA:163634
Breath-Holding Spells
Cyanosis OMIM:607578
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Anophthalmia, 11 pairs of ri... ORPHA:77298
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Micrognathia, Malar flattening, Hypoplasia of the... OMIM:241310
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Hypoplasia of the... OMIM:600123
Meckel Syndrome, Type 8
Microcephaly, Microphthalmia, Anophthalmia OMIM:613885
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Cerebral ... OMIM:613759
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Down Syndrome
Short middle phalanx of the 5th finger, Complete atrioventricular canal defect, Malar flattening,... OMIM:190685
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Micrognathia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Ventricular septal defect OMIM:616901
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Aplasia/... OMIM:617063
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve morphology, Abn... ORPHA:1354
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Short sternum, Premature sternal synostosis, Abnormal heart morphology OMIM:184800
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Microcephaly, Ventricular septal defect ORPHA:2515
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect ORPHA:306550
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Cerebral cortical atrophy, Microcephaly, T... ORPHA:1166
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Rhizomelic Syndrome
Pulmonic stenosis, Micrognathia, Microcephaly, Rhizomelia OMIM:268250
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Perimembranous ventric... ORPHA:363444
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Micrognathia OMIM:228940
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia of the optic nerve, Apl... ORPHA:40366
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Dan... OMIM:164180
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Abnormal cerebral white matter morphology, Ventricular septal hypertrophy, Ventricu... OMIM:614947
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Atrial septal defect, Ventricular septal defect OMIM:608227
Primary Non-Essential Cutis Verticis Gyrata
Periventricular leukomalacia, Atrial septal defect, Microcephaly, Ventricular septal defect ORPHA:357225
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Natal tooth, Short ribs, Short tibia, Fibular hypoplasia,... OMIM:617925
Catel-Manzke Syndrome
Micrognathia, Atrial septal defect, Malar flattening, Ventricular septal defect ORPHA:1388
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Patent ductus arteriosus ORPHA:1321
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Apnea, Central Sleep
Cyanosis OMIM:207720
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, Microcephaly, Tetralogy of Fallot, Micrognathia,... ORPHA:1913
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Cholesterol Pneumonia
Cyanosis OMIM:215030
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect ORPHA:2476
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplasia of the corpus callosum, Double o... ORPHA:2209
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616276
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Patent ductus arteriosus OMIM:211930
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Hydrolethalus Syndrome 1
Upper limb undergrowth, Agenesis of corpus callosum, Ventricular septal defect, Absent septum pel... OMIM:236680
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Hydrolethalus
Absent septum pellucidum, Arrhinencephaly, Anencephaly, Microphthalmia, Anophthalmia, Retrognathi... ORPHA:2189
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Trisomy 1Q
Ventricular septal defect, Microretrognathia, Cerebellar hypoplasia, Patent ductus arteriosus, An... ORPHA:261344
Tetraamelia Syndrome 2
Microretrognathia, Micrognathia, Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Short distal phalanx o... ORPHA:2516
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Trisomy 13
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Patent ductus ar... ORPHA:3378
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Hypoplasia of the corpu... OMIM:612946
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Polymicrogyria, Macrocephaly, Abnormal cardiac septum ... ORPHA:83473
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ventricular ... ORPHA:1329
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventricular sept... ORPHA:1926
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation ORPHA:217
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Cerebellar vermis hypopl... OMIM:619135
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Cat-Eye Syndrome (Type I)
Micrognathia, Abnormal heart morphology DECIPHER:42
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Basal cell carcinoma, Sparse eyebrow, Sparse hair, Premature graying of hair, Abs... OMIM:268400
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Paten... OMIM:239711
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Microcephaly, Tetralogy of Fallot ORPHA:276422
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Porencephalic cyst, Secundum atrial septal defect, Arrhinencephaly, Fus... OMIM:156810
Pentasomy X
Patent ductus arteriosus, Small hand, Short foot, Microcephaly, Abnormal cardiac septum morpholog... ORPHA:11
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Short distal ... ORPHA:2513
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Thick cerebral cortex, Ventricular septal defect, Abnormal heart morphology... ORPHA:261183
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Premature ovarian insufficiency, Sparse hai... ORPHA:221008
