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Gene: Tbx5 MGI:102541

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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:
T-box 5
Synonyms:
N/A

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 Tbx5 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 predicted to be associated to Tbx5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Holt-Oram Syndrome
Finger syndactyly, Paroxysmal atrial fibrillation, Ventricular septal defect, Down-sloping should... ORPHA:392
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... ORPHA:98909
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Nonimmune hydrops fetalis, Cardiac arr... OMIM:618052
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... ORPHA:1041
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome, Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd fi... OMIM:140450
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fetalis... OMIM:619433
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... OMIM:255160
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block ORPHA:480
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops feta... OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy OMIM:613158
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, ... OMIM:618815
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia OMIM:255100
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98853
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Nephrosialidosis
Pericardial effusion, Ascites, Death in childhood OMIM:256150
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Scleroti... ORPHA:371428
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormal... OMIM:608540
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology... ORPHA:1937
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Atrial sep... ORPHA:101028
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... OMIM:605676
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Death in infancy, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlarg... OMIM:619424
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Single transverse palmar crease, Brachydactyly, Adducted thumb OMIM:620062
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... OMIM:601927
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Pulmonic stenosis, Atrial septal defect, Abnormal 3r... OMIM:249670
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Premature birth, Aplasia/hypoplasia involv... ORPHA:40366
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... OMIM:617021
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... OMIM:600987
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... ORPHA:391646
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Short toe, Perimembranous ventricular septal defect, Transposition of the great arter... OMIM:617877
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Congestive heart failure, Hydrops fe... OMIM:253250
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly OMIM:614684
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Congenital Disorder Of Glycosylation, Type Ih
Decreased fetal movement, Hepatomegaly, Death in infancy, Edema, Perimembranous ventricular septa... OMIM:608104
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... ORPHA:90308
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Sandestig-Stefanova Syndrome
Decreased fetal movement, Prominent metopic ridge, Rocker bottom foot, Muscular ventricular septa... OMIM:618804
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death OMIM:276822
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... ORPHA:163596
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Micromelia, Squared iliac bones, Flared metaphysi... OMIM:215045
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Spinal Muscular Atrophy, Type I
Atrial septal defect, Decreased fetal movement, Ventricular septal defect, Death in childhood OMIM:253300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Death in infancy, Rocker bottom foot, Polyhydramnios, Tapered finger, P... OMIM:620070
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger ORPHA:2515
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Joint contracture of the 5th finger, Atrioventricular block OMIM:614407
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios, Cardiomegaly, Decreased... OMIM:616897
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect, Absent thumb OMIM:615272
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Sonoda Syndrome
High axial triradius, Ventricular septal defect OMIM:270460
Pseudoachondroplasia
Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Increased laxity of ankles... ORPHA:750
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Epiphyse... OMIM:256550
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Overlapping toe, Muscular ventricular septal defect, Abnormal heart morpholo... ORPHA:363444
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Lymphedema, Pericardial effusion, Cardiomegaly... OMIM:239850
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple... OMIM:232500
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Hepatomegaly, Edema, Pericardial effusion, Hip dislocation, Hepatosplen... OMIM:608776
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Congenital-Onset Steinert Myotonic Dystrophy
Decreased fetal movement, Bundle branch block, Premature birth, Polyhydramnios, First degree atri... ORPHA:589821
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... OMIM:615297
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Ventricular septal defect, Death in infancy OMIM:614876
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Variegate Porphyria
Tachycardia OMIM:176200
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios... ORPHA:1263
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydrops fetalis, Limb ... ORPHA:2204
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, D... OMIM:620265
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... ORPHA:1388
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri... OMIM:618569
Myotonic Dystrophy 1
Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Grange Syndrome
Aortic regurgitation, Syndactyly, Ventricular septal defect, Hypertension, Short palm ORPHA:79094
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Nemaline Myopathy 9
Breech presentation, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence OMIM:615731
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Atrioventricu... ORPHA:93317
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Chromosome 9P Deletion Syndrome
Long toe, Ventricular septal defect, Sandal gap, Hallux varus, Tapered finger, Heart murmur, Peri... OMIM:158170
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect ORPHA:1918
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
White Forelock With Malformations
Atrial septal defect OMIM:277740
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardi... OMIM:620167
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Adducted thum... OMIM:617022
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Postaxial ha... ORPHA:83473
Meckel Syndrome, Type 8
Pericardial effusion, Anhydramnios, Polydactyly, Talipes equinovarus, Enlarged kidney OMIM:613885
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morph... ORPHA:85166
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations OMIM:188580
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... OMIM:263630
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... OMIM:619702
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect, Single transverse palmar crease OMIM:618354
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Mmep Syndrome
Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... OMIM:619636
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Hypoplastic ilia, Breech presentation, Micromelia, Hydrops fetalis, Stillb... OMIM:600972
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic pubi... ORPHA:1865
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... ORPHA:292
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios ORPHA:3469
Fetal Gaucher Disease
Hepatomegaly, Decreased fetal movement, Death in infancy, Fetal akinesia sequence, Splenomegaly, ... ORPHA:85212
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve ste... ORPHA:3449
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Cardiac conduction abnormality, Elbow flexion contractu... ORPHA:97244
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Pseudoachondroplasia
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... OMIM:177170
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomeg... ORPHA:36412
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Mitra... OMIM:620244
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Gitelman Syndrome
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-normal blood pressure, Go... ORPHA:358
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Generalized amyotrophy... OMIM:602668
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Hand polydactyly, Transposition of t... ORPHA:261243
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death OMIM:618839
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... OMIM:230500
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Death in infancy, Secundum atrial septal defect, Splenomegaly, Congestive heart fai... OMIM:608779
Noonan Syndrome 12
Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Tetralogy of Fallot, Supr... OMIM:618624
Okamoto Syndrome
Prominent metopic ridge, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphol... ORPHA:2729
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hyperten... ORPHA:367
Atrophoderma Vermiculata
Heart block ORPHA:79100
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Abnormality of the palmar creas... OMIM:618652
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... ORPHA:199241
Feingold Syndrome Type 1
Toe syndactyly, Tricuspid stenosis, Short middle phalanx of the 5th finger, Short middle phalanx ... ORPHA:391641
Intellectual Developmental Disorder, Autosomal Recessive 73
Clinodactyly of the 5th finger, Decreased fetal movement, Ventricular septal defect, Single trans... OMIM:619717
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardio... OMIM:618835
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Ventricular septal defect, Sagittal craniosynostosis, Bowing of the legs, ... OMIM:617063
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... OMIM:300280
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, L... OMIM:235510
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary a... OMIM:616028
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Ventricular septal defect, Aplasia/Hypoplasia... OMIM:113000
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Muscle fi... ORPHA:449285
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Sotos Syndrome
Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Long met... OMIM:117550
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... OMIM:614302
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... OMIM:609015
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Ventricular septal defect, Polyhydramnios, Camptodactyly of finge... ORPHA:261344
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pulmonic stenosis, Atrial... OMIM:611816
Desbuquois Syndrome
Genu recurvatum, Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocatio... ORPHA:1425
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Trisomy 13
Ventricular septal defect, Postaxial hand polydactyly, Hydrops fetalis, Abnormal pelvic girdle bo... ORPHA:3378
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Gm1 Gangliosidosis
Ventricular septal defect, Premature birth, Camptodactyly of finger, Splenomegaly, Congestive hea... ORPHA:354
