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Gene: Vcl MGI:98927

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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:
vinculin
Synonyms:
metavinculin

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 Vcl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Vcl by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... OMIM:224700
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy ORPHA:1177
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Ventriculomegaly, Plagiocephaly, Campt... ORPHA:272
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Displacement of the papi... ORPHA:1329
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... OMIM:310200
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve morp... ORPHA:1759
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Thin calvarium, Split fo... ORPHA:2437
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Cornelia De Lange Syndrome 2
Ventriculomegaly, Small hand, Clinodactyly, Hypertrophic cardiomyopathy, Postnatal growth retarda... OMIM:300590
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Alg3-Cdg
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Dandy-Walker malform... ORPHA:79321
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Brachyturricephaly, Ventricular septal defect, Brachycephaly, Hydrocephalus, Sh... OMIM:218350
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Gómez-López-Hernández Syndrome
Short stature, Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Ventriculomegaly, Plagiocephaly, Umbilical hernia, Abnormal heart morphology, P... ORPHA:500159
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Flat occiput, Lateral ventricle dilatation, Bicoronal synostosis, Br... OMIM:618736
Joubert Syndrome 15
Exencephaly OMIM:614464
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Lateral ventricle dilatation, Umbilical hernia, Intrauterine growth retardation, D... OMIM:617751
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Plagiocephaly, Skeletal muscle atrophy, Upper limb muscle weakness, Lo... ORPHA:1143
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul... OMIM:602668
Mosaic Trisomy 9
Ventriculomegaly, Micromelia, Finger clinodactyly, Camptodactyly of finger, Abnormal heart valve ... ORPHA:99776
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Right bundle branc... OMIM:616479
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Intrauterine gr... ORPHA:1908
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Hand polydactyly, Hydrocephalus, Dextrocardia, Foot polydac... ORPHA:220493
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Myelomeningocele, Situs inversus totalis, Ectopic anus, Hydrocephalus, Dextrocardi... OMIM:613686
Pentasomy X
Small hand, Plagiocephaly, Camptodactyly of finger, Radioulnar synostosis, Delayed puberty, Abnor... ORPHA:11
Craniosynostosis 6
Plagiocephaly, Lateral ventricle dilatation, Parietal foramina, Right unilambdoid synostosis, Bic... OMIM:616602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi... OMIM:615351
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Genu valgum, Ventricu... OMIM:201000
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Lateral ventricle dilatation, Ventricular septal defect, Atrial septal defect, Sho... OMIM:618330
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Houge-Janssens Syndrome 3
Ventriculomegaly, Plagiocephaly, Umbilical hernia, Muscular ventricular septal defect, Atrial sep... OMIM:618354
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Umbilical hernia, Turricephaly, Bowing of the long bones, Radioulnar synostosis, ... ORPHA:171839
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Ventriculomegaly, Tetralogy of Fallot, Postnatal growth retardatio... OMIM:179613
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... OMIM:600325
8Q12 Microduplication Syndrome
Abnormal cranial nerve morphology, Ventricular septal defect, Brachycephaly, Atrial septal defect... ORPHA:228399
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly, Calvarial skull defect, Facial palsy ORPHA:1114
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Plagiocephaly, Clinodactyly, Umbilical hernia, Abnormal heart m... ORPHA:369891
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Brachydactyly, Dextrocardia, High palate, Short stature, Anal atresia, P... ORPHA:2863
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def... OMIM:610198
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp... ORPHA:85443
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... OMIM:612582
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Intrauterine ... ORPHA:1327
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Mitral valve prolapse, Progressive flexion con... ORPHA:93932
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Small hand, Trigonocephaly, Scaphocephaly, Brachycephaly, Camptodactyly, S... ORPHA:459061
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Premature ventricular contraction, Heart block ORPHA:1964
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Atrioventricular canal defect, Postnatal growth retardation, Intrauterine growth re... OMIM:613792
