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
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Osteoid Osteoma
Osteoma, Osteoid osteoma OMIM:259550
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Exostoses, Multiple, Type Iii
Multiple exostoses OMIM:600209
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Exostoses Of Heel
Exostoses OMIM:133600
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Mic... OMIM:615524
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia 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
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Oslam Syndrome
Osteosarcoma, Neoplasm OMIM:165660
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Micrognathia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia, Microcephaly, Microphthalmia ORPHA:3434
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Anophthalmia, Microphthalmia OMIM:221950
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
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
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Cardioacrofacial Dysplasia 1
Limb undergrowth, Complete atrioventricular canal defect, Hypoplasia of the maxilla, Atrioventric... OMIM:619142
Oslam Syndrome
Osteosarcoma ORPHA:2760
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Neoplasm, Abnormal hair morphology OMIM:601811
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Tetralogy of Fallot, ... OMIM:601322
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Micrognathia, Microcephaly, Ventr... OMIM:619343
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Ventricular septal defect, Secondary microcephaly, Short ... OMIM:614326
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Microcephaly, 11 pairs of ribs, Coarctation of aorta, Po... OMIM:264480
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Microcephaly, Hypoplasia of the pons, Ventricular septal defect, Thin corpu... OMIM:614249
Feingold Syndrome Type 2
Ventricular septal defect, Microcephaly, Short middle phalanx of finger, Short thumb ORPHA:391646
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Pierre Robin Syndrome
Micrognathia, Cor pulmonale OMIM:261800
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Malar flattening, Microcephaly, Tetralogy of Fallot, Mandibular... ORPHA:1919
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Oncogenic Osteomalacia
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... ORPHA:352540
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta OMIM:616145
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Cerebral atrophy, Malar flattening, Pulmonic... OMIM:179613
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... OMIM:220210
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microcephaly, Atrial septal defect, Microphthalmia ORPHA:3469
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Eruption failure, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect... ORPHA:476126
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Coffin-Siris Syndrome 10
Ventricular septal defect, Microcephaly, Persistence of primary teeth OMIM:618506
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Trismus, Abnormal heart morphology OMIM:218450
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Bowen Syndrome Of Multiple Malformations
Micrognathia, Agenesis of corpus callosum, Abnormal heart morphology OMIM:211200
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Microcephaly, Ventricular septal defect, Hydranencephaly, Truncus... OMIM:601355
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... ORPHA:1461
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... OMIM:616749
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma, Premature graying of hair OMIM:112250
Breath-Holding Spells
Cyanosis OMIM:607578
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microphthalm... ORPHA:77298
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Stroke, Myofiber disarray, Muscular ventricular septal defect, Ventricu... OMIM:115197
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Malar flattening, Atrioventricular canal def... OMIM:190685
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:617044
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Micrognathia, Single ventricle, Anophthalmia, Coarctatio... OMIM:601186
Arthrogryposis, Distal, Type 2E
Micrognathia, Trismus, Microcephaly, Mild microcephaly OMIM:121070
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Cerebral... OMIM:613759
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect OMIM:617877
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Meckel Syndrome, Type 8
Microcephaly, Anophthalmia, Microphthalmia OMIM:613885
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Microphthalmia, Atrioventricular canal defect, Micrognathia, Tetralogy of F... OMIM:600123
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Abnormal cerebral white matter morphology, Microcephaly, Ventricular s... OMIM:614947
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Meier-Gorlin Syndrome 7
Atrial septal defect, Aplasia/Hypoplasia of the patella, Ventricular septal defect, Complete atri... OMIM:617063
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Fadd-Related Immunodeficiency
Ventricular septal defect, Cerebral atrophy, Pulmonary artery atresia ORPHA:306550
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum, Abnormal heart morphology OMIM:184800
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Microcephaly, Dilated cardiomyopathy ORPHA:2515
