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Genes Phenotypes Help, News, Blog

Gene: Hey2 MGI:1341884

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hairy/enhancer-of-split related with YRPW motif 2
Synonyms:
bHLHb32,  CHF1,  Herp1,  Hesr2,  Hrt2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hey2 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 Hey2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387

The table below shows human diseases predicted to be associated to Hey2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Reduced left ventricul... OMIM:620236
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Lef... ORPHA:75249
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal le... ORPHA:2041
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, A... ORPHA:228410
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c... OMIM:619433
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp... OMIM:615779
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Geleophysic Dysplasia 2
Hepatomegaly, Short stature, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse... OMIM:614185
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Weill-Marchesani Syndrome
Ventricular septal defect, Short stature, Mitral regurgitation, Pulmonic stenosis, Aortic valve s... ORPHA:3449
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase con... OMIM:619048
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... OMIM:616501
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal lung lo... ORPHA:1120
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... OMIM:619170
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Dysplastic tricuspid... OMIM:612863
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... OMIM:619167
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis, Short stature DECIPHER:3
Noonan Syndrome 8
Ventricular septal defect, Short stature, Polyhydramnios, Pleural effusion, Mitral regurgitation,... OMIM:615355
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Myofibrillar myopathy, Reduced forced vital capacity, Respiratory... OMIM:612954
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... ORPHA:980
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Intrau... OMIM:616276
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... ORPHA:97287
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchie... OMIM:620233
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... ORPHA:330001
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Geleophysic Dysplasia 1
Hepatomegaly, Short stature, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failur... OMIM:231050
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Short stature ORPHA:2871
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Mitral valve prola... ORPHA:555877
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... ORPHA:100078
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ... ORPHA:363705
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib... OMIM:255160
Myopathy, Myofibrillar, 1
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... OMIM:601419
Nephronophthisis 16
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615382
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Short stature OMIM:252605
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Right ventricular failur... ORPHA:324604
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Mitral... OMIM:606631
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal he... ORPHA:2257
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... OMIM:615959
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... OMIM:615415
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Mitral valve prolapse, Growth... OMIM:612561
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature, Facial palsy, Polyhydramnios, Respiratory insufficiency due ... OMIM:300580
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Short stature, Pulmonic stenosis OMIM:614819
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Chronic pulmonary obstruction, Bicuspid aortic valve, Spontaneous pneumothorax OMIM:619825
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary interstitial mo... OMIM:230800
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Respiratory insuf... ORPHA:746
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect, Polyhydramnios, Oligohydramnios OMIM:615476
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Sonoda Syndrome
Ventricular septal defect, Short stature OMIM:270460
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology ORPHA:98892
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho... ORPHA:1937
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... OMIM:601927
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Pleural effusion, H... ORPHA:188
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100080
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Short stature, Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopat... ORPHA:88630
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Situs inversus totalis OMIM:609008
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Short stature, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular ... ORPHA:401923
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Short stature, Neonatal res... OMIM:618870
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula... OMIM:601005
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ... OMIM:620300
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis, Hypoperista... OMIM:611376
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal h... ORPHA:2847
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine... OMIM:615440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Short stature, Secundum atrial septal defect, Congenital lobar overinf... OMIM:600987
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Intrauterine growth... OMIM:614702
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Restrictive ... ORPHA:369840
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ede... ORPHA:81
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function, Paroxysmal dyspnea, Exert... ORPHA:229
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100082
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyo... OMIM:618815
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Apnea, Inspiratory stridor OMIM:600721
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pu... ORPHA:199241
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Sh... ORPHA:7
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Ascites, Mitral regurgitation, Camp... ORPHA:2848
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... OMIM:258450
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Bradycardia, Left ventricular hypertrophy, Intrauterine growth retarda... OMIM:614654
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Mucolipidosis Type Ii
Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheeks, Short stature, Hepa... ORPHA:576
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short stature, Increased nuchal translucency, Mitral ... OMIM:616564
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Short stature, Congestive heart failure, Dilated cardiomyopathy, Heart murm... ORPHA:2326
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... OMIM:620306
Feingold Syndrome Type 1
Short stature, Tricuspid stenosis, Multiple muscular ventricular septal defects, Abnormal heart m... ORPHA:391641
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Short stature, Secundum atrial septal defect... ORPHA:1600
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Short stature, Flexion contracture, Growth delay, Pulmonic stenosis, Aor... ORPHA:75496
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Flexion contracture, Hypertension, Pulmonary ... OMIM:616733
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Asthma, Heart murmur, Palpitatio... ORPHA:100079
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple... ORPHA:210122
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Severe short stature, Mitral valve prolapse ORPHA:3238
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... OMIM:540000
Congenital Myopathy 15
Tricuspid regurgitation, Polyhydramnios, Fatty replacement of skeletal muscle, Reduced forced vit... OMIM:620161
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Disproportionate short-trunk short stature, Le... OMIM:619698
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Short stature, Elevated circulating aspartate aminotransfe... OMIM:608779
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis OMIM:220220
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Perimembranous ventricular septal defect, Transposition of the great arteries, Pul... OMIM:617877
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail... ORPHA:1194
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Respiratory insufficiency, Intrauterine... OMIM:619909
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Ventricular septal defect, Truncus arteriosus, Con... OMIM:609029
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Scimitar Syndrome
Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ... ORPHA:185
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent respiratory infections, Cor triatriatum, Secundum atrial septal defect, S... OMIM:612541
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Short stature, Rhizomelia, Abnormal lung lobatio... OMIM:614114
Mogs-Cdg
Respiratory distress, Hepatomegaly, Generalized edema, Hypoventilation, Apnea, Edema, Cardiomegal... ORPHA:79330
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... ORPHA:90308
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of... ORPHA:97214
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... ORPHA:49827
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Cholestasis, He... OMIM:267010
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulm... OMIM:202650
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Restrictive ventilatory d... ORPHA:369847
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... OMIM:617744
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Incr... ORPHA:70591
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Hepatic cysts, Mitral valve prolapse OMIM:173900
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Short stature, Pulmonic stenosis OMIM:615802
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:600001
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Polysp... OMIM:164280
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit... OMIM:121050
Singleton-Merten Syndrome 2
Aortic valve calcification, Arrhythmia, Aortic valve stenosis, Short stature OMIM:616298
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Growth delay, Hypertension, Hepa... OMIM:619758
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops... OMIM:253250
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... OMIM:602390
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral stenosis OMIM:617660
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function OMIM:132900
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly... OMIM:212138
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:614326
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Proportionate short stature, Supraventricular tachycardia with an access... ORPHA:404443
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse ORPHA:309155
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... OMIM:603387
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Small the... OMIM:105650
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100075
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Short stature, Polyhydramnios, Mitral valve prolapse, Pul... OMIM:619745
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy, Intrauterine growth retardation, Hepatic steatosis ORPHA:26792
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Meckel Syndrome 14
Tricuspid regurgitation, Increased nuchal translucency, Pneumothorax, Oligohydramnios, Cardioresp... OMIM:619879
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Double outlet right ventricle, Supravalvar pulmona... OMIM:618164
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Fl... ORPHA:284979
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Nonim... ORPHA:367
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Polyhydramnios ORPHA:96190
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Increased variability in muscle fiber diamete... OMIM:620265
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Aortic valve stenosis, Bicuspid aortic valve, Short stature OMIM:243310
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Cholestasis, Perimembranous ventricular septal defect, Decreased liver funct... OMIM:608104
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Ascites OMIM:269920
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Shor... OMIM:601808
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy, Growth delay OMIM:619121
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... OMIM:613561
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
Emanuel Syndrome
Recurrent respiratory infections, Multiple joint contractures, Ventricular septal defect, Truncus... ORPHA:96170
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Hypopl... ORPHA:79328
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... OMIM:617021
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... OMIM:193400
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly... OMIM:235200
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... OMIM:613313
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Short stature, Pneumonia, Splenomegaly, Recurrent upper re... OMIM:253200
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Short stature, Camptodactyly ORPHA:459061
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Conot... ORPHA:2306
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Growth delay, Macroglossia, Abnormal cardiac septum mor... ORPHA:96147
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly OMIM:301039
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ... ORPHA:324
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocardi... ORPHA:1054
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension... ORPHA:1349
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent... OMIM:601186
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic... OMIM:300855