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Single t... OMIM:618870
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... OMIM:620393
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Alkuraya-Kucinskas Syndrome
Overlapping toe, Edema, Pericardial effusion, Clinodactyly, Cutaneous syndactyly, Talipes equinov... OMIM:617822
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Alg12-Cdg
Premature birth, Sandal gap, Edema, Polyhydramnios, Ulnar deviation of the wrist, Long fingers, M... ORPHA:79324
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Microme... ORPHA:99776
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Hypertension And Brachydactyly Syndrome
Short metacarpal, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Type E brachydactyly OMIM:112410
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... OMIM:616589
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Premature birth, Polyhydram... ORPHA:2256
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Short metacarpal, Ventricular septal defect, Prematur... OMIM:616651
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol... OMIM:263520
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Ab... ORPHA:1120
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, ... OMIM:235200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w... OMIM:616479
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis... OMIM:613320
Monosomy 13Q34
Common atrium, Pulmonic stenosis ORPHA:96168
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Short palm ORPHA:93299
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Congestive hea... OMIM:166210
Schneckenbecken Dysplasia
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail... OMIM:269250
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... OMIM:620294
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Talipes equi... ORPHA:93298
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... ORPHA:2847
Alg9-Cdg
Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... ORPHA:79328
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Lethal Congenital Contracture Syndrome 2
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy OMIM:607598
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Epistaxis, Abn... ORPHA:464329
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Decreased fetal movement, Ventricular septal defect, Tarsal synostosis, Muscul... OMIM:157800
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Short thumb, Mitral valve prolapse, Mitral re... OMIM:612561
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Osteoarthritis, Pedal edema, Pulmonary arterial... ORPHA:77259
Mgat2-Cdg
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Reflex asystolic syncope, ... ORPHA:79329
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites ORPHA:2123
Brachydactyly-Arterial Hypertension Syndrome
Hypertension, Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping finge... OMIM:616738
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Stiff-Person Syndrome
Tachycardia, Proximal limb muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Axia... OMIM:184850
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Single transverse palmar crease, Short... OMIM:614947
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Lower limb muscle weakness OMIM:619737
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep... OMIM:616716
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension OMIM:619064
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, L... OMIM:300855
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Congestive hear... ORPHA:324410
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... OMIM:216100
Steinert Myotonic Dystrophy
Decreased fetal movement, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic d... ORPHA:273
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Toe clinodactyly ORPHA:261120
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Short thumb, Ab... ORPHA:401935
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Knee flexion contracture, Atrial septal defect, Wrist flexion contracture,... OMIM:121050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Miscarriage, Ventricular septal defect, Proxim... ORPHA:2438
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Micromelia ORPHA:932
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... ORPHA:3426
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia ORPHA:500533
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Achondrogenesis, Type Ii
Broad long bones, Polyhydramnios, Edema, Short tubular bones of the hand, Hydrops fetalis, Short ... OMIM:200610
Poems Syndrome
Edema, Pericardial effusion, Metaphyseal sclerosis, Clubbing of fingers, Pulmonary arterial hyper... ORPHA:2905
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Car... ORPHA:3472
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Im... ORPHA:158687
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Greenberg Dysplasia
Polyhydramnios, Micromelia, Hydrops fetalis, Tetraphocomelia, Hypoplasia of the calcaneus, Neonat... OMIM:215140
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... OMIM:600001
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic steno... OMIM:615355
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... ORPHA:88630
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Patellar hypoplasia, Atrial septal de... OMIM:619189
Campomelia, Cumming Type
Hepatomegaly, Death in infancy, Brachydactyly, Bowing of the long bones, Micromelia, Lymphedema, ... ORPHA:1318
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Flared iliac w... ORPHA:79255
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Double outlet right ventricle, Single umbilical artery, Hy... OMIM:220210
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hepatosplenomegaly,... OMIM:619487
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of the upper limb, Ascites ORPHA:834
Halperin-Birk Syndrome
Perimembranous ventricular septal defect, Hip dislocation, Talipes equinovarus, Death in childhood OMIM:618651
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Single transverse palmar crease, Edema,... OMIM:618348
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Metatarsus adductus, Splenomegaly, Hydrops fetalis... OMIM:253220
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... ORPHA:457395
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... ORPHA:94066
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Raynaud phenomenon, Arthritis, Pleural effusion, Ascites ORPHA:93552
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Hepatomegaly, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of th... ORPHA:1842
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Polyhydramnios, Bowing of the legs,... OMIM:200600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Long fingers, Increased nuchal translucency, Hypotension, At... OMIM:615668
Woods Syndrome
3-4 finger cutaneous syndactyly, Limited elbow extension, Ventricular septal defect, Single trans... OMIM:615236
Congenital Myopathy 11
Decreased fetal movement, Polyhydramnios, Breech presentation, Atrial septal defect, Patent foram... OMIM:619967
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Overlapping toe, Pericardial effusion, Clinodactyly,... OMIM:139210
Leopard Syndrome 1
Bundle branch block, Scapular winging, Limited elbow movement, Complete atrioventricular canal de... OMIM:151100
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ... ORPHA:185
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... OMIM:617974
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation OMIM:615476
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Clinodactyly of the 5th finger OMIM:618974
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Tapered finger, Coxa valga, Perimembranous ventricular septal defect, ... OMIM:301040
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Hallux valgus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus cal... ORPHA:536532
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... OMIM:143095
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Ventricular septal defect OMIM:616816
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Premature rupture of membranes, ... OMIM:619573
Hereditary Coproporphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia ORPHA:79273
Anauxetic Dysplasia 1
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... OMIM:607095
Alg8-Cdg
Brachydactyly, Premature birth, Edema, Hydrops fetalis, Talipes equinovarus, Camptodactyly, Ascit... ORPHA:79325
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph... ORPHA:93360
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Muscular ventricular septal defect OMIM:619227
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot OMIM:618506
Winchester Syndrome
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion,... OMIM:618183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Death in infancy, Nonimmune hydrops fetalis, Edema, Pericardial effus... OMIM:212065
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Short foot ORPHA:228399
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Acromesomelic Dysplasia 2A
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... OMIM:200700
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Epistaxis, Lymphedema, High-output congestive heart failure, Congestiv... ORPHA:137667
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly ORPHA:88643
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... OMIM:212140
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Refsum Disease
Short metacarpal, Heart block, Splenomegaly, Cardiomyopathy, Hammertoe, Abnormal epiphysis morpho... ORPHA:773
Acrocardiofacial Syndrome
Joint dislocation, Death in infancy, Finger syndactyly, Hallux valgus, Ventricular septal defect,... ORPHA:2008
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... OMIM:608154
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Ventricular septal defect, Sagittal craniosynostosis, Lambdoidal ... OMIM:314320
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion ORPHA:1666
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, S... ORPHA:781
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Short metacarpal, Short toe, Subvalvular aortic stenosis, Arrhythmia, Sh... OMIM:600430
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... OMIM:614008
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Hypertension, Osteolysis involving t... OMIM:166300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Prominent fingertip pads, Brachydactyly, Mesoaxial foot polydactyly, Bicusp... OMIM:612474
Lymphoproliferative Syndrome 1
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly OMIM:613011
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Atrial septal ... OMIM:201000
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Joint contracture of the hand, Clinodactyly of the 5th finger, Pulmoni... OMIM:179613
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Mitral regurgitation, Talipes equinovarus, Camptodacty... OMIM:301039
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... OMIM:617478
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger OMIM:601355
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Preax... OMIM:618142
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Death in childhood OMIM:618321
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... ORPHA:93267
Aase-Smith Syndrome I
Slender finger, Death in infancy, Ventricular septal defect, Talipes equinovarus OMIM:147800
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood OMIM:614582
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Metopic suture patent to nasal root, Fifth finger distal phalanx clino... ORPHA:3369