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Micrognathia, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:616901
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus callosum, Dan... OMIM:164180
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Rhizomelic Syndrome
Pulmonic stenosis, Micrognathia, Rhizomelia, Microcephaly OMIM:268250
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... ORPHA:3426
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembranou... ORPHA:363444
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Micrognathia, Microcephaly, Tetralogy of Fallot, Ventricular septal de... ORPHA:1166
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Atrial septal defect OMIM:608227
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Microcephaly, Atrial septal defect, Periventricular leukomalacia ORPHA:357225
Apnea, Central Sleep
Cyanosis OMIM:207720
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Hypoplasia of the corpus callosum OMIM:616816
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Hypoplasia of the ulna, Ventricular septal defect, Mesomelia, Truncus arteriosus OMIM:228940
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the lower limbs, Micrognathi... ORPHA:40366
Cholesterol Pneumonia
Cyanosis OMIM:215030
Catel-Manzke Syndrome
Ventricular septal defect, Micrognathia, Atrial septal defect, Malar flattening ORPHA:1388
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short ribs, Micrognathia, Short tibia, Tetralogy of Fallot, Complete atrioventricular canal defec... OMIM:617925
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Fetal Trimethadione Syndrome
Atrial septal defect, Micrognathia, Microcephaly, Tetralogy of Fallot, Ventricular septal defect,... ORPHA:1913
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... ORPHA:296
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Microcephaly, Coarctation of... ORPHA:2209
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Hydrolethalus
Retrognathia, Micrognathia, Micromelia, Anophthalmia, Anencephaly, Arrhinencephaly, Agenesis of c... ORPHA:2189
Hamamy Syndrome
Dental malocclusion, Short 2nd finger, Atrial septal defect, Micrognathia, Enamel hypoplasia, Com... OMIM:611174
Trisomy 1Q
Macrocephaly, Microretrognathia, Anophthalmia, Cerebellar hypoplasia, Ventricular septal defect, ... ORPHA:261344
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart OMIM:616276
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Tetraamelia Syndrome 2
Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Microretrognathia OMIM:618021
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Trisomy 13
Atrial septal defect, Malar flattening, Anophthalmia, Ventricular septal defect, Patent ductus ar... ORPHA:3378
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Macrocephaly, Polymicrogyria, Ventricular septal defect, Mega... ORPHA:83473
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Cerebral atroph... OMIM:270100
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Patent ductus arteriosus OMIM:619519
Hydrolethalus Syndrome 1
Micrognathia, Proximal tibial hypoplasia, Anencephaly, Upper limb undergrowth, Abnormal cortical ... OMIM:236680
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Micrognathia, Microcephaly, Ventricular septal defect, Abnormal a... ORPHA:2516
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ventricular septal defect, Anencephaly, Hypoplastic left heart ORPHA:2476
Hadziselimovic Syndrome
Atrial septal defect, Microcephaly, Cerebellar hypoplasia, Tetralogy of Fallot, Pulmonary artery ... OMIM:612946
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Werner Syndrome
Osteosarcoma, Meningioma, Alopecia of scalp OMIM:277700
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the cereb... ORPHA:1926
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Microcephaly, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal... ORPHA:261183
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum ORPHA:217
Diamond-Blackfan Anemia 6
Atrial septal defect, Retrognathia, Micrognathia, Tetralogy of Fallot, Ventricular septal defect,... OMIM:612561
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Jaundice OMIM:614876
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... OMIM:615382
Pentasomy X
Abnormal cardiac septum morphology, Small hand, Micrognathia, Microcephaly, Patent ductus arterio... ORPHA:11
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Sparse scalp hair, Premature graying of hair, Absent eyebrow, Sparse hair, Spar... OMIM:268400
Cat-Eye Syndrome (Type I)
Micrognathia, Abnormal heart morphology DECIPHER:42
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Shortening of all distal phalanges of the fingers, Atrioventricular canal ... OMIM:619135
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Dextrocardia, Coronary artery fistula OMIM:614294
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Retrognathia, Micrognathia, Microcephaly, Hypoplastic right heart, Hypoplas... OMIM:618142
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Myopathy, Congenital, Nonprogressive
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:619967
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:619189
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
10Q22.3Q23.3 Microduplication Syndrome
Microcephaly, Microretrognathia, Tetralogy of Fallot ORPHA:276422
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the distal phal... ORPHA:2513
Rothmund-Thomson Syndrome Type 1