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy, Intrauterine growth retardation OMIM:620145
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... ORPHA:206569
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insufficiency due to mu... OMIM:310200
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi... ORPHA:251071
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... ORPHA:70
Dk1-Cdg
Elevated hepatic transaminase, Short stature, Congestive heart failure, Dilated cardiomyopathy, C... ORPHA:91131
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale OMIM:619967
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Short statu... ORPHA:84064
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal heart morphology, Respiratory failure, Decreased liver functio... ORPHA:70472
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Recurrent upper respiratory tract infections, Disproportionate short-trunk short st... OMIM:253010
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep... ORPHA:1909
Myopathy, Myofibrillar, 8
Scapular winging, Reduced vital capacity, Centrally nucleated skeletal muscle fibers, Achilles te... OMIM:617258
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Trisomy 17P
Skeletal muscle atrophy, Short stature, Flexion contracture, Growth delay, Macroglossia, Hypoplas... ORPHA:261290
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia OMIM:618929
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Short stature, Polyhydramnios, Lymphedema, Postnatal growth retardation, S... OMIM:613563
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... OMIM:205400
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Short stature, Splenomegaly... OMIM:607014
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Pulmonary h... OMIM:617022
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections OMIM:620194
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Congenital diaphragmatic hernia, Pulmonary artery ... OMIM:208050
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Asthma, Heart ... ORPHA:100093
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s... OMIM:620351
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Postnatal growth retardation OMIM:620242
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Respiratory failure, Perimembranous ventricular septal defect... OMIM:618804
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Weill-Marchesani Syndrome 1
Short stature, Ventricular septal defect, Proportionate short stature, Mitral regurgitation, Pulm... OMIM:277600
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Noonan Syndrome 3
Ventricular septal defect, Short stature, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosi... OMIM:609942
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Short stature, Camptodactyl... OMIM:607015
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Short stature, Apnea, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal tr... ORPHA:1052
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... ORPHA:500533
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Short stature OMIM:620072
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... ORPHA:217563
Noonan Syndrome 13
Atrial septal defect, Lymphedema, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Dysp... ORPHA:3386
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe... ORPHA:466677
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy... OMIM:613404
Feingold Syndrome Type 2
Ventricular septal defect, Short stature ORPHA:391646
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, Limb hypertonia, Atrial septa... OMIM:620070
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pl... ORPHA:542323
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Oligomeganephronia
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehyd... ORPHA:2260
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Right bundle b... OMIM:617506
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Short stature, Mitral atresia, Pulmonary artery stenosis, Abnormal cardiac ... ORPHA:140952
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ... OMIM:618109
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... OMIM:619461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr... OMIM:613156
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car... ORPHA:2712
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Intrauterine growth retardation, Increased nuchal translucency OMIM:620183
Sandhoff Disease
Splenomegaly, Congestive heart failure, Recurrent respiratory infections, Hepatomegaly ORPHA:796
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Short stature, Polyhydramnios, Spl... OMIM:222470
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Mitral valve prolapse, Hypertension, ... OMIM:611962
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hepatomegaly, Intrahepatic biliary dysgenesis, Tricuspid regurgitation, Ven... OMIM:614866
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ge... ORPHA:52430
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Anauxetic Dysplasia 1
Hip contracture, Severe short stature, Rhizomelia, Elbow flexion contracture, Macroglossia, Intra... OMIM:607095
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Short stature, Pneumothorax, Mitral valve prolapse... OMIM:617402
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgita... ORPHA:1101
Marfan Syndrome
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... OMIM:154700
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Congestive heart failure, R... ORPHA:508542
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... OMIM:208085
Necrotizing Enterocolitis
Shock, Apnea, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Ascites ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Splenomegal... ORPHA:77260
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... OMIM:615418
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... OMIM:618282
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Proportionate short ... ORPHA:3208
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus,... OMIM:608149
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak... OMIM:606842
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Recurrent bronchitis, Diastasis recti, Cardi... OMIM:252500
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Neonatal respiratory distress, Subvalvular aortic stenosis OMIM:250951
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short stature, Campt... OMIM:616894
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature ORPHA:2515
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic... OMIM:263520
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery st... ORPHA:96167
Cap Myopathy
Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal muscle fiber morpholog... ORPHA:171881
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Atrial septal defect... OMIM:620244
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Stiff Skin Syndrome
Short stature, Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture, Campto... OMIM:184900
Gms Syndrome
Tricuspid regurgitation, Short stature, Respiratory insufficiency ORPHA:2090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Congestive heart failure, Sp... OMIM:230500
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect OMIM:615731
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Increased hepatocellular lipid droplets, Microvesicular he... OMIM:220111
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Pulmonic stenosis... OMIM:607721
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... ORPHA:261330
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Nestor-Guillermo Progeria Syndrome
Short stature, Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, ... OMIM:614008
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variab... OMIM:604377
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... ORPHA:99931
Weill-Marchesani Syndrome 2
Ventricular septal defect, Short stature, Proportionate short stature, Congestive heart failure, ... OMIM:608328
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... OMIM:618955
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... ORPHA:117
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short stature OMIM:113301
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Lung abscess, Liver abscess, Abnormal pericardium morphology, Cong... ORPHA:67
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... ORPHA:132
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Severe short stature, Congenital diaphragmatic her... ORPHA:2556
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Acute pan... ORPHA:26791
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal ... ORPHA:52
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Hepatosplenomegaly, Atrial septa... ORPHA:101028
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnor... ORPHA:2357
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... ORPHA:163596
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Pneumothorax, Mitral valve prolap... OMIM:601776
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Congestive he... OMIM:309900
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Severe short stature, Facial palsy ORPHA:2780
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Growth delay, Short stature ORPHA:52056
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art... ORPHA:261494
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve OMIM:618845
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:300998
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology, Short stature ORPHA:2374
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Abnormal pleura morphology, Portal hypertension, Nodular regenerat... ORPHA:210136
Subaortic Stenosis-Short Stature Syndrome
Short stature, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Respiratory ins... ORPHA:3191
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... OMIM:614653
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Dehydration, Cardiomyopathy, Pancreatitis ORPHA:79312
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic stenosis, Facial te... OMIM:620141
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Neonata... OMIM:608978
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... OMIM:158170
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Birth... ORPHA:464311
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat... OMIM:602782
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Mitral regurgitation OMIM:619750
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... OMIM:619991
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Macroglossia, Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, Abnormal heart morphology,... ORPHA:500159
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat... ORPHA:465508
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Short stature, Cardiomegaly, Facial edema, Splenomegaly, H... OMIM:256550
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Short stature, Pulmonic stenosis OMIM:601321
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Camptodactyly of finger OMIM:619951
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Short stature, Right bundle branch block, Growth delay, Mitral regurgita... OMIM:619576
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Stillbirth, Camp... OMIM:619751
16P12.1P12.3 Triplication Syndrome
Tachycardia, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tric... ORPHA:485405
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate... OMIM:611126
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin... OMIM:614921
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Dextrocardia, Respiratory insufficiency, Abnormal tricuspi... ORPHA:1759
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis ORPHA:436003
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, Ca... OMIM:249420
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Short stature, Camptodactyly OMIM:272950
Reactive Arthritis
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Joint ... ORPHA:29207
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Macroglossia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Muscular ventricular s... OMIM:157800
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,... OMIM:142900
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Short stature OMIM:617450
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptodactyly, Joint con... OMIM:211960
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Shprintzen-Goldberg Syndrome
Apnea, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mitral valv... ORPHA:2462
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency... ORPHA:157973
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Tachypnea, Hep... OMIM:201475
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Short stature, Growth delay, ... OMIM:615582
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... ORPHA:1926
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Postnatal growth retardation, Congestive heart failure, Dilatation of the v... ORPHA:90348
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, Intrauterine growth retard... OMIM:617751
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Mitral valve prolapse, Hematochezia, Telangiecta... OMIM:175050
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Short stature, Cardiomegaly, Conges... OMIM:182250
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Short stature, Splenomegaly, Achilles tendon contracture, Recurrent upper respirato... OMIM:252940
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect OMIM:614876
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis... ORPHA:42
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Respiratory distress, Crackles, Facial edema, Myocarditis, ... ORPHA:319213
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Elevated hepatic transaminase, Cardiomegaly OMIM:619064
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Short stature, Apne... ORPHA:579
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... OMIM:614299
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... OMIM:208000
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Short stature, Dilated cardiomyopathy, Arrhythmia, Hypertroph... ORPHA:254913
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ... ORPHA:79083
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri... OMIM:252011
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ... ORPHA:2348
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hy... OMIM:615524
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Short stature, Intr... ORPHA:464306
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Short stature, Hypoplasia o... OMIM:612289
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth retardation... OMIM:613355
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Mac... ORPHA:261337
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale OMIM:616867
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Intrauterine growth retardat... ORPHA:858
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... OMIM:619259
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Torticollis, Facial hypotonia, Polyhydram... OMIM:618371
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Pancreatic And Cerebellar Agenesis
Apnea, Secundum atrial septal defect, Flexion contracture, Severe intrauterine growth retardation... OMIM:609069
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Intrauterine growth retardation OMIM:301021
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Hypertrophic cardiomyopathy, Respiratory failure, Nocturnal hypoventil... OMIM:620326
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion contracture, Brad... OMIM:610015
Progeroid Short Stature With Pigmented Nevi
Bicuspid aortic valve, Allergic rhinitis, Short stature, Delayed puberty, Aortic valve stenosis OMIM:176690
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Cardiomyopathy ORPHA:63273
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Mitral regurgitation, Patent foramen ovale OMIM:225250
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho... ORPHA:536471
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Pu... OMIM:300887
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Short stature, Intrauterine growth retardation, Joint contracture, Paten... OMIM:618460
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v... ORPHA:163956
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Growth delay ORPHA:1439
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic... OMIM:613177
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Luo-Schoch-Yamamoto Syndrome
Intrauterine growth retardation, Tricuspid regurgitation, Oligohydramnios OMIM:619460
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Bardet-Biedl Syndrome 3
Tricuspid regurgitation OMIM:600151
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... OMIM:618316
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Peters Plus Syndrome
Short stature, Rhizomelia, Polyhydramnios, Postnatal growth retardation, Bicuspid pulmonary valve... ORPHA:709
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the limbs, Lymphedema, Hi... ORPHA:137667
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse ORPHA:230839
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, S... OMIM:617303
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... ORPHA:3071
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... OMIM:253800
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypotension OMIM:615668
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Short statu... ORPHA:354
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Generalized muscle hypertrophy, R... OMIM:139210
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, P... OMIM:301056
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Short stature, Patent foramen o... OMIM:618027
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Delayed mena... ORPHA:740
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Mosaic Trisomy 20
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... ORPHA:1724
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... OMIM:252920
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Short stature, Foot joint contracture OMIM:619641
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Hy... OMIM:616897
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Bohring-Opitz Syndrome
Recurrent respiratory infections, Facial hypotonia, Short stature, Apnea, Cardiomegaly, Bilateral... ORPHA:97297
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia ORPHA:871
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Atrial septal d... OMIM:249270
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short stature, Mitral valve prolapse ORPHA:2233
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cardiomyopathy, Hepatic steatosis OMIM:610717
Babesiosis
Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Recurrent pharyngiti... ORPHA:108
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Perimembranous ventricular sept... OMIM:618651
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Erdheim-Chester Disease
Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Dyspnea, Abn... ORPHA:35687
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Hepatomegaly... ORPHA:365
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Dilated cardiomyopathy, Bradycardia OMIM:610768
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Sh... OMIM:617140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353281
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Short... ORPHA:955
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Short stature OMIM:619318
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Congestive heart failure, Left ventricular hypertrophy, Intrauteri... OMIM:619355
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmo... OMIM:245150
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Increased muscle lipid content, Abnormality... ORPHA:565612
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Mitral valve prolapse ORPHA:2183
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Mend Syndrome
Limb hypertonia, Aortic valve stenosis, Short stature, Abnormal heart morphology ORPHA:401973
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Flexion contracture, Atrial... OMIM:619383
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Melnick-Needles Syndrome
Recurrent respiratory infections, Mitral valve prolapse, Stillbirth, Tricuspid valve prolapse, Pu... OMIM:309350
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Respiratory distress, Abnormal heart v... ORPHA:781
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Facial palsy, Po... ORPHA:261349
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly OMIM:607685
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Congenital Enterovirus Infection
Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis... ORPHA:292
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Short stature OMIM:619721
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prol... ORPHA:363700
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Short stature, Camptodactyly of finger, Intrauterine growth retardation,... ORPHA:261211
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Ovarian Hyperstimulation Syndrome
Generalized edema, Enlarged polycystic ovaries, Hypovolemia, Capillary leak, Peripheral edema, Pl... ORPHA:64739
7Q11.23 Microduplication Syndrome
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Growth... ORPHA:96121
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Intrauterine growth retardation OMIM:616647
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... OMIM:201000
Congenital Generalized Lipodystrophy
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Hyp... ORPHA:528
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology OMIM:618494
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Short stature, Annular pancreas, Gro... ORPHA:2308
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary arterial hypertension, Intrauteri... OMIM:619003
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... ORPHA:70588
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Short stature, Congestive ... OMIM:203800
Cutis Laxa, Autosomal Dominant 2
Mitral regurgitation OMIM:614434
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Respiratory insufficiency, Severe sho... ORPHA:1842
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Short sta... OMIM:616651
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Respiratory insufficienc... OMIM:615084
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Hypertrophic cardiomyopathy OMIM:620270
Glycogen Storage Disease Iii
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Short stature, Cardiomyopat... OMIM:232400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Hemorrhagic Fever-Renal Syndrome
Shock, Elevated hepatic transaminase, Tachycardia, Respiratory distress, Epistaxis, Pneumonia, He... ORPHA:340
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Camptodactyly, Ankle flexion contracture, Knee flexion contracture ORPHA:435938
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Em... ORPHA:36412
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Okamoto Syndrome
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... ORPHA:2729
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morphology, Abnormal... ORPHA:1666
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper... ORPHA:60032
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormality of the liver ORPHA:391457
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Recurrent pneumonia, Cardiomegaly ORPHA:3137
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Cardiomegaly, Postnatal growth retardation, Tachypnea, Hypertension, Pulmonary art... OMIM:613320
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ... ORPHA:1900
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Growth delay, Mitral stenosis, Oligohydramnios ORPHA:96201
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect, Short stature ORPHA:261295
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Short statu... ORPHA:268261
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... ORPHA:284984
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... ORPHA:91139
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Rhinitis, Splenomegaly ORPHA:93474
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension OMIM:618886
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic r... ORPHA:280633
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Lymphedema-Hypoparathyroidism Syndrome
Short stature, Lymphedema, Pulmonary lymphangiectasia, Mitral valve prolapse, Restrictive ventila... OMIM:247410
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery s... OMIM:280000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial infarction OMIM:615703
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Postnatal growth retardation, Growth delay, Macroglossia, Perimembrano... OMIM:301040
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Facial diplegia, Left v... ORPHA:31150
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo... ORPHA:3260
Maternal Uniparental Disomy Of Chromosome X
Short stature, Camptodactyly of finger, Predominantly lower limb lymphedema, Congestive heart fai... ORPHA:261519
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, S... OMIM:615895
Geleophysic Dysplasia 3
Hepatomegaly, Short stature, Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respirator... OMIM:617809
Distal Myopathy, Welander Type
Cardiomyopathy ORPHA:603
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Pancreatitis OMIM:251000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Primary Effusion Lymphoma
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion, Dyspnea ORPHA:48686
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Congestive hear... ORPHA:454836
Idiopathic Congenital Hypothyroidism
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... OMIM:270100
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension, Stroke ORPHA:320
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func... OMIM:616299
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ... ORPHA:3099
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas... ORPHA:902
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly, Intrauterine growth retardation OMIM:608540
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hand muscle weakness, Fatty replaceme... ORPHA:98908
Cednik Syndrome
Congestive heart failure, Short stature ORPHA:66631
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Growth dela... ORPHA:369
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short stature, Subvalvular aortic stenosis OMIM:600430
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Congenital Myopathy 12
Pulmonary artery stenosis, Jaw contracture, Joint contracture of the hand, Camptodactyly OMIM:612540
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitr... OMIM:271640
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary a... OMIM:619575
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re... ORPHA:254864
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Atypical Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Short stature, Congestive heart failure, Aor... ORPHA:79474
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Asthma, Telangiect... OMIM:606003
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Camptodactyly of finger, Tracheomalacia ORPHA:896
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Respiratory f... ORPHA:158687
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Mitral regurgitation, Patent foramen ovale, Short stature, Disproportionate short-trunk short sta... ORPHA:457395
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o... ORPHA:423
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... ORPHA:258
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Short stature, Flexion contracture, Double outlet right ... OMIM:300166
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Aspiration pneumonia ORPHA:79264
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Growth delay, Short stature OMIM:620211
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Tendon xanthomatosis, Hear... ORPHA:391665
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... OMIM:214800
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Short stature, Double out... ORPHA:1596
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Hematemesis, Splenomegaly, Patent d... OMIM:301068
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Short stature, Postnat... OMIM:620210
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension, Intrauterine growth retardation OMIM:616045