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Frontal bossing, Congenital di... ORPHA:1488
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, High, narrow palate, Aortic valve stenosis, Bifid uvula, Coarse metaphyseal... ORPHA:2780
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Bundle branch block, First degree atrioventricular block, Abnormal cardiac sept... ORPHA:589821
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Kleefstra Syndrome Due To A Point Mutation
Ventriculomegaly, Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Brachycephaly, Shor... ORPHA:261652
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Short stature, Clinodactyly of ... OMIM:615834
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Encephalocele, Talipes equinovarus, Small thenar eminence, Anal atresia, High pa... OMIM:619148
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Ventriculomegaly, Velopharyngeal insufficiency, Abnormal hear... OMIM:182290
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Abnormal mitral valve morphol... ORPHA:1292
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Intrauterine growth retardation, Overlapping toe, Overlapping fingers, Vent... OMIM:618142
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy ORPHA:178377
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased n... OMIM:218000
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Aplasia/Hypoplasia of the abdo... ORPHA:1926
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia... OMIM:620294
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Median cleft palate, Complete atrioventricular canal defect, Encephal... OMIM:264480
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, Dolichocephaly, High pa... OMIM:615433
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Cranial asymmetry, Abnormal pulmonary valve morphology, Pulmonic stenosis, Optic nerve hypoplasia ORPHA:137634
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia ORPHA:1666
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Plagiocephaly, Bilateral talipes equinovarus ORPHA:544469
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth retardation, Bund... ORPHA:500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Absent radius, Short humerus, Neonatal death, Hand polydactyly, Tr... OMIM:314390
Hemimegalencephaly
Optic atrophy, Ventriculomegaly, Cranial asymmetry ORPHA:99802
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventriculomegaly, Broad thumb, Flat occiput, Intrauterine growth retardation, Overlapping toe, Ve... OMIM:617452
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventriculomegaly, Toe syndactyly, Broad thumb, Flat occiput, Intrauterine growth retardation, Ove... ORPHA:505237
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly, Ventriculomegaly OMIM:300699
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Plagiocephaly, Prominent fingertip pads, Genu valgum, Arachn... OMIM:619721
Limb Body Wall Complex
Cutaneous finger syndactyly, Encephalocele, Congenital diaphragmatic hernia, Ventricular septal d... ORPHA:2369
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy OMIM:610131
Distal Deletion 10Q
Lateral ventricle dilatation, Clinodactyly, Postnatal growth retardation, Atrial septal defect, H... ORPHA:96148
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Arachnodacty... OMIM:615539
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Ventriculomegaly, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fib... OMIM:616897
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Plagiocephaly, Clinodactyly, Unilambdoid synostosis, Brachycephaly, Hydrocephalus OMIM:618577
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Neonatal death, Aganglionic megacolon, Hydrocepha... ORPHA:85284
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Cranial asymme... OMIM:614886
Band Heterotopia
Ventriculomegaly, Plagiocephaly, Hydrocephalus, Lateral ventricle dilatation OMIM:600348
Lessel-Kreienkamp Syndrome
Plagiocephaly, Scaphocephaly, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, ... OMIM:619149
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocephalus, Ectopia cord... OMIM:313850
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Ventriculomegaly, Plagiocephaly, Intrauterine growth retardation, Distal arthrogry... OMIM:619833
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Brachydactyly, Hydroc... ORPHA:93262
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Ventriculomegaly OMIM:620200
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Ventriculomegaly, Plagiocephaly, Hypertrophic cardiomyopathy, Overlapping toe, Ove... OMIM:619383
German Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Brachycephaly, Abnormal cardiac septum morphology, ... ORPHA:2077
Proximal 16P11.2 Microdeletion Syndrome
Ventriculomegaly, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal aortic val... ORPHA:261197
Knobloch Syndrome
Occipital encephalocele, Calvarial skull defect, Hydrocephalus, Dextrocardia, Patent ductus arter... ORPHA:1571