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Alopecia to... ORPHA:221008
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Microcephaly, Atrial septal defect, Malar flattening ORPHA:93946
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:601450
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Cerebral atrophy, Prominence of the premaxil... OMIM:614886
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Rothmund-Thomson Syndrome Type 2
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Lymphoma, A... ORPHA:221016
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microcephaly, Anophthalmia, Hypoplasia of the corpus callosum, Ventricula... OMIM:206900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Macrocephaly, Retrognathia, Pulmonic stenosis, Optic nerve hypopla... OMIM:301056
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Oculoauriculofrontonasal Syndrome
Macrocephaly, Micrognathia, Microcephaly, Ventricular septal defect, Pericallosal lipoma ORPHA:398156
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Mandibular prognathia, Malar flattening, Aplasia/Hypoplasia of the dis... ORPHA:94066
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect OMIM:620024
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Hand oligodactyly, Absent thumb, Hypopl... OMIM:156810
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thick corpus callosum, Macrocephaly, Atrial septal defect, Abnormally large globe, Hypoplasia of ... OMIM:603387
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Micrognathia, Microcephaly, Carious teeth, Ventricular septal defect, Patent... OMIM:613680
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect OMIM:613355
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Microcephaly OMIM:245552
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... OMIM:601005
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Microcephaly, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Ventr... OMIM:300887
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Atrioventricular Septal Defect 3
Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de... OMIM:600309
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Infantile Spasms-Broad Thumbs Syndrome
Cerebral cortical atrophy, Micrognathia, Microcephaly, Hypertrophic cardiomyopathy, Aplasia/Hypop... ORPHA:3173
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Fibrous Dysplasia Of Bone
Elevated circulating growth hormone concentration, Thyroid carcinoma, Ovarian cyst, Testicular ne... ORPHA:249
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Optic nerve hypoplasia, Micr... OMIM:301043
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Partial diaphragmatic absence of pe... ORPHA:2847
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Macrocephaly, Abnormally large globe OMIM:618504
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... ORPHA:392
Sotos Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Muscular ventricular s... OMIM:117550
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Ventricular septal defect, Rhizomelia, Microphthalmia, Agenesis of corpus callosum ORPHA:93267
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Polymicrogyria, Ventricular septal defect, Microphthalmia, Megalencephal... OMIM:602501
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
X-Linked Lissencephaly With Abnormal Genitalia
Micrognathia, Microcephaly, Ventricular septal defect, Patent ductus arteriosus, Pachygyria, Agen... ORPHA:452
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... OMIM:617478
Meckel Syndrome, Type 4
Atrial septal defect, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:611134
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, At... OMIM:158170
Aminopterin/Methotrexate Embryofetopathy
Micrognathia, Microcephaly, Micromelia, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresi... ORPHA:1908
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Baller-Gerold Syndrome
Osteosarcoma, Lymphoma ORPHA:1225
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Microcephaly, Micromelia, Aplasia/Hypoplasia of the cerebellum, Ventricul... ORPHA:2772
Walker-Warburg Syndrome
Macrocephaly, Macrogyria, Microcephaly, Anophthalmia, Cerebellar hypoplasia, Polymicrogyria, Abno... ORPHA:899
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Microg... ORPHA:251071
Lambert Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Malar flattening ORPHA:1296
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Microphthalmia, Agenesis of co... ORPHA:139471
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... ORPHA:244
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Lipoma, Anencephaly, Multiple lipomas, Spina bifida occulta OMIM:182940
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Micrognathia, Microcephaly, Ventricular septal ... OMIM:619123
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Short toe, Atrial septal defect, Malar flattening OMIM:613458
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis OMIM:615812
Delpire-Mcneill Syndrome
Ventricular septal defect, Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Jaundice, Atrial septal defect ORPHA:290
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage, Bicuspid aortic valve OMIM:300049
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Palmoplantar cutis laxa, V... OMIM:615355
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Subcortical white matter calcifications, Enamel hy... ORPHA:90322
Microphthalmia With Limb Anomalies
