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Gene: Isyna1 MGI:1919030

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Gene Summary

Name:
myo-inositol 1-phosphate synthase A1
Synonyms:
1300017C10Rik,  myo-inositol 1-phosphate synthase A1,  inositol-3-phosphate synthase 1

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
syndactyly Isyna1em1(IMPC)Bay HOM E15.5 0.00
pale yolk sac Isyna1em1(IMPC)Bay HOM E9.5 0.00
abnormal limb morphology Isyna1em1(IMPC)Bay HOM E15.5 0.00
abnormal heart looping Isyna1em1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube closure Isyna1em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Isyna1em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Isyna1em1(IMPC)Bay HOM E9.5 0.00
increased heart rate Isyna1em1(IMPC)Bay HET Early adult 7.37×10-05
prenatal lethality Isyna1em1(IMPC)Bay HOM   E18.5 0.00
abnormal pharyngeal arch morphology Isyna1em1(IMPC)Bay HOM E9.5 0.00
abnormal somite shape Isyna1em1(IMPC)Bay HOM E9.5 0.00
abnormal tail bud morphology Isyna1em1(IMPC)Bay HOM E9.5 0.00
abnormal visceral yolk sac morphology Isyna1em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, incomplete penetrance Isyna1em1(IMPC)Bay HOM   Early adult 0.00
abnormal tail morphology Isyna1em1(IMPC)Bay HOM E15.5 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

VIP of right fundus

24 Images

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Eye Morphology

VIP of left eye

24 Images

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Eye Morphology

VIP of left fundus

24 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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Eye Morphology

