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Gene: Gja1 MGI:95713

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gap junction protein, alpha 1
Synonyms:
Cx43alpha1,  connexin 43,  Gja-1,  Cnx43,  Cx43,  connexin43,  alpha 1 connexin

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gja1 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 Gja1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Craniometaphyseal Dysplasia, Autosomal Recessive
Macrocephaly, Bony paranasal bossing, Mixed hearing impairment, Patchy sclerosis of finger phalan... OMIM:218400
Oculodentodigital Dysplasia
Hip dislocation, Selective tooth agenesis, Atrial septal defect, Cleft palate, Carious teeth, Bro... OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Broad long bones, Persistent pupillary membrane, Narrow... OMIM:257850
Oculodentodigital Dysplasia
Camptodactyly of finger, Tooth agenesis, Abnormal diaphysis morphology, Ventricular septal defect... ORPHA:2710
Erythrokeratodermia Variabilis
Cataract, Skin rash, Patchy palmoplantar hyperkeratosis, Tapered finger, Corneal opacity, Abnorma... ORPHA:317
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Mitral atresia, Hypoplastic aortic arch, Patent duc... ORPHA:2248
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Osteopetrosis, Sensorineural hearing im... ORPHA:1522
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract, Flexion contracture of finger ORPHA:1010

The table below shows human diseases predicted to be associated to Gja1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... OMIM:614916
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palmop... OMIM:611528
Myxoma, Intracardiac
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis OMIM:255960
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602087
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... OMIM:620247
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... OMIM:613251
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... OMIM:113900
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Failure to thrive, Sick sinus s... OMIM:616201
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Glycogen Storage Disease Xv
ST segment elevation, Scapular winging, Ventricular fibrillation, Paroxysmal ventricular tachycar... OMIM:613507
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... OMIM:608758
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Congenital Heart Defects, Multiple Types, 2
Ventricular septal defect, Aortic aneurysm, Tetralogy of Fallot, Left ventricular outflow tract o... OMIM:614980
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Nathalie Syndrome
Abnormal EKG OMIM:255990
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... OMIM:611493
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Atrial Septal Defect 2
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal d... OMIM:607941
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Nathalie Syndrome
Arrhythmia ORPHA:2663
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... OMIM:614954
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Clubbing of fingers, Congestive heart failure, Palmoplantar keratoderma,... OMIM:605676
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... OMIM:612098
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Syndactyly, Sudden cardiac death, ... OMIM:618447
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... OMIM:615779
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Long Qt Syndrome 11
Prolonged QTc interval, Syncope OMIM:611820
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 12
Abnormal male germ cell morphology, Azoospermia OMIM:615413
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 7
Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertro... OMIM:613690
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Andersen-Tawil Syndrome
Prolonged QTc interval, Oligodontia, Hyperaldosteronism, Abnormal T-wave, Torsade de pointes, Pal... ORPHA:37553
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619699
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Chromosome 1P36 Deletion Syndrome, Proximal
Camptodactyly, Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricul... OMIM:619343
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... ORPHA:3400
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Shoulder girdle muscle ... ORPHA:263297
Fixed Subaortic Stenosis
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... ORPHA:3092
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... ORPHA:229
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Mitral regurgitation, Iris coloboma, Hypoplasia of teeth, Osteolysis involving bon... ORPHA:88630
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Dilated cardiomyopathy, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm ORPHA:542306
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... OMIM:613873
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Aortic Valve Disease 2
Coarctation of aorta, Mitral regurgitation, Pulmonic stenosis, Aortic aneurysm, Calcification of ... OMIM:614823
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Hydrops... ORPHA:2414
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QTc interval, Oligodontia, Short metatarsal, Small finger, Cleft palate, Toe syndactyly... OMIM:170390
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Short stature, Decreased fertility, Secondary amenorrhea, Hypogonadotropic hy... ORPHA:1643
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... ORPHA:3246
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... ORPHA:75566
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Morbid Obesity And Spermatogenic Failure
Hypertension, Infertility, Azoospermia, Congestive heart failure, Type II diabetes mellitus, Myoc... OMIM:615703
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Left ventricular diastolic dysfunction, Systolic heart murmur, Pulmo... OMIM:620067
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hypertension, Hyperinsulinemia, Infertility, Abnormal circula... ORPHA:280356
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Respiratory distress,... OMIM:613642
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Palmoplantar keratode... ORPHA:34217
Preeclampsia
Small for gestational age, Polycystic ovaries, Elevated systolic blood pressure, Hypertension, In... ORPHA:275555
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Cleidocranial Dysplasia
Macrocephaly, Chronic otitis media, Cleft palate, Hearing impairment, Supernumerary tooth, Decrea... ORPHA:1452
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Infertility, Azoospermia, Congestive heart failure, Hypogonadotropic ... OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... OMIM:614022
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Tooth agenesis, Bacterial endocarditis, Heart block, Premature ventricular contraction, Micrognat... ORPHA:1964
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... OMIM:611878
