Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
T-box 3
Synonyms:
D5Ertd189e

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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
Arrhythmia, Syncope OMIM:115080
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Syngnathia
Cleft palate OMIM:119550
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Nathalie Syndrome
Abnormal EKG OMIM:255990
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Nathalie Syndrome
Arrhythmia ORPHA:2663
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope OMIM:616812
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrial arrhythmia, Atrioventricular block OMIM:310300
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Holt-Oram Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... OMIM:142900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Uvula, Bifid
Bifid uvula OMIM:192100
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Cleft Soft Palate
Cleft soft palate OMIM:119570
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Holt-Oram Syndrome
Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones, Phocomeli... ORPHA:392
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Endocardial fibroelastosis, Aplasia of the ulna, Neonatal death, Hand oligodactyly OMIM:276822
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Metaphyseal irregularity, Narrow pelvis bone, Ulnar ... OMIM:610797
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Metaphyseal irregularity, Carpal bone hypoplasia, Long proximal phala... OMIM:603546
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... ORPHA:439232
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Cardiomyopathy, Familial Hypertrophic, 4
Right bundle branch block, Left bundle branch block, Atrioventricular block, Ventricular fibrilla... OMIM:115197
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
X-Linked Centronuclear Myopathy
Atrioventricular block ORPHA:596
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
46,Xx Sex Reversal 4
Ambiguous genitalia, Clitoral hypertrophy, Micropenis, Penoscrotal hypospadias OMIM:617480
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Fused cervical vertebrae, Clinod... ORPHA:3320
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Still... OMIM:200700
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Fibular aplasia, Tar... ORPHA:2756
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:232300
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Patent ductus arteriosus, Short clavicles, Short ... OMIM:147750
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Patent ductus arteriosus, Hypoplas... ORPHA:1972
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Hypertrophic cardiomyopathy OMIM:300696
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... ORPHA:137675
Atelosteogenesis, Type I
Polyhydramnios, Short metatarsal, Elbow dislocation, Multinucleated giant chondrocytes in epiphys... OMIM:108720
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Patent ductus arter... ORPHA:457395
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Sc phocomelia syndrome
Wormian bones, Aplasia of the ulna, Radial deviation of finger, Aortic valve stenosis, Absent rad... OMIM:269000
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... OMIM:606895
Leri-Weill Dyschondrosteosis
Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal... OMIM:127300
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talip... ORPHA:52056
Atrial Septal Defect, Ostium Primum Type
Clubbing of fingers, Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary... ORPHA:99106
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Timothy Syndrome
Cutaneous syndactyly, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... OMIM:601005
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Enlarged joints, Carpal bone hypoplasia, Severe carpal ossification de... OMIM:184252
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Multiple joint dislocation, Metaphyseal irregularity, Carpal bone hypopla... OMIM:618395
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Variegate Porphyria
Tachycardia OMIM:176200
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Talipes equinovalg... OMIM:605274
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral ... OMIM:276820
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Ulnar-Mammary Syndrome
Cryptorchidism, Absent hand, Postaxial hand polydactyly, Camptodactyly of finger, Abnormality of ... ORPHA:3138
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Hypoplastic sacrum, Cone-shaped epiphyses of the phalanges ... OMIM:304950
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Genu valgum, Irregular tarsal ossification, Irregular carpal bones, Hip subluxation, Carpal bone ... OMIM:226980
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Atrioventricular block, Prolong... ORPHA:398124
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Arrhythmia, Radioulnar synostosis, Elbow dislocat... OMIM:171480
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Low-output conge... ORPHA:308552
Tukel Syndrome
Postaxial oligodactyly, Congenital fibrosis of extraocular muscles, Syndactyly, Carpal synostosis... OMIM:609428
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Atrioventricular block, Abnormal atrioventricular conduction OMIM:118230
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Iliac crest serration, Flat acetabular r... OMIM:223800
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal widening, Genu valgum, Metaphyseal irregularity, Broad palm, Carpal bone hypoplasia, ... OMIM:250420
Boomerang Dysplasia
Neonatal death, Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... OMIM:227270