Alg12-Cdg
Recurrent respiratory infections, Recurrent pharyngitis, Muscular ventricular septal defect, Pate... ORPHA:79324
Mitochondrial Complex I Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypertrophic cardiomyopathy OMIM:618243
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... OMIM:619472
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Diamond-Blackfan Anemia 4
Atrial septal defect, Growth delay, Short stature OMIM:612527
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353277
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... ORPHA:276556
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Short stature, Facial palsy, Heart murmur, Mitral valve prolaps... OMIM:615873
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Dilated card... ORPHA:352447
Fumarase Deficiency
Polyhydramnios, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hepatic failu... OMIM:606812
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Vascular dilatation OMIM:618343
Developmental And Speech Delay Due To Sox5 Deficiency
Mitral regurgitation ORPHA:313892
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, Ventricular septal defect, Short stature ORPHA:3369
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th fi... ORPHA:352490
Noonan Syndrome
Hepatomegaly, Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Aplasia/Hypoplasia ... ORPHA:648
Martsolf Syndrome 1
Recurrent respiratory infections, Short stature, Cardiac arrest, Congestive heart failure, Cardio... OMIM:212720
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Apnea, Bradycardia, Limb hypertonia OMIM:614498
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circu... OMIM:608836
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... ORPHA:314655
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Al Amyloidosis
Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal EKG, Hepatomegaly, Dyspnea, J... ORPHA:85443
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Severe short stature, Elevated circulating aspartate... OMIM:617253
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, Polysplenia OMIM:612776
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Pneumothorax, Mitral valve prolapse, Emphysema OMIM:614816
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... ORPHA:276575
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... OMIM:616777
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Watson Syndrome
Pulmonic stenosis OMIM:193520
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... OMIM:220110
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Abnormal pulmonary valve morphology, Splenomegaly... ORPHA:667
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Respiratory dis... ORPHA:2519
Squalene Synthase Deficiency
Elbow flexion contracture, Intrauterine growth retardation, Bicuspid aortic valve, Knee flexion c... OMIM:618156
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Decreased hepatic echogenicity, Elevated circulating alanine aminotransferase con... OMIM:613752
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Recurrent upper respiratory tr... ORPHA:264450
Mend Syndrome
Aortic valve stenosis, Short stature OMIM:300960
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Recu... ORPHA:79329
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Ventricular septal defect, Short stature, Polyhydramnios,... OMIM:180849
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Postnatal growth retardation, Contracture of the distal inter... ORPHA:83617
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Tricuspid regurgitation ORPHA:228396
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Neonatal respiratory distress, Short statu... ORPHA:666
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Intrauterine growth retardation, Postnatal growth retardation OMIM:616603
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Small thenar eminence, Pulmonary hypoplasia, Pulmonic stenosis, Camptod... OMIM:619148
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... OMIM:610443
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora... OMIM:612582
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Irregular respiration, Facial palsy, Elbow flexion... ORPHA:79139
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Dental Anomalies And Short Stature
Short stature, Mitral valve prolapse OMIM:601216
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... ORPHA:280365
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Apnea, Limb joint contracture, Bradycardia OMIM:619814
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... ORPHA:276580
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... OMIM:618223
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Megalencephaly
Atrial septal defect ORPHA:2477
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Short stature, Respiratory distress OMIM:615993
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Elevated ... OMIM:300972
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, High-output... ORPHA:231226
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Short stature, Splenomegaly, Cardiomyopathy ORPHA:93476
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... OMIM:612474
Hellp Syndrome
Elevated hepatic transaminase, Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effus... ORPHA:244242
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint swelling, Mitral regurgit... ORPHA:287
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Perito... ORPHA:727
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomyopathy OMIM:618237
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Myositis, Sinusitis, Pneumonia, Edema, Respiratory trac... ORPHA:36234
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... OMIM:300963
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Cardioresp... ORPHA:31824
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Growth delay, Bradycardia, Pulmonary arterial hype... OMIM:619272
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly OMIM:616145
15Q Overgrowth Syndrome
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Mit... ORPHA:314585
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicu... OMIM:619475
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Lambert Syndrome
Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Hypertrophic cardiomyopathy OMIM:617184
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hypertrophic cardiomyopathy ORPHA:295
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Facial hypotonia, Pneumonia, Hepatosplenomegaly, Macroglossia, Mitral regur... ORPHA:309282
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Short stature ORPHA:93946
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... ORPHA:36238
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma ORPHA:141179
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Carney Complex, Type 1
Congestive heart failure, Cardiac myxoma OMIM:160980
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... ORPHA:178320
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Short stature, Flexion con... OMIM:194050
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse ORPHA:98
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Respiratory insufficiency, Disproportionate short-... ORPHA:2655
Ctcf-Related Neurodevelopmental Disorder
Mitral regurgitation, Joint contracture of the 5th finger, Prolonged neonatal jaundice, Atrial se... ORPHA:363611
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Fragile X Syndrome
Sinusitis, Mitral valve prolapse ORPHA:908
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma ORPHA:141184
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect OMIM:613730
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Elevated he... ORPHA:537
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Generalized muscle h... OMIM:235730
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale OMIM:620327
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Vici Syndrome
Recurrent respiratory infections, Postnatal growth retardation, Congestive heart failure, Dilated... OMIM:242840
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis, Camptodactyly OMIM:616737
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy ORPHA:868
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, High-output... ORPHA:231214
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr... ORPHA:31204
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Disproportion... ORPHA:2772
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Lower... ORPHA:459070
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Polyhydramnios, Myopathy, Mitral regurgitation,... OMIM:614557
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Congestive ... ORPHA:3309
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Decreased liver function, Episodic tachypnea, Elevated hepatic transaminase OMIM:615160
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Skeletal muscle at... ORPHA:17
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Growth delay, Stridor, Bronchospasm, Bradycardia, Abnormal patte... OMIM:608800
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Joint... OMIM:617403
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Flexion contracture, Bicuspid aortic valve OMIM:619720
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Spl... OMIM:608799
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Edema, Splenomegaly, Jaundice, Dyspnea... ORPHA:90051
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Knee flexion contracture, Transpos... OMIM:614976
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Abnormal cardiac septum morp... OMIM:217980
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Hypert... OMIM:619487
Thanatophoric Dysplasia Type 2
Short stature, Polyhydramnios, Increased nuchal translucency, Respiratory insufficiency, Aplasia/... ORPHA:93274
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature... ORPHA:580
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Dehydratio... ORPHA:79404
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Short stature OMIM:614900
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia of... ORPHA:2970
Brittle Cornea Syndrome
Camptodactyly, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Short stature, Postnatal growth retardation, Camptodactyly, Left ventricular hypertro... OMIM:611209
Familial Thyroid Dyshormonogenesis
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Short stature OMIM:252600
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis, Myocardial infarction, Mitral valve prolapse OMIM:236200
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Pulmonary Arteriovenous Malformation
Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart... ORPHA:2038
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... ORPHA:99827
Atelis Syndrome 2
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis OMIM:606069
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splen... ORPHA:525731
Cerebrofacioarticular Syndrome
Camptodactyly, Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh... ORPHA:217085
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Quadricuspid aortic valve, Muscle fiber splitting, Mitral valve prolapse OMIM:606408
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Epistaxis ORPHA:293939
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress, Short stature OMIM:610536
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Short stature OMIM:314320
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Myocarditis, Congestive heart failu... ORPHA:533
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... OMIM:177850
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... OMIM:301022
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh... ORPHA:217093
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Immunodeficiency 49
Pulmonary artery stenosis OMIM:617237
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Apnea, Bradycardia OMIM:208155
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Hepatic calcification, Ca... ORPHA:228308
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, ... OMIM:616271
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar... ORPHA:506358
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mitral valve prolapse ORPHA:137834
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Rhizomelia, Edema, Polyhydramnios, Recurrent upper respiratory tract infect... OMIM:607143
Coffin-Siris Syndrome 5
Atrial septal defect, Intrauterine growth retardation, Short stature OMIM:616938
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Short stature, Congestive heart failure, Recurrent upper respiratory tract infections, Bronchiect... ORPHA:391487
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent lower respiratory tract infections, Short stature, Recurrent sinusitis, Mitral valve pr... OMIM:130000
Atransferrinemia
Congestive heart failure, Abnormality of the liver OMIM:209300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function ORPHA:67048
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Stridor, Pulmon... OMIM:617137
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Short stature, Arterial rupture OMIM:619115
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Neonatal asphyxia, Heart murmur, Atrial septal defect, Intrauterine... ORPHA:2728
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ... OMIM:615512
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Short stature, Secundum atrial septal defect, ... ORPHA:99646
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Neonatal asphyxia... ORPHA:141127
Gne Myopathy
Cardiomyopathy ORPHA:602
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cardiomyopathy, Myofiber disarray OMIM:301075
Zaki Syndrome
Patent foramen ovale OMIM:619648
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Acromegaly
Palpebral edema, Macroglossia, Hypertension, Mitral regurgitation, Joint swelling, Hypertrophic c... ORPHA:963
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Hypertension, ... OMIM:603903
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Xerostomia, P... ORPHA:220393
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Growth delay, Tachypnea OMIM:614857
Somatomammotropinoma
Palpebral edema, Macroglossia, Hypertension, Mitral regurgitation, Joint swelling, Hypertrophic c... ORPHA:314769
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency... ORPHA:682