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epip... OMIM:226980
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy OMIM:619322
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... OMIM:616730
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdomyolysis, Dilat... OMIM:614921
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Single umbilical artery, Ventricular septal defect, Hypoplastic left heart, Micromelia ORPHA:2772
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... OMIM:250220
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect, Death in infancy OMIM:613730
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh... OMIM:614851
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Talip... OMIM:614815
Cardiospondylocarpofacial Syndrome
Brachydactyly, Mitral valve prolapse, Mitral regurgitation, Short palm, Synostosis of carpal bones ORPHA:3238
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia, Synostosis of ca... ORPHA:3191
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... ORPHA:1225
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, At... ORPHA:581
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture OMIM:619115
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Hepatomegaly, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:608013
Mucopolysaccharidosis Type 7
Lymphedema, Metatarsus adductus, Splenomegaly, Hydrops fetalis, Epiphyseal stippling, Abnormal hi... ORPHA:584
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... ORPHA:3138
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Premature birth, Cardiomegaly ORPHA:858
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Micromelia, Aplastic clavicle, Postaxial polydactyly, Preaxial polydactyly, Hydro... OMIM:616546
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Odontochondrodysplasia 1
Death in infancy, Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widen... OMIM:184260
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cerebra... OMIM:617713
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Myocarditis, Congestive heart f... ORPHA:466677
Fumarase Deficiency
Ascites, Bilateral fetal pyelectasis, Perimembranous ventricular septal defect, Polyhydramnios OMIM:606812
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Knee flexion contracture, Mitral regurgitation,... OMIM:603387
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Tyshchenko Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Pulmonic stenosis, Atrial septal defect OMIM:615102
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
17Q12 Microduplication Syndrome
Atrial septal defect, Finger syndactyly, Toe syndactyly, Polyhydramnios ORPHA:261272
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation OMIM:619083
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Coxa valga, Splenomegal... OMIM:608149
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication OMIM:259900
Pseudo-Torch Syndrome 3
Death in infancy, Premature birth, Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... OMIM:272440
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Camptodactyly of fing... OMIM:602782
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... OMIM:132400
Generalized Arterial Calcification Of Infancy
Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones,... ORPHA:51608
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibular epiphy... ORPHA:96190
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Ventricular septal defect, Hydrops fetalis, Short palm ORPHA:268249
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Sagittal craniosynostosis, Patellar subluxati... OMIM:615879
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Polyhydramnios, Hypoplastic iliac wing, Prominent fingertip pads... OMIM:180849
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Cranioectodermal Dysplasia 2
Hepatomegaly, Syndactyly, Rhizomelia, Polyhydramnios, Craniosynostosis, Splenomegaly, Postaxial h... OMIM:613610
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy, Arachnodactyly ORPHA:93946
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe... OMIM:265380
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:619149
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejec... OMIM:201475
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Portal hypertension, Ca... ORPHA:465508
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Eiken Syndrome
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... ORPHA:79106
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular... OMIM:252600
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Polydactyly OMIM:602501
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, La... OMIM:271640
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... ORPHA:435638
Larsen Syndrome
Vertebral fusion, Short metacarpal, Ventricular septal defect, Spatulate thumbs, Elbow dislocatio... OMIM:150250
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly OMIM:619576
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... OMIM:609616
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap,... ORPHA:254346
3C Syndrome
Death in infancy, Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology,... ORPHA:7
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Atrial septal defect... ORPHA:921
Aymé-Gripp Syndrome
Pericarditis, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Peri... ORPHA:1272
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Polyhydramnios, Proximal placement of thumb, Absent radius, Hand pol... OMIM:314390
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Increased nuchal translucen... OMIM:618494
Alagille Syndrome 2
Atrial septal defect, Hypertension, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... OMIM:600373
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... ORPHA:896
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Overlapping toe, Polyhydramnios ORPHA:466926
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... ORPHA:46627
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Farber Disease
Abnormality of the knee, Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fe... ORPHA:333
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Edema, Hepatosplenomegaly, Abnormal heart morphology, Telangiectasia,... ORPHA:93400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Polyhydramnios, Postaxial polydactyly, Preaxial polydactyl... OMIM:615503
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... OMIM:617201
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium... OMIM:265000
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Short distal phalanx of finger ORPHA:85202
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Atrial septal defect, Clinodactyly, Patent foramen oval... OMIM:614261
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Finger clinodactyly, Radioulnar sy... ORPHA:99330
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Serotonin Syndrome
Hypertension, Tachycardia, Rhabdomyolysis, Hypotension ORPHA:43116
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Flared metaphysis, Elbow flexion contractur... OMIM:184252
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Premature birth, Postaxial polydactyly, Polyhydramnios, Fetal pericard... OMIM:219730
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Coffin-Siris Syndrome 7
Brachydactyly, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Sagittal cranios... OMIM:618027
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Tetralogy o... ORPHA:1913
X Small Rings
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, Fetal pyelectas... ORPHA:96201
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... ORPHA:1517
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... ORPHA:99827
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Tularemia
Tachycardia ORPHA:3392
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th finger, Atri... OMIM:619123
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Abnormal left ventricle mo... OMIM:300845
Cap Myopathy
Reduced systolic function, Sinus tachycardia, Mitral valve prolapse ORPHA:171881
Acromesomelic Dysplasia, Grebe Type
Death in infancy, Bowing of the long bones, Aplasia/Hypoplasia of the thumb, Brachydactyly, Tarsa... ORPHA:2098
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal ... ORPHA:85438
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Bilateral single t... ORPHA:2516
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Abnormal metaphysis ... ORPHA:290
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Alpha-Thalassemia
Splenomegaly, Hydrops fetalis ORPHA:846
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cone-shaped ep... OMIM:615630
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... OMIM:619142
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Sandal gap, Micromelia, Genu valgum, Atrial septal defect ORPHA:1035
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Lymphedema, Pericardial effusion, S... ORPHA:2136
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Ulnar devi... ORPHA:2876
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Ventricular septal defect OMIM:214300
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Drumstick terminal phalanges, Death in childhood, Hypertrophic cardiom... OMIM:612938
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Small hand, Short foot, Brachydactyly OMIM:617450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Death in infancy, Tapered toe, Cardiomegaly, Antenatal intracerebral hemo... OMIM:608836
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Hydrops fetalis ORPHA:766
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy... OMIM:216340
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology ORPHA:1166
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,... OMIM:616564
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... OMIM:259600
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph... OMIM:620073
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Joint dislocation, Tricuspid regurgitation, Abnorm... ORPHA:230851
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 5th finger, Clinodact... ORPHA:521308
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia ORPHA:139411
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Prominent fingertip pads, Prominent metopic ridge, Bicuspid aortic valve, Arachnodactyly, Postaxi... OMIM:619721
Acromicric Dysplasia
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... OMIM:102370
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Nonimmune hydrops fetalis, Craniosynostosis, Brachydactyly OMIM:618265
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia... ORPHA:404443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Hip contracture, Polyhydramnios, Bre... OMIM:300868
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Multiple joint dislocation, Knee dislocation, Shoulder dislo... OMIM:245600
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease, Slender finger... ORPHA:329224
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hematochezia, H... OMIM:615846
Mosaic Trisomy 1
Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, ... ORPHA:1692
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Long fingers, Cutan... OMIM:618316
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Hepatomegaly, Ventricular septal defect, Joint dislocation OMIM:620210
Leptospirosis
Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage, Subconjunc... ORPHA:509
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Wrinkly Skin Syndrome
Scapular winging, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Muscula... OMIM:278250
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Premature birth, Rhizomelia, Polyhydramnios, Aplastic... ORPHA:50945
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Polyhydramnios, Micromelia, Hypoplastic ilia, Abnormal sac... ORPHA:1860