VIP of right eye

24 Images

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Human diseases caused by Isyna1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Isyna1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
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
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
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
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
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
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Abnormal heart morphology, Abnormality of the neck, Abnormal c... ORPHA:294975
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Variegate Porphyria
Tachycardia OMIM:176200
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly, Hydrocephalus OMIM:615938
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Clinodactyly, Hip dislocation, Short 5th f... OMIM:615583
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... ORPHA:93320
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty... ORPHA:65759
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Tapered finger, Camptodactyly ORPHA:435938
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger OMIM:609166
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow ORPHA:3268
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck ORPHA:1131
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... OMIM:603546
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous s... OMIM:236500
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... ORPHA:50815
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... ORPHA:261330
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Hitchhiker thumb, Dextrocardia, Spina bifida, Single transverse palma... ORPHA:2437
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Umbilical he... OMIM:600325
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ... ORPHA:166024
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... ORPHA:88630
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Spina bifida occulta, Clinodactyly of the 5th finger ORPHA:2475
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Patent ductus arteriosus, Hydrocephalus, Clinodactyly ORPHA:251046
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Ring Chromosome 21 Syndrome
Syndactyly, Narrow palm, Small hand, Abnormal heart morphology, Holoprosencephaly, Clinodactyly ORPHA:1445
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... ORPHA:2839
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Monosomy 5P
Finger syndactyly, Small hand, Short neck ORPHA:281
Grange Syndrome
Syndactyly, Patent ductus arteriosus, Ventricular septal defect, Short palm ORPHA:79094
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Summitt Syndrome
Syndactyly OMIM:272350
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... OMIM:173800
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Low posterio... OMIM:220210
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Ventricular septal defect, Polydactyly OMIM:602501
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Moebius Syndrome
Syndactyly, Brachydactyly, Short neck, Split hand, Abnormal pelvic girdle bone morphology, Talipe... OMIM:157900
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Periventricular Nodular Heterotopia 1
Syndactyly, Bicuspid aortic valve, Patent ductus arteriosus, Short finger, Clinodactyly OMIM:300049
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... ORPHA:1517
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Abnormality of the hand, Short neck, Abnormal heart morpho... ORPHA:369891
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered fi... ORPHA:261337
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly ORPHA:1406
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Tularemia
Tachycardia ORPHA:3392
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... ORPHA:915
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... OMIM:609638
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... ORPHA:352665
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Congenital hip dislocation OMIM:113650
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Short ne... ORPHA:508488
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb ORPHA:1825
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Single transverse palmar crease, Branchial anomaly, Short palm, Prominent fingertip pads, Brachyd... ORPHA:466950
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent ... OMIM:616028
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Alg3-Cdg
Neural tube defect, Abnormal limb bone morphology, Metaphyseal chondrodysplasia, Cardiomyopathy ORPHA:79321
Craniofrontonasal Dysplasia
Thickened nuchal skin fold, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of... ORPHA:1520
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Hypomelanosis Of Ito
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger OMIM:300337
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... OMIM:600987
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... OMIM:272440
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Long fingers, Paten... OMIM:618316
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma... ORPHA:3447
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... ORPHA:974
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Triphalangeal thumb, Shor... ORPHA:2994
Bor Syndrome
Branchial cyst ORPHA:107
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Triploidy
Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Ho... ORPHA:3376
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Ventricular septal defect, Radi... OMIM:607323
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Brachydactyly OMIM:616589
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodactyly of the 5th ... ORPHA:397590
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... ORPHA:2256
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... OMIM:619451
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Meckel Syndrome 14
Syndactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydactyly, Short neck,... OMIM:619879
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... ORPHA:423
Mosaic Trisomy 16
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Large placenta, Patent du... ORPHA:1708
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Cubitus valgus, Patent ductus arteriosus, Hydrocephalus, ... OMIM:104350
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Delayed eruption of teeth, Overlapping toe, Single transverse palmar crease, Taper... OMIM:619148
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... ORPHA:1515
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
3C Syndrome
Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Hydro... ORPHA:7
Kbg Syndrome
Single transverse palmar crease, Short neck, Congenital malformation of the left heart, Cutaneous... ORPHA:2332
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Short neck, Meningocele, Anomalous pulmonary venous r... ORPHA:2311
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... OMIM:614921
Alkuraya-Kucinskas Syndrome
Overlapping toe, Pericardial effusion, Hydrocephalus, Cutaneous syndactyly, Talipes equinovarus, ... OMIM:617822
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... OMIM:212780
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... OMIM:613684
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Sh... OMIM:619762
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand OMIM:603543
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Pericardial lymphangiectasia, Camptodactyly OMIM:616006
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Webbed neck, Brachydactyly ORPHA:2145
Mohr Syndrome
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... OMIM:252100
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Small hand, Webbed neck, Short palm, Clinodactyly of the 5th fi... ORPHA:1786
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short neck, Small hand, Short... ORPHA:1001
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly OMIM:619092
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Laurence-Moon Syndrome
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases ORPHA:2377
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short neck, Symphalangism affecting the phalanges of the hand, ... ORPHA:710
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Ventricular septal defect, Broad hallux, Spina bifida, ... ORPHA:2369
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short neck, Small hand, Spina bifida occulta, Short 4th metacarpal ORPHA:1787
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Redundant neck skin, Proximal placement of thumb, Short neck, Patent ductus arteriosu... OMIM:217980