Holoprosencephaly 13, X-Linked
Agenesis of corpus callosum, Ventricular septal defect, Patent ductus arteriosus, Double outlet r... OMIM:301043
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Lipoma of corpus callosum, Macrocephaly, Microcephaly, Micrognathia ORPHA:398156
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Microcephaly, Retrogna... OMIM:618142
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Aniso... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Ventricular septal defect, Hypoplasia of the corpus callosum, M... OMIM:603387
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Microcephaly, Atrial septal defect, Malar flattening ORPHA:93946
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Micropht... OMIM:618652
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Sparse hair, Squamous cell carcinoma, Lymph... ORPHA:221016
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Lambotte Syndrome
Microcephaly, Retrognathia, Ventricular septal defect OMIM:245552
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Hemifacial Microsomia
Vertebral hypoplasia, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:164210
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus OMIM:601450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Global brain atrophy, Hypoplasia of the corpus callosum, Cerebellar hy... OMIM:301056
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia, Microphthalmia, Micrognathia, Agenesis of corpus callosum ORPHA:93267
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Malar flattening, ... ORPHA:94066
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia, Atrioventricular canal defect, Microcephaly, Retrognathia, Micrognathia OMIM:613792
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrocephaly, Abnormally large globe, Ventricular septal defect OMIM:618504
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Ventricular septal defect, Megalencephaly, Pol... OMIM:602501
Infantile Spasms-Broad Thumbs Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Microcephaly, Micrognathia,... ORPHA:3173
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Cerebral atrophy, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:614886
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Neoplasm of the breast, Cutaneou... ORPHA:249
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia ORPHA:411986
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
8P23.1 Microdeletion Syndrome
Biparietal narrowing, Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac sept... ORPHA:251071
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Pa... ORPHA:2847
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Aplasia/Hypoplasia of the corpus ca... ORPHA:1908
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Histiocytoid cardiomyopathy, Atrial septal defect, Ventricular septal defect OMIM:309801
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Inlet ventricular septal defect, Cyanosis, Primum atrial septal de... OMIM:600309
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Hypoplasia of the corpus callosum, Microcephaly, T... OMIM:300887
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Ventricular septal defect ORPHA:1296
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Hypoplastic left heart, Microcep... ORPHA:2772
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Ventricular septal defect, Patent ductus arteriosus, Microcephaly, Micrognathia, Agen... ORPHA:452
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Hypoplastic left heart, Patent ductus arteriosus OMIM:617661
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Microcephaly, Dental malocclu... OMIM:613680
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Cerebellar vermis hypoplasia, Pulmonic stenosis, Atrioventricular cana... OMIM:619123
Baller-Gerold Syndrome
Osteosarcoma, Lymphoma ORPHA:1225
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Ventricular septal defect OMIM:616816
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Congenital Rubella Syndrome
Jaundice, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Malar flattening, Ventricular septal defect OMIM:613458
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum, Ventricular septal defect OMIM:619083
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Patent ductus arteriosu... OMIM:615355
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypoplasia, Polymic... ORPHA:899
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Microcephaly, Short 5th fi... OMIM:600987
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Microphthalmia With Brain And Digit Anomalies
Inferior vermis hypoplasia, Microphthalmia, Anophthalmia, Microcephaly, Agenesis of corpus callosum ORPHA:139471
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Microphthalmia With Limb Anomalies
Foot oligodactyly, Fibular hypoplasia, Hand oligodactyly, Microphthalmia, Anophthalmia, Retrognathia OMIM:206920
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Microcephaly, Anterior hypopituitarism, Decreased response to growt... OMIM:147250
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Mandibular... ORPHA:90322
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:614261
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Autosomal Recessive Amelia
Acromelia of the lower limbs, Amelia involving the upper limbs, Amelia, Abnormal cardiac septum m... ORPHA:1027
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Macrocephaly, Atrial septal defect, Ventricular septal defe... ORPHA:7
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Char Syndrome
