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Gene: Smad7 MGI:1100518

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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:
SMAD family member 7
Synonyms:
Madh7

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 Smad7 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 Smad7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229

The table below shows human diseases predicted to be associated to Smad7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm... OMIM:613854
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Stroke, Supraventricular tachycardia, Abnormal capillary physiology, Limb mus... ORPHA:90064
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cryptorchidism, Cleft palate, Tooth agenesis ORPHA:1074
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor... ORPHA:2299
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Atrial septal defect, Stroke, Cardiac arrest, Paroxysmal atrial tachyca... ORPHA:49827
Syngnathia
Cleft palate OMIM:119550
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... ORPHA:99050
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ... OMIM:614954
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog... OMIM:617912
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Vascular dilatation, Ventricular arrhythmia, Impaired myocardial contra... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy, Distal lower limb muscle weakness, Leg muscle stiffness ORPHA:320360
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Hydrops fetalis, Reduced left ventric... ORPHA:45452
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Stroke, Per... OMIM:614022
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Myocardial sarc... OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276556
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria... ORPHA:99105
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Nathalie Syndrome
Arrhythmia ORPHA:2663
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Edema, Achalasia, Pallor, Peri... ORPHA:3386
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Pallor, Oligohydramnios ORPHA:163596
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276575
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... OMIM:255160
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276580
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Sprengel Deformity
Short neck, Cleft palate, Torticollis ORPHA:3181
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Mmep Syndrome
Orofacial cleft, Ventricular septal defect, Median cleft upper lip, Cryptorchidism ORPHA:3434
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Thoracic aorti... ORPHA:3093
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Everted lower lip vermilion, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep... OMIM:249670
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Hypertrophic cardiomyopathy OMIM:613561
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Displacement of the papillary muscl... ORPHA:1329
Wild Type Attr Amyloidosis
Congestive heart failure, Pulmonary edema, Pedal edema, Bradycardia, Atrial fibrillation, Pleural... ORPHA:330001
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary ... OMIM:608978
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Ventri... ORPHA:2476
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Atrial Standstill 2
Vascular dilatation, Bradycardia, Stroke, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ve... OMIM:615745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Prolonged QRS complex, Cardio... ORPHA:75565
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Aplasia/Hypoplasi... ORPHA:3099
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot... OMIM:108900
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip... OMIM:616898
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyo... OMIM:618815
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr... OMIM:310200
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Nemaline Myopathy 9
Ventricular septal defect, High palate, Cleft palate OMIM:615731
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Stiff neck, Torticollis, High palate, Hypoplasia of the thymus, Sho... OMIM:617022
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Atrial reentry tachycardia, Dextrocar... OMIM:270100
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp... ORPHA:1926
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasarca, T-wave inver... OMIM:261740
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Patent ductus ar... ORPHA:261120
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Inte... ORPHA:185
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy, Bradycardia OMIM:619048
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Umbilical hernia ORPHA:1918
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... ORPHA:1041
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Peripheral edema, Pulmonary edema, Atrial fibrillation, Supraventricular... ORPHA:75249
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia,... OMIM:314390
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr... OMIM:253300
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At... OMIM:300257
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Peripheral edema, Cardiomegaly, Reduced left ventricular ejection... ORPHA:1677
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia ORPHA:85447
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, High palate, Hypoplasia of the thymus, Median cleft palate, Conotr... ORPHA:40366
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Cardio... ORPHA:137675
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Transposition of the great arteries, Calf muscle hypertrophy, Pulmonic stenos... OMIM:253800
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform... OMIM:243150
Carpenter Syndrome 1
Transposition of the great arteries, Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Paten... OMIM:201000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra... OMIM:619040
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Myopathy, Arrhythmia ORPHA:104
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Flexi... OMIM:232500
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr... OMIM:620067
Holzgreve Syndrome
Cleft upper lip, Cleft palate, Hypoplastic left heart OMIM:236110
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Klippel-Feil Syndrome 2, Autosomal Recessive
Low posterior hairline, Cleft upper lip, Cleft palate, Short neck, Ventricular septal defect, Lim... OMIM:214300
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Stroke, Transie... ORPHA:99104
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Lower limb muscle weakness ORPHA:1177
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Abnormal jugular vein morphology, P... ORPHA:275766
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate, Atrial septal defect, Ventricular septal defect ORPHA:1388
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Patent ductus arteriosus, Tachycardia, Atrial septal defect, V... OMIM:613870
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Stroke, Precocious atherosclerosis, Thin skin, Skeletal muscle atrop... ORPHA:230839
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Truncus arteriosus, Cleft palate, Ventricular septal defect OMIM:601355
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Noonan Syndrome 12
Polyhydramnios, Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic stenosis OMIM:618624
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Pallor, Tachycardia ORPHA:324575
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Abnormal cardiac septum morphology ORPHA:1681
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Pleural effusio... OMIM:615355
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep... OMIM:249270
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal lower lip morphology, Abnormal aortic morphology, Tooth agenesis, Cryptorchidism, Cleft ... ORPHA:1166
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal cardiac ventricle morphology, Monoclonal light chain cardia... ORPHA:85443
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Aortic valve stenosis, Cutis laxa... ORPHA:363705
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:602390
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri... ORPHA:2255
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Dextrocardia
Situs inversus totalis, Dextrocardia, Webbed neck, Congenital malformation of the great arteries,... ORPHA:1666
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Webbed neck, Tetralogy of F... ORPHA:1780
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Short philtrum, Atrial septal defect, Ventricular septal defect, Widel... OMIM:608227
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Diffuse alveolar hemorrhage, Pallor, Heart murmur ORPHA:99931
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Patent ductus arteriosus, Ventricular septal defe... OMIM:619717
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Car... OMIM:618652
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, Premature vent... OMIM:212138
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Cryptorchidism, Intestinal malrotation, Cleft palate, Ventricular septal... OMIM:615524
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Oral ulcer, High palate, Lymphopenia, Hypoplasia ... OMIM:612541
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Abnorma... ORPHA:392
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Hec Syndrome
Endocardial fibroelastosis, Polyhydramnios, Cardiomyopathy, Arrhythmia ORPHA:2119
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Downturned corners of mouth, Cleft palate, Ventricular septal defect ORPHA:94066
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Anemia, Abnormal aortic morphology, Intestinal atresia, Vent... ORPHA:3405
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Edema, Dilated cardi... OMIM:607598
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma... OMIM:612782
Congenital Sialidosis Type 2
Petechiae, Ascites, Abnormal heart morphology, Cherry red spot of the macula, Edema, Abnormal EKG... ORPHA:93400
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... OMIM:613759
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... OMIM:619167
Treacher-Collins Syndrome
Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Encephal... ORPHA:861
Li-Campeau Syndrome
Patent foramen ovale, Cryptorchidism, Hypothyroidism, Patent ductus arteriosus, Long philtrum, At... OMIM:619189
Isolated Anencephaly
Thymus hyperplasia, Cleft lip, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor ORPHA:90037
Cone-Rod Dystrophy 11
Pallor OMIM:610381