Acrofrontofacionasal Dysostosis 2
Thickened nuchal skin fold, Syndactyly, Redundant neck skin, Broad hallux, Hand polydactyly, Broa... OMIM:239710
Constricting Bands, Congenital
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus, Ectopia cordis OMIM:217100
17Q12 Microduplication Syndrome
Atrial septal defect, Finger syndactyly, Toe syndactyly ORPHA:261272
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... OMIM:615777
Neu-Laxova Syndrome 1
Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger sy... OMIM:256520
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Opitz-Kaveggia Syndrome
Syndactyly, Broad hallux, Single transverse palmar crease, Short neck, Hydrocephalus, Split hand,... OMIM:305450
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Ventricular septal defect, Abnormal morp... ORPHA:251014
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... OMIM:601707
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mitral stenosis, Cam... ORPHA:2008
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Broad hallux, Single transverse palmar crease, Atrial septal defect,... OMIM:620186
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencepha... OMIM:614701
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Abnormal palmar dermatoglyphics, Sp... ORPHA:2092
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Acrootoocular Syndrome
Delayed eruption of teeth, Small hypothenar eminence, Short metacarpal, Sandal gap, Decreased pal... ORPHA:2980
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy OMIM:618321
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
X Small Rings
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Short neck, Tapered finger, 2-3... ORPHA:96201
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Atrial septa... ORPHA:2911
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... ORPHA:1788
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly OMIM:601163
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Clinodactyly of the 5th finger OMIM:619736
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Short neck,... OMIM:305400
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Endocrine-Cerebroosteodysplasia
Natal tooth, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Single transverse palm... OMIM:612651
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck OMIM:616038
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93259
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Apert Syndrome
Delayed eruption of teeth, Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal de... OMIM:101200
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... OMIM:615503
Pallister-Hall Syndrome
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, M... OMIM:146510
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... ORPHA:93932
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Autosomal Recessive Robinow Syndrome
Short neck, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal de... ORPHA:1507
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... ORPHA:3429
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Short neck, Deep palm... ORPHA:254346
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... ORPHA:2710
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Graft Versus Host Disease
Tachycardia ORPHA:39812
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop... ORPHA:887
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... ORPHA:505248
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Witteveen-Kolk Syndrome
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... OMIM:613406
Joubert Syndrome 33
Syndactyly OMIM:617767
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... ORPHA:3255
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Patent ductus arteriosus, Small hand OMIM:616489
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Syndactyly OMIM:614520
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Sandal gap, Br... OMIM:614800
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, Abnormal 5th finger morphology, Symphalangism of the t... ORPHA:1439
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Hypoplastic right heart, Ventricular septal defect, Short neck, Patent ductus arterio... OMIM:616894
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Hamamy Syndrome
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Complete atrioventricular canal def... OMIM:611174
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Bohring-Opitz Syndrome
Syndactyly, Ventricular septal defect, Overlapping toe, Ulnar deviation of the wrist, Tapered fin... OMIM:605039
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Abnormal pulmonary valve morphology, Duplication of thumb phal... OMIM:200990
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Bowing of the long bones, Syndactyly, Camptodactyly of fing... OMIM:249000
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Abnormal he... ORPHA:2754
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ... OMIM:180860
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:60040
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Postax... ORPHA:2473
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Preaxial hand polydactyly, ... ORPHA:261318
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe cli... ORPHA:217346
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Single transverse palmar crease, Short neck, Metatarsus adductus, S... OMIM:123450
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of f... ORPHA:2215
Robinow Syndrome
Syndactyly, Brachydactyly, Ventricular septal defect, Persistence of primary teeth, Bifid distal ... ORPHA:97360
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Lo... ORPHA:2990
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Short neck, Patellar apla... OMIM:265000
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Short thumb, Preaxial h... OMIM:113620
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... OMIM:603671
Mirizzi Syndrome
Tachycardia ORPHA:521219
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly OMIM:618087
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... ORPHA:63259
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology ORPHA:3224
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Low posterior hairline, Abnormal hip bone morphology,... ORPHA:1323
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93260
Orofaciodigital Syndrome I
Syndactyly, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Short 2nd toe, Polydactyl... OMIM:311200
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Ventricular septal defect, Sandal gap, Tapered finger, Narrow ... ORPHA:193
Fanconi Anemia
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial septal def... ORPHA:84
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Low posterior hairline ORPHA:1252
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... ORPHA:3103
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Ventricular septal defect, Single transverse palmar crease, Overlapping toe, B... ORPHA:464738
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Toe clinodact... ORPHA:2308
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Split hand, Hypoplas... ORPHA:958
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... OMIM:107480
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Post... ORPHA:2751
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... OMIM:272950
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o... ORPHA:783
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm ORPHA:73246
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Prominent fingerti... OMIM:180849
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly, Hydrocephalus ORPHA:2169
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Finger clinodactyly, Coronary artery stenosis, Brachydactyly OMIM:602531
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... ORPHA:1234
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... ORPHA:1005
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Partial duplication... OMIM:164210
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius ORPHA:246
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck ORPHA:178303
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... OMIM:151050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Rhombencephalosynapsis
Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala... ORPHA:59315
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Finger syndactyly, Ventricular septal defect, Patent ductus arteriosus, Sho... ORPHA:1519
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... OMIM:615789
