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Gene: Tbx3 MGI:98495

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Gene Summary

Name:
T-box 3
Synonyms:
D5Ertd189e

Order Alleles

IMPC Data Collections

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
abnormal spleen morphology Tbx3em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Tbx3em1(IMPC)Mbp HET Early adult 0.00
decreased locomotor activity Tbx3em1(IMPC)Mbp HET Early adult 3.04×10-17
embryonic lethality prior to organogenesis Tbx3em1(IMPC)Mbp HOM   E9.5 0.00
abnormal eye morphology Tbx3em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Tbx3em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Tbx3em1(IMPC)Mbp HET Early adult 0.00
increased grip strength Tbx3em1(IMPC)Mbp HET Early adult 2.72×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Tbx3 mutations

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

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

The table below shows human diseases associated to Tbx3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ulnar-Mammary Syndrome
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec... OMIM:181450
Ulnar-Mammary Syndrome
Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno... ORPHA:3138

The table below shows human diseases predicted to be associated to Tbx3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... OMIM:613697
Nathalie Syndrome
Arrhythmia ORPHA:2663
Syngnathia
Cleft palate OMIM:119550
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... OMIM:310300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... OMIM:612158
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Holt-Oram Syndrome
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Phocomelia, Limited elbo... OMIM:142900
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Holt-Oram Syndrome
Atrioventricular canal defect, Absent thumb, Phocomelia, Ventricular septal defect, Abnormality o... ORPHA:392
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent forearm, Aplasia of metacarpal bones, S... OMIM:200500
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Aplasia of the ulna, Hand oligodactyly, Neonatal death, Endocardial fibroelastosis OMIM:276822
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Attrv30M Amyloidosis
Cardiomyopathy, Atrioventricular block, Arrhythmia ORPHA:85447
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... OMIM:610797
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Brachydacty... ORPHA:52056
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Gait disturbance, Splenomegaly, Hepatomegaly ORPHA:2274
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Abnormal cardiac... ORPHA:3320
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Rhizomelia, Malaligned carpal bone, Short metacarpa... OMIM:228900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Na... OMIM:603546
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... ORPHA:85170
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Nemaline Myopathy 11, Autosomal Recessive
First degree atrioventricular block, Cardiomyopathy OMIM:617336
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Radial deviation of the hand, Micrognathia, Met... ORPHA:2756
Ivic Syndrome
Absent thumb, Short femur, Pectoralis major hypoplasia, Short 1st metacarpal, Carpal synostosis, ... OMIM:147750
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... OMIM:112910
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... OMIM:609441
Lethal Faciocardiomelic Dysplasia
Short tibia, Patent ductus arteriosus, Radial club hand, Short 5th finger, Hypoplasia of the radi... ORPHA:1972
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... OMIM:177170
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Uvula, Bifid
Bifid uvula OMIM:192100
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Ulnar Hemimelia
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
Leri-Weill Dyschondrosteosis
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... OMIM:127300
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, S... OMIM:232300
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, ... OMIM:617247
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... OMIM:274000
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... ORPHA:137675
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Absent trapezium, Apla... OMIM:606895
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Syndactyly, Prolonged ... OMIM:601005
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Clubbing of fingers, Pulmonary artery dilatation, Palpitations, Peripheral... ORPHA:99106
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Abnormal foot morphology, Elbow flexion contracture, Flared iliac wing, Flat acetabula... OMIM:184252
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... OMIM:212138
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... ORPHA:2141
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Atelosteogenesis, Type I
Polyhydramnios, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dis... OMIM:108720
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... OMIM:171480
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy OMIM:618815
Phocomelia, Schinzel Type
Hydrops fetalis, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognath... ORPHA:2879
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Hip dislocatio... OMIM:605274
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i... OMIM:620066
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Cardiomyopathy, Abnormal left ventricular function, Heart block ORPHA:98912
Dystonia 23
Arrhythmia OMIM:614860
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... ORPHA:75508
Metaphyseal Anadysplasia
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... ORPHA:1040
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Tapered finger, Short femoral neck, Patellar dislocation, Multiple join... OMIM:618395
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Hypertrophic cardiomyopathy, Shortened ... ORPHA:308552
Tukel Syndrome
Carpal synostosis, Syndactyly, Congenital fibrosis of extraocular muscles, Carpal bone aplasia, P... OMIM:609428
Eiken Syndrome
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal fingertip morp... ORPHA:79106
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... OMIM:276820
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly ORPHA:2730
Ulnar-Mammary Syndrome
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec... OMIM:181450
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Abnormal carpal morpholog... ORPHA:2632
Boomerang Dysplasia
Neonatal death, Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... ORPHA:85451
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasi... OMIM:227270
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Cleft Soft Palate
Cleft soft palate OMIM:119570
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... ORPHA:263297
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Abnormali... ORPHA:40366
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Left ventricular systolic dysfunction, Dilated cardiomyopathy ORPHA:206559
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... ORPHA:398124
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... OMIM:223800
Ulnar-Mammary Syndrome
Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno... ORPHA:3138
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, White forelock, Ost... ORPHA:2779
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Illum Syndrome
Bradycardia OMIM:208155
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... ORPHA:216694
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Aplasia/Hypoplasia of the abdo... ORPHA:1263
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG ORPHA:1177
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Shortened PR interval, Prolonged QT interval, Palpitations, Se... ORPHA:79102
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... ORPHA:2634
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... OMIM:250420
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Atrophoderma Vermiculata
Heart block ORPHA:79100
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Myotonic Dystrophy 1
Atrial flutter, First degree atrioventricular block, Atrial fibrillation OMIM:160900
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Abnormal hand morphology, Sclerotic cranial sutures, Ventricular s... ORPHA:371428