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Intestinal malrotation, Abnormal he... ORPHA:401935
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, S... OMIM:617478
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect OMIM:620210
Evans Syndrome
Syncope, Petechiae, Epistaxis, Pallor ORPHA:1959
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Camptoda... ORPHA:1194
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventricular se... OMIM:615279
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Glossoptosis OMIM:614876
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Patent ductus ... OMIM:617021
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Atrial septal defect, Prolonged QT interval, Noncompaction cardiomyopat... OMIM:610198
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Dk1-Cdg
Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D... ORPHA:91131
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular hypertrophy, Pulmonary artery atresia, High palate, Anal a... OMIM:612946
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Abnormal heart morphology, Mi... ORPHA:2847
Pseudo-Torch Syndrome 2
Bradycardia, Petechiae, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorr... OMIM:617397
Noonan Syndrome 5
Polyhydramnios, Webbed neck, Dry skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia... OMIM:611553
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Cleft upper lip, Ventricular septa... OMIM:601357
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... OMIM:618775
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ... OMIM:615084
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Stroke, Hypertension, Cardiomyopathy, Upper limb ... ORPHA:892
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft upper lip, Cleft palate, Short neck, Ventricular septal defect OMIM:609654
Tyshchenko Syndrome
Narrow palate, High, narrow palate, High palate, Cryptorchidism, Pulmonic stenosis, Cleft palate,... OMIM:615102
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri... OMIM:179613
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Wide mouth ORPHA:1296
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Familial Multiple Nevi Flammei
Skin ulcer, Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia... ORPHA:624
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification, Psoriasiform lesion, Arrhythmia OMIM:616298
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Generalized amyotrophy, Joint contracture, Arrhythmia OMIM:616516
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Coronary artery atherosclerosis, Abnormal cardiac ventr... ORPHA:439232
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Open mouth, Cryptorchidism OMIM:616816
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Truncus arteriosus, Abnormal aortic morphology, Cleft palate, S... ORPHA:2516
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Ventricular septal defect, Portal hypertension OMIM:616589
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Ectopic anus, Low posterior hairline, Spina bifida,... ORPHA:2345
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Hypoplasia of the thymus, Cleft palate, Cryptorchidism OMIM:214110
Lymphedema-Distichiasis Syndrome
Webbed neck, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Arrhythmia, Tetralogy ... OMIM:153400
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Aganglionic megacolon, ... ORPHA:210122
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil... ORPHA:352447
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Thin uppe... OMIM:618330
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block... ORPHA:398124
Hemochromatosis, Type 1
Congestive heart failure, Cardiomyopathy, Ascites, Pleural effusion, Arrhythmia, Cardiomegaly, Te... OMIM:235200
Syndromic Diarrhea
Villous atrophy, Gastritis, Thrombocytosis, Lymphopenia, Hypoplasia of the thymus, Hypothyroidism... ORPHA:84064
Fabry Disease
Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Transien... OMIM:301500
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth,... OMIM:618506
Atelis Syndrome 1
Anemia, High palate, Hypothyroidism, Carious teeth, Leukopenia, Thrombocytopenia, Long philtrum, ... OMIM:620184
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Skeletal muscle atrophy, Flexion contracture, Arrhythmia, Myopathy ORPHA:157973
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Skin ulcer, Tetralogy of Fallot, Ve... ORPHA:3474
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Patent duct... OMIM:313850
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocytic anemia, Reticuloc... OMIM:615550
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Low posterior hairline... OMIM:220210
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Transaldolase Deficiency
Thin vermilion border, Anemia, Short philtrum, Pancytopenia, Patent foramen ovale, Coarctation of... OMIM:606003
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Ventricular fibrillation, Peri... ORPHA:26793
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pleural effusion, Hypotension, Pericarditis, Arrhythmia, Pedal edema ORPHA:188
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Oculoauriculofrontonasal Syndrome
Encephalocele, Narrow mouth, Cleft palate, Broad philtrum, Cleft lip, Ventricular septal defect ORPHA:398156
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ... ORPHA:206569
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Cryptorchidism, Abnormal d... OMIM:272440
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia ORPHA:99944
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Stroke, Pleural effus... ORPHA:33226
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Increased nuchal translucency, Patent ductus arteriosus, Atria... OMIM:615668
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Webbed neck OMIM:616559
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure, Pallor ORPHA:90033
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Excessive wrinkled skin, Vascular... ORPHA:500
Optic Atrophy 1
Pallor OMIM:165500
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery atherosclerosis, Angina pectoris, Low-output congestive heart failure, Renal arte... ORPHA:565612
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiomyopathy, Dehydration, Cardiac conduction abnormality, Arrhythmia, Pallor... ORPHA:2131
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate, Agenesis of pineal gland OMIM:614402
Fanconi Anemia, Complementation Group I
Atrial septal defect, Pallor, Ventricular septal defect, Patent foramen ovale OMIM:609053
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Hypertrophic cardiomyopathy, Protruding tongue, Umbilical hernia, Cryptorc... OMIM:612938
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema, Intracranial hemorrhage ORPHA:3226
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dehydration, Pallor, Edema, Dilated cardiomyopathy ORPHA:20
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Right axis deviation, Firm mus... OMIM:232300
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Neutropenia, Dextrocardia, Anemia, Everted lower lip vermilion, Cryptorchidi... OMIM:618067
Dominant Beta-Thalassemia
Skin ulcer, Hypoplasia of the musculature, Pallor, Arrhythmia, Dilated cardiomyopathy, High-outpu... ORPHA:231226
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F, Persiste... OMIM:619769
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnorma... OMIM:618223
8Q12 Microduplication Syndrome
Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal defect, Ventricular septa... ORPHA:228399
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Right aortic arch, Thick upper lip vermilion, Cleft pala... OMIM:617616
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Myopathy ORPHA:228305
Tetraamelia Syndrome 2
Glossoptosis, Absent nipple, Ankyloglossia, Cleft palate, Ventricular septal defect, Bilateral cl... OMIM:618021
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Skin ulcer, Calcinosis, Palpebral edema, Angina pectoris, Vasculitis... ORPHA:93672
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... OMIM:619343
Hemoglobin D Disease
Pallor ORPHA:90039
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Cutis laxa, Oligohydramnios, Transposition of the great arteries, Muscular ventricu... OMIM:619503
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Thick vermilion border, Patent ductus arteriosus, Atrial septal defe... OMIM:618974
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia ORPHA:3191
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Abnormal ductus choledochus morphology, Hypoplasia o... ORPHA:436252
Ogden Syndrome
Torticollis, Cutis laxa, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular se... ORPHA:276432
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Noonan Syndrome 10
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Pleural effusion, Hypertrophic ... OMIM:616564
Pelger-Huet Anomaly
Abnormality of neutrophils, Giant platelets, Gingival overgrowth, Abnormality of the dentition, M... OMIM:169400
Infantile Refsum Disease
Facial palsy, Cardiomyopathy, Arrhythmia ORPHA:772
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Braddock-Carey Syndrome 1
Everted lower lip vermilion, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence, Thick vermil... OMIM:619980
Hereditary Spherocytosis
Pallor, Restrictive cardiomyopathy, Skin ulcer ORPHA:822
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Breath-Holding Spells
Pallor OMIM:607578
Pentalogy Of Cantrell
Orofacial cleft, Anencephaly, Encephalocele, Non-midline cleft of the upper lip, Abnormal pericar... ORPHA:1335
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Pulmonary Arteriovenous Malformation
Ischemic stroke, Myocardial infarction, Bacterial endocarditis, Pleural empyema, Transient ischem... ORPHA:2038
Digeorge Syndrome
Right aortic arch with mirror image branching, Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal ... OMIM:188400
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia ORPHA:139466
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm... ORPHA:85446
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios... OMIM:614976
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Cleft upper lip, Coarctation of aorta, Secundum atrial ... OMIM:600987
Idiopathic Congenital Hypothyroidism
Facial edema, Macroglossia, Bradycardia ORPHA:95717
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Oral ulcer, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Spleno... OMIM:602450
Suleiman-El-Hattab Syndrome
Thick lower lip vermilion, Webbed neck, Patent foramen ovale, High palate, Cryptorchidism, Downtu... OMIM:618950
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Intestinal malrotation, Splenomegaly, Umbilical hernia, Long phi... ORPHA:567