Distal Nebulin Myopathy
Cardiomyopathy ORPHA:399103
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:618236
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Re... ORPHA:14
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Short stature, Mitral valve prolapse ORPHA:1563
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis OMIM:257300
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... OMIM:160900
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Short stature, Camptodactyly OMIM:618529
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Atrial septal defect, Int... ORPHA:2008
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion ORPHA:3392
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... OMIM:620025
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy OMIM:609308
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmona... OMIM:612387
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Exertional dyspnea ORPHA:90037
Pseudo-Torch Syndrome 1
Patent foramen ovale OMIM:251290
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Alveolar Echinococcosis
Pulmonary cyst, Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis,... ORPHA:284
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect OMIM:619908
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis ORPHA:488632
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... ORPHA:254892
Mitochondrial Complex I Deficiency, Nuclear Type 29
Dyspnea, Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension OMIM:602531
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Short stature, Pneumonia, Secundum atrial septal defect, Flexio... OMIM:264090
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy OMIM:615352
Congenital Myopathy 24
Cardiomyopathy, First degree atrioventricular block OMIM:617336
Lateral Meningocele Syndrome
Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve, Short stature OMIM:130720
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
King-Denborough Syndrome
Ventricular septal defect, Short stature, Centrally nucleated skeletal muscle fibers, Type 1 musc... OMIM:619542
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Atelectasis, Respir... OMIM:269860
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Aplasia/Hypoplasia of t... ORPHA:1425
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Short stature ORPHA:96169
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi... OMIM:618278
Osteogenesis Imperfecta, Type Ii
Nonimmune hydrops fetalis, Congestive heart failure, Respiratory insufficiency, Disproportionate ... OMIM:166210
Degcags Syndrome
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pneumonia, Polyh... OMIM:619488
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Myocarditis, Atelectasis, Dyspnea, Hepatitis, Larg... ORPHA:728
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Facial hypotonia, Polyhydramnios OMIM:611087
Diamond-Blackfan Anemia 5
Ventricular septal defect, Short stature OMIM:612528
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Short stature, Congestive heart failure, Asthma, Abnormal heart morpho... ORPHA:444077
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega... OMIM:614576
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Stevenson-Carey Syndrome
Atrial septal defect, Joint contracture of the hand, Left superior vena cava draining to coronary... OMIM:611961
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Cardiac conduction abnormality, Dyspnea, Ragged-red muscle fibers, Dilated c... ORPHA:255210
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Dehydration, Aspir... ORPHA:2131
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... ORPHA:538
Cohen Syndrome
Facial hypotonia, Delayed puberty, Short stature, Mitral valve prolapse OMIM:216550
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis ORPHA:1338
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... ORPHA:558
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Arterioven... ORPHA:974
Diamond-Blackfan Anemia 10
Respiratory distress, Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, ... OMIM:613309
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Short stature, Mitral valve prolapse OMIM:300986
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Bradycardia, Congenital foot contractures, Limb hypertonia ORPHA:565624
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
20Q13.33 Microdeletion Syndrome
Facial hypotonia, Abnormal cardiac ventricle morphology, Hematochezia, Growth delay, Atrial septa... ORPHA:261311
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Recurrent respiratory infections, Abnormal heart valve ... ORPHA:77261
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration, Short stature OMIM:617808
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function OMIM:246900
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Diastasis recti, Short statu... OMIM:253220
Aarskog-Scott Syndrome
Congestive heart failure, Short stature, Camptodactyly of finger ORPHA:915
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Cardiomyopathy, Hypertension, Pleuritis ORPHA:767
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... OMIM:300845
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Po... ORPHA:1199
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl... OMIM:620278
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ... ORPHA:509
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Pulm... ORPHA:1335
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Facial palsy, Atrial septal defect, Pulmonary arterial hyperten... OMIM:620186
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy ORPHA:1369
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Joubert Syndrome 3
Atrial septal defect, Episodic tachypnea, Neonatal breathing dysregulation, Central apnea OMIM:608629
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyl... OMIM:256040
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Postnata... ORPHA:536467
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... ORPHA:115
Pagod Syndrome
Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morphology, Hypoplastic left... ORPHA:991
Costello Syndrome
Ventricular septal defect, Short stature, Rhabdomyosarcoma, Polyhydramnios, Tracheomalacia, Achil... OMIM:218040
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale OMIM:228520
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Growth delay, Hypertrophic c... OMIM:231530
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... OMIM:312870
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Finnish Upper Limb-Onset Distal Myopathy
Cardiomyopathy ORPHA:399086
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Postnatal g... ORPHA:96191
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Mitral valve prolapse, Hypertension, Intrauterine growth retardation, Oligohydr... OMIM:616914
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Alpha-B Crystallin-Related Late-Onset Myopathy
Cardiomyopathy ORPHA:399058
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Mitral valve prolapse ORPHA:449291
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Exertional dyspnea ORPHA:90033
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Short stature ORPHA:3077
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis OMIM:604250
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom... OMIM:616843
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature OMIM:609654
Trisomy 13
Ventricular septal defect, Abnormal lung lobation, Hydrops fetalis, Atrial septal defect, Intraut... ORPHA:3378
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616364
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short stature, Abnormal tricuspid valve morphology, Abnormal aortic valv... ORPHA:192
D-Glyceric Aciduria
Growth delay, Neonatal respiratory distress, Bradycardia OMIM:220120
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... OMIM:619573
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype... ORPHA:94093
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress, Polyhydramnios ORPHA:990
Marburg Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Pancreatitis, Jaundice, Nonprodu... ORPHA:99826
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Short stature, Flexion contracture, Atrial septal defect, Intrauterine... OMIM:617452
17Q23.1Q23.2 Microdeletion Syndrome
Short stature, Dyspnea, Congenital contracture, Atrial septal defect, Pulmonary arterial hyperten... ORPHA:261279
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... ORPHA:33226
Warsaw Breakage Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular s... OMIM:613398
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Woods Syndrome
Ventricular septal defect OMIM:615236
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Ventricula... ORPHA:444072
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Chops Syndrome
Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return OMIM:616368
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Short... OMIM:300590
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Ventricular septal defect, Mitral atresia, Portal hypertension, Ascending aorta ... OMIM:619503
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Joubert Syndrome 18
Intrauterine growth retardation, Ventricular septal defect, Camptodactyly OMIM:614815
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Short stature, Apnea, Breathin... ORPHA:438213
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Autosomal Dominant Spastic Paraplegia Type 9A
Mitral regurgitation, Lower limb hypertonia ORPHA:447753
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Respiratory distress, Short sta... OMIM:260400
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Short stature, Respiratory distress OMIM:300968
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aor... ORPHA:1708
Fg Syndrome Type 1
Progressive flexion contractures, Short stature, Mitral valve prolapse, Atrial septal defect, Pul... ORPHA:93932
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chylothorax, Pulmonic ... OMIM:163950
Al Kaissi Syndrome
Torticollis, Short stature, Postnatal growth retardation, Atrial septal defect, Intrauterine grow... OMIM:617694
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Congestive heart failure, ... OMIM:616482
Legius Syndrome
Paroxysmal atrial tachycardia, Non-small cell lung carcinoma, Pulmonic stenosis, Mitral valve pro... ORPHA:137605
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Decreased liver function, Intrauterine growth retardation OMIM:618839
Thanatophoric Dysplasia Type 1
Polyhydramnios, Increased nuchal translucency, Respiratory insufficiency, Aplasia/Hypoplasia of t... ORPHA:1860
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Torticollis, Skeletal muscle atrophy, Postnatal growth retardat... ORPHA:251061
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin OMIM:620321
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy OMIM:500007
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Ventricular septal defect OMIM:610832
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Short stature, Atrial septal defect, Intrauter... ORPHA:505237
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Hypertension, Enlarged kidney,... ORPHA:730
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363958
Roifman Syndrome
Noncompaction cardiomyopathy, Short stature, Postnatal growth retardation, Recurrent pneumonia, H... ORPHA:353298
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature,... ORPHA:536545
8P11.2 Deletion Syndrome
Short stature, Splenomegaly, Mitral valve prolapse, Growth delay, Atrial septal defect ORPHA:251066
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Cardiomyopath... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Flexion contracture, Sinus bradycardia, Congenital contracture,... OMIM:618397
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Atelectasis, My... OMIM:300219
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation ... OMIM:617602
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Congestive heart failure, Hepatomegaly ORPHA:75564
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, Intracranial he... ORPHA:449285
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple... ORPHA:581
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia, Hyperventilation ORPHA:83600
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG ORPHA:1177
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Short stature, Hepatomegaly ORPHA:772
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... ORPHA:171
Alg1-Cdg
Cardiomyopathy, Decreased liver function, Abnormal heart morphology ORPHA:79327
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Polyhydramnios, Edema ORPHA:1423
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Cerebral ischemia ORPHA:927
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic failure OMIM:232500
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Cardiomyopathy, Jaundice, Acute hepatic failure OMIM:616483
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hern... OMIM:601803
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Cardiac arrest, Myocarditis, Angioedema, Dy... ORPHA:139402
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect ORPHA:93267
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Subvalvular aortic stenosis ORPHA:65286
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent foramen ovale OMIM:618076
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Neo... ORPHA:142
Alazami Syndrome
Atrial septal defect, Postnatal growth retardation ORPHA:319671
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Respiratory distress, Short stature, Intr... ORPHA:333
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Short stature, Respiratory insufficiency OMIM:617260
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613457
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Short stature... ORPHA:261537
Distal Triplication 15Q
Flexion contracture, Abnormal heart morphology, Pulmonary hypoplasia, Camptodactyly, Atrial septa... ORPHA:314588
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Dehy... ORPHA:1667
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... ORPHA:1692
Myopathy, Myofibrillar, 4
Cardiomyopathy OMIM:609452
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Elevated he... ORPHA:36426
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Genitopatellar Syndrome