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Broad thumb, Atrioventricular canal defect, Brachycephaly, Frontal ... OMIM:617364
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Brachycephaly, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:70472
Coffin-Siris Syndrome 6
High, narrow palate, Plagiocephaly, Clinodactyly, Atrial septal defect, Brachydactyly, Short stat... OMIM:617808
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... OMIM:614416
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Ventriculomegaly, Dysplastic pulmonary valve, Brachycephaly, Cleft palate OMIM:300958
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... ORPHA:93672
Craniodigital-Intellectual Disability Syndrome
Short stature, Spina bifida occulta, Brachycephaly, Finger syndactyly ORPHA:1514
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, T... ORPHA:1913
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Ventriculomegaly, Velopharyngeal insufficiency, Skull asymmetry, Tetralogy of Fallot, Intestinal ... OMIM:614701
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Arrhythmia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abnormalities ORPHA:480864
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Hip contracture, Mitral valve prolapse, Ventricular septal defect, Bicuspid... OMIM:121050
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Toe clinodactyly, Ventriculomegaly, Finger syndactyly, Sandal gap, Intraute... ORPHA:254346
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Crouzon Syndrome
Optic atrophy, Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Narr... ORPHA:207
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postnatal grow... OMIM:615419
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Short thumb, Patent forame... OMIM:618821
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Brachycephaly, Frontal bossing OMIM:264470
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Congenital contracture, Decreased muscle mass... OMIM:248700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Plagiocephaly, Short toe, Anteriorly placed anus, Abnormal heart ... OMIM:239300
Alagille Syndrome
Short distal phalanx of finger, Frontal bossing, Intrauterine growth retardation, Clinodactyly of... ORPHA:52
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Brachyturricephaly, Cardiomyopathy, Hyper... OMIM:300280
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormal auditory evoked potentials, Brachycephaly, Hydrocephalus, Short statur... OMIM:109120
ERI1-related disease
Velopharyngeal insufficiency, Dislocated radial head, Abnormal heart morphology, Tricuspid regurg... OMIM:608739
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Plagiocephaly, Abnormal heart morphology, Atrioventricular canal defect, Intrauterin... ORPHA:453499
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Alkuraya-Kucinskas Syndrome
Hand clenching, Ventriculomegaly, Plagiocephaly, Arthrogryposis multiplex congenita, Clinodactyly... OMIM:617822
Distal Deletion 3P
Ventriculomegaly, Umbilical hernia, Atrioventricular canal defect, Intrauterine growth retardatio... ORPHA:1620
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Rett Syndrome
Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave OMIM:312750
Even-Plus Syndrome
Severe short stature, Dysplasia of the femoral head, Patent foramen ovale, Brachycephaly, Atrial ... OMIM:616854
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Congenital Sialidosis Type 2
Abnormal heart morphology, Telangiectasia, Abnormal EKG ORPHA:93400
Blepharocheilodontic Syndrome 1
Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Ventriculomegaly, Plagiocephaly, Broad hallux, Anterior plagiocephaly, Aganglionic... OMIM:614749
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Clinodactyly, Intrauterine growth retardation, Prominent occiput, Ventricular sept... OMIM:617360
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Plagiocephaly, Broad hallux, Umbilical hernia, Elbow flexion contracture, Lo... OMIM:613776
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Anal atresia, Syndactyly, Plagiocephaly... OMIM:305450
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Brachycephaly, Hydrocephalus, Short stature, High palate, Patent ductus arteriosus OMIM:609757
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Intrauterine growth retardation, Calvarial skull defect, Encephalocele,... ORPHA:228390
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Mitral stenosis, S... OMIM:617660
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Brachycephaly, High palate, Growth delay ORPHA:2528
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Brachycephaly, Situs inversus totalis OMIM:615985
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Bicuspi... OMIM:245600
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Brachyce... ORPHA:3306
Non-Distal Duplication 10Q
Short stature, Brachycephaly, High palate, Frontal bossing ORPHA:1695
Pierpont Syndrome
Ventriculomegaly, Short toe, Prominent fingertip pads, Short finger, Brachycephaly ORPHA:487825
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Heart bl... ORPHA:175