Hand oligodactyly, Retrognathia, Anophthalmia, Microphthalmia, Fibular hypoplasia, Foot oligodactyly OMIM:206920
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower limbs, Amelia, Amelia in... ORPHA:1027
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... ORPHA:488618
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... OMIM:620067
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy OMIM:309801
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Micrognathia, Microcephaly, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1727
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:613870
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Malar flattening, Micrognathia, Patent ductus arteriosus, Hypoplasia of the... OMIM:241310
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cerebral atrophy, Right ventricular hypertr... OMIM:614261
Mcdonough Syndrome
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... OMIM:248950
Char Syndrome
Patent ductus arteriosus OMIM:169100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Bicuspid aortic valve, Macrocephaly, Microcephaly, Short 5th finger,... ORPHA:500159
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2184
3C Syndrome
Abnormal mitral valve morphology, Macrocephaly, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:7
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Secundum atrial septal defect, Hypoplasia of the pons, Ventricular septal defe... OMIM:619909
Renal Tubular Dysgenesis
Microcephaly, Tetralogy of Fallot ORPHA:3033
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Retrognathia, Micrognathia, Microcephaly, Macular hypoplasia OMIM:613792
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Atypical Werner Syndrome
Pili torti, Abnormal hair morphology, Ovarian neoplasm, Abnormal hair quantity, Abnormal hair who... ORPHA:79474
Grange Syndrome
Carotid artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis OMIM:602531
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Phace Association
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Aortic aneurysm, Coarctati... OMIM:606519
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... ORPHA:2326
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, Microcephaly, Hypoplasia of the corpus callosum, Ventricular septal defect, Patent ... OMIM:613457
Solitary Median Maxillary Central Incisor
Microcephaly, Anophthalmia, Microphthalmia OMIM:147250
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... ORPHA:391641
Aphalangy With Hemivertebrae
Ventricular septal defect, Aplasia of the phalanges of the toes, Aphalangy of hands and feet OMIM:207620
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Retrognathia, Microcephaly, Ventricular septal defect, Partial agenesi... OMIM:234050
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:608406
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Paten... ORPHA:2328
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Micromelia, Hypoplasia of the corpus callosum, Ventricular septal ... ORPHA:508488
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Vascu... ORPHA:2041
Dysosteosclerosis
Abnormal dental enamel morphology, Hypoplastic vertebral bodies, Macrocephaly, Cerebral calcifica... ORPHA:1782
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616501
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Noonan Syndrome 12
Ventricular septal defect, 11 pairs of ribs, Tetralogy of Fallot OMIM:618624
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Emanuel Syndrome
Atrial septal defect, Aortic valve stenosis, Cerebral atrophy, Pulmonic stenosis, Micrognathia, M... OMIM:609029
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Macrocephaly, Atrial septal defect, Cerebellar hypoplasia, Ventri... OMIM:300963
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Transposition of the great arteries, Absent radius, Atrioventricular canal defect OMIM:314390
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Chronic sinusitis, Primum atrial septal defect, Situs inve... OMIM:619608
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Atrial septal defect, Anophthalmia, Arrhinencephaly, Amelia, Abnormal cortical gyrat... ORPHA:2538
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Atrial septal defect, Cortical dysplasia, Cerebellar hypopl... OMIM:613001
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hy... ORPHA:2256
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Secondary microcephaly ORPHA:3369
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect OMIM:243440
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Short thumb, Pulmonary artery atresia, Ventricular septal defect, Truncus a... ORPHA:401935
Methimazole Embryofetopathy
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Thin corpus callosum OMIM:616277
Alg12-Cdg
Biventricular hypertrophy, Patent ductus arteriosus, Patent foramen ovale, Muscular ventricular s... ORPHA:79324
Frank-Ter Haar Syndrome
Double outlet right ventricle, Dental malocclusion, Atrial septal defect, Secundum atrial septal ... OMIM:249420
Microphthalmia, Syndromic 2
Double outlet right ventricle, Dental malocclusion, Supernumerary tooth, Persistence of primary t... OMIM:300166
Blackfan-Diamond Anemia
Malignant genitourinary tract tumor, Low anterior hairline, Adenocarcinoma of the colon, Myelodys... ORPHA:124
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... OMIM:224120
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, ... ORPHA:508498