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Cerebrofacioarticular Syndrome
Syndactyly, Abnormal heart morphology, Talipes equinovarus, Pulmonic stenosis, Camptodactyly, Cau... ORPHA:314679
Kbg Syndrome
Syndactyly, Single transverse palmar crease, Short neck, Webbed neck, Low posterior hairline, Cut... OMIM:148050
Ogden Syndrome
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... OMIM:300855
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Camptod... ORPHA:373
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Syndact... OMIM:268300
Loeys-Dietz Syndrome 2
Syndactyly, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Pa... OMIM:610168
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ... OMIM:263650
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Holoprosencephaly, Atrial septal defect, Advanced erupti... ORPHA:818
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... ORPHA:503
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... ORPHA:87
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morpholo... ORPHA:568
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... ORPHA:280365
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, ... ORPHA:464
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Abnormal heart morphology, Clinodactyly of the 5th ... ORPHA:96182
Prader-Willi Syndrome
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... OMIM:176270
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... ORPHA:2886
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly, Short neck ORPHA:110
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ... ORPHA:1512
Sclerosteosis 1
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... OMIM:269500
Degcags Syndrome
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis OMIM:619488
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Overlapping fingers, Overlapping toe, Short neck, Hypoplastic pubic bo... ORPHA:798
Peters-Plus Syndrome
Single transverse palmar crease, Limited elbow movement, Short neck, Proximal placement of thumb,... OMIM:261540
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Short neck, Camptodactyly, Absent palmar crease OMIM:614230
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... ORPHA:794
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Clinodactyly of the 5th finger, Syndactyly, Broad palm OMIM:618505
Cranioectodermal Dysplasia 2
Syndactyly, Left ventricular hypertrophy, Rhizomelia, Short neck, Patent ductus arteriosus, Posta... OMIM:613610
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... ORPHA:989
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Long neck, Broad palm, Short foot, Campt... OMIM:227330
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... ORPHA:254892
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Camptodactyly of finger, Micromelia, Short neck, Elbow dislocation, Coxa valga... ORPHA:3107
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb ORPHA:139471
Fontaine Progeroid Syndrome
Atrial septal defect, Syndactyly, Bicuspid aortic valve, Patent ductus arteriosus, Hydrocephalus,... OMIM:612289
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... OMIM:263750
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly ORPHA:66629
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Short neck, Abnormal metacarpal morphology, Absent pa... ORPHA:284160
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short neck, Holoprosencephaly, Webbed neck, C... ORPHA:1587
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Talipes equi... OMIM:620029
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Ventricular septal defect, 2-3 toe syndactyly, Aortopulmonary window, Talipes ... OMIM:620025
Fraser Syndrome 3
Short toe, Stillbirth, Hydrocephalus, Cutaneous syndactyly OMIM:617667
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... ORPHA:3253
Yunis-Varon Syndrome
Redundant neck skin, Congenital hip dislocation, Single transverse palmar crease, Short metatarsa... OMIM:216340
Doors Syndrome
Thickened nuchal skin fold, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morp... ORPHA:79500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Syndactyly, Bicuspid aortic valve, Ventricular septal defect, Broad hallux, Deviatio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Syndactyly, Bicuspid aortic valve, Ventricular septal defect, Broad hallux, Deviatio... ORPHA:353277
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Hydrocephalus, Abnormal fin... ORPHA:2658
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Short foot, Short palm, Clinodactyly of the 5th finger, Short ... ORPHA:264200
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... ORPHA:2750
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral brachydactyly, Low posterior hairline, Aplasia/Hypoplasia involving the sh... ORPHA:1521
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma OMIM:129400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Finger syndactyly, Genu varum ORPHA:1969
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Long neck, Short foot, Clinodactyly of the 5th finger,... ORPHA:1974
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, Atrial septal def... OMIM:619869
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Clinodactyly of the 5th... ORPHA:96123
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Hip dysplasia, Clinodactyly of t... OMIM:616975
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand ORPHA:1300
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal heart morphology ORPHA:93924
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly OMIM:616430
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Palmoplantar keratoderma... ORPHA:1071
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Postaxial polydactyly, Situ... OMIM:619534
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... ORPHA:1896
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... ORPHA:69085
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Clinodactyly of the 5th finger, Single transverse palmar c... OMIM:223370
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Abnormality of the upper limb, Short... ORPHA:1556
Hartsfield Syndrome
Syndactyly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Semilobar holoprosen... OMIM:615465
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Bloom Syndrome
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly OMIM:210900
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe clinod... OMIM:620330
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Scapular winging, Short metacarpal, Bicuspid aortic valve, Single transverse palmar c... OMIM:150230
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Pericardial effusion, Camptodactyly of finger ORPHA:2136
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal hip bone morpho... ORPHA:2907
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Hip dislocation, Abnormal fing... ORPHA:744
Fraser Syndrome
Encephalocele, Finger syndactyly, Toe syndactyly, Myelomeningocele, Umbilical hernia, Wide pubic ... ORPHA:2052
Coffin-Siris Syndrome 12
Hip subluxation, Short thumb, Slender finger, Noncommunicating hydrocephalus, Cutaneous syndactyl... OMIM:619325
Mckusick-Kaufman Syndrome
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly OMIM:236700
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Preaxial hand polydactyly, Postaxial hand... ORPHA:2753
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Syndactyly, Hallux valgus, Ulnar deviation of the hand, Bicuspid aorti... ORPHA:261537
Fraser Syndrome 2
Cutaneous syndactyly, Short neck OMIM:617666
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Holoprosencephaly OMIM:618820
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Syndactyly, Hallux valgus, Ulnar deviation of the hand, Bicuspid aorti... ORPHA:261552
Mowat-Wilson Syndrome
Delayed eruption of teeth, Syndactyly, Hallux valgus, Ulnar deviation of the hand, Bicuspid aorti... ORPHA:2152
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis ORPHA:137605
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... ORPHA:2908
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Microphthalmia, Syndromic 1
Syndactyly, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short... OMIM:309800

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 Isyna1

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 Isyna1.

No publications found that use IMPC mice or data for Isyna1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Isyna1tm438165(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Isyna1em1(IMPC)Bay Exon Deletion Mice
Isyna1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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