Hip contracture, Short stature, Apnea, Knee flexion contracture, Pulmonary hypoplasia, Atrial sep... ORPHA:85201
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Cardiomyopathy OMIM:619566
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Congenital contracture, Neonatal respiratory distress, Respiratory... OMIM:615042
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Scapular winging, Internal carotid artery dissection, Bicuspid ... OMIM:150230
Sweeney-Cox Syndrome
Patent foramen ovale OMIM:617746
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Intrauterine growth retardation, Abnormal mitral valve morphology, Short st... ORPHA:1292
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hypertension, Atrial s... OMIM:613610
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Respiratory distress, Intermittent hype... ORPHA:348
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Ventricular septal defect OMIM:617635
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Cerebellofaciodental Syndrome
Ventricular septal defect, Short stature, Mitral valve prolapse OMIM:616202
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Peritonitis, Vasculitis... ORPHA:228123
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia OMIM:619314
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Pneumothora... ORPHA:1302
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Short stature, Abnormal heart morphology,... ORPHA:177907
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage ORPHA:238459
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Arrhythmia,... ORPHA:228305
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... ORPHA:261197
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Nonim... OMIM:235510
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy, Short stature, Intrauterine growth retardation ORPHA:324525
Duchenne Muscular Dystrophy
Cardiomyopathy ORPHA:98896
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Dyspnea, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyop... OMIM:610505
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Short stature, Congestive heart failure, Disproportionate short-trunk ... ORPHA:1830
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary art... OMIM:614437
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Cardiomyopathy, Abnormal atrioventricular conduction ORPHA:329336
Ramos-Arroyo Syndrome
Atrial septal defect, Severe short stature, Xerostomia, Respiratory distress ORPHA:1051
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Wrinkly Skin Syndrome
Scapular winging, Muscular ventricular septal defect, Atrial septal dilatation, Hypoplasia of the... OMIM:278250
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardi... ORPHA:156
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Mitral valve prolapse OMIM:618874
Scalp-Ear-Nipple Syndrome
Short stature, Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supravent... OMIM:181270
Gitelman Syndrome
Prolonged QT interval, Neoplasm of the pancreas, Respiratory distress, Raynaud phenomenon, Perica... ORPHA:358
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Growth delay, Pulmonary arterial hypertension, Hypertrophic... OMIM:212350
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Edema, Cardiomegaly, Pe... ORPHA:51608
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Short stature, Asplenia, Flexion contracture, Abno... ORPHA:2152
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Intermediate Nemaline Myopathy
Cardiomyopathy ORPHA:171433
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Tarp Syndrome
Subdural hemorrhage, Neonatal death, Hepatic failure, Atrial septal defect, Intrauterine growth r... OMIM:311900
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Short stature, Cardiomegaly, Splenomegaly, Flexio... OMIM:230000
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung... ORPHA:167635
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Edema, Prolonged neonatal jaundice ORPHA:90673
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Polyhydramnios, Joint contracture, Atrial septal defect, Intrauterine growth retar... OMIM:618005
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale OMIM:618454
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Scapular winging, Hip contracture, Limb joint contracture, Sh... OMIM:620369
Opitz Gbbb Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:2745
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Atelec... ORPHA:73263
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Decreased liver fun... OMIM:618835
Meier-Gorlin Syndrome 7
Ventricular septal defect, Short stature, Heart block, Complete atrioventricular canal defect, Gr... OMIM:617063
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Hypertension OMIM:209900
Tibial Muscular Dystrophy
Cardiomyopathy ORPHA:609
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Fetal Alcohol Syndrome
Atrial septal defect, Intrauterine growth retardation, Short stature, Congenital diaphragmatic he... ORPHA:1915
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... ORPHA:85450
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Short stature OMIM:616549
Cooper-Jabs Syndrome
Short stature, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Short stature, Dextrotransposition of the great... OMIM:619995
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Abnorm... ORPHA:97685
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Bdv Syndrome
Atrial septal defect OMIM:619326
Filippi Syndrome
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth... ORPHA:3255
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Growth delay, Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:90674
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Short stature, Polyhydramnios, Camptodactyly, Atrial septal defect, In... OMIM:617360
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia, Short stature, Disproportionate short-trunk short st... ORPHA:85194
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Short stature, Delayed puberty, Muscle... ORPHA:1772
Spondyloocular Syndrome
Short stature, Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve OMIM:605822
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Recurrent respiratory infections, Skeletal muscle atrophy, Respiratory distr... OMIM:211530
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature OMIM:218350
Plague
Respiratory distress, Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, ... ORPHA:707
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Hepatomegaly, Ventricular septal defect, Short stature OMIM:615630
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Short stature ORPHA:79113
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Shor... ORPHA:567
Bohring-Opitz Syndrome
Neonatal respiratory distress, Ventricular septal defect, Short stature, Polyhydramnios, Mesomeli... OMIM:605039
Braddock-Carey Syndrome 1
Growth delay, Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Infancy onset short-trunk short stature, Ventr... ORPHA:508488
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Hypertension, Respiratory... ORPHA:805
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Disproportionate short-trunk short stature, ... OMIM:608022
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Hutchinson-Gilford Progeria Syndrome
Growth delay, Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... ORPHA:329178
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Short stature, Polyhydramnios, Abnormal p... OMIM:617180
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia OMIM:617190
Verheij Syndrome
Ventricular septal defect, Short stature, Growth delay, Intrauterine growth retardation, Truncus ... OMIM:615583
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype... OMIM:620005
Cohen Syndrome
Ventricular septal defect, Short stature, Mitral valve prolapse, Delayed puberty, Intrauterine gr... ORPHA:193
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis OMIM:614099
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Short stature, Myoca... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Short stature, Myoca... ORPHA:99228
Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Short stature, Myoca... ORPHA:99226
Gabriele-De Vries Syndrome
Patent foramen ovale OMIM:617557
Turner Syndrome
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Short stature, Myoca... ORPHA:881
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Cranioectodermal Dysplasia 1
Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Bicuspid aortic valve, Malformation o... OMIM:218330
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia, Growth delay, Short stature ORPHA:93947
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Fanconi Anemia, Complementation Group Q
Growth delay, Short stature, Primum atrial septal defect OMIM:615272
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Pelger-Huet Anomaly
Mild short stature, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa... ORPHA:96149
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Mitral regurgitation, Tricuspid regurgitation ORPHA:73223
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Polyhydramnios, Congestive heart failure, Mi... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Stillbirth, Decreased liver function, Neonatal death, Hepatic steat... OMIM:614922
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma... ORPHA:494344
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hepatomegaly, Pancreatitis, Respiratory distress ORPHA:289916
Intellectual Disability-Strabismus Syndrome
Short stature, Congenital diaphragmatic hernia, Polyhydramnios, Achilles tendon contracture, Cong... ORPHA:363528
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hyperten... ORPHA:464738
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Contractures of the large joints, Ventricular septal defect ORPHA:3078
Renal Agenesis
Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Oligohydramnios ORPHA:411709
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Pancreatitis, Hepatomegaly ORPHA:27
Lethal Kniest-Like Dysplasia
Polyhydramnios, Edema, Mesomelic/rhizomelic limb shortening, Severe short-limb dwarfism, Atrial s... ORPHA:2347
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, Bradycardia, Neonatal death, Respir... OMIM:617248
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Succinic Acidemia
Respiratory distress OMIM:600335
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:1790
Malaria
Respiratory distress ORPHA:673
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Short stature, Cardiomyopathy, Macroglossia, Severe ... ORPHA:769
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy ORPHA:848
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure ORPHA:2759
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, Camptodactyly, Atrial septal defect ORPHA:397709
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Postnatal growth retardation, Recurrent upper respirat... ORPHA:1465
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Macroglossia, Mitral valve prolapse ORPHA:369950
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Short stature, Macroglossia, Mitral regurgitation OMIM:208400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Short stature OMIM:616901
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Portal hypertension, Cirrhosis, Emphysema, Hepatic failure OMIM:210050
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy OMIM:618241
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy OMIM:619046
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Short stature, Mesomelic short stature, P... OMIM:184260
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy ORPHA:401768
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Short stature, Edema ORPHA:2505
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:98914
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:590
Leopard Syndrome 2
Hypertrophic cardiomyopathy, Short stature OMIM:611554
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Meester-Loeys Syndrome
Aortic dissection, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm,... OMIM:300989
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Ventricular septal defect, Heart murmur, Respiratory insuffici... ORPHA:163979
Propionic Acidemia
Hepatomegaly, Short stature, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis OMIM:606054
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy ORPHA:254886
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatocellular adenoma,... ORPHA:264580
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Oligohydramnios ORPHA:261304
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Heart murmur OMIM:618653
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... ORPHA:100050
Aceruloplasminemia
Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis,... ORPHA:48818
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Dyspnea, Bronchiectasis, Abnormal pulmonary int... OMIM:181000
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund... ORPHA:231222
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Contracture of the di... OMIM:114290
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Hypovolemia, Dehydration, Growth delay, Subvalv... ORPHA:47159
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Atrioventricular... OMIM:617088
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function ORPHA:79321
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Postnatal growth retarda... OMIM:257920
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Dextrocardia OMIM:277380
Myopathy With Extrapyramidal Signs
Hepatomegaly, Ventricular septal defect, Splenomegaly, Growth delay, Calf muscle hypertrophy OMIM:615673
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle flexion contra... OMIM:259600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Polyhydramnios, Recurrent pneumonia, Elbow flexion contracture, Disproportionate sh... ORPHA:508533
Dysosteosclerosis
Ventricular septal defect, Short stature ORPHA:1782
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Short stature OMIM:618325
Wiedemann-Steiner Syndrome
Short stature, Postnatal growth retardation, Contracture of the distal interphalangeal joint of t... OMIM:605130
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect ORPHA:79243
Infantile Krabbe Disease
Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscle weakness, Respirator... ORPHA:206436