Ogden Syndrome
Ventricular septal defect, Broad hallux, Cardiogenic shock, Arrhythmia, Delayed cranial suture cl... ORPHA:276432
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Rett Syndrome
Skeletal muscle atrophy, Prolonged QTc interval, Abnormal T-wave OMIM:312750
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect OMIM:245552
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Hepatomegaly, R... ORPHA:175
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge... ORPHA:3306
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th m... OMIM:169400
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Single umbilical arter... ORPHA:210122
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Martsolf Syndrome 1
Short metacarpal, Cardiac arrest, Metatarsus adductus, Congestive heart failure, Short toe, Osteo... OMIM:212720
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Iliac c... ORPHA:239
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Neurodegeneration And Seizures Due To Copper Transport Defect
Thickened nuchal skin fold, Tricuspid regurgitation, Short femur, Cardiomegaly, Talipes equinovar... OMIM:620306
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertension, Mitral valve ... OMIM:620233
Al-Raqad Syndrome
Atrial septal defect, Sandal gap, Brachydactyly OMIM:616459
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Telangiectasia, Atrial... OMIM:606003
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Oligohydramnios, Dehydration, Hip dysplasia, Atrial ... OMIM:208085
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia OMIM:618067
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Single transverse palmar crease, 2-3 toe syndactyly, Clubbing of toes, Clubbing... ORPHA:3304
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly ORPHA:3137
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Single transverse palmar crease, Polydactyly, Atrial septal defect, Cl... OMIM:618950
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage OMIM:617397
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Epiphyseal dysplasia, Tricuspid regurgitation, Sinus tachycardia, Splenomegaly, Met... OMIM:253200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Single umbilical artery, Ventricular septal defect OMIM:617635
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Polyhydramnios, Wrist swelling, Slender long bone, Metacarpal osteolysis... ORPHA:2774
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... OMIM:194350
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... OMIM:614823
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Foot oligodactyly OMIM:601357
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Short 5th finger, Clinodactyly of the 5th ... OMIM:220500
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abnormalities ORPHA:480864
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Craniosynostosis, Co... OMIM:301056
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ... OMIM:607823
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Ventricular septal defec... ORPHA:505237
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Short toe, Cutaneous syndact... OMIM:617667
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Small hand, Talipes equinovarus, Camptodactyly,... OMIM:619980
Ritscher-Schinzel Syndrome 3
Death in infancy, Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the... OMIM:619135
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Polyhydramnios, Edema, Mesomelic/rhizomelic limb s... ORPHA:2347
20Q13.33 Microdeletion Syndrome
Hallux valgus, Tapered finger, Abnormal cardiac ventricle morphology, Abnormal limb bone morpholo... ORPHA:261311
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... OMIM:620269
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Bilateral single transverse palmar creas... OMIM:619657
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Gaucher Disease
Joint dislocation, Hepatomegaly, Mitral valve calcification, Death in infancy, Abnormal heart val... ORPHA:355
19P13.3 Microduplication Syndrome
Ventricular septal defect, Long fingers, Hip dislocation, Hip dysplasia, Pulmonary arterial hyper... ORPHA:447980
Beck-Fahrner Syndrome
Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation an... ORPHA:2345
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Porphyria Variegata
Proximal muscle weakness in upper limbs, Tachycardia, Hypertension ORPHA:79473
Weiss-Kruszka Syndrome
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Single transverse palm... OMIM:618619
Galactosialidosis
Conjunctival telangiectasia, Visceromegaly, Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Postaxial hand polydactyly, Ventricular se... ORPHA:2519
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... OMIM:610797
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Cubitus valgu... OMIM:610733
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Ventricular septal defect, Polyhydramnios, Abnormal heart morphology ORPHA:254534
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly, Hypoplastic left heart, Apical muscular ventricular ... OMIM:301022
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 toe syndactyl... ORPHA:477817
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Premature birth, Craniosynostosis, Splenomegaly, Congestive he... ORPHA:525731
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... OMIM:619762
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio... OMIM:605275
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Short 5th finger, Ac... ORPHA:500159
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Hepatomegaly, Scapular winging, Hip contracture, Nonimmune hydrops feta... OMIM:620369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur ORPHA:2728
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Talipes equinovarus, Atrial septal defect,... ORPHA:2970
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Metaphyseal chondro... ORPHA:166035
Meckel Syndrome, Type 4
Atrial septal defect, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydac... OMIM:611134
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Split hand, Flat acetabular... OMIM:252500
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tapered finger, Talipes equin... OMIM:617452
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Peau d'orange, Death in infancy, Ventricular septal defect, Postaxial polydactyly, ... OMIM:614576
Down Syndrome
Prenatal double bubble sign, Single transverse palmar crease, Short palm, Hypoplastic iliac wing,... OMIM:190685
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Short palm, Scapular winging, Short metacarpal, Toe syndactyly, Bidirectio... OMIM:170390
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal pelvic girdle b... ORPHA:1458
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Emanuel Syndrome
Thickened nuchal skin fold, Decreased fetal movement, Congenital hip dislocation, Ventricular sep... OMIM:609029
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Mogs-Cdg
Hepatomegaly, Pulmonary edema, Polyhydramnios, Edema, Cardiomegaly, Hepatosplenomegaly, Atrial se... ORPHA:79330
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Ventricular septal defect, Rocker bottom foot, Telangiectasia, Short 2nd toe, Hip dysp... OMIM:612582
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... ORPHA:3255
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Contracture of th... ORPHA:83617
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, 2-3 toe syndactyly OMIM:608572
Bacterial Toxic-Shock Syndrome
Shock, Myositis, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Uln... ORPHA:3071
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... ORPHA:280365
Pearson Syndrome
Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Hydrops fetalis, Dehydration, Abnorma... ORPHA:699
Kapur-Toriello Syndrome
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Short thumb,... OMIM:244300
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
C Syndrome
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Postaxial ... OMIM:211750
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Sandal gap, Small hand, Short foot, Short finger, Radial deviation of ... OMIM:270450
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Postaxial foot polydactyly, Righ... OMIM:267010
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... OMIM:618395
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Premat... ORPHA:261330
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... ORPHA:2741
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Clinodactyly of t... OMIM:613398
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Cholera
Hypovolemic shock, Miscarriage, Tachycardia, Hypotension ORPHA:173
Megalencephaly
Atrial septal defect ORPHA:2477
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Polyhydramnios, Edema, Bowing of t... OMIM:269860
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... ORPHA:2496
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal hip bone morphology, Proximal placem... ORPHA:1488
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Clubbing, Arthritis, Pulmonary arterial hyperte... OMIM:181000
Sarcoidosis
Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula... ORPHA:797
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... ORPHA:99125
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contracture ORPHA:39812
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Prominent fingertip pads, Tricuspid regurgitation, Sandal gap, Dysp... OMIM:612863
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, Large hands, Broad thumb, ... ORPHA:1770
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Coxa magna, Sandal gap, Long fingers, Patellar hypoplasia, Clinodactyly of the 5th fing... ORPHA:261279
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect ORPHA:75389
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... OMIM:620113
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal heart morphology, Campto... ORPHA:369891
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Sagittal craniosynostosis, Small hand, Broad palm, Single umbilical ar... OMIM:145420
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... OMIM:609053
Renal Agenesis
Hypertension, Ventricular septal defect, Talipes equinovarus, Oligohydramnios ORPHA:411709
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Hip contracture, Ulnar deviation of the hand, Premature birth, Nonimmun... OMIM:208150
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... OMIM:618363
Alagille Syndrome
Hepatomegaly, Hypoplasia of the ulna, Telangiectasia of the skin, Ventricular septal defect, Hype... ORPHA:52
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Hydrops fetalis, Syndactyly OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Verheij Syndrome
Vertebral fusion, Truncus arteriosus, Ventricular septal defect, Hip dislocation, Short 5th finge... OMIM:615583
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension OMIM:614857
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Ventricular septal defect, Tarsal synostosis, Multiple pterygi... OMIM:178110
Hajdu-Cheney Syndrome
Ventricular septal defect, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ... OMIM:102500
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... ORPHA:319675
Chédiak-Higashi Syndrome
Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Pleural effusion ORPHA:167
Hamamy Syndrome
Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Craniosynostosis, Tapered fi... OMIM:611174
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Short thumb, Partial duplicat... ORPHA:124
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati... OMIM:617506
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Sagittal craniosynostosis, Death in childhood OMIM:616901