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Short toe, Prominent fingertip pads, Short finger,... OMIM:602342
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Patellar hypoplasia, Preaxial foot polydactyly... ORPHA:1827
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Brachydactyly, Metacarpal synostosis ORPHA:35099
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Camptodactyly, Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation OMIM:619576
6Q25 Microdeletion Syndrome
Ventriculomegaly, Plagiocephaly, Camptodactyly of finger, Short stature, Clinodactyly of the 5th ... ORPHA:251056
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft palate OMIM:600776
Pontocerebellar Hypoplasia, Type 3
High, narrow palate, Optic atrophy, Brachycephaly, Short stature, Optic disc pallor, High palate OMIM:608027
Cornelia De Lange Syndrome 5
Ventriculomegaly, Small hand, Toe syndactyly, Postnatal growth retardation, Brachycephaly, Short ... OMIM:300882
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ventricular septal defec... OMIM:619995
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesophageal... OMIM:619227
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Clinodactyly, Patent foramen ovale, Talipes equinovarus, Brachycephaly, Transposit... OMIM:616789
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly, Plagiocephaly, Skeletal muscle atrophy, Brachycephaly, High palate, Cleft palate OMIM:618603
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Microglossia, Skeletal muscle atrophy, Ventriculomegaly, Plagiocep... OMIM:254940
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Plagiocephaly, Skeletal muscle atrophy, Talipes equinovarus, Joint contracture, Na... OMIM:617481
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Femoral bowing, Humeroradial synostosis, U... OMIM:207410
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Shortened PR interval, Cardiomegaly, Subar... OMIM:232300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Lateral ventricle dilatation, Abnormal heart morphology, Patent foramen ovale, Con... ORPHA:457279
Houge-Janssens Syndrome 2
Ventriculomegaly, Plagiocephaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly... OMIM:616362
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Broad proximal phalanges of the hand, Brachyturricephaly, Ethmoidal encephal... OMIM:607597
Martsolf Syndrome 1
Ventriculomegaly, Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slende... OMIM:212720
Apert Syndrome
Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cutaneou... OMIM:101200
Al Kaissi Syndrome
High, narrow palate, Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth ... OMIM:617694
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Plagiocephaly, Intestinal malrotation, Ventricular septal defect, Atrial septal de... ORPHA:457193
Marden-Walker Syndrome
Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, ... ORPHA:2461
Beck-Fahrner Syndrome
Ventriculomegaly, Ventricular septal defect, Cardiomegaly, Brachycephaly, Facial hypotonia, High ... OMIM:618798
Chromosome 2Q37 Deletion Syndrome
Short toe, Type E brachydactyly, Arrhythmia, Brachycephaly, Subvalvular aortic stenosis, Short st... OMIM:600430
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Perineal fistula, Aphalangy of ... OMIM:218600
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Bacterial endo... ORPHA:97214
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Optic atrophy, Small hand, Plagiocephaly, Prominent occiput, Dolichocephaly, Brachycephaly, Clino... OMIM:618672
Kury-Isidor Syndrome
Finger syndactyly, Frontal bossing, Ventricular septal defect, Talipes equinovarus, Brachycephaly... OMIM:619762
Wieacker-Wolff Syndrome, Female-Restricted
Ventriculomegaly, Radial deviation of the hand, Rocker bottom foot, Hip contracture, Weakness of ... OMIM:301041
Cerebrooculonasal Syndrome
Narrow palate, Ventriculomegaly, Proboscis, Postnatal growth retardation, Encephalocele, Postaxia... OMIM:605627
Cutis Laxa, Autosomal Recessive, Type Iiia
Distal amyotrophy, Umbilical hernia, Intrauterine growth retardation, Talipes equinovarus, Brachy... OMIM:219150
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Ventriculomegaly, Tetralogy of Fallot, Conotruncal d... ORPHA:96147
Joubert Syndrome 1
Macroglossia, Enlarged fossa interpeduncularis, Postaxial foot polydactyly, Clinodactyly, Optic d... OMIM:213300
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ... OMIM:602849
Trisomy 20P
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Preaxial hand polyda... ORPHA:261318
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG ORPHA:230
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal ... ORPHA:371428
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Plagiocephaly, Atrioventricular canal defect, Spina bifida, Torticollis, Unilateral ... OMIM:619480
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retardation, Embryonal rhabdo... OMIM:257300
Craniofrontonasal Dysplasia
Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Frontal bossing, Congenita... ORPHA:1520
3P25.3 Microdeletion Syndrome