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Polyhydramnios, Atrial septal defect, Intrauterine growth retardation OMIM:603467
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent foramen ovale OMIM:616975
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular septal defect, Short statu... ORPHA:2962
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy OMIM:616896
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Abnormal heart morphology, Hematochezia, Melena, Inte... ORPHA:79076
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Short stature, Cardiomegaly... ORPHA:51
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy OMIM:608810
Childhood-Onset Nemaline Myopathy
Cardiomyopathy ORPHA:171439
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Short stature... OMIM:256810
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat... ORPHA:3472
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Allergic rhinitis, Asthma, Knee flexion contracture, Atrial septal... OMIM:618162
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... OMIM:231680
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Short stature ORPHA:1770
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Postnatal growth retardation, Short stature OMIM:609625
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:608358
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Marshall-Smith Syndrome
Ventricular septal defect, Short stature, Apnea, Recurrent upper respiratory tract infections, Ai... OMIM:602535
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Pneumonia, Nodular regenerative hyperplasia of liver, Raynaud phenom... ORPHA:247691
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Codas Syndrome
Ventricular septal defect, Short stature ORPHA:1458
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardi... OMIM:620167
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse OMIM:617107
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short stature, Growth d... OMIM:614294
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Short stature OMIM:618348
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Abnormal lung lobation, Abnormal heart morphology ORPHA:369837
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy ORPHA:119
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Growth delay, Atrial septal defect, Hypertrophic cardiomyo... OMIM:600268
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Short stature, Skeletal muscle hypertrophy, Intrauterine g... OMIM:617164
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Pneumothorax, Growth delay, Cardiomyopathy, Hepatic steatosis ORPHA:445038
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Vasculitis, Cardiomyopa... OMIM:225750
19P13.3 Microduplication Syndrome
Growth delay, Intrauterine growth retardation, Ventricular septal defect ORPHA:447980
Kury-Isidor Syndrome
Growth delay, Ventricular septal defect OMIM:619762
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy ORPHA:544469
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... OMIM:157900
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Facial edema, Growth delay, Macroglossia, Bradycardia, Prolonged neonatal jau... ORPHA:226307
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy ORPHA:1215
Combined Oxidative Phosphorylation Deficiency 5
Growth delay, Hypertrophic cardiomyopathy OMIM:611719
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Rhizomelia, Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Neonatal shor... OMIM:151210
Wiedemann-Rautenstrauch Syndrome
Short stature, Camptodactyly of finger, Congenital malformation of the left heart, Skeletal muscl... ORPHA:3455
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Intrauterine growth retardation OMIM:617710
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Vici Syndrome
Cardiomyopathy, Short stature, Recurrent respiratory infections ORPHA:1493
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent foramen ovale OMIM:300990
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Ja... ORPHA:3385
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy OMIM:617183
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Flexion contracture, Atrial septal d... OMIM:147791
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Cholestatic liver disease ORPHA:5
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Tetrasomy 9P
Pericarditis, Dextrocardia, Raynaud phenomenon, Abnormal cardiac septum morphology, Abnormal mitr... ORPHA:3310
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short stature ORPHA:52055
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hypotension... ORPHA:159
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... OMIM:607323
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Neu-Laxova Syndrome 1
Ventricular septal defect, Stillbirth, Transposition of the great arteries, Neonatal death, Paten... OMIM:256520
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Growth delay, Cardiomyopathy, Abnormality of the liver, Hepatocell... ORPHA:88618
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Severe short stature, Ventricular septal defect, Camptodactyly ... ORPHA:3047
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Upper airway obstruction, Camptodactyly OMIM:207410
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Short stature, Third degree atrioventricular block OMIM:530000
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale ORPHA:477993
Codas Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Atrial septal defect, Atrioventricular ... OMIM:600373
Bartsocas-Papas Syndrome 1
Patent foramen ovale OMIM:263650
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... OMIM:300472
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Short stature, Congestive heart failure, Ret... ORPHA:464
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Polyhydramnios, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:614080
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Proportionate short ... ORPHA:71212
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... ORPHA:373
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Congestive heart failure, Pedal edema ORPHA:247353
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Short stature OMIM:614207
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Pulmonary hypoplasia, Atrial se... OMIM:616546
Yellow Fever
Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Suprave... ORPHA:99829
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Postnatal growth retardation, Short stature, Camptodactyly ORPHA:261323
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Stickler Syndrome
Recurrent respiratory infections, Skeletal muscle atrophy, Short stature, Mitral valve prolapse, ... ORPHA:828
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy OMIM:618891
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Abnormal heart morphology, Macroglossia, Pulmonary hyp... ORPHA:798
Distal Deletion 10Q
Scapular winging, Short stature, Postnatal growth retardation, Facial diplegia, Atrial septal defect ORPHA:96148
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Ventricular septal defect ORPHA:77298
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Tarp Syndrome
Apnea, Pulmonary hypoplasia, Atrial septal defect, Intrauterine growth retardation, Tetralogy of ... ORPHA:2886
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium, Neonatal short-limb short stature, Disproportionate short-li... OMIM:225500
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidia... OMIM:229850
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Camptodactyly, Mitral valve prolapse OMIM:182212
Trisomy 18
Short stature, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic herni... ORPHA:3380
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Angina pectoris,... ORPHA:93473
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Short stature, Micronodular cirrhosis, Cardiomyopath... ORPHA:98907
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Short stature, Cyst of the ductus choledochus, Cardiomyopathy, Delayed pube... ORPHA:480880
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Short stature, Polyhydramnios, Apnea, Tracheomalacia, Ca... OMIM:300373
Focal Dermal Hypoplasia
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Abnormal ca... ORPHA:2092
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Macroglossia, Stridor, Bradycardia OMIM:218700
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Ventricular septal defect ORPHA:217346
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Congenital diaphragmatic herni... ORPHA:280
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature ORPHA:284227
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... ORPHA:1780
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency OMIM:260450
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Short stature ORPHA:96097
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... OMIM:261540
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Short stature, Elbow flexion contr... OMIM:178110
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Pseudoaminopterin Syndrome
Patent foramen ovale ORPHA:221120
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Peritonitis, Limb mu... ORPHA:1546
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Abnormal pattern of respiration, Hypotension ORPHA:428
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Congenital diaphragmatic hernia, Supravalvular aortic stenosis,... OMIM:219100
Refsum Disease
Heart block, Cardiomyopathy, Splenomegaly ORPHA:773
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Abnormal cardiovascular system physiology, Cardiomyopathy, Hype... ORPHA:79086
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Splenomegaly, Joint swelling, Pulmonary fibrosis OMIM:612852
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Hypertrophic cardiomyopathy OMIM:614462
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Ventricular septal defect OMIM:234050
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Delayed puberty ORPHA:496790
Coffin-Lowry Syndrome
Mitral regurgitation, Short stature OMIM:303600
Wolfram Syndrome 1
Growth delay, Cardiomyopathy OMIM:222300
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Short stature, Flexion contracture, Xerostomia, Atrial septal d... ORPHA:398069
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension, Abnormality of the pancreas ORPHA:1555
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Congenital muscular torticollis, Abnormality of the spleen, Abnormal lung lobation,... ORPHA:2538
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Ventricular septal defect, Short stature ORPHA:166035
Kniest Dysplasia
Respiratory distress, Hip contracture, Rhizomelia, Disproportionate short-trunk short stature, Tr... OMIM:156550
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... OMIM:225400
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Cardiomyopathy ORPHA:521411
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature ORPHA:251014
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Polyhydramnios, Microvesicular hepatic steatosis, Flexion contract... OMIM:300868
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona... OMIM:274150
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Intrauterine growth retar... OMIM:620076
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature, Portal hy... ORPHA:64
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Abnormal lung lobation, Gro... OMIM:270400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent foramen ovale, Epistaxis OMIM:619841
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature, Congenital diaphragmatic hernia OMIM:606164
Hallermann-Streiff Syndrome
Proportionate short stature, Congestive heart failure, Respiratory insufficiency, Abdominal situs... ORPHA:2108
Hereditary Spherocytosis
Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Restrictive cardiomyopathy, Cholelithiasis ORPHA:822
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short stature OMIM:615503
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia OMIM:250220
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy, Short stature, Intrauterine growth retardation OMIM:616051
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Rhizomelia, Polyhydram... ORPHA:818
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Digeorge Syndrome
Ventricular septal defect, Short stature, Splenomegaly, Atelectasis, Recurrent pneumonia, Chronic... OMIM:188400
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Central apnea, Progressive flexion contractures, Hyperventilation ORPHA:522077
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph... OMIM:235255
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Postnatal growth retard... OMIM:117650
Achondroplasia
Respiratory distress, Rhizomelia, Polyhydramnios, Upper airway obstruction, Pulmonary hypoplasia,... OMIM:100800
Bardet-Biedl Syndrome 20
Atrial septal defect, Asthma, Pancreatitis, Elevated hepatic transaminase OMIM:619471
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Adult-Onset Distal Myopathy Due To Vcp Mutation
Cardiomyopathy ORPHA:329478
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... OMIM:618733
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... ORPHA:124
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis, Pulmonary fibrosis OMIM:203300
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Short stature... OMIM:274000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Coffin-Siris Syndrome 12
Tetralogy of Fallot, Patent foramen ovale, Heart murmur OMIM:619325
Joubert Syndrome 14
Growth delay, Ventricular septal defect OMIM:614424
Trisomy 1Q
Patent ductus arteriosus, Ventricular septal defect ORPHA:261344
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, Splenomegaly, Hepatospleno... ORPHA:1655
Agel Amyloidosis
Respiratory tract infection, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia, Orthostatic ... ORPHA:85448
Carney Complex
Neoplasm of the pancreas, Cardiac myxoma, Congestive heart failure, Hypertension, Hepatocellular ... ORPHA:1359
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Fanconi Anemia
Short stature, Growth delay, Abnormality of the liver, Abnormal cardiac septum morphology, Abnorm... ORPHA:84
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Myositis, Respiratory distress, ... ORPHA:37042
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy ORPHA:370959