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Antecubital pterygium, Abnormality of the ... ORPHA:40366
Dystonia 23
Arrhythmia OMIM:614860
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Fanconi Anemia, Complementation Group U
Absent scaphoid, Patent ductus arteriosus OMIM:617247
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
Illum Syndrome
Bradycardia OMIM:208155
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Arachnodactyly, Breast aplasia OMIM:612242
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Short toe, Delayed epiphyseal ossification, Short phalanx of finger, Tapered meta... OMIM:611717
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:601493
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asym... OMIM:608571
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Arrhythmia, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short ... ORPHA:1350
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, ... OMIM:259270
Thyrotoxic Periodic Paralysis
Palpitations, Ventricular fibrillation, Shortened PR interval, Prolonged QT interval, Second degr... ORPHA:79102
Boomerang Dysplasia
Polyhydramnios, Abnormality of tibia morphology, Abnormality of femur morphology, Hydrops fetalis... ORPHA:1263
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Moebius Syndrome
Absent hand, Finger syndactyly, Micrognathia, Aplasia of the pectoralis major muscle, Breast apla... ORPHA:570
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Atrioventricular block, Abnormal atrioventricular conduction, Orthostatic hypotension OMIM:118301
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation ORPHA:104
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Ventricular extrasystoles, Heart block ORPHA:1964
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Atrial septal defect, Sclerotic cranial sutures, Ventricular septal defect, Osteolys... ORPHA:371428
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Arrhythm... OMIM:181350
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the metacarpal bones, Hand oligodactyly, Abnormality of the ulna, Cl... ORPHA:3104
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Ulnar Hemimelia
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Antecubital pterygium, Apl... ORPHA:93320
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis, Short greater... OMIM:184253
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Aortic regurgitation, Split hand, Carpal bone hypoplasi... OMIM:252600
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Broad... OMIM:182255
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden cardiac death, Right bu... OMIM:224700
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:613424
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Ulnar-Mammary Syndrome
Hypoplasia of the radius, Postaxial hand polydactyly, Arrhythmia, Ventricular septal defect, Hypo... OMIM:181450
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... OMIM:249670
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Oligohydramnios, Short sternum, Aplasia of the ulna, S... OMIM:266910
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal hair morphology, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Metaphyse... OMIM:250460
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Baller-Gerold Syndrome
Hypoplasia of the radius, Lambdoidal craniosynostosis, Micrognathia, Sagittal craniosynostosis, A... OMIM:218600
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Flared iliac wing, Abn... ORPHA:90652
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Syndacty... ORPHA:79094
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Absent forearm, Overlapping toe, Fibular hypoplasia, Clinodact... OMIM:201170
Heart Block, Congenital
Absent atrioventricular node, Atrial arrhythmia, Atrioventricular block, Mitral regurgitation, Ca... OMIM:234700
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Atrial septal defect, Pes planus, Clinodactyly of the 3rd toe, Clinodactyly of the ... ORPHA:521308
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Craniosynostosis, Humeroradial synostosis, Arachnodactyly OMIM:614416
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest OMIM:618951
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Neonatal death,... OMIM:228940
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Mucolipidosis Ii Alpha/Beta
Wide intermamillary distance, Flared iliac wing, Split hand, Carpal bone hypoplasia, Hypoplastic ... OMIM:252500
Cranioacrofacial Syndrome
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect OMIM:122850
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Polyhydramnios, Patellar dislocation,... ORPHA:56305
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Arrhythmia, Short palm, Cone-shaped epiphysis, Rhizomelic arm short... ORPHA:93317
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Hypoplastic right heart, Ventricular septal defect, Split foot, Tetralogy of Fallot, Micrognathia OMIM:601348
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Polyhydramnios, Finger syndactyly, Ventricular sep... ORPHA:2256
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Patent ductus arteriosus, Breast aplasia, Curved middle phalanx of the 4th toe... ORPHA:276413
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Hypochondroplasia
Limited elbow extension, Aplasia/hypoplasia of the extremities, Short long bone, Flared metaphysi... OMIM:146000
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Double-layered patella, Shor... ORPHA:93307
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Brachydac... ORPHA:1937
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... ORPHA:26793