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip subluxation, Genu valgum, Reduced pancreatic beta cells, Coxa valga, Hypoplasia of the odonto... OMIM:226980
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy ORPHA:320360
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... ORPHA:1570
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... ORPHA:98855
Radial Hemimelia
Deviation of the hand or of fingers of the hand, Aplasia of the 1st metacarpal, Abnormality of th... ORPHA:93321
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Cardiomegaly, Abnormal cardiac ventricular functi... ORPHA:1677
Mucolipidosis Iii Alpha/Beta
Short ribs, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Aortic regurgitation... OMIM:252600
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Hypoplastic iliac wing, Short toe, Flexion contracture, Short foot, Shor... OMIM:611717
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... ORPHA:166016
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Hand polydactyly, Atrial septal... OMIM:249670
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... ORPHA:570
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... ORPHA:98853
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Pes cavus, Abnormal left ventricular ... ORPHA:437572
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... ORPHA:90652
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... OMIM:184253
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... ORPHA:79094
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Variegate Porphyria
Tachycardia OMIM:176200
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... ORPHA:98863
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... ORPHA:3104
Orofaciodigital Syndrome Vi
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Micrognathia, Preaxial foot polydact... OMIM:277170
Cousin Syndrome
Hypoplastic iliac wing, Wrist flexion contracture, 2-3 toe syndactyly, Hypoplastic pubic bone, Rh... OMIM:260660
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Absent forearm, Micrognathia, Clinodactyly, O... OMIM:201170
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly OMIM:614416
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Atelosteogenesis Type Iii
Short tibia, Hand clenching, Polyhydramnios, Vertebral hypoplasia, Short tubular bones of the han... ORPHA:56305
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro... OMIM:613690
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Clinodactyly of the 5th finger, Atrial septal defect, Oligodactyly... ORPHA:521308
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Absent atrioventricular node, Atrial arrhythmia, Ca... OMIM:234700
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... ORPHA:1880
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Ventricular septal defect, S... ORPHA:2256
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Brachydactyly Type A1
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... ORPHA:93388
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Acromesomelic Dysplasia 4
Short phalanx of finger, Short toe, Genu valgum, Third degree atrioventricular block, Metaphyseal... OMIM:619636
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest OMIM:618951
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Breast aplasia, Arachnodactyly OMIM:612242
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... OMIM:164900
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Feingold Syndrome 2
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... OMIM:614326
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Atrial Fibrillation, Familial, 6
Elevated left ventricular end-diastolic diameter, Atrial fibrillation, Reduced left ventricular e... OMIM:612201
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A... ORPHA:26793
Baller-Gerold Syndrome
Absent thumb, Aplasia of metacarpal bones, Micrognathia, Short humerus, Aphalangy of the hands, L... OMIM:218600
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia, Femoral bowing,... OMIM:616723
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelic arm shortening, Iliac crest serration, Myocarditis, Short metacarpal, Atrioventricular... ORPHA:93317
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Bardet-Biedl Syndrome 6
External genital hypoplasia, Vaginal atresia, Hypospadias OMIM:605231
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Abnorm... ORPHA:1307
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... OMIM:618052
Otoonychoperoneal Syndrome
Knee flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Ankle flexion contra... OMIM:259780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Cranioacrofacial Syndrome
Dupuytren contracture, Abnormal hand morphology, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Arthritis... ORPHA:1937
Craniosynostosis, Adelaide Type
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... OMIM:600593
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Atrioventricular canal defect, Short humerus, Hand polydactyly, Dextrocardia, Pro... OMIM:314390
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... OMIM:615297
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... OMIM:600309
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Clubbing of fingers, Edema, Ventricular tachyca... OMIM:605676
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Weismann-Netter Syndrome
Abnormality of the humerus, Femoral bowing, Squared iliac bones, Abnormality of tibia morphology,... ORPHA:3344
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... ORPHA:2019
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... ORPHA:1447
Feingold Syndrome Type 2
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... ORPHA:391646
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Abnormality of the wrist, Split hand, Micromelia, Postaxial hand polyda... ORPHA:2491
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hypoplasia of the radius, Micrognathia, Hand oligodactyly, Proximal placement of th... OMIM:602418
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Patent ductus arteriosus, Delayed closure of the anterior fontanelle,... OMIM:300373
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... ORPHA:1837
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... OMIM:250460
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Mucolipidosis Ii Alpha/Beta
Hip subluxation, Coxa valga, Wide intermamillary distance, Flared iliac wing, Micrognathia, Campt... OMIM:252500
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
46,Xy Sex Reversal 6
Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys... OMIM:613762
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Widely patent coronal suture, Narrow greater sciatic no... OMIM:228520
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Abnormality of th... ORPHA:2878
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:310200
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Mahvash Disease
Palpitations OMIM:619290
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Finger syndactyly, Oligodactyly ORPHA:2440
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... OMIM:176240
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Tetanus
Tachycardia, Bradycardia, Hypertension ORPHA:3299
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... ORPHA:2633
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... ORPHA:174
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... ORPHA:99104
Roberts-Sc Phocomelia Syndrome
Wrist flexion contracture, Absent thumb, Polyhydramnios, Micrognathia, Tetraphocomelia, Elbow fle... OMIM:268300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Abnormal eyebrow morphology, Acroosteolysis of distal phalanges (feet), Absent eyelashe... ORPHA:90153
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix morphology ORPHA:3411
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction OMIM:613876
Mental Retardation Syndrome, Mietens-Weber Type
Elbow flexion contracture, Dislocated radial head, Forearm undergrowth, Pes planus, Absent proxim... OMIM:249600
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Heart murmur, Transient ischemic attack, Hypertrophic... ORPHA:365
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Acrorenal Syndrome
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect ORPHA:2515
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular... OMIM:540000
Endove Syndrome, Limb-Only Type