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Short thumb ORPHA:3449
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... ORPHA:91387
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy OMIM:607598
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Micrognathia... ORPHA:2306
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Amelia, Ventricular septal defect, Foot oligodactyly, Absent septum pellucidum OMIM:601357
Holoprosencephaly 14
Double outlet right ventricle, Macrocephaly, Aortic valve atresia, Microcephaly, Partial absence ... OMIM:619895
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Lowry-Maclean Syndrome
Atrioventricular canal defect, Retrognathia, Micrognathia, Microcephaly, Coarctation of aorta, Hy... ORPHA:2409
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Patent ductus arteriosus, Vascular dilatation OMIM:220220
Fanconi Anemia, Complementation Group I
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Optic nerve h... OMIM:609053
Short Stature-Micrognathia Syndrome
Retrognathia, Micrognathia, Microcephaly, Ventricular septal defect, Rhizomelia OMIM:617164
Apert Syndrome
Ventricular septal defect, Overriding aorta OMIM:101200
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Macrocephal... ORPHA:163956
Silver-Russell Syndrome 3
Patent ductus arteriosus OMIM:616489
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Macrocephaly, Microretrognathia, Atrioventricular canal defect, Microce... ORPHA:276413
Johnson Neuroectodermal Syndrome
Retrognathia, Microcephaly, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, R... OMIM:147770
Filippi Syndrome
Serrated incisors, Ventricular septal defect, Microcephaly OMIM:272440
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal heart morphology, Short toe, Short femur, Short tibia... ORPHA:93323
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Cyanosis, Abnormal coronary artery morp... ORPHA:980
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Stankiewicz-Isidor Syndrome
Absent thumb, Retrognathia, Micrognathia, Ventricular septal defect, Truncus arteriosus, Patent d... OMIM:617516
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Short foot ORPHA:228399
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Patent duc... ORPHA:1880
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Retrognathia, Micrognathia, Small hand, Microcephaly, Hypoplasia of the cor... OMIM:270450
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Proboscis Lateralis
Macrocephaly, Abnormal facial skeleton morphology, Optic nerve hypoplasia, Abnormal ethmoid bone ... ORPHA:141099
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:2412
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale OMIM:616867
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Microphthalmia, Micrognathia, Microcephaly, Hypoplasia of the... ORPHA:1352
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Macrocephaly, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpu... OMIM:617751
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia affecting the eye, Atrioventricular canal defect, Aplasia/Hypoplasia of the th... ORPHA:2549
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Anophthalmia, Hypoplasia of the maxilla, Mandibular prognathia, Aniridia ORPHA:1101
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Perimembranous ventricular septal defect OMIM:301040
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Diamond-Blackfan Anemia 1
Myelodysplasia, Osteosarcoma, Colon cancer OMIM:105650
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Holoprosencephaly
Abnormal pulmonary valve morphology, Macrocephaly, Microcephaly, Anophthalmia, Aplasia/Hypoplasia... ORPHA:2162
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Tetralogy of Fallot ORPHA:1381
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... ORPHA:363705
Microcephaly 13, Primary, Autosomal Recessive
Small hand, Micrognathia, Restrictive cardiomyopathy, Microcephaly, Cerebellar hypoplasia, Partia... OMIM:616051
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cyanosis, Dextrocardia, Hypoxemia, Abnormal pulmonary artery morph... ORPHA:2257
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... OMIM:619910
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Heart And Brain Malformation Syndrome
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventricular septal defect, Cer... OMIM:616920
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
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Limb undergrow... OMIM:619143
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect, Diffuse cerebral atrophy, Thin corpus callosum OMIM:619908
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Relative macrocephaly, Atrioventricular canal defect, Pulm... OMIM:605275
Craniofacial Dyssynostosis With Short Stature
Malar flattening, Hypoplasia of the corpus callosum, Ventricular septal defect, Patent ductus art... OMIM:218350
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Retrognathia, Micrognathia, Microce... ORPHA:2556
Transaldolase Deficiency
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:606003
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:1597
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... ORPHA:335
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... ORPHA:288
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Spinal arteriovenous malformation, Dilatation of celiac artery, Cyanosis, Ar... OMIM:610655
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome