Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms:
4430401P03Rik

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 Sos1 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 Sos1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sos1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Arrhythmia, Abnormal left ventricular function, ... ORPHA:2041
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
7P22.1 Microduplication Syndrome
Macrocephaly, Hypertelorism, Abnormal heart morphology ORPHA:314034
Attrv122I Amyloidosis
Cardiomegaly, Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Ab... ORPHA:85451
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Patent foramen ovale, Congestive heart failure, Generalized amyotrophy, Incr... OMIM:616866
Mcdonough Syndrome
Dental malocclusion, Diastasis recti, Atrial septal defect, Pulmonic stenosis, Micrognathia, Vent... OMIM:248950
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Microcephaly-Capillary Malformation Syndrome
Progressive microcephaly, Patent foramen ovale, Small for gestational age, Atrial septal defect, ... OMIM:614261
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Classic Multiminicore Myopathy
Multiple joint contractures, Congenital muscular dystrophy, Congestive heart failure, Muscle fibe... ORPHA:324604
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia,... OMIM:615285
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Ethanolaminosis
Cardiomegaly OMIM:227150
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Microcephaly, Aortic valve stenosis, Bicuspid aortic valve, Secondary microcephaly OMIM:615599
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Hypertension, Right ventricular hypertrophy OMIM:268500
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis OMIM:241550
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Anemia, Pedal... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic c... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Congestive heart failure, Hepatomegaly, Failure to thrive, Ventricular hypertr... OMIM:619048
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Pulmonic stenosis, Mitral valve prolapse, Micrognath... ORPHA:228410
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Abnormal tricuspid valve morphology, Partial atrioventricula... ORPHA:1330
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Noonan Syndrome 8
Large for gestational age, Webbed neck, Patent ductus arteriosus, Atrial septal defect, Hypertrop... OMIM:615355
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Microcephaly, Failure to thrive, Ascites, Hypertelorism, Edema,... OMIM:608776
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Micr... OMIM:220210
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic stenosis, Situs... OMIM:615415
46,Xx Sex Reversal 5
Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventricular septal defect, Secundum at... OMIM:618901
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Achilles tendon contracture, Increased endomysial connecti... ORPHA:353
Craniofaciofrontodigital Syndrome
Proptosis, Large for gestational age, Abnormal heart valve morphology, Gastrointestinal hemorrhag... ORPHA:363705
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pleural... ORPHA:2414
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Failure to thrive OMIM:617744
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension,... OMIM:230800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Micrognathia, Microcephaly, Failure to thrive, Ventricular septal defect, A... OMIM:208085
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Right atrial enlargement, T lymphocytopenia, Endocardial fibroelastosis, Noni... OMIM:619313
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Nephronophthisis 16
Enlarged kidney, Cholestasis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs invers... OMIM:615382
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Hydrops Fetalis
Small for gestational age, Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary lea... ORPHA:1041
Weill-Marchesani Syndrome
Mitral regurgitation, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Cardiomyopathy, Dilated, 1Kk
Ventricular septal hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic ca... OMIM:615248
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Lymphedema, Hypertension, Right ventricular hypertrophy, Wide an... OMIM:613623
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Cholestasis, Hydrops fetalis, Hypotensi... ORPHA:292
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Congestive heart ... OMIM:540000
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Deeply set eye, Skeletal muscle atrophy, Enamel hypoplasia, Pulmonic stenosis, Microcephaly, Fail... OMIM:615802
Emanuel Syndrome
Deeply set eye, Atrial septal defect, Pulmonic stenosis, Congenital diaphragmatic hernia, Microce... OMIM:609029
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Failure to thrive, Dehydration, Aortic valve stenosis, Weight loss OMIM:143880
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Combined Oxidative Phosphorylation Deficiency 33
Oligohydramnios, Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Monosomy 18Q
Biparietal narrowing, Pulmonary valve defects, Congestive heart failure, Slender build, Left-to-r... ORPHA:1600
Congenital Disorder Of Glycosylation, Type Iig
Hypertelorism, Progressive microcephaly, Failure to thrive in infancy, Micrognathia, Anemia, Camp... OMIM:611209
Dandy-Walker Malformation With Postaxial Polydactyly
Macrocephaly, Microretrognathia, Aortic valve stenosis, Patent ductus arteriosus OMIM:220220
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mandibular prognathia OMIM:607016
Intellectual Developmental Disorder, Autosomal Recessive 72
Microcephaly, Decreased body weight, Secundum atrial septal defect OMIM:618665
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Chronic hepati... ORPHA:231226
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Splenomegaly, Hepatomegaly, Micrognathia, Microce... OMIM:608540
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Portal hypertension, Ascites, Hepatome... OMIM:619487
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Increased QRS ... OMIM:619040
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Small for gestational age, Hypertension, Oligo... OMIM:616733
Pseudo-Torch Syndrome 2
Bradycardia, Hepatomegaly, Pleural effusion, Microcephaly, Secundum atrial septal defect, Ascites... OMIM:617397
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy, Secondary microcephaly OMIM:614654
Dohle Bodies And Leukemia
Lymphedema, Secundum atrial septal defect OMIM:223350
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Anisopoikilocy... ORPHA:231214
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Cantu Syndrome
Large for gestational age, Cardiomegaly, Congenital hypertrophy of left ventricle, Patent ductus ... OMIM:239850
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion, Polycythemia OMIM:260900
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Right ventricular hypertrophy, Syncope, Angina pectoris, Right v... OMIM:265400
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Leukopenia, Biliary tract obstruction, Splenomegaly... ORPHA:77259
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced ejection fraction, Hyp... ORPHA:444013
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Microcephaly, Failure to thrive, Bicuspid aortic valve, Retrognathia, H... OMIM:243310
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Enamel hypoplasia OMIM:261560
Cardiac Diverticulum
Premature ventricular contraction, Tricuspid atresia, Diastasis recti, Dextrocardia, Mitral steno... ORPHA:1686
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect... OMIM:618775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Muscul... OMIM:613156
Primary Pulmonary Hypoplasia
Dextrocardia, Micrognathia, Microcephaly, Failure to thrive, Secundum atrial septal defect, Abnor... ORPHA:2257
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Edema of the dorsum of feet, P... ORPHA:275766
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Left ventricular hypertrophy OMIM:616974
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Pancreatic cysts, Atrial... OMIM:267010
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Hepatomegaly, ... ORPHA:822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Microcephaly, Failure to thrive, Ventricular septal defect, Arthrogryposis multiplex congenita, R... OMIM:613404
Acquired Von Willebrand Syndrome
Hypochromic anemia, Epistaxis, Aortic valve stenosis, Gastrointestinal hemorrhage, Normocytic ane... ORPHA:99147
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect ORPHA:96190
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular septal hypertrophy, Ventricular fibrillation, Ventricular tachycardia, T-wave inversi... OMIM:608758
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Obesity, Microcephaly, Ventricular septal defect, Ventricular sep... OMIM:614947
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis, Macrocephaly, Thin skin, Aortic ... ORPHA:75496
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly, Congestive heart failure, Increased variability in muscle fiber diamet... OMIM:618654
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Pulmonar... ORPHA:210122
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Failure to thrive, Ventric... OMIM:601127
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hypertelorism, Atrial septal defect, Relative macrocephaly, Micrognathia, Camptodactyly, Aortic v... ORPHA:459061
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly, Myocardial infarction, Distal amyotroph... OMIM:205400
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Anemia, Lymphedema, Edema, Pericar... OMIM:617300
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Anemia, Transient ischemic attack, L... OMIM:301500
Bronchopulmonary Dysplasia
Right ventricular failure, Small for gestational age, Right ventricular hypertrophy ORPHA:70589
Emanuel Syndrome
Deeply set eye, Multiple joint contractures, Delayed eruption of teeth, Atrial septal defect, Pul... ORPHA:96170
Catel-Manzke Syndrome
Atrial septal defect, Micrognathia, Failure to thrive, Ventricular septal defect, Camptodactyly o... ORPHA:1388
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Anemia, Pericarditis, Thrombocytopenia, Pericardial effusion ORPHA:231111
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Patent for... ORPHA:26793
Isolated Succinate-Coq Reductase Deficiency
Skeletal myopathy, Abnormal left ventricular function, Skeletal muscle atrophy, Abnormal atrioven... ORPHA:3208
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Agnathia-Otocephaly Complex
Situs inversus totalis, Micrognathia, Mandibular aplasia, Polyhydramnios, Secundum atrial septal ... OMIM:202650
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Familial Idiopathic Dilatation Of The Right Atrium
Midsystolic murmur, Right atrial enlargement, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Ascites, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:57777
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Microcephaly, Hypertrophic cardiomyopathy, Facial diplegia, Secundum atrial septal defect OMIM:619121
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Splenomegaly, Hepatomegaly, Small vessel vasculitis,... ORPHA:36412
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Abnormal heart valve morphology, Abnormal left vent... ORPHA:781
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Hypertrophic card... OMIM:615418
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Hypertelorism, Pericardial effusion OMIM:614684
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, ... ORPHA:464329
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Mend Syndrome
Microretrognathia, Aortic valve stenosis OMIM:300960
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Micrognathia, Hypertension, Secundum ... ORPHA:2260
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Small hypothenar eminence, Polyhydramnios, Ventricular septal defect, Secund... OMIM:612562
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial in... ORPHA:90065
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart, Micrognathia OMIM:601348
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Microcephaly, Atrial septal defect, Ventricular septal defect OMIM:614249
Ring Chromosome 12 Syndrome
Microcephaly, Webbed neck, Small for gestational age, Secundum atrial septal defect ORPHA:1439
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Joubert Syndrome 18
Molar tooth sign on MRI, Camptodactyly, Intrauterine growth retardation, Ventricular septal defect OMIM:614815
Arterial Tortuosity Syndrome
Flexion contracture, Aortic regurgitation, Telangiectases of the cheeks, Congenital diaphragmatic... OMIM:208050
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased proportion of CD3-positive T cells, Pleural effusion, Abno... ORPHA:90362
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, B... OMIM:618719
Chromosome 18Q Deletion Syndrome
Hypertelorism, Failure to thrive in infancy, Congestive heart failure, Dysplastic aortic valve, A... OMIM:601808
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Cholestasis, Pancreatic cysts, Atrial septal defect, Bile duc... OMIM:208540
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Aortic regurgitation, Conotruncal defect, Obesity, Macroglossia, Microcephal... ORPHA:96147
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Abnormality of the thymus, Decreased proportion... OMIM:242840
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Myositis, Leukopenia, Pleural effusion, Lymphopenia, Lymphadenopathy, Ascites... ORPHA:93552
Congenital Fibrinogen Deficiency
Splenic rupture, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Intern... ORPHA:335
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Ventricular s... OMIM:253300
Gaucher Disease Type 3
Pancytopenia, Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, S... ORPHA:77261
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve,... OMIM:109730
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, High-output congestiv... ORPHA:231222
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Barth Syndrome
Deeply set eye, Dilated cardiomyopathy, Skeletal myopathy, Granulocytopenia, Arrhythmia, Congesti... OMIM:302060
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Microcephaly, Hypoplastic left heart, Mitral stenosis, Aortic valve stenosis OMIM:617660
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Small for gestational age, Atrial septal defect, Pulmonary arterial hypertension, Microcephaly, H... OMIM:613355
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Macrocephaly, Hypertelorism, Abnormal cardiac se... ORPHA:83473
White Forelock With Malformations
Atrial septal defect, Hypertelorism OMIM:277740
Pancreatic And Cerebellar Agenesis
Microcephaly, Failure to thrive, Secundum atrial septal defect OMIM:609069
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Frank-Ter Haar Syndrome
Proptosis, Dental malocclusion, Hypertelorism, Patent foramen ovale, Atrial septal defect, Double... OMIM:249420
Lowry-Maclean Syndrome
Intrauterine growth retardation, Delayed eruption of teeth, Abnormal heart morphology, Diaphragma... OMIM:600252
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, A... ORPHA:268
Distal 7Q11.23 Microdeletion Syndrome
Microcephaly, Atrial septal defect ORPHA:254351
Shashi-Pena Syndrome
Atrial septal defect, Retrognathia, Macrocephaly, Hypertelorism, Proptosis OMIM:617190
Trisomy 17P
Flexion contracture, Patent ductus arteriosus, Skeletal muscle atrophy, Micrognathia, Macroglossi... ORPHA:261290
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Generalized amyotrophy, Facial diplegia, Type ... ORPHA:169186
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Hypertension, Lymphadenopathy, Reduced hematocrit, Pericardia... ORPHA:79126
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Oligohydramnios ORPHA:1909
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndro... OMIM:616201
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Myocardial eosinophilic infiltration OMIM:131400
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Relative macrocephaly, Pulmonic stenosis, Hype... OMIM:618499
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Mitral regurgitation, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:612561
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse, Joint hemorrhage, Aortic valve stenosis, Epis... OMIM:193400
Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Joint swelling, Psoriasiform dermatitis, Mediastinal lymphadenopathy,... ORPHA:92
Noonan Syndrome 10
Webbed neck, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Relativ... OMIM:616564
Neurofibromatosis-Noonan Syndrome
Webbed neck, Pulmonic stenosis, Secundum atrial septal defect, Macrocephaly, Hypertelorism OMIM:601321
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Carious teeth, Anemia, Mandibular osteomyelitis, Mandibular pro... OMIM:259710
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Micrognathia, Hypoplastic left heart, Ventricular se... OMIM:265380
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Proptosis, Leukocytosis, Splenomegaly, Hepatomegaly, Micrognathia, Microcephaly, An... OMIM:259720
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Atrial septal defect, Pulmonary arterial hypertension, Microcephaly, Ventric... OMIM:300887
Poems Syndrome
Thrombocytosis, Ascites, Visceromegaly, Pleural effusion, Pulmonary arterial hypertension, Lympha... ORPHA:2905
8P23.1 Duplication Syndrome
Deeply set eye, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect, Hypertelorism ORPHA:251076
Xk Aprosencephaly Syndrome
Hypotelorism, Atrial septal defect, Microcephaly, Polyhydramnios, Ventricular septal defect ORPHA:3469
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral stenosis, Early progressive c... OMIM:185069
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Chylothorax, Webbed neck, Juvenile myelomonocytic leukemia, Lymphedema, Polyhydramnios, Bicuspid ... OMIM:613563
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Flexion contracture, Thrombocytosis, Nonimmune hydrops fetalis, Hepatomegaly, ... OMIM:212065
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Torticollis OMIM:249670
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Holt-Oram Syndrome
Small thenar eminence, Hypoplastic left heart, Ventricular septal defect, Secundum atrial septal ... OMIM:142900
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic ... OMIM:613313
Mmep Syndrome
Microcephaly, Ventricular septal defect, Mandibular prognathia ORPHA:3434
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve... OMIM:619698
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Fa... OMIM:269920
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Atrial septal defect, Pulmonic stenosis, Failure to thrive, Macrocephaly... OMIM:614300
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Lower limb muscle weakne... ORPHA:746
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Cardiomyopathy, Pancreatitis,... ORPHA:79312
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Obesity, Bicuspid aortic valve OMIM:615981
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormal cardiac atrium morphology, Micrognathia, Microcephaly, Abnormal card... ORPHA:2306
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pleural effusion, Weight loss, Pericardial effusion ORPHA:411703
Weill-Marchesani Syndrome 1
Shallow orbits, Broad skull, Pulmonic stenosis, Hypoplasia of the maxilla, Ventricular septal def... OMIM:277600
Geleophysic Dysplasia 2
Tricuspid stenosis, Hepatomegaly, Mitral valve prolapse, Pulmonary arterial hypertension, Mitral ... OMIM:614185
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Pulmonary insufficiency, Aortic r... ORPHA:576
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Myhre Syndrome
Deeply set eye, Hypertelorism, Generalized muscle hypertrophy, Small for gestational age, Atrial ... OMIM:139210
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Left-to-right shunt, Dextrocardia, Ventricular septal defect, Inlet ventricular s... OMIM:619534
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Abnormality of the liver, Arrhythmia, Splenomegaly, Hepatom... ORPHA:398124
Sandhoff Disease
Congestive heart failure, Splenomegaly, Hepatomegaly, Failure to thrive, Macrocephaly ORPHA:796
Cardiac Valvular Dysplasia, X-Linked
Hypertelorism, Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive hear... OMIM:314400
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Alkuraya-Kucinskas Syndrome
Hypotelorism, Webbed neck, Hypertelorism, Arthrogryposis multiplex congenita, Macrocephaly, Campt... OMIM:617822
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary arterial hyper... OMIM:178600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Mitral regurgitation, Patent ductus arteriosus, Atrial septal defect, Co... OMIM:612541
Joubert Syndrome 36
Open mouth, Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Polyhydramnios, Edema, Generalized edema,... ORPHA:79330
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Splenomegaly, Pleural... ORPHA:167
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Feingold Syndrome Type 2
Microcephaly, Ventricular septal defect ORPHA:391646
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Anemia, Polyhydramnios, Pe... ORPHA:163596
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pleural effusion, Mediastinal lymphadenopathy, Elevated pulmonary ar... ORPHA:199241
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormali... ORPHA:90064
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Atrial septal defect, Congenital contracture, Joint contracture of the... ORPHA:352490
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Small for gestational age, Patent ductus ... OMIM:606003
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Abnormality of the philtrum, Dextr... ORPHA:2863
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Meckel Syndrome, Type 4
Intrauterine growth retardation, Atrial septal defect, Molar tooth sign on MRI, Anencephaly, Vent... OMIM:611134
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypertelorism, Ventricular septal defect, Micrognathia OMIM:616901
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Facial palsy, Micrognathia, Retrognathia, Macrocephaly, Aortic valve s... ORPHA:2780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdura... ORPHA:99827
Chromosome 13Q33-Q34 Deletion Syndrome
Deeply set eye, Small thenar eminence, Hypertelorism, Advanced eruption of teeth, Small for gesta... OMIM:619148
14Q11.2 Microdeletion Syndrome
Deeply set eye, Hypertelorism, Ventricular septal defect, Micrognathia ORPHA:261120
Mucopolysaccharidosis, Type Ivb
Carious teeth, Hepatomegaly, Grayish enamel, Mandibular prognathia, Aortic valve stenosis OMIM:253010
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly OMIM:614326
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Dextrocardia, Hepatomegaly, Duodenal... ORPHA:1759
Hadziselimovic Syndrome
Hypotelorism, Tetralogy of Fallot, Atrial septal defect, Microcephaly, Failure to thrive, Ventric... OMIM:612946
Sneddon Syndrome
Hypertension, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Lymphopenia, Ischemic stroke OMIM:182410
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Facial hypotonia, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia,... ORPHA:308552
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber p... ORPHA:98915
Filippi Syndrome
Microcephaly, Decreased body weight, Proptosis, Ventricular septal defect OMIM:272440
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Hypertelorism, Delayed eruption of teeth, Atrial septal defect, Pleu... OMIM:235510
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Holzgreve Syndrome
Hypoplastic left heart, Cleft upper lip, Cleft palate OMIM:236110
Alg9-Cdg
Right ventricular dilatation, Enlarged kidney, Hypertelorism, Progressive microcephaly, Shallow o... ORPHA:79328
Coffin-Siris Syndrome 10
Microcephaly, Persistence of primary teeth, Ventricular septal defect OMIM:618506
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect, Hypoplasia of the maxilla, Macrocephaly, Hy... ORPHA:261295
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:614262
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Everted lower lip vermilion, Tented upper lip vermilion, Cl... OMIM:616898
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Congestive h... ORPHA:75564
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Splenomegaly, Hepatomegaly, Abnormal mandible morphology, Micrognathia,... ORPHA:955
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... ORPHA:439
Catel-Manzke Syndrome
Overriding aorta, High palate, Cleft upper lip, Intrauterine growth retardation, Dextrocardia, Gl... OMIM:616145
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Deeply set eye, Aortic regurgitation, Small for gestational age, Ankle flexion contracture, Micro... ORPHA:464311
Joubert Syndrome 32
Molar tooth sign on MRI, Hypertrophic cardiomyopathy OMIM:617757
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Diprosopus
Anencephaly, Non-midline cleft lip, Cleft palate, Abnormal cardiac septum morphology ORPHA:1681
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Tented upper lip vermilion, Dextrocardia, Congenital diaphragmatic hernia, Cleft... OMIM:614294
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal aortic valve cusp morphology, Congestive heart failure, Patent for... ORPHA:99094
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Micrognathia, Natal tooth, Hypertelorism, Extramedullary hematopoiesis ORPHA:313855
Noonan Syndrome 5
Large for gestational age, Webbed neck, Arrhythmia, Atrial septal defect, Hypertrophic cardiomyop... OMIM:611553
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Aortic regurgitation, Pulmonary insufficiency, Tendon rupture, A... ORPHA:230851
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cardiomegaly, Left ventricular noncompaction, Patent foramen ovale, Slender build, Atrial septal ... OMIM:300967
7Q11.23 Microduplication Syndrome
Deeply set eye, Dental malocclusion, Atrial septal defect, Obesity, Congenital diaphragmatic hern... ORPHA:96121
Neurooculocardiogenitourinary Syndrome
Hypertelorism, Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Secondary m... OMIM:618652
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricul... ORPHA:2476
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... ORPHA:90308
Cardiofaciocutaneous Syndrome 3
Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Failure to thr... OMIM:615279
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... ORPHA:251274
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertension, Mi... OMIM:100300
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect OMIM:614876
Congenital Disorder Of Glycosylation, Type Ih
Hypertelorism, Cholestasis, Patent ductus arteriosus, Hepatomegaly, Anemia, Abnormal heart morpho... OMIM:608104
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Poland Syndrome
Hypoplasia of serratus anterior muscle, Absence of pectoralis minor muscle, Unilateral absence of... OMIM:173800
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypoplastic left heart, Heart murmur, Hypertension, Bicuspid aortic valve, ... ORPHA:402075
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Deeply set eye, Truncus arteriosus, Microcephaly, Bicuspid aortic valve, Transposition of the gre... OMIM:612474
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiom... OMIM:602390
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Broad jaw, Macroglossia OMIM:614501
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mandibular prognathia ORPHA:99725
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Triangular mouth ORPHA:166024
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Thin upper lip vermilion, Microdontia, Prolonged QT in... OMIM:601005
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Congestive heart failure, Enamel hypop... OMIM:253250
Teebi-Shaltout Syndrome
Hypertelorism, Microcephaly, Ventricular septal defect, Camptodactyly, Aortic valve stenosis OMIM:272950
Sc phocomelia syndrome
Micrognathia, Knee flexion contracture, Microcephaly, Hip contracture, Aortic valve stenosis OMIM:269000
Weill-Marchesani Syndrome 2
Shallow orbits, Congestive heart failure, Broad skull, Pulmonic stenosis, Hypoplasia of the maxil... OMIM:608328
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Oligohydramnios, Hypertension, Ventricular septal defect, Arrhythmia OMIM:617021
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right ventricle, Ven... ORPHA:1209
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Mucosal telangiectasiae, Arrhyth... ORPHA:324
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Hypotelorism, Ventricular septal defect, Small for gestational age, Secondary microcephaly ORPHA:3369
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Lymphangioma, Hydrops fetalis, Supernumerary tooth, Splen... ORPHA:2136
Truncus Arteriosus
Cardiomegaly, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, Right v... ORPHA:3384
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Failure to thrive, Secundum atrial septal defect OMIM:156810
Okamoto Syndrome
Proptosis, Webbed neck, Abnormal left ventricle morphology, Abnormal mitral valve morphology, Spl... ORPHA:2729
Dyrk1A-Related Intellectual Disability Syndrome
Deeply set eye, Aortic regurgitation, Multiple joint contractures, Small for gestational age, Pri... ORPHA:464306
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Neuraminidase Deficiency
Vacuolated lymphocytes, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomegaly, Bon... OMIM:256550
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Abnormality of the t... ORPHA:93476
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy OMIM:250951
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Failure to thrive, Lymphadenopathy OMIM:618495
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Microcephaly, Polyhydramnios, Macrocephaly, Hypertelorism ORPHA:466926
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Hypertelorism, Patent foramen ovale, Cholestasis, Cholangitis, Atrial septal d... OMIM:613610
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Hypertelorism, Atrial septal defect, Double outlet right ventricle, Pulmonic... OMIM:179613
Lessel-Kreienkamp Syndrome
Deeply set eye, Patent foramen ovale, Atrial septal defect, Pulmonic stenosis, Bicuspid aortic va... OMIM:619149
Microphthalmia, Syndromic 12
Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Retrognathia, Hypoplast... OMIM:615524
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Microcephaly, Ventricular septal defect, Hip contractur... OMIM:616651
Mend Syndrome
Limb hypertonia, Micrognathia, Abnormal heart morphology, Failure to thrive, Wide anterior fontan... ORPHA:401973
Jacobsen Syndrome
Webbed neck, Bone marrow hypocellularity, Thrombocytopenia, Hypoplastic left heart, Ventricular s... ORPHA:2308
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Joubert Syndrome 10
Molar tooth sign on MRI, Deep philtrum, Thick vermilion border OMIM:300804
Megalencephaly
Atrial septal defect, Macrocephaly, Deeply set eye, Truncal obesity ORPHA:2477
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Facial hypotonia, Congestive heart failure, Atrial septal defect, Failure to thrive, Polyhydramni... ORPHA:500533
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral valve calcification, Abnormality of the i... ORPHA:363618
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Frontoocular Syndrome
Hypotelorism, Atrial septal defect, Pulmonic stenosis, Micrognathia, Proptosis OMIM:605321
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Microcephal... ORPHA:290
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Atrial septal defect, Ventricular septal defect ORPHA:357225
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Hypertelorism, Patent foramen ovale, Slender build, Atrial se... ORPHA:466791
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Giant platelets, Abnormality of neutrophils, Neutropenia, Lower limb h... OMIM:169400
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Shallow orbits, Abnormal mitral valve morphology, Abnormal... ORPHA:740
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Telangiecta... ORPHA:101028
Retinitis Pigmentosa 89
Hepatosplenomegaly, Bicuspid aortic valve, Intrahepatic bile duct dilatation, Micronodular cirrho... OMIM:618955
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Bicuspid aortic valve, Anemia of inadequate pro... OMIM:614900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Abnormality of the liver, Left ventricular hypertrophy, Reduced ejection ... ORPHA:254892
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemi... ORPHA:848
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Micrognathia, Polyhydramnios, Ventricular septal... OMIM:607598
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Subvalvular aortic stenosis, Obesity, Micrognathia, Membranous subvalvular aortic ste... ORPHA:3191
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Hypertelorism, Stillbirth OMIM:263630
Oculoauriculofrontonasal Syndrome
Micrognathia, Microcephaly, Ventricular septal defect, Macrocephaly, Hypertelorism ORPHA:398156
Neurofibromatosis-Noonan Syndrome
Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hypertelorism, Abnormality of the ly... ORPHA:638
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Ede... OMIM:603552
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Failure to thrive, Splenomegaly, Macrocytic anemia OMIM:619046
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Failure to thrive, Atrial septal defect, Pulmonic stenosis OMIM:619239
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to re... OMIM:608971
Geleophysic Dysplasia 1
Camptodactyly of finger, Congestive heart failure, Tricuspid stenosis, Hepatomegaly, Mitral steno... OMIM:231050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Left ventricular hypertrophy, Orange discolored ton... ORPHA:31150
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Hypertelorism, Ventricular septal defect, Mandibular prognathia ORPHA:94066
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Failure to thrive, ... ORPHA:79303
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Slender build, Atrial septal defect, Polyhydramnios, Macrocephaly, Hypertelorism OMIM:611087
Tarp Syndrome
Tetralogy of Fallot, Atrial septal defect, Micrognathia, Failure to thrive, Hypertelorism, Extram... ORPHA:2886
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology, Anteriorly placed anus, Ethmoidal encephalo... ORPHA:280195
Mental Retardation, Buenos Aires Type
Dental malocclusion, Atrial septal defect, Carious teeth, Microcephaly, Failure to thrive, Mandib... OMIM:249630
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Trigonocephaly With Short Stature And Developmental Delay
Hypotelorism, Ventricular septal defect, Small for gestational age OMIM:314320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Atrial septal defect, Proximal muscle weakness in lower limbs, Pulmonary ar... ORPHA:280633
King-Denborough Syndrome
Minicore myopathy, Webbed neck, Type 1 muscle fiber predominance, Failure to thrive, Ventricular ... OMIM:619542
Immunodeficiency 48
Failure to thrive, Splenomegaly, Hepatomegaly OMIM:269840
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Flexion contracture, Aortic regurgitation, Hypertelorism, Delayed eruption of teeth, Tricuspid st... OMIM:143095
Noonan Syndrome 12
Polyhydramnios, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Micrognathia, Microcephaly, Ventricular septal defect, Retrognathia, Hypert... OMIM:618142
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Wolff-Parki... OMIM:619343
Potocki-Lupski Syndrome
Dental malocclusion, Patent foramen ovale, Small for gestational age, Atrial septal defect, Micro... OMIM:610883
Spondylodysplastic Ehlers-Danlos Syndrome
Proptosis, Abnormal heart valve morphology, Multiple joint contractures, Flexion contracture, Hyp... ORPHA:536471
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Myocarditis, Hepatomegaly,... ORPHA:829
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Hypoplastic left heart, Hypertelorism, Ventricular septal defect ORPHA:2772
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Vacuolated lymphocytes, Congestive heart... OMIM:230500
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Proptosis, Webbed neck, Hypertelorism, Patent foramen ovale, Atrial septal defect, Congenital dia... OMIM:245600
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Webbed neck, Ventricular septal defect, Truncus arteriosus OMIM:601355
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine level, Hypertrophi... OMIM:212140
Li-Campeau Syndrome
Atrial septal defect, Hypertelorism, Ventricular septal defect, Patent foramen ovale OMIM:619189
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormal pulmonary valve morphology, Deeply set eye, Aortic regurgitation, Small for gestational ... ORPHA:268261
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmo... ORPHA:3304
Hemochromatosis, Type 3
Neutropenia, Anemia, Cardiomyopathy, Cirrhosis, Lymphopenia OMIM:604250
Apparent Mineralocorticoid Excess
Failure to thrive, Left ventricular hypertrophy, Hypertension ORPHA:320
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal heart morpho... ORPHA:2847
Lambotte Syndrome
Microcephaly, Hypertelorism, Ventricular septal defect, Retrognathia OMIM:245552
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Flexion contracture, Small for gestational age, Hydrops fetalis, Hypertrophic cardio... OMIM:616897
Atrial Septal Defect 6
Bradycardia, Atrial septal defect, Atrial fibrillation OMIM:613087
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Pleural effusion,... OMIM:235200
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Micrognathia, Truncus arteriosus OMIM:228940
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Deeply set eye, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ventricular ... ORPHA:284169
Bardet-Biedl Syndrome 1
Obesity, Truncal obesity, Hypertension, Biliary tract abnormality, Abdominal obesity, Macrocephal... OMIM:209900
Intellectual Developmental Disorder, X-Linked 106
Microcephaly, Hypertelorism, Bicuspid aortic valve OMIM:300997
Singleton-Merten Syndrome 1
Decreased body weight, Congestive heart failure, Subvalvular aortic stenosis, Tendon rupture, Mus... OMIM:182250
Chromosome 14Q11-Q22 Deletion Syndrome
Deeply set eye, Patent foramen ovale, Micrognathia, Microcephaly, Failure to thrive, Ventricular ... OMIM:613457
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Hypertension, Cerebral hemorrhage, Cardiomegaly, Congenital ... OMIM:618886
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Micrognathia, Microcephaly, Heart bloc... ORPHA:1964
Robinow Syndrome, Autosomal Recessive 2
Hypertelorism, Relative macrocephaly, Micrognathia, Bicuspid aortic valve, Camptodactyly, Proptosis OMIM:618529
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Failure to ... OMIM:618963
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Cleft upper lip, Molar tooth sign on MRI, C... OMIM:277170
Marden-Walker Syndrome
Narrow mouth, High palate, Long philtrum, Intrauterine growth retardation, Decreased muscle mass,... OMIM:248700
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Cleft palate OMIM:614120
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Hypotelorism, Decreased body weight, Micrognathia, Microcephaly, Failure to thrive, Ventricular s... OMIM:617164
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Shock, Peritonitis, Hypotension, Neutropenia, Abnormal h... ORPHA:391673
Noonan Syndrome 4
Large for gestational age, Webbed neck, Dental malocclusion, Atrial septal defect, Hypertrophic c... OMIM:610733
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Deeply set eye, Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Double outlet ri... OMIM:618316
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Deeply set eye, Dental malocclusion, Atrial septal defect, Left-to-right shunt, Muscular ventricu... ORPHA:363444
Noonan Syndrome 6
Webbed neck, Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Pulmonic stenosis, Po... OMIM:613224
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis OMIM:615482
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Abnormal pericardium morphology, Congestive heart failur... ORPHA:67
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Cleft palate OMIM:614175
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Charge Syndrome
Overriding aorta, Webbed neck, Tetralogy of Fallot, Atrial septal defect, Dysplastic tricuspid va... OMIM:214800
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Ventricular septal defect, H... OMIM:608406
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Tetralogy of Fallot, Intrauterine growth retardatio... ORPHA:356961
Leigh Syndrome With Leukodystrophy
Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Enamel hypoplasia, Atrial septal defect, Patent ductus arteriosus, Spl... OMIM:614576
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Ventricular septal defect, Macrocephaly,... ORPHA:2143
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Micrognathia, Neutropenia, Anemia, Pulmonary arterial hypertension, Hyperte... OMIM:614857
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ve... OMIM:619051
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Camptodactyly, Ventricular septal defect OMIM:613458
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Hypertelorism, Ventricular septal defect, Micrognathia ORPHA:2256
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Obesity, Carious teeth, Supernumerary tooth, Pulmonic stenosis, Natal tooth... ORPHA:353281
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Decreased body weight, Flexion ... OMIM:300166
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Obesity, Deeply set eye, Arrhythmia OMIM:600430
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hypertelorism, Progressive macrocephaly, Ventricular septal defect OMIM:602501
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Failure to thrive, L... OMIM:617514
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Myocarditis, Splenomegaly, Hepatomegaly, Periorbital edema,... ORPHA:3386
Syndromic Diarrhea
Tetralogy of Fallot, Hepatoblastoma, Abnormality of the liver, Aortic regurgitation, Small for ge... ORPHA:84064
Systemic Capillary Leak Syndrome
Leukocytosis, Arrhythmia, Myocarditis, Hypotension, Pleural effusion, Pancreatitis, Pedal edema, ... ORPHA:188
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Subvalvular aortic stenosis, Increased variability in muscle fiber diameter, Ankle flexion contra... OMIM:619461
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Micrognathia, Microcephaly, Ventricular septal defect,... ORPHA:1913
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Splenomegaly, Hepatomegaly, Pleural effusion, Generalized lymphadenopathy, Pulmonar... OMIM:181000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Micrognathia, Microcephaly, Anemia, Polyhydramnios, Ascites, Oligohydramnios ORPHA:1046
Cardiofacioneurodevelopmental Syndrome
Hypotelorism, Hypertelorism, Pulmonic stenosis, Micrognathia, Microcephaly, Abdominal situs inver... OMIM:619123
Mandibuloacral Dysplasia Progeroid Syndrome
Macrovesicular hepatic steatosis, Flexion contracture, Patent foramen ovale, Shallow orbits, Hepa... OMIM:619127
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Micrognathia, Microcephaly, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Atrial septal defect, Microcephaly, Failure to thrive, Bicuspid aortic valv... ORPHA:329224
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Congenital Disorder Of Glycosylation, Type Ie
Hypertelorism, Patent ductus arteriosus, Muscular dystrophy, Splenomegaly, Hepatomegaly, Ankle fl... OMIM:608799
Diamond-Blackfan Anemia 5
Leukopenia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia, Hypertelorism, Eryth... OMIM:612528
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Insulin-Like Growth Factor I, Resistance To
Deeply set eye, Webbed neck, Decreased body weight, Patent foramen ovale, Atrial septal defect, M... OMIM:270450
Kagami-Ogata Syndrome
Flexion contracture, Diastasis recti, Patent ductus arteriosus, Atrial septal defect, Splenomegal... OMIM:608149