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Bile duct proliferation, Cleft palate, Atrial septal def... OMIM:611134
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Increased serum testosterone level, Hyp... OMIM:618901
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Patent foramen ovale, Increased nuchal translucency, Cryptorchidism, Coarcta... OMIM:618494
Restrictive Dermopathy
Scaling skin, Transposition of the great arteries, Polyhydramnios, Dextrocardia, Multiple joint c... ORPHA:1662
Beta-Thalassemia Major
Skin ulcer, Hypoplasia of the musculature, Pallor, Arrhythmia, Dilated cardiomyopathy, High-outpu... ORPHA:231214
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Char Syndrome
Triangular mouth, Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Persist... ORPHA:46627
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Pedal edema, Retinal hemorrhage ORPHA:86839
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Tran... ORPHA:3260
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Cleft upper lip, Bifid uvula, Cleft palate, ... OMIM:608572
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio... OMIM:610338
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Hypothyroidism, Coarct... ORPHA:1923
Sepsis In Premature Infants
Purpura, Bradycardia, Petechiae, Hypotension, Tachycardia, Pallor, Edema ORPHA:90051
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short philtrum, Abnormality of the dentition, Cleft palate, Smooth philtrum, Long philtrum, Atria... ORPHA:261190
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Increased nuchal translucency, Widely-spaced incisors, Wide mouth, Cry... OMIM:617635
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Parachute mitral valve, Webbed neck, Short philtrum, Patent foramen ovale, Exagger... OMIM:618316
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, My... OMIM:609015
Necrotizing Enterocolitis
Bradycardia, Ascites, Hypotension, Abnormal heart morphology, Edema, Shock ORPHA:391673
Woods Syndrome
Thin vermilion border, Ventricular septal defect, Supernumerary nipple OMIM:615236
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormal EKG OMIM:613102
Congenital Rubella Syndrome
Anemia, Type I diabetes mellitus, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Abnor... ORPHA:290
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Dry skin, Bradycardia OMIM:610768
Agel Amyloidosis
Blepharochalasis, Cardiomyopathy, Dry skin, Facial palsy, Cutis laxa, Orthostatic hypotension due... ORPHA:85448
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Everted lower lip vermilion, Pulmonary artery stenosis, Lo... ORPHA:75389
Glutamine Deficiency, Congenital
Bradycardia, Camptodactyly, Neonatal death, Flexion contracture, Erythema OMIM:610015
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thick lower lip vermilion, Gingival overgrowth, High palate, Everted lower lip vermilion, Thicken... OMIM:220500
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Cleft palate, Thrombocytopenia, Hepatosplenomegaly, Congenital thromboc... OMIM:616738
Barth Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Skeletal myopathy... OMIM:302060
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Primary Myelofibrosis
Purpura, Petechiae, Portal hypertension, Ecchymosis, Pallor ORPHA:824
Neu-Laxova Syndrome 1
Stillbirth, Transposition of the great arteries, Polyhydramnios, Patent foramen ovale, Camptodact... OMIM:256520
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Accessory spleen, Patent foramen ovale, Adrenal hypoplasia, Hypoplasia of the th... OMIM:613177
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, Ventricular septal defect, High palate OMIM:314320
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Tachycardia ORPHA:70587
Costello Syndrome
Polyhydramnios, Redundant skin, Hypertrophic cardiomyopathy, Thickened Achilles tendon, Pulmonic ... ORPHA:3071
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Distal arthrogryposis, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Webbed neck, Pleural effusion, Ascites, Hypertrophic cardiomyopa... OMIM:616897
Scorpion Envenomation
Myocarditis, Congestive heart failure, Purpura, Pulmonary edema, Prominent U wave, Stroke, Hypert... ORPHA:466677
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Increased nuchal translucency, P... OMIM:618870
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Lobulated tongue, Cleft palate OMIM:614815
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Chromosome 15Q25 Deletion Syndrome
Thin vermilion border, Dextrocardia, Webbed neck, Macrocytic anemia, Coronary artery fistula, Cry... OMIM:614294
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Camptodactyly, Atrial septal defect, Ventricular septal defect, Mitral regu... OMIM:301039
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Eec Syndrome
Orofacial cleft, Decreased response to growth hormone stimulation test, Anterior hypopituitarism,... ORPHA:1896
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia, Ventricular septal defect OMIM:612528
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect, Broad secondary alveolar ridge ORPHA:3369
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal def... ORPHA:2519
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Downturned corners of mouth, Splenomegaly, Long ph... OMIM:616651
Recombinant 8 Syndrome
Abnormality of the neck, Gingival overgrowth, Abnormality of the anus, Abnormality of the dentiti... ORPHA:96167
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Protein-losing enteropathy, Thyroid lymphangiectasia, Pancreatic lymphangiec... OMIM:235255
King-Denborough Syndrome
Webbed neck, High palate, Bilateral cryptorchidism, Cryptorchidism, Short neck, Ventricular septa... OMIM:619542
Noonan Syndrome
Patent ductus arteriosus, Webbed neck, Aplasia/Hypoplasia of the abdominal wall musculature, Lymp... ORPHA:648
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Transposition of the great arteries, Polyhydramnios, Patent duct... OMIM:312870
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept... OMIM:614653
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect, Polyhydramnios OMIM:263630
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Unilateral cryptorchidism, Bifid tongue, Bifid... OMIM:174300
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm, Elbow flexion contracture, Wrist flexion contract... OMIM:121050
Aase-Smith Syndrome I
Ventricular septal defect, Cleft palate, Open mouth OMIM:147800
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Cryptorchidism, Umbilical hernia, Downturned corners of mouth, Wide mouth, ... ORPHA:329224
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Hypertension, Coarctation of aorta, Mitral valve prolapse, Atrioventricula... ORPHA:371428
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aortic arch, Pulmo... OMIM:192430
Fraser Syndrome 2
Narrow mouth, Hypoplasia of the thymus, Anal atresia, Intestinal malrotation, Short neck, Rectal ... OMIM:617666
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Flexion cont... OMIM:608149
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Widely spaced teeth, Patent foramen ovale, High palate, Cryptorchidism, Downturned corners of mou... ORPHA:369891
Neuroendocrine Tumor Of The Colon
Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, P... ORPHA:100080
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Thrombotic Thrombocytopenic Purpura
Stroke, Myocardial infarction, Arrhythmia ORPHA:54057
Beta-Ketothiolase Deficiency
Hypertension, Dehydration, Hypotension, Edema, Pallor ORPHA:134
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Cryptorchidism, Pulmonic stenosis, Asplenia, Cleft palate, Cleft l... OMIM:619123
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the... OMIM:265380
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia ORPHA:2928
Ritscher-Schinzel Syndrome 2
Broad neck, Short philtrum, High palate, Low posterior hairline, Pulmonary artery hypoplasia, Int... OMIM:300963
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft of the upper lip, Abnormality of the philtrum, Cleft palate, Umbilical hernia, ... ORPHA:1770
Congenital Myopathy 22A, Classic
Polyhydramnios, Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenital finger flexio... OMIM:620351
Nephrotic Syndrome, Type 11
High palate, Cleft palate, Smooth philtrum, Cleft lip, Ventricular septal defect, Dilated cardiom... OMIM:616730
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ... ORPHA:70
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Skin ulcer, Vasculitis, Pericarditis, Epis... ORPHA:727
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Neonatal death OMIM:613730
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Abnormal oral frenulum morphology, Intestinal malrotation, Downturned corners of ... ORPHA:404440
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Prolonged QT interval, Stroke, EMG: myopathic abnormalities, Arrhythmia, Ab... ORPHA:480864
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Left ventricular hypertrophy, ... ORPHA:746
Verheij Syndrome
Truncus arteriosus, Cleft palate, Long philtrum, Short neck, Ventricular septal defect, Branchial... OMIM:615583
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn... ORPHA:477817
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Pulmonary artery aneurysm, Arterial tor... OMIM:614437
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Cardiac arrest, Dehydration OMIM:246450
Periventricular Nodular Heterotopia 7
Dental crowding, Narrow mouth, Cryptorchidism, Pierre-Robin sequence, Cleft palate, Ventricular s... OMIM:617201
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Pulmonary arterial hypertension, Rhabdomyolysis, Coarctation of aorta, Tachycardia,... OMIM:614921
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Giant Cell Arteritis
Skin ulcer, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ventri... ORPHA:397
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Cryptorchidism, Umbilical hernia, Diabetes mellitus, Abnormal heart morphol... ORPHA:500159
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Noonan Syndrome 2
Abnormal coronary artery origin, Redundant neck skin, Cardiomyopathy, Pulmonic stenosis, Nonimmun... OMIM:605275
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Retinitis Pigmentosa 51
Pallor OMIM:613464
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Patent ductus arteriosus, Atrial ... ORPHA:2970
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Polyhydramnios, Pulmonary artery atresia, Arthrogryposis multiplex congenita... OMIM:301056
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
Diamond-Blackfan Anemia 1
Congestive heart failure, Atrial septal defect, Webbed neck, Tricuspid stenosis, Coarctation of a... OMIM:105650
3C Syndrome