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion ORPHA:2526
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Limb Body Wall Complex
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... ORPHA:2369
Holocarboxylase Synthetase Deficiency
Growth delay, Tachypnea, Respiratory distress ORPHA:79242
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Oligohydramnios, Intrauterine growth retardation OMIM:300896
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short stature, Polyhydramnios, Postnatal growth retardation, Recurrent sinusitis, Atrial septal d... OMIM:213980
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Cardiomyopathy, Splenomegaly OMIM:616084
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Orofaciodigital Syndrome V
Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculi... ORPHA:1572
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Short stature ORPHA:912
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta ORPHA:268249
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:212066
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Hypertension, Arrhythmia, Neonatal death, Intrauterine growth retardation, Hypertro... OMIM:614052
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Cardiomyopathy, Aspiration pneumonia, Intrauterine growth retardation ORPHA:79255
Melas
Wolff-Parkinson-White syndrome, Short stature, Cardiac conduction abnormality, Dilated cardiomyop... ORPHA:550
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary airway malforma... OMIM:243150
Johanson-Blizzard Syndrome
Hepatomegaly, Generalized edema, Ventricular septal defect, Short stature, Portal hypertension, E... OMIM:243800
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
C Syndrome
Hepatomegaly, Ventricular septal defect, Short stature OMIM:211750
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature ORPHA:33001
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Cardiomyopathy, Arrhythmia, Hepatic failure ORPHA:157
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:222448
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Short stature OMIM:250410
Meier-Gorlin Syndrome 1
Respiratory distress, Flexion contracture, Birth length less than 3rd percentile, Camptodactyly, ... OMIM:224690
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Ventricular septal defect, Dextrocardia, Camptodac... ORPHA:2461
Restrictive Dermopathy 1
Limb joint contracture, Polyhydramnios, Flexion contracture, Stillbirth, Pulmonary hypoplasia, Ne... OMIM:275210
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Dilatation of the ventricular cavity ORPHA:363623
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
Penile Agenesis
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Atrial septal defect, O... ORPHA:49
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, ... OMIM:212065
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ... OMIM:276700
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,... ORPHA:699
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Ventricular septal defect OMIM:617798
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion contracture, Pulmo... OMIM:601559
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Aplasia of the pectoralis majo... ORPHA:3138
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hypertrophic cardiomyopathy, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... OMIM:615273
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis ORPHA:98805
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Proportionate short stat... ORPHA:500150
Oromandibular Dystonia
Respiratory distress, Torticollis ORPHA:93958
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Dehydration OMIM:251110
Osteogenesis Imperfecta, Type X
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease OMIM:613848
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Short stature, Portal hypertension, Tachypnea, Abnormal pulmonary ... OMIM:613658
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hyper... OMIM:616878
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Neuroocular Syndrome
Patent foramen ovale OMIM:619539
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios ORPHA:50810
Sarcoidosis
Heart block, Abnormal lung morphology, Ventricular tachycardia, Cough, Emphysema, Hepatomegaly, F... ORPHA:797
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Cough ORPHA:2314
Hughes-Stovin Syndrome
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... ORPHA:228116
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Short stature, Postnatal growth retard... ORPHA:2834
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Hypertrophic cardiomyopathy, Arrhythmia, Elevated hepatic transaminase OMIM:615471
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... OMIM:309500
Restrictive Dermopathy
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Pulmonary hyp... ORPHA:1662
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Short sta... ORPHA:286
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Dehydration OMIM:251100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy ORPHA:206549
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Intrauterine growth retardation ORPHA:572798
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios, Enlarged kidney, Splenic cyst OMIM:618188
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Multiple joint contractures, A... ORPHA:79318
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Ventricular septal defect ORPHA:251028
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Hepatic failure OMIM:607426
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Short stature, Recurrent upper respiratory tract infections, Growth delay, Hypertension, Hydromye... OMIM:308205
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy OMIM:201470
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Ventricular septal defect, Short stature ORPHA:1393
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Doors Syndrome
Respiratory distress, Double outlet right ventricle, Polyhydramnios, Aspiration pneumonia ORPHA:79500
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect, Short stature OMIM:227645
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Postnatal growth retardation, Splenopancreatic fusion, Macroglossia, Atrial septa... OMIM:269150
Kabuki Syndrome 1
Ventricular septal defect, Short stature, Postnatal growth retardation, Growth delay, Atrial sept... OMIM:147920
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pneumonia, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hepatitis, ... OMIM:615846
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Arthrogryposis multiplex congenita, Dilation of Virchow-Robin spaces OMIM:619512
Opitz Gbbb Syndrome
Growth delay, Ventricular septal defect OMIM:300000
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Growth delay, Pulmonary hypoplasia, Camptodactyly, Joint contracture of th... OMIM:309800
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Biotinidase Deficiency
Respiratory distress, Limb muscle weakness, Apnea, Hyperventilation ORPHA:79241
Cartilage-Hair Hypoplasia
Hepatomegaly, Rhizomelia, Heart block, Abnormality of the pancreas, Cardiomyopathy, Abnormal card... ORPHA:175
Trichothiodystrophy
Cardiomyopathy, Recurrent bronchopulmonary infections, Ventricular septal defect, Intrauterine gr... ORPHA:33364
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Short stature, Biliary tract ... OMIM:194190
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Ventricular septal defect, Pulmonary hypoplasia OMIM:214100
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:619229
Parkes Weber Syndrome
Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Lower limb muscle ... ORPHA:90307
Poland Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Abnormalit... ORPHA:2911
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Atelectasis, Recurrent pneumonia, Cough, Pleural effus... OMIM:306400
Primary Hyperoxaluria
Elevated hepatic transaminase, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopath... ORPHA:416
Friedreich Ataxia
Cardiomyopathy ORPHA:95
Microphthalmia, Syndromic 3
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:206900
Isolated Complex I Deficiency
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:2609
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... OMIM:619329
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Torticollis, Total anomalous pulmonary venous return, Knee flexion contracture OMIM:609945
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature OMIM:183900
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal mesentery morphology, Delayed puberty ORPHA:3463
Pallister-Hall Syndrome
Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctatio... OMIM:146510
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Pulmonary h... OMIM:606170
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... OMIM:216340
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Pneumonia, Raynaud phenomenon, Cardiomyopathy, Hypertension... ORPHA:48435
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Short stature ORPHA:404448
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Short stature, Congenital diaphragma... OMIM:135900
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Pulmonary fibrosis ORPHA:79430
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Diets-Jongmans Syndrome
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Ventricular septal defect, Splenomegaly, Growth delay, Weakness of facial musculature OMIM:619418
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Stüve-Wiedemann Syndrome
Respiratory distress, Short stature, Camptodactyly of finger, Apnea, Asthma, Flexion contracture,... ORPHA:3206
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the lungs, ... ORPHA:2162
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cardiomyopathy, Ci... OMIM:608594
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Sub... ORPHA:90324
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Camptodactyly of finger, Dyspnea, Growth delay, Respi... ORPHA:2554
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Abnormal lung lobation, Respiratory insufficiency, Dist... ORPHA:672
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Usher Syndrome
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology ORPHA:886
Cornelia De Lange Syndrome
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Increased nuchal trans... ORPHA:199
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Hypertrophic cardiomyopathy, Cirrhosis, Exocrine pancreatic insufficiency OMIM:616539
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Postnatal... OMIM:268300
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Ventricular septal... OMIM:269700
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Macroglossia, Distal arthrogryposis OMIM:618268
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Osteoglophonic Dysplasia
Respiratory distress, Severe short stature, Rhizomelia, Camptodactyly of finger, Growth delay OMIM:166250
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Ventricular septal defect ORPHA:436252
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Small cell lung carcinoma,... ORPHA:821
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Splenomegaly, Concentric hypertrophic cardiomyopathy, Growth delay, Hypertrophic ca... OMIM:252010
Otopalatodigital Syndrome, Type Ii
Short stature, Elbow contracture, Postnatal growth retardation, Respiratory insufficiency, Respir... OMIM:304120
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Cornelia De Lange Syndrome 1
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Elbow flexion contract... OMIM:122470
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage ORPHA:93126
Oculodentodigital Dysplasia
Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Short stature, Atelectasis, Dehydration, Respiratory insufficie... ORPHA:534
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, Intrauterine growth... OMIM:619522
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Short stature OMIM:619727
Castleman Disease
Restrictive cardiomyopathy, Jaundice ORPHA:160
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien... ORPHA:2929
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Stillbirth, Intrauterine growt... OMIM:236680
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... ORPHA:3404
Acrofacial Dysostosis 1, Nager Type
Short stature, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:154400
Vater/Vacterl Association
Ventricular septal defect, Postnatal growth retardation, Transposition of the great arteries, Int... OMIM:192350
Cleidocranial Dysplasia 1
Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress OMIM:119600
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature OMIM:259770
Zimmermann-Laband Syndrome 1
Splenomegaly, Cardiomyopathy, Hepatomegaly OMIM:135500
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Leprechaunism
Postnatal growth retardation, Hepatomegaly, Hypertrophic cardiomyopathy, Severe intrauterine grow... ORPHA:508
Kasabach-Merritt Syndrome
Respiratory distress, Hepatic hemangioma, Hypopnea ORPHA:2330
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Camurati-Engelmann Disease
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Delayed puberty ORPHA:1328
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Hepatomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Ulnar-Mammary Syndrome
Elbow flexion contracture, Ventricular septal defect, Delayed puberty OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Ventricular septal defect, Recurrent bronchitis OMIM:620330
Isolated Arrhinia
Respiratory distress ORPHA:1134
Chand Syndrome
Atelectasis ORPHA:1401
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Pul... OMIM:164210
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Lipodystrophy, Familial Partial, Type 7
Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation OMIM:606721

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hey2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hey2.

No publications found that use IMPC mice or data for Hey2.

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MGI Allele Allele Type Produced
Hey2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hey2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hey2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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