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Pes planus, Increased endomysial connective t... ORPHA:437572
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Clubbing of fingers, Palmoplantar keratoderma, Cardiomyocyte hypertrophy, Ventricular tachycardia... OMIM:605676
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Oligohydramnios, Forearm undergrowth, Ab... OMIM:251230
Adams-Oliver Syndrome 4
Short toe, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Atrioventricular Septal Defect 3
Midsystolic murmur, Hypertension, Congestive heart failure, First degree atrioventricular block, ... OMIM:600309
Otoonychoperoneal Syndrome
Hip contracture, Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Knee flexion contra... OMIM:259780
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Microretrognathia, Aplasia/Hypoplasia of the radius, Abnormality... ORPHA:1307
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydac... ORPHA:391646
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow dislocation,... ORPHA:3258
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Fibular aplasia, Atrial septal defect, Delayed closure of the anterior fontanelle... OMIM:300373
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Metaphyseal irregularity, Delayed ossification of carpal bones, Irregular epiphyses,... OMIM:607078
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Sinus tachycardia, Right bundle branch block, Hypertension OMIM:614008
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped carpal bones, ... ORPHA:968
Mahvash Disease
Palpitations OMIM:619290
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Cerebral ischemi... ORPHA:1880
Fibrochondrogenesis 1
Hydrops fetalis, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ... OMIM:228520
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Arrhythmia, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplas... ORPHA:2878
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Limb-Mammary Syndrome
Oligodactyly, Sparse eyebrow, Aplasia of the ovary, Absent nipple, Bilateral breast hypoplasia, T... ORPHA:69085
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypertrophic cardiomyopathy OMIM:614702
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Synostosis of carpal bones, Hypoplastic pe... ORPHA:93351
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Ventricular septal defect ORPHA:2515
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Vasculitis, Tran... ORPHA:365
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia, Ulnar deviation of finger, Abnormality of pelvic girdle bone... ORPHA:2928
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Hypoplasia of the... OMIM:600123
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Abnormality of the uterine cervix, Uterus didelphys ORPHA:3411
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension OMIM:617021
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Splenomegaly, Abnormality of femur mor... ORPHA:1802
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:609040
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Low anterior hairline, Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Hir... OMIM:610442
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Abnormal hip bone morphology, U... ORPHA:1146
Lujo Hemorrhagic Fever
Cardiac arrest, Gastrointestinal hemorrhage ORPHA:319213
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy OMIM:613690
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Pes cavu... OMIM:613458
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:612964
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Abnormal left ventricular function OMIM:618098
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Cryptorchidism, Camptodactyly of finger, Craniosynostosis, Elbow dislocation,... ORPHA:2554
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Friedreich Ataxia
Abnormal EKG, Abnormal echocardiogram, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:229300
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99104
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality of epiphysi... ORPHA:1388
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Heart murmur, P... ORPHA:422
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Scalp-Ear-Nipple Syndrome
Sparse hair, Abnormal hair morphology, 2-3 toe syndactyly, 3-4 finger cutaneous syndactyly, Breas... OMIM:181270
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Spli... OMIM:609945
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hypospadias, Clitoral hypertrophy OMIM:613762
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... ORPHA:2249
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Overlapping toe, Ventricular septal def... OMIM:614262
Spastic Paraplegia 9A, Autosomal Dominant
Carpal bone hypoplasia, Lower limb muscle weakness, Generalized amyotrophy, Pes cavus, Abnormalit... OMIM:601162
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Distal Myopathy, Tateyama Type
Palpitations ORPHA:488650
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Ventricular extrasystoles OMIM:133750
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... ORPHA:1837
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Atrial fibrillation, Prolonged QT interval, Bradycardia OMIM:613327
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Absent radius, Atrioventricular canal defect, Proximal placement... OMIM:314390
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Cardiomyopathy OMIM:613874
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Short metatarsal, Sparse hair, Breast hypoplasia, Hypoplastic pelvis, Cone-sh... OMIM:614813