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... OMIM:615777
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Prominent metopic ridge, Broad hallux phalanx, Ventricular septal defect, Abno... ORPHA:251014
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ankle clonus, Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ... OMIM:617164
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micromelia, Situs inver... ORPHA:289
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Short thumb, 2-3 toe syndactyly, Truncus arteriosus OMIM:617516
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Seckel Syndrome 9
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Talipes equinovarus, Atrial ... OMIM:616777
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Mosaic Trisomy 16
Syndactyly, Ventricular septal defect, Premature birth, Single transverse palmar crease, Large pl... ORPHA:1708
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Death in infancy, Ventricular septal defect, Camptoda... ORPHA:373
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Single transverse palmar crease, Rhizomelia, Cra... OMIM:614114
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Death in infancy, Ventricular septal defect, Hip dysplasia, Right ventricular hyper... OMIM:613404
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Bohring-Opitz Syndrome
Joint dislocation, Syndactyly, Prominent metopic ridge, Ventricular septal defect, Overlapping to... OMIM:605039
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Sand... OMIM:607323
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia morphology, Split hand... ORPHA:1335
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Enlarged joints, Sandal gap, Abnormal pelvis bone morphol... ORPHA:1427
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... ORPHA:94093
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Sandal gap, Tapered... OMIM:617061
Atelosteogenesis Type Ii
Polyhydramnios, Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... ORPHA:56304
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, 2-3 toe syndactyly, Sin... OMIM:261990
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... OMIM:611717
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease... OMIM:610759
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormal EKG, Premature birth, Miscarriage, Myocarditis, Splenomegaly... ORPHA:3385
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Ventricular septal defect, Tapered finger, Flat acetabular roof, Fused cervical ve... OMIM:617159
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... ORPHA:2463
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites ORPHA:538
Omodysplasia 1
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Limited knee fl... OMIM:258315
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Postaxial hand polydactyly, Post... ORPHA:2473
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... OMIM:137940
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Polyhydram... OMIM:235255
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Knee flexion contracture, B... OMIM:617402
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, Flat capital fe... OMIM:612350
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Rh Deficiency Syndrome
Tachycardia, Miscarriage ORPHA:71275
Weill-Marchesani Syndrome 1
Ventricular septal defect, Broad palm, Mitral regurgitation, Pulmonic stenosis, Broad phalanges o... OMIM:277600
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... OMIM:615222
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Dysosteosclerosis
Abnormal metaphysis morphology, Ventricular septal defect, Coarse metaphyseal trabecularization ORPHA:1782
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios ORPHA:1923
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Hypertrophic cardiomyopathy, A... ORPHA:251071
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Hand... OMIM:616920
Axial Spondylometaphyseal Dysplasia
Iliac crest serration, Proximal femoral metaphyseal irregularity, Upper limb undergrowth, Coxa va... ORPHA:168549
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... OMIM:614613
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Emanuel Syndrome
Decreased fetal movement, Congenital hip dislocation, Ventricular septal defect, Truncus arterios... ORPHA:96170
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Cerebellofaciodental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Shortening of all dis... OMIM:616202
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Death in childhood OMIM:268800
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia, Hy... ORPHA:79276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Calf m... OMIM:253800
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... OMIM:180870
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:614300
Larsen Syndrome
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... ORPHA:503
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Micromelia, Situs ... ORPHA:1908
King-Denborough Syndrome
Decreased fetal movement, Ventricular septal defect, Breech presentation OMIM:619542
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, P... OMIM:300998
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... ORPHA:2710
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Pontocerebellar Hypoplasia, Type 8
Talipes valgus, Ventricular septal defect, Patent foramen ovale, Talipes equinovarus OMIM:614961
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus OMIM:615502
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, 2-3 toe syndactyly, Abnormal heart morphology, ... ORPHA:404440
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval ORPHA:94090
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone-shaped ... ORPHA:439822
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ... ORPHA:96097
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Atrial septal ... OMIM:610536
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Absence of the pulmonary valve, Ventricular septal defect, Proximal placement of ... OMIM:601808
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping fingers, Ventricular septal defect, Single transverse palmar creas... ORPHA:464738
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Femoral bowing, Tibial bowing, Knee flexion con... OMIM:601559
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Ventricular septal defect, Single transverse palmar crease, Low APGAR score ORPHA:79243
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Flexion contracture, Macroglossia, Death in childhood, Atrial septal de... OMIM:617303
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger morphology, Ra... ORPHA:436003
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Broad thumb, Brachydactyly OMIM:614526
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Fetal akin... OMIM:618143
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Wiedemann-Steiner Syndrome
Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Small ... OMIM:605130
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Clinodactyly of the 5th finger, Tal... OMIM:616652
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Neonatal dea... OMIM:601186
Frank-Ter Haar Syndrome
Bowing of the long bones, Wormian bones, Ventricular septal defect, Delayed cranial suture closur... OMIM:249420
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Camptodactyly ORPHA:459061
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short ph... OMIM:616894
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Postaxial polydactyly OMIM:614424
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Craniosynostosis, Metaphyseal... OMIM:250410
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe cli... ORPHA:217346
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:610338
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Campt... ORPHA:90652
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Ventricular septal... OMIM:614866
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Calcaneal epiphyseal stippling, Abnormal ossification involving the fe... ORPHA:79345
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Sagittal craniosynostosis, Left unilambdoid synostosis... OMIM:609942
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Congestive heart failure, Short metatarsal, Broad pa... OMIM:608328
Intellectual Developmental Disorder, Autosomal Dominant 48
Echogenic intracardiac focus, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Ventricular septal defect, Polyhydramnios, Hematochezia, Congenital pulmonary a... OMIM:243150
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Absent thumb, Bilateral radial aplasia, Single umbil... OMIM:300514
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Bent Bone Dysplasia Syndrome 2
Thickened nuchal skin fold, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowin... OMIM:620076
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension OMIM:613834
Cohen Syndrome
Decreased fetal movement, Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal ga... ORPHA:193
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left ... OMIM:100300
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Atrial septal def... OMIM:616449
Trichorhinophalangeal Syndrome, Type Iii
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... OMIM:190351
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... ORPHA:99646
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect OMIM:610832
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... OMIM:272950
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Transketolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:488618
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Short toe, Abnormal heart morphology, Delayed ossification of carpal bones, Short... OMIM:239300
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Dilated ... ORPHA:254892
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Craniosynostosis, Brachydactyly ORPHA:457193
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... ORPHA:221
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Cat Eye Syndrome
Ventricular septal defect, Absent radius, Hypoplastic left heart, Total anomalous pulmonary venou... OMIM:115470
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Conotruncal d... ORPHA:3097
Bohring-Opitz Syndrome
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Cardiomegaly, Bilateral... ORPHA:97297
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension OMIM:619758
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Pre... OMIM:616723
Neu-Laxova Syndrome 1
Polyhydramnios, Fetal akinesia sequence, Micromelia, Calcaneovalgus deformity, Neonatal death, Pt... OMIM:256520
Moebius Syndrome
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... OMIM:157900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... ORPHA:163979
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular... OMIM:618162
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect ORPHA:452
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Finger syndactyly, Ventricular septal defect, Polyhydramnios, 2-3 toe syndactyly, A... OMIM:620025
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Facial hypotonia OMIM:611087
Noonan Syndrome 13
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Keutel Syndrome
Miscarriage, Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, S... OMIM:245150
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part... OMIM:270100
Loeys-Dietz Syndrome 5
Scapular winging, Ventricular septal defect, Arachnodactyly, Osteoarthritis, Increased arm span, ... OMIM:615582
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Postaxial hand p... OMIM:264480
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Steel Syndrome
Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte... OMIM:615155
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Mitral regurgitat... ORPHA:261250
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal heart morpho... ORPHA:2209
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Bilate... ORPHA:1507
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Single interphalangeal crease of fifth fi... OMIM:257920
Diabetic Embryopathy
Single umbilical artery, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:1926
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Mitral valve prolapse... ORPHA:444072
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Short toe, Clinodactyly of the 5th finger, Atrial s... ORPHA:1519
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow... OMIM:207410
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Clinodactyly OMIM:617360
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Atrial septal... OMIM:309520
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Ventricular septal defect, Premat... OMIM:154400
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Congenital Tracheomalacia
Ventricular septal defect, Premature birth, Cardiomegaly, Partial anomalous pulmonary venous retu... ORPHA:95430
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Epistaxis ORPHA:293939
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morp... ORPHA:457279
Distal Deletion 19P
Long toe, Arachnodactyly, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve at... ORPHA:96129
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Tapered finger, Increased femoral anteversion, S... OMIM:609460
Rere-Related Neurodevelopmental Syndrome
Hip dysplasia, Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... OMIM:300967
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Overlapping toe, Lower extremity joint dislocation, Double outlet righ... ORPHA:163956
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification... ORPHA:93346
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Camptodactyly of toe ORPHA:251038
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Advanced ossificati... OMIM:224400
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Koolen-De Vries Syndrome
Prominent fingertip pads, Vertebral fusion, Prominent metopic ridge, Ventricular septal defect, B... OMIM:610443
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Brachydactyly, Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse p... OMIM:617425
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Ventricular septal defect, Abnorma... ORPHA:2092
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Ventricular septal defect, Sandal gap, Clinodactyly of the 5th finger, Camptodact... OMIM:617602
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Hepatomegaly, Nonimmune hydrops fetalis OMIM:266200
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Premature birth, Sandal gap, Abnormality of prenatal development or bi... OMIM:619229
Zellweger Syndrome
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Premature ... ORPHA:912
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... ORPHA:1772
Mirizzi Syndrome
Tachycardia ORPHA:521219
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa... OMIM:134780
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Broad hallux, Ventricular septal defect, Slender finger, Small hand, Tib... ORPHA:251028
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Patellar aplasia, Clinodactyly of the 5th fin... ORPHA:96167
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Split hand, Clubbing, Death in childhood, Tetralogy of Fallot OMIM:600460
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Polyhydramnios, Narrow greater sciatic notch, Short phalanx of finger, Br... ORPHA:508533
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Feingold Syndrome 1
Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Short th... OMIM:164280
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Polyhydramnios, Tibial bowing, Hypoplastic iliac wing, Atrial se... ORPHA:96334
Limb Body Wall Complex
Duplication of hand bones, Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving ... ORPHA:2369
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Deep palmar crease, Pulmonic ste... OMIM:607721
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatomegaly, Sho... OMIM:312870
Thanatophoric Dysplasia Type 2
Atrial septal defect, Encephalocele, Patent ductus arteriosus ORPHA:93274
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Talipes equinovarus, Atria... ORPHA:261236
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Polyhydramnios, Micromelia, Short metata... OMIM:600383
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... OMIM:146510
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Craniosynostosis, Valvula... OMIM:300707
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, ... OMIM:616145
Radio-Tartaglia Syndrome
Brachydactyly, Ventricular septal defect, Fetal distress, Tapered finger OMIM:619312
Thanatophoric Dysplasia
Atrial septal defect ORPHA:2655
Fanconi Anemia, Complementation Group F
Polyhydramnios, Placental abruption, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 fin... OMIM:603467
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:618109
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Tbck-Related Intellectual Disability Syndrome
Broad toe, Prominent metopic ridge, Ventricular septal defect, 2-3 toe syndactyly, Pulmonic steno... ORPHA:488632
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Stevenson-Carey Syndrome
Atrial septal defect, Joint contracture of the hand, Camptodactyly OMIM:611961
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Premature birth, Absent thumb, Hypoplastic ilia, C... OMIM:105650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Postaxial hand polydactyly... ORPHA:1655
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... OMIM:148820
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-s... OMIM:208500
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... OMIM:620099
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Myopathy With Extrapyramidal Signs
Splenomegaly, Hepatomegaly, Ventricular septal defect OMIM:615673
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom... OMIM:256040
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dehydration, Abnormal placenta morphology,... ORPHA:96191
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy,... OMIM:610505
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly, Vasculitis, Hydrops fetalis, Arthritis ORPHA:3261
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Marshall-Smith Syndrome
Hallux valgus, Prominent fingertip pads, Wormian bones, Ventricular septal defect, Bullet-shaped ... OMIM:602535
Craniofacioskeletal Syndrome
Ventricular septal defect, Small hand, Short foot, Clinodactyly of the 5th finger, Short palm, At... OMIM:300712
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Incr... ORPHA:453499
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Orofaciodigital Syndrome V
Ventricular septal defect, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:174300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Premature osteoarthritis, Flared metap... OMIM:215150
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Prominent interphalangeal joints, Short phalanx of the... OMIM:614609
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:615802
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Tapered finger, Ankle flexion co... ORPHA:464311
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Talipes equinovarus, 3-4 finger cutaneous syndactyly OMIM:612530
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Limb joint contracture, Patent foramen ovale, Limb hypertonia OMIM:620327
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Hydrops fetalis, Dehydration, Death in childhood OMIM:557000
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar cr... OMIM:214100
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Tapered finger ORPHA:3010
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Arachnodactyly, Polyhydramnios, Delayed closure of the anterior fontan... OMIM:300373
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... OMIM:615349
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal heart morphology, Melena, Hematochezia, Intestinal bleeding... ORPHA:79076
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... ORPHA:466650
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... OMIM:114300
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis OMIM:300867
Opsismodysplasia
Short metacarpal, Rhizomelia, Polyhydramnios, Edema, Squared iliac bones, Hypoplastic pubic bone,... OMIM:258480
Alazami Syndrome
Atrial septal defect ORPHA:319671
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Talipes equinovarus, Arrhythmia, Tetralogy of F... ORPHA:261494
Hereditary Elliptocytosis
Splenomegaly, Hydrops fetalis ORPHA:288
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Avascular necrosis... OMIM:222470
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phal... ORPHA:97360
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus OMIM:614846
Spondyloocular Syndrome
Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Lymphedema, Long fingers, Mitral valve... OMIM:605822
Renal-Hepatic-Pancreatic Dysplasia 1
Portal hypertension, Situs inversus totalis, Neonatal death, Atrial septal defect, Aortic valve s... OMIM:208540
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Congenital diaphragmatic hernia ORPHA:2260
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly OMIM:106260
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Coronary artery fistula, Neonatal death, Metopic synostosis, Atrial se... OMIM:620024
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Long fingers, Coronary artery fistula, Abnormal cardiac ... OMIM:614294
Al Kaissi Syndrome
Atrial septal defect, Torticollis OMIM:617694
Fg Syndrome Type 1
Atrial septal defect, Pulmonary arterial hypertension, Progressive flexion contractures, Mitral v... ORPHA:93932
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital pulmonary airway malformation, Oligohydramnios OMIM:611812
Chops Syndrome
Ventricular septal defect, Splenomegaly, Anomalous pulmonary venous return, Cervical C2/C3 verteb... OMIM:616368
Trichohepatoneurodevelopmental Syndrome
Decreased fetal movement, Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnio... OMIM:618268
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia OMIM:619699
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Jacobsen Syndrome
Death in infancy, Broad hallux phalanx, Finger syndactyly, Ventricular septal defect, Premature b... ORPHA:2308
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Sagittal craniosynostosis, Limit... ORPHA:221120
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... ORPHA:3474
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Knee flexion contra... ORPHA:3103
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hallux valgus, Toe syndactyly, Ventricular septal defect, Arachnodactyly, P... ORPHA:464306
Fryns Syndrome
Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Polyhydramn... OMIM:229850
Plague
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Campomelic Dysplasia
Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Patellar hypoplasia, Fem... OMIM:114290
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Postaxial hand polydactyly, Oligohydramnios, ... ORPHA:3380
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, 2-3 toe syndactyly, Large hands, Clinodac... OMIM:606232
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... ORPHA:261197
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... ORPHA:500095
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect, Hepa... OMIM:270400
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Sanda... OMIM:613458