High, narrow palate, Broad thumb, Skeletal muscle atrophy, Broad hallux, Proximal placement of th... ORPHA:435638
Lujan-Fryns Syndrome
Camptodactyly of finger, Arachnodactyly, Brachycephaly, Brachydactyly, Atrial septal defect, High... ORPHA:776
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Brachycephaly, Ulnar deviation of the... OMIM:263210
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Turricephaly, Brachycephaly, Brac... ORPHA:2145
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Brachycephaly, Short stature, Spina bifida occulta, Cleft palate OMIM:268850
Marbach-Rustad Progeroid Syndrome
Ventricular septal hypertrophy, Right bundle branch block, Pulmonary insufficiency OMIM:619322
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal hemidiaphragm morphology, Patellar hypoplasia, Intrauteri... ORPHA:2257
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Ventriculomegaly, Toe syndactyly, Broad thumb, Plagiocephaly, Bicuspid aortic valve, Atrial septa... OMIM:619720
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Potocki-Shaffer Syndrome
Parietal foramina, Turricephaly, Brachycephaly, 2-5 finger cutaneous syndactyly, Brachydactyly OMIM:601224
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly, Peripheral axonal neuropathy, Facial hypotonia, Short foot, Short palm OMIM:614563
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Optic disc coloboma, Frontal bossing, Thin calvarium, Scaphoc... OMIM:234100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Intrauterine growth retardation, Hip contracture, Brachycephaly, Facial hypotonia,... OMIM:616801
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Carpal synostosis, Brachycephaly, H... ORPHA:53271
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morpholog... ORPHA:404440
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Anteriorly placed anus, Fro... ORPHA:1225
Alobar Holoprosencephaly
Bifid uvula, Proboscis, Abnormal heart morphology, Abnormality of the autonomic nervous system, C... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Proboscis, Abnormal heart morphology, Abnormality of the autonomic nervous system, C... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Proboscis, Abnormal heart morphology, Abnormality of the autonomic nervous system, C... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Proboscis, Abnormal heart morphology, Abnormality of the autonomic nervous system, C... ORPHA:220386
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, High palate, Frontal bossing OMIM:618929
Potocki-Shaffer Syndrome
Hypertension, Brachycephaly, Delayed puberty, Parietal foramina ORPHA:52022
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the musculature, Ulnar deviation of finger, Plagiocephaly, Cam... ORPHA:1101
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Malan Overgrowth Syndrome
Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Scaphocephaly, Optic disc pallor, ... ORPHA:420179
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput, Bradycardia ORPHA:2898
Constricting Bands, Congenital
Encephalocele, Talipes equinovarus, Hand polydactyly, Ectopia cordis, Cleft palate, Syndactyly OMIM:217100
Down Syndrome
Narrow palate, Secundum atrial septal defect, Sandal gap, Celiac disease, Umbilical hernia, Tetra... ORPHA:870
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe... OMIM:608328
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventri... OMIM:614294
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Congenital diaphragmatic hernia, Turricephaly, Brachycephaly, Do... OMIM:618774
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Brachycephaly, Hypomimic face ORPHA:320385
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... OMIM:615994
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Plagiocephaly, Intrauterine growth retardation, Congenital diaphra... ORPHA:363528
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Joint contracture of the hand, Ventriculomegaly, Postnatal growth retardatio... OMIM:612513
Summitt Syndrome
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Bra... ORPHA:3210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Plagiocephaly, Flat occiput, Lateral ventricle dilatation, Congenital fibrosis of ext... ORPHA:300570
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Brachycephaly, Secundum atrial septal defect, Frontal bossing OMIM:608688
Frontofacionasal Dysplasia
Short stature, Brachycephaly, Encephalocele, Cleft palate ORPHA:1791
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly, Hypomimic face OMIM:615031
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Arachnodactyly, Talipes equinovarus, Brachycephaly, Broad hallux p... ORPHA:251019
Crouzon Syndrome
Lambdoidal craniosynostosis, Optic atrophy, Coronal craniosynostosis, Brachycephaly, Sagittal cra... OMIM:123500
Apert Syndrome
Bifid uvula, Optic atrophy, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Broad thumb, Mic... ORPHA:87
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Joint contracture of the hand, Brachyturricephaly, Umbilical hernia, Dislocated ra... OMIM:182212