Orofacial cleft, High, narrow palate, Atrioventricular canal defect, Abnormal tricuspid valve mor... ORPHA:7
Emanuel Syndrome
Torticollis, Dental crowding, Truncus arteriosus, High palate, Anal atresia, Thickened nuchal ski... OMIM:609029
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Bile duct proliferation, Cleft upper lip, Cleft palate OMIM:611561
Inverted Duplicated Chromosome 15 Syndrome
Short philtrum, High palate, Cryptorchidism, Precocious puberty, Tetralogy of Fallot, Hypogonadis... ORPHA:3306
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Downturned corners of mouth, Ventricular septal defect, Short philtrum ORPHA:93267
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Webbed neck, Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale,... OMIM:617506
Fumarase Deficiency
Pallor, Polyhydramnios, Perimembranous ventricular septal defect, Ascites OMIM:606812
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Aortic regurgitation, Redundant skin, Peripheral pulmonary artery steno... OMIM:123700
Dravet Syndrome
Pallor ORPHA:33069
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
Down Syndrome
Delayed puberty, Broad neck, Microdontia, Umbilical hernia, Narrow palate, Aganglionic megacolon,... ORPHA:870
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema, Cerebral edema ORPHA:439218
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect, Smooth philtrum OMIM:602501
Chromosome 1Q41-Q42 Deletion Syndrome
Widely spaced teeth, Short philtrum, High palate, Cryptorchidism, Cleft upper lip, Cleft palate, ... OMIM:612530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Prolonged QT interval, Hypoglycosylation of ... OMIM:615351
Lymphatic Malformation 5
Cleft palate, Hypoplasia of lymphatic vessels OMIM:153200
Galloway-Mowat Syndrome 7
Edema, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Generalized edema, Ecchymosis, Subconjunctival he... ORPHA:319213
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Scapular winging OMIM:600462
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Non-midline cleft of the upper l... ORPHA:1908
Trisomy 13
High, narrow palate, Abnormality of the dentition, Cryptorchidism, Cleft palate, Cystic hygroma, ... ORPHA:3378
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Tricuspid regurgitation OMIM:615879
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia ORPHA:159
3P25.3 Microdeletion Syndrome
High, narrow palate, Short philtrum, Coronary artery atherosclerosis, Pulmonic stenosis, Pyloric ... ORPHA:435638
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ... ORPHA:465508
Emanuel Syndrome
Redundant neck skin, Delayed eruption of teeth, Tooth malposition, Dental crowding, Ectopic anus,... ORPHA:96170
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Arrhythmia, Atrial septal defect, Ventr... ORPHA:254346
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Ventricular septal defect, Increased overbite OMIM:618504
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Noonan Syndrome 4
Polyhydramnios, Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect... OMIM:610733
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Secundum atrial septal defect,... OMIM:612562
Coffin-Siris Syndrome 7
Thick lower lip vermilion, Short philtrum, Patent foramen ovale, Microdontia, Downturned corners ... OMIM:618027
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Cleft palate, Cleft lip, Ventricular septal defect, Adrenal gland agen... OMIM:611812
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus, Dental malocclusion, Ventr... OMIM:613680
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Polyhydramnios, Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Gingival bleeding, Hypoplasia of the thym... ORPHA:906
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Cleft upper lip, Coarctation of aorta, Cleft palate, Tetralogy of Fallot, Patent ... OMIM:600460
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Mildly reduced left ventricular ejection fraction, Arrhythmia OMIM:618098
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect ORPHA:2256
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Vater/Vacterl Association
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Patent ductu... OMIM:192350
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, Pallor OMIM:277400
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Intestinal malrotation, Downturned corners of mouth, Cleft palate, Patent ductus ... ORPHA:457193
Kapur-Toriello Syndrome
Low posterior hairline, Cryptorchidism, Intestinal malrotation, Cleft upper lip, Cleft palate, Pa... OMIM:244300
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Patent foramen ovale, High palate, Narrow mouth, Anal atresia, Umbilical hernia,... OMIM:612582
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi... ORPHA:324
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Pulmonary arterial hypertension, Double aortic arch,... ORPHA:95430
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Acute lymphobl... OMIM:208900
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, Hypogonadism, H... OMIM:615849
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Cardiomyopathy, Scapular winging, Rhabdomyolysis, Abnormal heart morpho... ORPHA:26791
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Hypotension, Pulmonic stenosis, Right ventricular failure, Cardiogenic shock,... ORPHA:100078
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Adrenal hypoplasia, Anal atresia, Median cleft pa... OMIM:264480
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ... OMIM:614947
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Dry skin, Bradycardia ORPHA:226313
Beta-Thalassemia Intermedia
Pallor, Skin ulcer, Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Ascending tubular aorta aneurysm, Oligodontia, ... ORPHA:453499
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Dry skin, Palpitations, Pallor ORPHA:91355
Kury-Isidor Syndrome
Widely spaced teeth, Triangular mouth, High palate, Tented upper lip vermilion, Long philtrum, Sh... OMIM:619762
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Short philtrum, Dysplastic pulmonary valve... OMIM:601808
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia, Patent ductus arteriosus OMIM:619909
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Cleft palate, Patent ductus arteriosus, Short neck, Ventricular septal defect ORPHA:52055
Typhoid
Gastrointestinal hemorrhage, Cardiac arrest, Epistaxis, Arrhythmia ORPHA:99745
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Orthostatic syncope, Dehydration, Syncope, Abnormal EKG ORPHA:230
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Limb hypertonia, Bradycardia OMIM:614498
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Ascending tubular aorta aneurysm, Mitral valve prolapse,... ORPHA:444072
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin vermilion border, Aortic root aneurysm, Dental crowding, High palate, Anal atresia, Cryptorc... OMIM:617602
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural... ORPHA:542323
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cryptorchidism, Cleft palate, Tet... ORPHA:2473
Noonan Syndrome 3
Tricuspid valve prolapse, Polyhydramnios, Webbed neck, Patent foramen ovale, Hypertrophic cardiom... OMIM:609942
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
Opitz Gbbb Syndrome
Rectourethral fistula, Solitary median maxillary central incisor, High palate, Anal atresia, Cryp... OMIM:300000
Chromosome 9P Deletion Syndrome
Narrow palate, Thin vermilion border, Perimembranous ventricular septal defect, High, narrow pala... OMIM:158170
Mgat2-Cdg
Hydrops fetalis, Reflex asystolic syncope, Abnormal heart morphology, Arrhythmia, Patent ductus a... ORPHA:79329
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Prolonged QT interval, Vascular dilatation, Bradycardia, Atrial fibrillation,... OMIM:613327
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pleural empyema, Hypertensive crisis, Generalized edema, Edema, Pallor ORPHA:544482
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Cryptorchidism, Long philtrum, Short neck, Atrial septal defect, Ventricular septal ... OMIM:617452
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Arrhythmia OMIM:255120
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Pallor, Hypotension, Tachycardia ORPHA:98849
Mitochondrial Complex I Deficiency, Nuclear Type 37
Stroke-like episode, Skeletal muscle atrophy, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena ORPHA:98870
Acrocardiofacial Syndrome
Truncus arteriosus, Camptodactyly of finger, Coarctation of aorta, Mitral stenosis, Tetralogy of ... ORPHA:2008
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Dry skin, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614576
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic ... ORPHA:66634
Colchicine Poisoning
Myocarditis, Congestive heart failure, Dehydration, Hypotension, Hypovolemia, Cardiogenic shock, ... ORPHA:31824
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Dysplastic pulmonary valve, Unilateral cleft palate, Cryptorchidism, W... OMIM:619103
Cat Eye Syndrome
Rectal fistula, Tricuspid atresia, Anal stenosis, Rectal atresia, Meckel diverticulum, Total anom... OMIM:115470
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Webbed neck, Pallor, Abnormal heart morphology, Nonimmune hyd... ORPHA:124
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Cryptorchidism, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Dental crowding, Ascending tubular aorta aneurysm, High palate, Deep philtrum, Op... OMIM:309520
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal dental enamel morphology,... ORPHA:1071
Esophageal Atresia
Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot, Pallor, Ventricular septal defect ORPHA:1199
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Persistent left superior v... OMIM:615067
Kapur-Toriello Syndrome
Orofacial cleft, Intestinal malrotation, Tetralogy of Fallot, Patent ductus arteriosus, Short nec... ORPHA:2328
Insulin-Like Growth Factor I, Resistance To
Increased circulating insulin-like growth factor 1 concentration, Webbed neck, Patent foramen ova... OMIM:270450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Congenital muscular torticollis, Patent foramen ovale, High palate, Submucous clef... ORPHA:457279
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Crypto... ORPHA:1655
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Abnormal vena cava morphology, Peripheral pulmonary artery stenosis, Dry sk... ORPHA:163956
Lymphedema-Distichiasis Syndrome
Webbed neck, Predominantly lower limb lymphedema, Arrhythmia, Patent ductus arteriosus, Varicose ... ORPHA:33001
Spondylo-Ocular Syndrome
Thin vermilion border, Webbed neck, Low posterior hairline, Long philtrum, Short neck, Ventricula... ORPHA:85194