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal... ORPHA:466791
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Genu valgum OMIM:617798
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Dysplastic tricuspid valve, ... ORPHA:1724
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Noonan Syndrome 1
Ventricular septal defect, Lymphedema, Clinodactyly, Synovitis, Chylothorax, Pulmonic stenosis, R... OMIM:163950
Degcags Syndrome
Tachycardia, Ventricular septal defect, Pulmonary arterial hypertension, Pulmonic stenosis, Atria... OMIM:619488
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Bartsocas-Papas Syndrome 1
Decreased fetal movement, Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absen... OMIM:263650
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Flexion contracture, Bicuspid aortic valve OMIM:619720
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... OMIM:304120
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic stenosis, Atrial se... OMIM:618223
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Premature birth, Polyhydramni... OMIM:218040
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger clinodactyly, Cli... ORPHA:508488
Bdv Syndrome
Atrial septal defect OMIM:619326
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Polydactyly, Atrial septal defect ORPHA:769
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... OMIM:271510
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Achilles tendon contracture, Congenital finger flexion contractu... ORPHA:363528
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology ORPHA:1292
De Barsy Syndrome
Decreased fetal movement, Congenital hip dislocation, Ventricular septal defect, Delayed closure ... ORPHA:2962
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Prominent metopic ridge, Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe,... OMIM:608670
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle OMIM:614886
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviation of the hand... OMIM:218600
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ventricular septal defect, Single transverse palmar crease, Long palm... OMIM:244450
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology... ORPHA:84064
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Complete atrioventricular c... OMIM:236680
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Buratti-Harel Syndrome
Atrial septal defect OMIM:619314
Oculoectodermal Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack OMIM:600268
Congenital Disorder Of Glycosylation, Type Iia
Slender long bone, Ventricular septal defect, Proximal placement of thumb, Coxa valga OMIM:212066
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Clinodactyly of the 5th finge... ORPHA:3047
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Broad hallux, A... ORPHA:353281
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy ORPHA:1790
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Polyhydramnios, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Ap... OMIM:617088
Shashi-Pena Syndrome
Atrial septal defect, Limb hypertonia OMIM:617190
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Palpebral edema, Ventricular septal defect, Toe syndactyly, Tapered fing... ORPHA:261337
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, 2-3 toe cutaneous syndactyly, Short foot, Clinodactyly of the 5th fing... OMIM:618454
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Metopic synostosis, Tetralogy of Fallot, Paten... OMIM:618748
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, ... OMIM:300166
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Large hands, L... OMIM:617107
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... ORPHA:53271
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Hajdu-Cheney Syndrome
Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mit... ORPHA:955
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia, Ankle clonus, Death in childhood OMIM:618397
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353277
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis OMIM:257300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Edema, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad metacarpa... OMIM:266920
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... ORPHA:2751
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... OMIM:619471
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Tetralogy of Fallot, Ventricular septal defect, Transposition of... ORPHA:1780
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure OMIM:181270
Beckwith-Wiedemann Syndrome
Hepatomegaly, Prominent metopic ridge, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Plac... OMIM:130650
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis OMIM:202650
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Short middle phalanx of finger, Clinodactyly of the 5th finger, Atrial... OMIM:301030
Donnai-Barrow Syndrome
Short sternum, Ventricular septal defect OMIM:222448
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites ORPHA:646
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Ventricular septal defect, Rhizomelia, Polyhydramnios, Proximal placement of t... ORPHA:818
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Congestive heart failure, Small hand,... ORPHA:444077
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Macroglossia, Camptodactyly ORPHA:397709
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Abnormal hemidiaphragm morphology ORPHA:2257
Cornelia De Lange Syndrome 1
Ventricular septal defect, Single transverse palmar crease, Micromelia, Proximal placement of thu... OMIM:122470
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Complete duplication of thum... OMIM:227645
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Ventricular septal defect, Mesomelia, Patent foramen ovale, Hip subluxation OMIM:613457
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Death in infancy, Ventricular septal defect ORPHA:1393
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Broad hallux, Ventricular septal defect, 1-2 toe syndactyly, Tapered finger, Partial anomalous pu... OMIM:301044
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Knee flexion contracture, Triangular shaped distal phalanges of t... OMIM:271665
Fucosidosis
Splenomegaly, Hepatomegaly, Coxa valga, Cardiomegaly OMIM:230000
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Arteriosclerosis, Severe Juvenile
Hypertension, Hip dysplasia, Short phalanx of finger, Myocardial infarction OMIM:208060
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Rhabdomyosarcoma, Muscular dystrophy, Subvalvular aortic stenosis, Atrial s... ORPHA:1052
Cerebrocostomandibular Syndrome
Short humerus, Congenital hip dislocation, Ventricular septal defect, Calcaneal epiphyseal stippl... OMIM:117650
Arboleda-Tham Syndrome
Brachydactyly, Ventricular septal defect, Sandal gap, Short hallux, Deviation of the hallux, Secu... OMIM:616268
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wris... OMIM:268300
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,... OMIM:619727
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitral valve pro... ORPHA:363700
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect OMIM:620194
Distal Triplication 15Q
Atrial septal defect, Flexion contracture, Camptodactyly, Abnormal heart morphology ORPHA:314588
Lateral Meningocele Syndrome
Wormian bones, Prominent metopic ridge, Ventricular septal defect ORPHA:2789
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Ventricular septal defect, Polyhydramnios, Patellar ... OMIM:606170
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Ventricular septal defect, 1-2 toe s... OMIM:107480
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology ORPHA:369837
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morpholo... ORPHA:268261
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Osteoglophonic Dysplasia
Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi... OMIM:166250
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Broad 2nd toe, Clinodactyly, Palmoplantar hyperkeratosis... OMIM:280000
7Q31 Microdeletion Syndrome
Atrial septal defect, Skeletal muscle atrophy, Torticollis ORPHA:251061
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Overlapping toe, Single transverse palmar crease, Hip dislocation, Cli... OMIM:613884
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... ORPHA:17
Abetalipoproteinemia
Talipes equinovarus, Hepatomegaly, Congestive heart failure, Cardiomegaly ORPHA:14
Vater/Vacterl Association
Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Hypoplasia of the radius, Prea... OMIM:192350
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Facial edema, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Pa... ORPHA:221008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly,... ORPHA:352665
Diets-Jongmans Syndrome
Breech presentation, Hip dysplasia, Ventricular septal defect, Polyhydramnios OMIM:618846
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Myopathy, Mitral regurgitation, Pulmonic stenosis... OMIM:612541
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Proximal muscle weakness in lower limbs, Atrial septal defect, Pulmonary ar... ORPHA:280633
Trichothiodystrophy
Joint dislocation, Ventricular septal defect, Craniosynostosis, Abnormality of prenatal developme... ORPHA:33364
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, Polyhydramnios, Taper... ORPHA:459070
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Single transverse palmar crease, Craniosynostosis, Long fingers, Atria... ORPHA:96121
Zaki Syndrome
Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619648
Lateral Meningocele Syndrome
Wormian bones, Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve OMIM:130720
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect OMIM:300472
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Clinodactyly of the 5th finger, Overlapping toe, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging OMIM:609625
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect OMIM:620183
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Heart murmur OMIM:618653
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Death in childhood OMIM:618278
Marden-Walker Syndrome
Arachnodactyly, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs inversus ... ORPHA:2461
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Prominent fingertip pads, Joint dislocation, Anomaly of lower limb diaphyses... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Prominent fingertip pads, Joint dislocation, Anomaly of lower limb diaphyses... ORPHA:363958
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Vertebral fusion, Scapular winging, Short metacarpal, Bowed humerus, Epiphysea... OMIM:272460
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... ORPHA:93271
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Brachydactyly OMIM:147791
Genitopatellar Syndrome
Atrial septal defect, Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture ORPHA:85201
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect OMIM:614749
Coffin-Siris Syndrome
Ventricular septal defect, Abnormal heart morphology, Short 5th finger, Atrial septal defect, Cli... ORPHA:1465
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect, Caesarian section OMIM:619575
Distal Deletion 10Q
Atrial septal defect, Facial diplegia, Scapular winging ORPHA:96148
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... ORPHA:567
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Long fingers, Intracranial hemor... ORPHA:79318
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Hand polydactyly, Arrhythmia, Tet... ORPHA:2162
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... OMIM:101800