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Plagiocephaly, Secundum atrial septal defect, Arachnodactyly, Brachycephaly, Tr... OMIM:619910
Peters Plus Syndrome
Toe syndactyly, Postnatal growth retardation, Anal atresia, Short foot, Patent ductus arteriosus,... ORPHA:709
Carpenter Syndrome 2
Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defect, Dextrocardia... OMIM:614976
Johanson-Blizzard Syndrome
Anteriorly placed anus, Intrauterine growth retardation, Abnormal cardiac septum morphology, Dext... ORPHA:2315
Clark-Baraitser Syndrome
Sandal gap, Clinodactyly, Brachycephaly, Dolichocephaly, High palate OMIM:617752
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Hypertension, Left atrial enlargement, Pulmonary arteria... OMIM:614008
Neurooculorenal Syndrome
Ventriculomegaly, Short 1st metacarpal, Anteriorly placed anus, Intestinal malrotation, Postnatal... OMIM:620305
Noonan Syndrome 13
Plagiocephaly, Clinodactyly, Overlapping toe, Mitral regurgitation, Mitral valve prolapse, Atrial... OMIM:619087
Catel-Manzke Syndrome
Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu valgum, Ventricular septal ... OMIM:616145
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Aymé-Gripp Syndrome
Ventriculomegaly, Plagiocephaly, Postnatal growth retardation, Congenital diaphragmatic hernia, R... ORPHA:1272
Monosomy 18P
Brachycephaly, Brachydactyly, Short stature, Holoprosencephaly, Hypertension, Cleft palate ORPHA:1598
De Barsy Syndrome
Decreased muscle mass, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retard... ORPHA:2962
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Plagiocephaly, Growth delay OMIM:308350
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia, Diastasis recti, Facial hypotonia, High palate OMIM:616579
Pseudodiastrophic Dysplasia
Severe short stature, Rhizomelia, Talipes equinovarus, Phalangeal dislocation, Brachycephaly, Cam... OMIM:264180
Scimitar Syndrome
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... ORPHA:185
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ventriculomegaly, Type 2 muscle fiber predominance, Skeletal muscle atrophy, Plagiocephaly, Hyper... OMIM:615471
Warburg Micro Syndrome 3
Optic atrophy, Ventriculomegaly, Decreased muscle mass, Postnatal growth retardation, Brachycepha... OMIM:614222
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Trigonocephaly, Brachycephaly... ORPHA:1790
Chromosome 15Q11.2 Deletion Syndrome
Slender finger, Plagiocephaly, Clinodactyly, Elbow contracture, Abnormal heart morphology, Short ... OMIM:615656
White-Sutton Syndrome
Bifid uvula, Broad thumb, Intrauterine growth retardation, Facial hypotonia, Congenital diaphragm... OMIM:616364
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly, Plagiocephaly ORPHA:521390
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventriculomegaly, Congenital diaphragmatic hernia, Ventricular septal defe... ORPHA:96121
Frontonasal Dysplasia 2
Parietal foramina, Intrauterine growth retardation, Calvarial skull defect, Encephalocele, Anteri... OMIM:613451
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Ventricul... OMIM:620073
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Plagiocephaly, Frontal bossing, Postnatal growth retardation, Dysplasia of the femoral head, Peri... ORPHA:536467
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Brachycephaly, Atrial septal defect, Pericardial effusion, Frontal bossing OMIM:608776
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Plagiocephaly, Frontal bossing, Elbow flexion contracture, Intrauterine growth retard... ORPHA:371364
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Disproportionate short-limb short stature, Calvarial hyperostosis, Long hallux, In... OMIM:101800
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Intestina... OMIM:616749
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... OMIM:619657
Distal Duplication 5Q
Absent thumb, Ventricular septal defect, Brachydactyly, Dextrocardia, Hypoplasia of the radius, S... ORPHA:96097
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Abnormal thumb morphology, Brachycephaly, Abnormal metacarpal morphology, B... ORPHA:2511
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx... OMIM:620662
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Optic atrophy, Ventriculomegaly, Toe clinodactyly, Sandal gap, Camptodactyl... ORPHA:261349
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Small hypothenar eminence, Contractures of the large joints, Abnormal heart ... ORPHA:96092
Hunter-Macdonald Syndrome
Aortic regurgitation, Joint contracture of the hand, Umbilical hernia, Mitral regurgitation, Mitr... OMIM:611962
7Q31 Microdeletion Syndrome
Plagiocephaly, Skeletal muscle atrophy, Clinodactyly of the 2nd finger, Prominent fingertip pads,... ORPHA:251061
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Brachycephaly, Communicati... OMIM:618188
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Small hand, Plagiocephaly, Brachycephaly, Hydrocephalu... ORPHA:500055
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Small hand, Toe syndactyly, Plagiocephaly, Frontal bossing, Ventricular septal ... OMIM:610759