Robinow Syndrome, Autosomal Dominant 3
Webbed neck, Triangular mouth, Dental malocclusion, Patent foramen ovale, Gingival overgrowth, Pu... OMIM:616894
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Patent ductus arteriosus, Cardiomyopathy, Camptodactyl... ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus OMIM:617751
Fliedner-Zweier Syndrome
Long philtrum, Hypoplastic aortic arch, Meningocele, High palate, Tracheoesophageal fistula, Anal... OMIM:620511
19P13.3 Microduplication Syndrome
Short philtrum, Narrow mouth, Unilateral cryptorchidism, Precocious puberty, Cleft palate, Thick ... ORPHA:447980
Cocaine Intoxication
Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmia, Hypertensio... ORPHA:90068
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Familial Thyroid Dyshormonogenesis
Facial edema, Macroglossia, Bradycardia ORPHA:95716
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl... ORPHA:254892
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Dental crowding, Natal tooth, Long philtrum, Atrial septal defect, Ventricu... OMIM:145420
Rett Syndrome
Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave OMIM:312750
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Broad neck, High palate, Bilateral cryptorchidism, Bifid uvula, Patent ductus arteriosus, Short n... OMIM:300472
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Pericardial lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Intesti... OMIM:235510
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short philtrum, Dental crowding, Oligodontia, High palate, Thick vermilion border, Patent ductus ... OMIM:617061
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Neonatal death, Arrhythmia, Oligohydramnios OMIM:614052
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Ventricular septal defect, Cryptorchidism OMIM:619908
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Orofacial cleft, Ventricular septal defect, Splenomegaly OMIM:615630
Degcags Syndrome
Atrial septal defect, Polyhydramnios, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary... OMIM:619488
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus ORPHA:452
Mosaic Trisomy 9
Tessier cleft, Dextrocardia, Webbed neck, Abnormal heart valve morphology, High palate, Spina bif... ORPHA:99776
Legionnaires Disease
Myocarditis, Hypotension, Pericarditis, Arrhythmia, Endocarditis ORPHA:549
Diamond-Blackfan Anemia 10
Broad neck, Anemia, Macrocytic anemia, Reticulocytopenia, Cleft palate, Steroid-responsive anemia... OMIM:613309
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin vermilion border, Redundant neck skin, Spina bifida occulta, Short philtrum, Short lingual f... OMIM:617360
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur ORPHA:166035
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Ventricular septal defect, Patent ductus arteriosus after prema... OMIM:620454
Lateral Meningocele Syndrome
Long philtrum, Meningocele, Aortic aneurysm, Dental crowding, High palate, Cryptorchidism, Umbili... OMIM:130720
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Cryptorchidism, Long philtrum, Short neck, Atrial septal defect, Ventricular septal ... ORPHA:505237
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Reduced left ventricular ejection fraction, Myositis, Cardiomyopathy, Facial ... ORPHA:258
Monosomy 22
Thin vermilion border, Hypochromic microcytic anemia, High palate, Hepatosplenomegaly, Open mouth... ORPHA:96123
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Arrhythmia, Overriding aorta, Atria... OMIM:309801
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Dental crowding, Ventricular hypertrophy, Pulmonic stenosis, Leukopenia, Lymphopenia, Long philtr... OMIM:620654
Yuan-Harel-Lupski Syndrome
Long philtrum, Aortic root aneurysm, High palate, Smooth philtrum, Bicuspid aortic valve, Ventric... OMIM:616652
3Q29 Microduplication Syndrome
Ectopic anus, High palate, Abnormality of the dentition, Cleft palate, Short neck, Ventricular se... ORPHA:251038
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Myopathy, Arrhythmia OMIM:535000
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Transketolase Deficiency
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... ORPHA:488618
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Long philtrum, Thin vermilion border, High palate, Microdontia, Cryptorchidism, Pulmonic stenosis... OMIM:610759
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Dehydration, Arthrogryposis multiplex congenita, Right ventricular hypertro... OMIM:208085
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
16P13.11 Microdeletion Syndrome
Exaggerated cupid's bow, Cryptorchidism, Cleft upper lip, Cleft palate, Wide mouth, Smooth philtr... ORPHA:261236
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Lyme Disease
Atrioventricular block, Joint swelling, Arrhythmia ORPHA:91546
Kawasaki Disease
Myocarditis, Congestive heart failure, Vasculitis, Abnormal heart valve morphology, Ascending tub... ORPHA:2331
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven... ORPHA:358
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, C... OMIM:300514
Histiocytosis-Lymphadenopathy Plus Syndrome
Left superior vena cava draining to coronary sinus, Flexion contracture of toe, Joint contracture... OMIM:602782
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveolar hemorrhage, Myocardi... ORPHA:99827
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Webbed neck, Aortic root aneurysm, Aortopulmonary window, Aplasia of the left hem... OMIM:620025
Trisomy 1Q
Narrow mouth, Anal atresia, Increased nuchal translucency, Cryptorchidism, Cleft palate, Cystic h... ORPHA:261344
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Coarctation of aorta, Bifid uvula, Tetralogy of Fallot, Patent ductus arteriosus,... OMIM:617159
Brachydactyly, Type B1
Ventricular septal defect, Camptodactyly, Joint contracture of the hand OMIM:113000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Microdontia, Agenesis... ORPHA:251028
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemic pallor, Hematochezia ORPHA:329971
D-Glyceric Aciduria
Patent ductus arteriosus, Bradycardia OMIM:220120
Kleefstra Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot, ... ORPHA:261494
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Myopathy With Extrapyramidal Signs
Leukocytosis, Splenomegaly, Tented upper lip vermilion, Short neck, Ventricular septal defect OMIM:615673
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... ORPHA:391665
Lateral Meningocele Syndrome
High, narrow palate, Meningocele, Dental crowding, High palate, Low posterior hairline, Cryptorch... ORPHA:2789
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale, Arrhythmia OMIM:619184
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pallor, Pulmonary artery stenosis, Pulmonary arterial hypert... ORPHA:667
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Vascular dilatation, Bradycardia ORPHA:221098
Koolen-De Vries Syndrome
Narrow palate, Widely spaced teeth, Aortic root aneurysm, High palate, Everted lower lip vermilio... OMIM:610443
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
Hyperkalemic Periodic Paralysis
Congestive heart failure, Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contractu... ORPHA:682
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary st... OMIM:618164
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Camptodactyly of finger, Coarctation of aorta,... ORPHA:2876
Dermatomyositis
Inflammatory myopathy, Sinus tachycardia, Pericarditis, Shawl sign, Limb-girdle muscle weakness, ... ORPHA:221
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
16Q24.3 Microdeletion Syndrome
Solitary median maxillary central incisor, Increased mean corpuscular volume, High palate, Crypto... ORPHA:261250
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Interrupted aortic arch, Everted lower lip vermil... OMIM:616920
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent nipp... OMIM:620186
19Q13.11 Microdeletion Syndrome
Thin skin, Ventricular septal defect, Dry skin ORPHA:217346
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Conical tooth, Selective tooth agenesis, Cleft upper lip, Cleft palate, Pate... OMIM:106260
Ogden Syndrome
Left atrial enlargement, Redundant neck skin, Redundant skin, Premature ventricular contraction, ... OMIM:300855
Renal Agenesis
Oligohydramnios, Hypertension, Ventricular septal defect ORPHA:411709
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Arrhythm... OMIM:608836
Irida Syndrome
Pallor ORPHA:209981
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Down Syndrome
Redundant neck skin, Aganglionic megacolon, Patent foramen ovale, Pulmonary artery stenosis, Pate... OMIM:190685
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosi... OMIM:608328
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Radio-Tartaglia Syndrome
High, narrow palate, Short philtrum, Dental crowding, High palate, Precocious puberty, Wide mouth... OMIM:619312
Beck-Fahrner Syndrome
Long philtrum, High palate, Open mouth, Cardiomegaly, Ventricular septal defect OMIM:618798
Cold Agglutinin Disease
Pallor ORPHA:56425
Wiedemann-Rautenstrauch Syndrome
Thin vermilion border, Increased serum testosterone level, Delayed eruption of teeth, Hypodontia,... OMIM:264090
Rabson-Mendenhall Syndrome
Advanced eruption of teeth, Increased serum testosterone level, Fasting hyperinsulinemia, Dental ... ORPHA:769
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly ORPHA:228308
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Duodenal atresia, Patent foramen ovale, Median cleft p... OMIM:301043
Joubert Syndrome 14
Hypertension, Ventricular septal defect, Intracranial hemorrhage OMIM:614424
Distal Duplication 5Q
Thin vermilion border, Dextrocardia, Narrow mouth, Cryptorchidism, Carious teeth, Long philtrum, ... ORPHA:96097
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Left bundle branch block, Facial palsy, Limb muscle weakness, Arrhythmia OMIM:610131
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Coronary arter... ORPHA:36913
Proteus-Like Syndrome
Open bite, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid g... ORPHA:2969
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
Coffin-Siris Syndrome 4
Everted upper lip vermilion, Thick lower lip vermilion, Short philtrum, Pulmonary artery atresia,... OMIM:614609
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arteriovenous malformation, Cerebral ischemia, Arrhythmia ORPHA:60040
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
De Barsy Syndrome
Dermal translucency, Excessive wrinkled skin, Hypoplastic aortic arch, Prominent veins on trunk, ... ORPHA:2962
ERI1-related disease
Tricuspid regurgitation, Abnormal heart morphology, Ventricular septal defect, Pulmonary arterial... OMIM:608739