Patent ductus arteriosus OMIM:169100
Aphalangy With Hemivertebrae
Aplasia of the phalanges of the toes, Aphalangy of hands and feet, Ventricular septal defect OMIM:207620
Mcdonough Syndrome
Atrial septal defect, Ventricular septal defect, Mandibular prognathia, Pulmonic stenosis, Aortic... OMIM:248950
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Microcephaly, Tetralo... ORPHA:1727
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve OMIM:602531
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Macrocephaly, Rhizomelia, Microphthalmia, Anophthalmia OMIM:615877
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:608406
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Decreased response to growth hormone stimuation test, Vent... OMIM:618624
8Q24.3 Microdeletion Syndrome
Global brain atrophy, Patent ductus arteriosus, Short hallux, Short femur, Truncus arteriosus, Me... ORPHA:508488
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Filippi Syndrome
Microcephaly, Ventricular septal defect OMIM:272440
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Ventricular septal defect, Cerebral cortical atrophy, Microphthalmia, Microc... OMIM:234050
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Agenesis of corpus callosum, Ventricular septal d... OMIM:609053
Kapur-Toriello Syndrome
Pachygyria, Ventricular septal defect, Patent ductus arteriosus, Dysplastic corpus callosum, Poly... ORPHA:2328
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Renal Tubular Dysgenesis
Microcephaly, Tetralogy of Fallot ORPHA:3033
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Ventricular septal defect, Craniofa... ORPHA:1782
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Macrocephaly, Abnormal periventricular white matter morphology, Vent... ORPHA:500159
Emanuel Syndrome
Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Ventricular septal d... OMIM:609029
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Absent radius, Short humerus, Transposition of the great arteries OMIM:314390
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Hypoplasia of the ulna,... ORPHA:2256
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Cerebellar hypoplasia, Patent ductus arteriosus,... OMIM:300963
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Absent septum pellucidum, Ventricular septal defect, Foot oligodactyly, Amelia OMIM:601357
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, S... ORPHA:401935
Phace Association
Arterial stenosis, Ventricular septal defect, Cerebellar hypoplasia, Patent ductus arteriosus, Va... OMIM:606519
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Hirsutism, Cardiac myxoma, Adr... ORPHA:1359
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Porencephalic cyst, Ventricular septal defect, Hypoplasia of the corpus cal... OMIM:613001
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect OMIM:243440
Warsaw Breakage Syndrome
Microcephaly, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis OMIM:615812
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus OMIM:610498
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Patent fo... OMIM:613457
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Ventricular septal defect ORPHA:3369
10Q22.3Q23.3 Microdeletion Syndrome
Macrocephaly, Microretrognathia, Cerebellar hypoplasia, Patent ductus arteriosus, Tricuspid valve... ORPHA:276413
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Patent ductus arteriosus, Vascular dilatation OMIM:220220
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Atypical Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Neoplasm of the breast, Abnormal hair whorl, Sparse ... ORPHA:79474
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Micrognathia, Ventricular septal defect OMIM:607598
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Aplasia/Hypoplasia of the corpus callosum, Coarcta... ORPHA:2409
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Microcephaly, Mic... OMIM:208085
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Microcephaly, Retrognathia, R... OMIM:147770
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Silver-Russell Syndrome 3
Patent ductus arteriosus OMIM:616489
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Atrial septal defect, Truncus arteriosus, Absent septum pellucidum, Arrhinencephaly,... ORPHA:2538
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perimembranous ventricular s... ORPHA:508498
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect, Rhizomelia, Microcephaly, Retrognathia, Micrognathia OMIM:617164
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the th... ORPHA:2549
Fibular Hemimelia
Short femur, Abnormal heart morphology, Foot oligodactyly, Anophthalmia, Limb undergrowth, Fibula... ORPHA:93323
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Frank-Ter Haar Syndrome
Buphthalmos, Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Abno... OMIM:249420
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
8Q12 Microduplication Syndrome
Atrial septal defect, Short foot, Ventricular septal defect ORPHA:228399
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Small cerebra... OMIM:617360
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Rieger anomaly, Hypoplasia of the corpus callosu... OMIM:270450
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Tetralogy of Fallot, Hypoplasia of the odontoid process, Micromelia ORPHA:93315
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Heart And Brain Malformation Syndrome
Aplasia/Hypoplasia of the corpus callosum, Interrupted aortic arch, Global brain atrophy, Ventric... OMIM:616920