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Plagiocephaly, Dislocated radial head, Frontal bossing, Clinodactyly of the 5th fi... OMIM:619512
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Abnorm... ORPHA:2095
Cataract-Intellectual Disability-Hypogonadism Syndrome
Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology of finger, Brachyc... ORPHA:1387
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Secundum atrial septal defect, Rhizomelic arm shortening, Short lower li... ORPHA:96190
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Brachycephaly, Lateral ventricle dilatation OMIM:619972
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Frontal bossing, Median cleft palate, Bila... OMIM:610828
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... ORPHA:93258
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Bifid uvula, Small hand, Plagiocephaly, Clinodactyly, Sandal gap, Short stature, Short foot, Clef... OMIM:618089
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Scapular winging, Prol... OMIM:170390
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Left ventricular ... ORPHA:308552
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Ventriculomegaly, Small hand, Postaxial polydactyly, Brachycephaly, Atrial septal de... OMIM:300968
Pde4D Haploinsufficiency Syndrome
Hypotension, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of finger, Pos... ORPHA:439822
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... ORPHA:90068
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Ventriculomegaly, Umbilical hernia, Intestinal malrotation, Tricuspid regur... OMIM:601776
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Optic nerve dysplasia, Brac... OMIM:617296
Laurence-Moon Syndrome
Finger syndactyly, Brachycephaly, Hand polydactyly, Brachydactyly, Short stature ORPHA:2377
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Macroglossia, Cranial hyperostosis, Umbilical hernia, Genu valgum, Mitral r... ORPHA:309282
Loeys-Dietz Syndrome 5
Decreased muscle mass, Cleft soft palate, Mitral regurgitation, Ventricular septal defect, Arachn... OMIM:615582
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger OMIM:618725
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Kleefstra Syndrome 2
Bifid uvula, Plagiocephaly, Growth delay OMIM:617768
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Brachycephaly, Tapered finger ORPHA:352530
Fontaine Progeroid Syndrome
Protruding tongue, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Patent ductus art... OMIM:612289
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Brachycephaly, Brachydactyly, Short stature, Clino... ORPHA:2163
Kleefstra Syndrome
Ventriculomegaly, Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythm... ORPHA:261494
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Talipes equinovarus, Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, Sh... OMIM:277380
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Plagiocephaly, Turricephaly, Aganglionic megacolon, Intraventricular hemorrhage... OMIM:613603
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly, Intrauterine growth retardation OMIM:620688
Ring Chromosome 7 Syndrome
Short 5th finger, Bifid uvula, Ventriculomegaly, Small hand, Slender finger, Plagiocephaly, 3-4 t... ORPHA:1449
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Ventricular septal defect, Contract... OMIM:300166
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Rocker bottom foot, Myelomenin... ORPHA:63259
Tetrasomy 9P
Bifid uvula, Small hand, Umbilical hernia, Intrauterine growth retardation, Clinodactyly of the 5... ORPHA:3310
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Au-Kline Syndrome
Bifid uvula, Ventriculomegaly, Plagiocephaly, Overlapping toe, Postaxial polydactyly, Dolichoceph... OMIM:616580
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Congenital diaphrag... ORPHA:2911
Stevenson-Carey Syndrome
Camptodactyly, Brachycephaly, Joint contracture of the hand, Atrial septal defect OMIM:611961
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Plagiocephaly OMIM:618731
Kaufman Oculocerebrofacial Syndrome
Ventriculomegaly, Intestinal malrotation, Clinodactyly of the 5th finger, Ventricular septal defe... OMIM:244450
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Plagiocephaly, Talipes equinovarus, Clinodactyly of the 5th finge... OMIM:619293
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Umbilical hernia, Arterial rupture, Antenatal intra... ORPHA:536545
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Neonatal short-limb short stature, Synostosis of carpal bones, Mi... ORPHA:289
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Lower limb muscle weakness, Palpitations, Rhabdomyolysis, S... ORPHA:79102
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Syncope, ... ORPHA:358
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Skeletal muscle atrophy, Brachycephaly, Short stature, High palate OMIM:618862
Gapo Syndrome
High, narrow palate, Optic atrophy, Ventriculomegaly, Plagiocephaly, Umbilical hernia, Frontal bo... OMIM:230740