Autosomal Recessive Robinow Syndrome
Wide mouth, Umbilical hernia, Long philtrum, Abnormal tricuspid valve morphology, Short philtrum,... ORPHA:1507
Filippi Syndrome
Thin vermilion border, Short philtrum, Cryptorchidism, Ventricular septal defect, Supernumerary n... ORPHA:3255
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Pallor, Distal amyotrophy OMIM:617675
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Cleft palate, Umbilical hernia... ORPHA:96129
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Nonimmune hydrops fetalis OMIM:266200
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypoplasia, Atrial septal defec... OMIM:616777
Ellis Van Creveld Syndrome
Acute leukemia, Situs inversus totalis, Thin vermilion border, Atrioventricular canal defect, Dex... ORPHA:289
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongue, Cleft palate, Tented u... OMIM:616449
Alagille Syndrome
Hypertension, Telangiectasia of the skin, Atrial septal defect, Ventricular septal defect, Periph... ORPHA:52
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph... ORPHA:352665
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect ORPHA:1488
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal hypertrophy, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted low... OMIM:608670
Chops Syndrome
High, narrow palate, Patent foramen ovale, Anomalous pulmonary venous return, Cryptorchidism, Dow... OMIM:616368
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:157
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:614961
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dental crowding, Narrow mouth, Bilateral cryptorchidism, Cryptorchidism, Pulmonary artery stenosi... OMIM:300998
X Small Rings
Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve, Ventricular septal defect, Oligohyd... ORPHA:96201
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Opitz Gbbb Syndrome
Tracheoesophageal fistula, Abnormal heart morphology, Umbilical hernia, Long philtrum, Patent for... ORPHA:2745
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Subv... OMIM:614114
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula, Patent ductus arteriosu... ORPHA:77298
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Purpura, Skin ulcer, Angina pectoris, Vasculitis, Hypertension, Cere... ORPHA:900
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Arrhythmia ORPHA:3201
Bohring-Opitz Syndrome
Narrow palate, Hyperechogenic pancreas, Broad alveolar ridges, Bilateral cleft palate, Narrow mou... OMIM:605039
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Esophageal atresia, Accessory spleen, Interrupted aortic arc... OMIM:164280
Ulnar-Mammary Syndrome
Camptodactyly of finger, Aplasia of the pectoralis major muscle, Ventricular septal defect, Arrhy... ORPHA:3138
Loeys-Dietz Syndrome 5
Cleft soft palate, Aortic root aneurysm, Patent foramen ovale, High palate, Eosinophilic infiltra... OMIM:615582
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, Muscular ventricular septal defect, High, narrow palat... OMIM:117550
Robinow Syndrome
Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Abnormal heart morphology, Umbilical h... ORPHA:97360
Adams-Oliver Syndrome 1
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Pulmonar... OMIM:100300
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Flexion contracture OMIM:227645
Short Stature-Micrognathia Syndrome
Ventricular septal defect, High palate, Cleft palate, Cryptorchidism OMIM:617164
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, Myelomeningocele, Spi... ORPHA:1393
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Localized Scleroderma
Vasculitis, Stroke, Raynaud phenomenon, Skeletal muscle atrophy, Arrhythmia, Flexion contracture,... ORPHA:90289
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy, Arthrogryposis multiplex congenita OMIM:613404
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Prolactinoma
Pallor, Hypotension ORPHA:2965
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect, Mi... OMIM:277600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal aortic morphology, Pulmonary ar... ORPHA:991
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Pulmonary artery atresia, Patent ductus arteriosus, Ventricular septal defe... OMIM:620113
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Hypovolemic shock, Arrhythmia ORPHA:171876
Codas Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Ventricular septal defect, Delayed... ORPHA:1458
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Thyroid agenesis, Neoplasm of the tongue, Thyroid hypoplasia, Cryp... ORPHA:3047
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Ventricular septal defect ORPHA:494344
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Syncope, Palpi... OMIM:170390
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Thick lower lip vermilion, Widely-space... OMIM:301040
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Myositis, Arrhythmia, Viral ... ORPHA:99845
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Gingival overgrowth, Everted lower lip vermilion, Protruding tongue, Wide ... OMIM:212066
Cohen Syndrome
Delayed puberty, High, narrow palate, Short philtrum, Gingival overgrowth, Abnormality of the den... ORPHA:193
Retinitis Pigmentosa 75
Pallor OMIM:617023
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Webbed neck, ... ORPHA:209905
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Myelofibrosis
Purpura, Pallor OMIM:254450
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Hypertensive crisis, Proximal amyotrophy, Palpitat... ORPHA:653
C Syndrome
Thick anterior alveolar ridges, High palate, Cryptorchidism, Wide mouth, Patent ductus arteriosus... OMIM:211750
Catel-Manzke Syndrome
Dextrocardia, Glossoptosis, High palate, Narrow mouth, Cryptorchidism, Short neck, Coarctation of... OMIM:616145
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS... OMIM:611174
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Patent foramen ovale, Anterior pi... OMIM:613457
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Hardikar Syndrome
Bilateral cleft palate, Intestinal malrotation, Unilateral cleft lip, Splenomegaly, Umbilical her... OMIM:301068
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Diastasis recti, Camptodactyly of finger, Thin skin, Telangiecta... ORPHA:2092
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Aortic aneurysm, Truncus arteriosus, Narrow mouth, Ankyloglossia, Pyloric st... ORPHA:261330
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Cerebrocostomandibular Syndrome
Anal stenosis, Webbed neck, Cleft soft palate, Short hard palate, Glossoptosis, High palate, Clef... OMIM:117650
Familial Mediterranean Fever
Myocardial infarction, Pedal edema, Vasculitis, Ascites, Pericarditis, Arrhythmia, Erythema ORPHA:342
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Small thenar eminence, P... OMIM:142900
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Limb hypertonia, Bradycardia ORPHA:565624
Holoprosencephaly
Solitary median maxillary central incisor, Tooth agenesis, Broad philtrum, Bilateral cleft lip, E... ORPHA:2162
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular sept... ORPHA:1519
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Craniofacioskeletal Syndrome
Short philtrum, Interrupted aortic arch, Cryptorchidism, Cleft palate, Patent ductus arteriosus, ... OMIM:300712
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Short-Rib Thoracic Dysplasia 12
Anencephaly, Patent foramen ovale, Hypoplastic nipples, Median cleft palate, Intestinal malrotati... OMIM:269860
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate, Atrial septal defect, Ventricular septal defect, Deep philtrum OMIM:610536
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Exaggerated cupid's bow, Smooth philtrum, Long philtrum, Ventricular septal def... OMIM:619306
Teebi-Shaltout Syndrome
High, narrow palate, Oligodontia, Narrow mouth, Aortic valve stenosis, Prominent palatine ridges,... OMIM:272950
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Dry skin, ST segm... ORPHA:466650
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Hypothyroidism Due To Tsh Receptor Mutations
Edema, Macroglossia, Bradycardia ORPHA:90673
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Aortic regurgitation, Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis... OMIM:607721
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Webbed neck, Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Hip co... OMIM:178110
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217085
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Gingival overgrowth, High palate, Cryptorchidism, U... ORPHA:96191
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Short philtrum, High palate, Low posterior hairline, Anal ... ORPHA:261337
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Neuroblastoma
Anemic pallor, Hypertension ORPHA:635
Costello Syndrome
Redundant neck skin, Rhabdomyosarcoma, Polyhydramnios, Lymphangiectasis, Webbed neck, Hypertrophi... OMIM:218040
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Flexion contracture of digit, Abnormal heart valve morpholog... ORPHA:580
Fanconi Anemia, Complementation Group D2
Anemic pallor, Abnormal heart morphology, Patent ductus arteriosus OMIM:227646
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short philtrum, Patent foramen ovale, Cryptorchidism, Umbilical hernia, Coarctation of aorta, Cle... OMIM:618454
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Widely spaced teeth, Cholelithiasis, Dental crowding, Hypoplastic nipples, High pala... OMIM:618268
2Q31.1 Microdeletion Syndrome
Thin vermilion border, Everted lower lip vermilion, Abnormality of the hypothalamus-pituitary axi... ORPHA:251014
Bohring-Opitz Syndrome
Bradycardia, Facial hypotonia, Bilateral wrist flexion contracture, Congenital contracture, Lower... ORPHA:97297
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Dehydration, Hypotension, Hypertensive crisis, Rhabdomyolysis, Arrhyth... ORPHA:94093
Botulism
Xerostomia, Arrhythmia ORPHA:1267
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217093
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Atrial septal defect, Ventricular septal defect, Pulmonary arterial hype... OMIM:620663
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Macroglossia, Dry skin, Bradycardia ORPHA:90674
Carney Triad
Gastrointestinal hemorrhage, Leiomyosarcoma, Hypertension, Ascites, Arrhythmia, Tachycardia ORPHA:139411
Hennekam-Beemer Syndrome
Hypotension, Camptodactyly of finger, Telangiectasia of the skin, Arrhythmia, Skin vesicle, Erythema ORPHA:2135
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Anal stenosis, Spina bifida occulta, Webbed neck, Dental malocclusion,... OMIM:300373