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... ORPHA:1422
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral regurgitation, D... OMIM:619127
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Portal hypertension OMIM:620005
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... OMIM:601776
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Khan-Khan-Katsanis Syndrome
Joint contracture, Tricuspid regurgitation, Patent foramen ovale OMIM:618460
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Renovascular hyp... ORPHA:391487
Hepatoerythropoietic Porphyria
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Ventricular septal d... ORPHA:1071
Cornelia De Lange Syndrome
Toe syndactyly, Ventricular septal defect, Prenatal movement abnormality, Premature birth, Microm... ORPHA:199
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Facia... ORPHA:221016
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Joint contracture OMIM:618005
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Clinodactyly of... OMIM:309500
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, 5-minute APGAR score of 3, Hypoplastic ... ORPHA:141127
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Osteolytic defects of the distal phalanges of the hand, Short clavicles... OMIM:608612
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Breech presentation, Small han... OMIM:617140
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Pseudo-Torch Syndrome 1
Patent foramen ovale OMIM:251290
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Premature birth, Delayed closure of the anterior fontanelle, Short toe, Premature rupture of memb... OMIM:225410
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Absence of stomach bubble on fetal sonography, Clinoda... ORPHA:1199
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the hand OMIM:192430
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Polyda... ORPHA:672
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Hematemesis, Splenomegaly, Partial ... OMIM:301068
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension OMIM:300896
Peters-Plus Syndrome
Syndactyly, Short metacarpal, Ventricular septal defect, Single transverse palmar crease, Polyhyd... OMIM:261540
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Camptodactyly of finger OMIM:619951
Wolf-Hirschhorn Syndrome
Decreased fetal movement, Vertebral fusion, Ventricular septal defect, Single transverse palmar c... OMIM:194190
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Pulmonic stenos... OMIM:617137
Opitz Gbbb Syndrome
Enlarged ovaries, Prominent metopic ridge, Ventricular septal defect, Craniosynostosis, Abnormal ... ORPHA:2745
Diamond-Blackfan Anemia 10
Ventricular septal defect OMIM:613309
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho... ORPHA:536471
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Aicardi-Goutières Syndrome
Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Arthritis, Hypertrophic cardiomyopathy ORPHA:51
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Camptodactyly ORPHA:261323
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Penile Agenesis
Ventricular septal defect, Fetal pyelectasis, Bilateral talipes equinovarus, Atrial septal defect... ORPHA:49
Fontaine Progeroid Syndrome
Atrial septal defect, Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasi... OMIM:612289
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitatio... OMIM:615873
Charge Syndrome
Hypoplasia of the ulna, Overriding aorta, Ventricular septal defect, Down-sloping shoulders, Poly... OMIM:214800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Hip dysplasia, Clinodactyly of the 5th finger, Patent fora... OMIM:616975
Congenital Erythropoietic Porphyria
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Congenital pulmonary airway malformation, Polyhydramnios ORPHA:436252
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect ORPHA:2637
Beckwith-Wiedemann Syndrome
Hepatomegaly, Prominent metopic ridge, Premature birth, Polyhydramnios, Cardiomegaly, Large place... ORPHA:116
Luscan-Lumish Syndrome
Advanced ossification of carpal bones OMIM:616831
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly OMIM:600092
Phace Association
Ventricular septal defect OMIM:606519
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Turnpenny-Fry Syndrome
Aortic regurgitation, Torticollis, Facial hypotonia, Mitral valve prolapse, Tricuspid valve prola... OMIM:618371
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Facial palsy, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Right ... OMIM:620186
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx ORPHA:59315
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect OMIM:300968
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia OMIM:601162
Early Infantile Epileptic Encephalopathy
Short finger, Ventricular septal defect, Broad finger, Broad phalanx of the toes ORPHA:1934
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Flexion contracture, Generalized limb muscle atrophy OMIM:618891
Opitz Gbbb Syndrome
Ventricular septal defect OMIM:300000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Congenital diaphragmatic hernia OMIM:614080
Orofaciodigital Syndrome Type 14
Broad hallux, Ventricular septal defect, Deviation of the hallux, Postaxial hand polydactyly, Dup... ORPHA:434179
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Single transverse palmar crease, Portal hypertension, Si... OMIM:243800
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Morgagni diaphragmatic hernia, Death in ch... OMIM:613177
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Splenomegaly, Hepatomegaly, Ventricular septal defect, Premature birth OMIM:619418
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Flexion contracture ORPHA:398069
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:613355
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Sho... OMIM:118450
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Knee flexion contracture, Transpos... OMIM:614976
Ramos-Arroyo Syndrome
Atrial septal defect ORPHA:1051
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Ventricular septal defect, Tibial bowing OMIM:259770
Ctcf-Related Neurodevelopmental Disorder
Mitral regurgitation, Joint contracture of the 5th finger, Atrial septal defect, Pulmonary arteri... ORPHA:363611
Fanconi Anemia
Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Atrial septal defect, Hyper... ORPHA:84
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Death in infancy, Flexion contracture OMIM:609069
Coffin-Siris Syndrome 1
Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Sandal gap,... OMIM:135900
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... OMIM:601358
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
Viss Syndrome
Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Atrial septal defect, Patent f... OMIM:619472
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:881
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Hypertension, Neonatal death, Death in childhood, Atrial septal defect, Corneal... OMIM:308205
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Progressive flexion contractures ORPHA:522077
Orofaciodigital Syndrome Xiv
Broad hallux, Ventricular septal defect, Postaxial hand polydactyly, Preaxial polydactyly, Aplasi... OMIM:615948
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Nuchal cord, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... OMIM:619475
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Short thum... OMIM:619522
Gabriele-De Vries Syndrome
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale OMIM:617557
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Pulmo... ORPHA:438213
Williams-Beuren Syndrome
Hallux valgus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Down-slopin... OMIM:194050
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect OMIM:206900
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot ORPHA:2886
Tetrasomy 9P
Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Abnormal cardiac septum morphology, Abn... ORPHA:3310
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital hip dislocation, Single transverse palmar crease, Polyhyd... OMIM:601803
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Metatarsus adductus, Hip dysplasia, Osteopathia striata, Ventricular septal defect ORPHA:513456
Focal Dermal Hypoplasia
Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa... OMIM:305600
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Arthrogryposis multiplex congenita OMIM:619512
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Patent ductus arteriosus, Tetralogy of Fallot OMIM:619869
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect OMIM:213980
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal synostosis, Breech presentation, Uln... OMIM:201750
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Kabuki Syndrome 1
Joint dislocation, Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defec... OMIM:147920
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus ORPHA:2538
Wolf-Hirschhorn Syndrome
Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Congen... ORPHA:280
Mowat-Wilson Syndrome
Ventricular septal defect, Generalized muscle hypertrophy, Abnormal heart morphology, Pulmonic st... OMIM:235730
Coffin-Siris Syndrome 12
Tetralogy of Fallot, Patent foramen ovale, Facial palsy, Heart murmur OMIM:619325
Restrictive Dermopathy 1
Limb joint contracture, Flexion contracture, Stillbirth, Neonatal death, Atrial septal defect OMIM:275210
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Camptodactyly, Atrial sep... OMIM:609192
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Ventricular septal defect, Long fingers, Cutaneous syndactyly, Toe clinodactyly OMIM:620330
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, La... OMIM:619269
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Macroglossia OMIM:269150
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect ORPHA:2526
Poland Syndrome
Atrial septal defect, Aplasia of the pectoralis major muscle, Dextrocardia, Congenital diaphragma... ORPHA:2911
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy ORPHA:480880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Ischemic stroke, Transient ischemic attack, Abnormal heart morphology ORPHA:500150
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Transposition of th... ORPHA:1662
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Hepatomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Craniosynostosis, Bilatera... ORPHA:821
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale ORPHA:477993
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Bicuspid aortic valve, Ventricu... ORPHA:261552
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Camptodactyly, Atrial sep... OMIM:610168
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Patellar dislocation, Truncus arteriosus, Tetralogy of F... OMIM:188400
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia OMIM:136140
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Tetralogy of Fallot ORPHA:2044
Craniosynostosis And Dental Anomalies
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... OMIM:614188
Townes-Brocks Syndrome
Atrial septal defect, Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Te... ORPHA:857
Craniofacial Microsomia 1
Block vertebrae, Ventricular septal defect, Partial duplication of thumb phalanx, Genu valgum, Te... OMIM:164210

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 Tbx5

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 Tbx5.

No publications found that use IMPC mice or data for Tbx5.

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MGI Allele Allele Type Produced
Tbx5tm380149(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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