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Perimembranous ventricular septal defect OMIM:618651
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Overriding aorta ORPHA:3186
Blackfan-Diamond Anemia
Low anterior hairline, Myelodysplasia, Adenocarcinoma of the colon, Malignant genitourinary tract... ORPHA:124
Craniofacial Dyssynostosis
Patent ductus arteriosus ORPHA:1516
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the t... ORPHA:1352
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:2412
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callos... ORPHA:2162
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:616501
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Holoprosencephaly 9
Hypoplasia of the premaxilla, Panhypopituitarism, Partial agenesis of the corpus callosum, Agenes... OMIM:610829
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:606003
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:1597
X-Linked Intellectual Disability, Nascimento Type
Macrocephaly, Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Abnormal ... ORPHA:163956
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Microcephaly, Retrognathia, Dandy-Walker mal... OMIM:612938
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Hypoplasia of the cor... OMIM:300166
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Microcephaly, Micrognathia, Bacterial endocarditis ORPHA:1964
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Mandibular prognathia, Tricuspid valve prolapse, Anophthalmia, Hypoplasia of the maxilla ORPHA:1101
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Malar fla... OMIM:218350
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Atrial septal defect, Cerebral white matter atrophy, Ventricu... ORPHA:435638
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Limb undergrowth, Left superior vena cava draining to coronary sinus, Atri... OMIM:619143
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect, Patent ductus a... OMIM:605275
Diamond-Blackfan Anemia 1
Myelodysplasia, Osteosarcoma, Colon cancer OMIM:105650
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Short thumb, Ventricular septal defect ORPHA:3449
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Ventricular septal defect, Hy... ORPHA:79243
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Patent ductus arteriosus OMIM:616867
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Patent ductus arteriosus ORPHA:1972
Kabuki Syndrome 2
Atrial septal defect, Natal tooth, Pulmonic stenosis, Coarctation of aorta, Atrioventricular cana... OMIM:300867
Burn-Mckeown Syndrome
Micrognathia, Mandibular prognathia, Atrial septal defect, Ventricular septal defect OMIM:608572
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Short thumb, Absent thum... OMIM:617516
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, Patent ductus... ORPHA:1880
Klippel-Trénaunay Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Peripheral a... ORPHA:90308
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Congenital Disorder Of Glycosylation, Type Ih
Abnormal cardiac septum morphology, Patent ductus arteriosus, Abnormal heart morphology OMIM:608104
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Microphthalmia With Linear Skin Defects Syndrome
Mandibular aplasia, Abnormal dental enamel morphology, Absent septum pellucidum, Retrognathia, Mi... ORPHA:2556
6P22 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:251046
Vacterl With Hydrocephalus
Hypoplasia of the radius, Arrhinencephaly, Absence of the sacrum, Microphthalmia, Anophthalmia, R... ORPHA:3412
Analbuminemia
Patent ductus arteriosus OMIM:616000
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Cerebellar hypoplasia, Microcephaly, Micrognathia, Dandy-Walker malfor... ORPHA:3078
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Patent ductus... ORPHA:2519
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Short Stature And Facioauriculothoracic Malformations
Microcephaly, Ventricular septal defect OMIM:609654
15Q14 Microdeletion Syndrome
Microcephaly, Atrial septal defect, Biparietal narrowing, Ventricular septal defect ORPHA:261190
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Microcephaly, Mandibular prognathia, Micrognathia, Retrognathia ORPHA:2521
Meckel Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the iris... ORPHA:564
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Short middle phalanx of finger, Aplasia/Hypoplasia... OMIM:113000
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Distal Trisomy 5Q
Carious teeth, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Dextr... ORPHA:96097
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Jaundice, Pulmonary artery stenosis, Coarcta... OMIM:612726
Fanconi Anemia, Complementation Group N
Microcephaly, Short thumb, Ventricular septal defect OMIM:610832
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Simplified gyral pa... OMIM:616777
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Adams-Oliver Syndrome 6
Foot oligodactyly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Wolcott-Rallison Syndrome
Microcephaly, Double outlet right ventricle, Atrial septal defect ORPHA:1667
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:618223
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Focal T2 hyperintense basal ganglia lesion, Hypertrophic cardiomyopathy ORPHA:255241
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Coarctation of ... ORPHA:402075
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morphology, Dextrocardia, Cya... ORPHA:2257
Sotos Syndrome 1
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Mandibular prognathia, ... OMIM:117550
Van Esch-O'Driscoll Syndrome