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus, Atrial ... ORPHA:163979
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Dehydration, Ascites ORPHA:1667
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Short philtrum, Cholelithiasis, Exaggerated cupid's bow, Everted lower lip v... ORPHA:464738
Ethylene Glycol Poisoning
Congestive heart failure, Pulmonary edema, Prolonged QT interval, Atrial fibrillation, Hypertensi... ORPHA:31826
Mosaic Trisomy 1
Orofacial cleft, Thick lower lip vermilion, Pulmonary artery atresia, Short upper lip, Increased ... ORPHA:1692
3Mc Syndrome 1
Spina bifida occulta, Dental crowding, Cleft lip, Cleft upper lip, Cleft palate, Patent ductus ar... OMIM:257920
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Foodborne Botulism
Xerostomia, Arrhythmia ORPHA:228371
Zellweger Syndrome
High palate, Thickened nuchal skin fold, Pyloric stenosis, Cryptorchidism, Primary adrenal insuff... ORPHA:912
Dysosteosclerosis
Abnormal dental enamel morphology, Ventricular septal defect, Delayed eruption of teeth ORPHA:1782
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Panhypopituitarism, An... OMIM:146510
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Rectoperineal fistula, Cryptorchidism, Coarctation of aorta, Tetralogy of F... OMIM:618748
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Petechiae, Dehydration, Hypotension, Hypovolemia, Internal hemorrhag... ORPHA:99826
Cornelia De Lange Syndrome 1
High, narrow palate, Widely spaced teeth, Delayed eruption of teeth, Hypoplastic nipples, High pa... OMIM:122470
Cerebellofaciodental Syndrome
Cryptorchidism, Mitral valve prolapse, Short neck, Dental malocclusion, Ventricular septal defect... OMIM:616202
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, Dental crowding, Wide mouth, Left ventricular hypertrophy, Short philtrum, Paten... ORPHA:466791
Trisomy 18
Narrow palate, Anencephaly, Webbed neck, Esophageal atresia, Non-midline cleft of the upper lip, ... ORPHA:3380
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Polyhydramnios, Aortic regurgitation, Aortic valve stenosis, Flexion c... ORPHA:464311
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Mosaic Trisomy 16
Large placenta, Maternal diabetes, Meckel diverticulum, Coarctation of aorta, Abnormal heart morp... ORPHA:1708
Letterer-Siwe Disease
Pallor OMIM:246400
Mosaic Trisomy 20
Cryptorchidism, Abnormal mitral valve morphology, Cleft palate, Dysplastic tricuspid valve, Crani... ORPHA:1724
Meier-Gorlin Syndrome 7
Heart block, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal def... OMIM:617063
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Polyhydramnios, Pulmonary artery ... ORPHA:141127
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Anal atresia, Short neck, Atrial septal defect, Ventricu... OMIM:610832
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Patent ductus arteriosus, Atrial septal defect, Ventricu... OMIM:620024
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph... ORPHA:79328
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Cryptorchidism, Pulmo... ORPHA:488632
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr... ORPHA:508498
Noonan Syndrome 1
Webbed neck, Chylothorax, Lymphedema, Dry skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, C... OMIM:163950
Fryns Syndrome
Broad neck, Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Ectopic... OMIM:229850
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Lymphedema, Raynaud phenomenon, Arrhythmia ORPHA:2874
Pearson Marrow-Pancreas Syndrome
Pallor, Hydrops fetalis, Dehydration, Erythema OMIM:557000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Ascites, Left-to-right shunt, Edema, Aortic regurgitation, Paten... OMIM:619534
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Aortic regurgitation, Tricuspid regurgitation, Camptodactyly, Heart murmur, Atri... OMIM:614866
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Hajdu-Cheney Syndrome
Delayed puberty, Thin vermilion border, Patent ductus arteriosus, Periodontitis, Open bite, Narro... ORPHA:955
Okamoto Syndrome
Redundant neck skin, Anal stenosis, Abnormal left ventricle morphology, Webbed neck, Primum atria... ORPHA:2729
Trichohepatoenteric Syndrome 1
Polyhydramnios, Aortic regurgitation, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal ... OMIM:222470
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aortic regurgitation, Limb hypertonia OMIM:609460
Leptospirosis
Pleural effusion, Hypotension, Retinal hemorrhage, Pericarditis, Rhabdomyolysis, Subconjunctival ... ORPHA:509
Microphthalmia, Syndromic 2
Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Umbilical hernia, L... OMIM:300166
Phelan-Mcdermid Syndrome
Palpebral edema, Ventricular septal defect, Lymphedema, Patent ductus arteriosus OMIM:606232
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Pul... OMIM:301030
Elliptocytosis 1
Pallor OMIM:611804
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Aortic regurgitation, Arrhythmia OMIM:106300
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Jacobsen Syndrome
Abnormal palate morphology, Annular pancreas, Webbed neck, Duodenal atresia, Ectopic anus, Spina ... ORPHA:2308
Kaufman Oculocerebrofacial Syndrome
High palate, Narrow mouth, Intestinal malrotation, Carious teeth, Coarctation of aorta, Smooth ph... OMIM:244450
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Polyhydramnios, Abnormality of masticatory muscle, Weaknes... ORPHA:273
African Trypanosomiasis
Myocarditis, Congestive heart failure, Pericarditis, Arrhythmia, Third degree atrioventricular bl... ORPHA:3385
Leigh Syndrome
Congestive heart failure, Multiple joint contractures, Hypertrophic cardiomyopathy, Skeletal musc... ORPHA:506
Frank-Ter Haar Syndrome
Redundant neck skin, Dental malocclusion, Broad alveolar ridges, Patent foramen ovale, Gingival o... OMIM:249420
Aregenerative Anemia
Pallor ORPHA:101096
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Patent ductus arteriosus after birth at term, Prolonged QT interval ORPHA:529962
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Lower limb muscle weakness, Ventricular fibrillation, Rhabdomyolysis, Incr... ORPHA:79102
Amoebiasis Due To Free-Living Amoebae
Skin ulcer, Facial palsy, Myocardial necrosis, Cerebral edema, Arrhythmia ORPHA:68
Oculodentodigital Dysplasia
Camptodactyly of finger, Ventricular septal defect, Arrhythmia ORPHA:2710
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Prolonged QT interval, Webbed neck, Cardiomyopat... ORPHA:373
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid... ORPHA:2556
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Intestinal malrotation, Cleft palate, Microglossi... OMIM:263520
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, High, narrow palate, Adrenal hypoplasia, Ventricular septal defect, High pal... OMIM:214100
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Tricuspid regurgitation, Arrhythmia ORPHA:261211
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Diaphragmatic eventration OMIM:222448
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Camptodactyly, Aortic valve stenosis, Pericardial effu... OMIM:139210
7Q11.23 Microduplication Syndrome
Thin vermilion border, Dental malocclusion, Aortic aneurysm, Short philtrum, Short lingual frenul... ORPHA:96121
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Ventricular septal defect OMIM:615503
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Ectopic anus, Cryptorchidism, Pylor... OMIM:101200
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Aplasia of the epiglottis, Webbed neck, Bilateral cryptorchidism, Cleft pala... ORPHA:434179
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypotension, Dry skin, Arrhythmia ORPHA:428
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, High palate, Everted lower lip vermilion, Cryptorchidism, Deep philtrum, Um... OMIM:613884
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Aortic valve stenosis, Patent ductus arteriosus,... ORPHA:464306
Plague
Hematemesis, Skin ulcer, Hypotension, Dry skin, Arrhythmia, Tachycardia, Endocarditis, Edema ORPHA:707
Rubinstein-Taybi Syndrome 1
Dental crowding, Low posterior hairline, Premature thelarche, Mitral valve prolapse, Narrow palat... OMIM:180849
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:79345
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrops fetalis, Coarctation of aorta, Ventricular septal defect ORPHA:268249
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Redundant skin, Arrhythmia OMIM:250220
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Patent ductus arteriosus, Bradycardia OMIM:617248
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Wide mouth, Cryptorchidism, Duodenal atresia OMIM:617798
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hematochezia OMIM:619575
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Atrial septal defect, Arrhythmia OMIM:164200
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Cardiomyopathy, Dry skin ORPHA:33364
Marshall-Smith Syndrome
Hypertension, Premature ventricular contraction, Dysplastic aortic valve, Pulmonary arterial hype... OMIM:602535
Coffin-Siris Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, Papillary thyroid carcinoma, Cryptorchidism... ORPHA:1465
Larsen Syndrome
Spina bifida occulta, Aortic aneurysm, Cryptorchidism, Cleft upper lip, Cleft palate, Hypodontia,... OMIM:150250
Yunis-Varon Syndrome
Redundant neck skin, Hydrops fetalis, Polyhydramnios, Hypertension, Cardiomyopathy, Renal artery ... ORPHA:3472
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Arrhythmia ORPHA:3220
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Smith-Lemli-Opitz Syndrome
Supernumerary tooth, Advanced eruption of teeth, Atrioventricular canal defect, Aganglionic megac... ORPHA:818
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Supernumerary tooth, Aplasia of the epiglottis, Cryptorchidism, Cleft li... OMIM:615948
Williams Syndrome
Abnormal carotid artery morphology, Redundant skin, Hypertension, Cerebral ischemia, Pulmonic ste... ORPHA:904
Hajdu-Cheney Syndrome
Premature loss of teeth, High palate, Narrow mouth, Cryptorchidism, Intestinal malrotation, Umbil... OMIM:102500
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Vascular dilatation, Facial palsy, Upper limb muscle hypoplasia, Atrial se... OMIM:607323
Codas Syndrome
Atrioventricular canal defect, Rectovaginal fistula, Delayed eruption of teeth, Anal atresia, Cry... OMIM:600373
Chromosome 16P13.3 Duplication Syndrome
Webbed neck, Microdontia, Cryptorchidism, Bifid uvula, Tetralogy of Fallot, Wide mouth, Tented up... OMIM:613458
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Muscular ventricular septal defect, Shoulder flexion contracture, Patent foramen oval... OMIM:210710
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Broad alveolar ridges, Patent foramen ovale, High palate, Furrowed tongue, Cryp... OMIM:616975
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Dry skin, Persistent left superior vena cava, A... OMIM:619268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta, Cardiac conduction abnormality, A... ORPHA:353281
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Lymphadenopathy, Accessory spleen, High palate, Splenomegaly, Ventricular septal defect, ... OMIM:619418
Zttk Syndrome
Thin vermilion border, Intestinal atresia, Short philtrum, High palate, Abnormality of the dentit... OMIM:617140
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Aortic root aneurysm, Patent foramen ovale, Pulmonary arterial hyperten... ORPHA:444077
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Dilated cardiomyopathy, Dehydration, Bradycardia ORPHA:79404
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Meckel diverticulum, Leukocytosis, Spina bifida, Coarctati... OMIM:274000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary arterial hypertensio... OMIM:143095
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Aortic root aneurysm, Aplasia/Hypoplasia of the abdominal wall musculature,... ORPHA:285
Keutel Syndrome
Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Ventricular septal defect, Peripher... OMIM:245150
Charge Syndrome
Delayed puberty, Tracheoesophageal fistula, Pulmonic stenosis, Dysplastic tricuspid valve, Umbili... OMIM:214800
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Prolonged QT interval, Webbed neck, Coarctation of aorta, Muscle hypertrop... ORPHA:1772
Limb Body Wall Complex
Short umbilical cord, Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Abnormal ... ORPHA:2369
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Pyloric stenosis, Thrombocytopenia, Short neck, Atrial septal d... OMIM:147791
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Camptodactyly of... OMIM:256040
Renpenning Syndrome 1
Situs inversus totalis, Short philtrum, High palate, Narrow mouth, Anal atresia, Decreased testic... OMIM:309500
Holoprosencephaly 14
Aortic valve atresia, Cleft palate, Double outlet right ventricle, Cleft lip, Ventricular septal ... OMIM:619895
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Hypoplastic aortic arch, Pat... OMIM:157800
Thauvin-Robinet-Faivre Syndrome
Mitral valve prolapse, Varicose veins, Ventricular septal defect, Pedal edema, Macroglossia OMIM:617107
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Narrow mouth, Pylo... ORPHA:2461
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus OMIM:616682
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Hypoplastic aortic arch, Truncus arte... ORPHA:508488
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Dry skin, Bradycardia OMIM:218700
Arboleda-Tham Syndrome
Webbed neck, Lower limb amyotrophy, Pulmonic stenosis, Lower limb hypertonia, Secundum atrial sep... OMIM:616268
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Ventricular septal defect, Interrupted inferior ... OMIM:618846
Liver Disease, Severe Congenital
Left atrial enlargement, Pulmonary edema, Dermal translucency, Patent foramen ovale, Ascites, Sys... OMIM:619991
Ivic Syndrome
Arrhythmia ORPHA:2307
Koolen-De Vries Syndrome Due To A Point Mutation
Aortic aneurysm, Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Hand muscle atroph... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Aortic aneurysm, Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Hand muscle atroph... ORPHA:363958
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Broad neck, Anencephaly, Accessory spleen, Cleft palate, Median cleft u... OMIM:236680
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Narrow mouth, Everted lower lip vermilion, Cryptorchidism, Pulmonary artery sten... ORPHA:459070
Pallister-Hall Syndrome
Thyroid hypoplasia, Bifid uvula, Umbilical hernia, Central adrenal insufficiency, Accessory oral ... ORPHA:672
Wolf-Hirschhorn Syndrome
Orofacial cleft, Webbed neck, Short philtrum, Hypodontia, Accessory spleen, Low posterior hairlin... OMIM:194190
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Widely spaced teeth, Solitary median maxillary central incisor, Short philtrum, Dental crowding, ... OMIM:301044
Mowat-Wilson Syndrome
Aganglionic megacolon, Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Cryptor... OMIM:235730
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Polyhydramnios, Patent foramen ovale, Pulmonic stenosis, A... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Polyhydramnios, Patent foramen ovale, Pulmonic stenosis, A... ORPHA:353277
Schwartz-Jampel Syndrome
Polyhydramnios, Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertr... ORPHA:800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Polyhydramnios, Abnormal aortic arch morphology, Diastasis recti, Hypertroph... ORPHA:96334
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ... ORPHA:363700
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, High palate, Abnormality of the dentition, Anal atresia, Prem... OMIM:147920
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Right aortic arch, Cleft pa... ORPHA:513456
Microphthalmia, Syndromic 3
Esophageal atresia, Anterior pituitary hypoplasia, Cryptorchidism, Patent ductus arteriosus, Vent... OMIM:206900
Coffin-Siris Syndrome 1
Duodenal ulcer, Microdontia, Intestinal malrotation, Wide mouth, Umbilical hernia, Long philtrum,... OMIM:135900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Abnormal heart morphology, Ventricular septal defect... ORPHA:268261
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Cleft upper lip, Velopharyngeal insufficiency, Cleft palate, Tetralogy of ... OMIM:154400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Flexion contracture, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitr... OMIM:271640
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620558
Femoral-Facial Syndrome
Maternal diabetes, Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Cryptorchi... OMIM:134780
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Broad alveolar ridges, Dental crowding, Hypertrophic cardiomyopathy, Crypt... OMIM:270400
Woodhouse-Sakati Syndrome
Scaling skin, Abnormal T-wave ORPHA:3464
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Long philtrum, Orofacial cleft, Aortic root aneurysm, Noncompaction cardiom... OMIM:607872
Omodysplasia 1
Cryptorchidism, Pulmonary artery stenosis, Umbilical hernia, Long philtrum, Short neck, Atrial se... OMIM:258315
Cockayne Syndrome A
Hypertension, Dry skin, Hip contracture, Arrhythmia, Persistent left superior vena cava OMIM:216400
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Pulmonary artery atresia, Long philtrum, Cleft lip, Ventricular se... OMIM:620568
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta, Abnormal right ventricle morphology, Chronic neutropenia, Transient neutrop... ORPHA:500095
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Peters-Plus Syndrome
Bilobate gallbladder, Broad neck, Pulmonic stenosis, Umbilical hernia, Long philtrum, Agenesis of... OMIM:261540
Alagille Syndrome 1
Stroke, Renal artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Atrial septal defect, V... OMIM:118450
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Macroglossia, Bradycardia ORPHA:226307
Cornelia De Lange Syndrome
Delayed puberty, Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Hypoplast... ORPHA:199
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abnormal hea... ORPHA:438213
Ulnar-Mammary Syndrome
Ventricular septal defect, Elbow flexion contracture, Arrhythmia OMIM:181450
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Retinal arteriolar tortuosity, Stroke, Hypertension, Renal ... OMIM:194050
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Aortic... OMIM:616462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Anemia, Ankyloglossia, Bile duct proliferation, Tetralogy of Fallot, Splenom... OMIM:619525
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Proteus Syndrome
Abnormality of the neck, Sirenomelia, Ovarian neoplasm, Diabetes insipidus, Testicular neoplasm, ... ORPHA:744
Cockayne Syndrome B
Hypertension, Dry skin, Arrhythmia OMIM:133540
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arthrogryposis multiplex congenita, Arrhythmia ORPHA:163746
Early Infantile Epileptic Encephalopathy
Precocious puberty, Ventricular septal defect, Cleft palate, Umbilical hernia ORPHA:1934
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia ORPHA:828
Proboscis Lateralis
Orofacial cleft, Agenesis of canine, High palate, Patent ductus arteriosus, Long philtrum, Ventri... ORPHA:141099
Sarcoidosis
Heart block, Abnormal cardiac ventricular function, Chylothorax, Facial palsy, Pleural effusion, ... ORPHA:797
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad neck, High palate, Cryptorchidism, Carious teeth, Downturned corners of mouth, Thick vermil... OMIM:619522
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Vascular dilatation, Ascites, Portal hypertension, ... OMIM:243800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bifid uvula... ORPHA:261552
Craniotubular Dysplasia, Ikegawa Type
Long philtrum, Thick upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion OMIM:619727
Yunis-Varon Syndrome
Redundant neck skin, Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, Pulmo... OMIM:216340
Pallister-Killian Syndrome
Everted lower lip vermilion, Aortic valve stenosis, Intestinal malrotation, Bifid uvula, Wide mou... OMIM:601803
Penile Agenesis
Rectal fistula, Maternal diabetes, Anal atresia, Tracheoesophageal fistula, Cryptorchidism, Atria... ORPHA:49
Roberts-Sc Phocomelia Syndrome
Accessory spleen, High palate, Cryptorchidism, Short neck, Cleft upper lip, Cleft palate, Cystic ... OMIM:268300
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Craniofacial Microsomia 1
Occipital encephalocele, Transverse facial cleft, Branchial anomaly, Right aortic arch, Cleft upp... OMIM:164210
Genitopatellar Syndrome
Anal stenosis, Delayed eruption of teeth, Anal atresia, Cryptorchidism, Hypothyroidism, Malrotati... OMIM:606170
Townes-Brocks Syndrome 1
Anal stenosis, Rectovaginal fistula, Tracheoesophageal fistula, Rectoperineal fistula, Anal atres... OMIM:107480
Sotos Syndrome
Ankle flexion contracture, Aortic aneurysm, Bilateral camptodactyly, Hip contracture, Abnormal he... ORPHA:821
Doors Syndrome
Double outlet right ventricle, Polyhydramnios ORPHA:79500
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229

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 Smad7

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 Smad7.

No publications found that use IMPC mice or data for Smad7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Smad7tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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