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Diabetes mellitus, Abnormal atrioventric... ORPHA:563
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome, Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydac... OMIM:140450
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Palpitations, Knee flexion contracture, Decreased cervical spine flexion due to co... OMIM:310300
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology, Supernumerary tooth, Carious teeth,... ORPHA:3145
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... OMIM:606685
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Decreased testicular size, Cryptorchidism, Atrial septal defect, In... OMIM:610198
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... OMIM:610140
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... OMIM:608751
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Patent foramen ovale OMIM:617182
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Mitral regurgitation, Aortic regurgitation, Tricuspi... OMIM:314400
Spermatogenic Failure 17
Male infertility OMIM:617214
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex cong... OMIM:611369
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Macrocephaly, Pectus excavatum, Malar flattening, Short nose, Depressed nasal bridge, Hypoplasia ... ORPHA:2835
Mulibrey Nanism
Iris coloboma, Hypoplastic frontal sinuses, Astigmatism, Enamel hypoplasia, Corneal dystrophy, Ab... OMIM:253250
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Antley-Bixler Syndrome
Craniosynostosis, Elbow ankylosis, Camptodactyly of finger, Low-set, posteriorly rotated ears, Jo... ORPHA:83
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... ORPHA:1891
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Short stature, Hyperinsulinemia, H... ORPHA:3085
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... OMIM:601005
Atrial Septal Defect, Ostium Primum Type
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... ORPHA:99106
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... OMIM:249670
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Intrauterine growth retardation, Hypertrophic ... OMIM:616276
Ebstein Anomaly
Right bundle branch block, Atrial septal defect, Atrial standstill, Sudden cardiac death, Ebstein... OMIM:224700
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Dysostosis, Stanescu Type
Macroglossia, Increased bone mineral density, Pectus excavatum, Abnormality of the dentition, Too... ORPHA:1798
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Aorta Coarctation
Stroke, Pulmonary arterial hypertension, Hypoplastic left heart, Coarctation of the descending ao... ORPHA:1457
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... OMIM:185500
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Macrocephaly, Conductive hearing impairment, Abnormal rib morphology, ... ORPHA:1513
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy,... ORPHA:91130
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Sudden Cardiac Failure, Infantile
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... OMIM:617222
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Intrauterine growth retardation, Ventricular hypertrophy, Failure t... OMIM:619048
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Naxos Disease
Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palpitations, Arrhythmia, Sudde... OMIM:601214
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Fle... OMIM:618815
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Reduced left ventricular ejection fraction, Aortic aneurysm, Right atrial enlargemen... OMIM:612422
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Hypogonadism, Weakness of facial musculature, Elevated circulatin... OMIM:602668
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Craniodiaphyseal Dysplasia, Autosomal Dominant
Concave nasal ridge, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis... OMIM:122860
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... OMIM:620236
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Polycystic ovaries, Hypertension, Hyperinsulinemia ORPHA:79084
Danon Disease
Lower limb amyotrophy, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely... OMIM:300257
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Malar flattening, Abnormality of dental morphology, Maxillozyg... ORPHA:2972
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... OMIM:613854
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Filippi Syndrome
2-4 toe syndactyly, Cryptorchidism, Ambiguous genitalia, Ventricular septal defect, Serrated inci... OMIM:272440
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Ventricular septal defect, Coronary artery fistula, Congenital diaphragmatic hernia... OMIM:614294
Aortic Valve Disease 3
Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Aortic valve stenosis, Ascendi... OMIM:618496
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Craniometadiaphyseal Dysplasia
Absent paranasal sinuses, Macrocephaly, High palate, Low-set ears, Malar flattening, Wide anterio... OMIM:269300
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Maculopapular exanthema, Malar rash, Skin r... ORPHA:398124
Distal 17P13.1 Microdeletion Syndrome
High palate, Retrognathia, Generalized joint laxity, Prominent nasal bridge, Protruding ear, Limi... ORPHA:319171
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Hamamy Syndrome
Prolonged QRS complex, Inguinal hernia, Hip dysplasia, Atrial septal defect, Hypoparathyroidism, ... OMIM:611174
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Ataxia-Telangiectasia
Delayed puberty, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Polycystic ovaries, Mucosal... ORPHA:100
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Neck joint contractur... OMIM:181350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Oligodontia, Atrial septal defect, Misalignment of incisors, Arrhythmia, Astigmatism, Enamel hypo... OMIM:619184
Combined Oxidative Phosphorylation Deficiency 17
Death in childhood, Intrauterine growth retardation, Death in infancy, Failure to thrive, Congest... OMIM:615440
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Death in infancy, Failure to thrive, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... OMIM:265900
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Ventricular septal defect, Death in infancy, Hypertrophic cardiomyopathy OMIM:616277
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Abnormality of the palmar creases, Tricuspid reg... OMIM:618652
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Carotid artery stenosis, Bicuspid aortic valve, ... OMIM:602531
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Periventricular Nodular Heterotopia
Aortic aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus, Aortic regurgitation ORPHA:98892
Cleidocranial Dysplasia 2
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Delayed ossification of carpa... OMIM:620099
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation, Reduced left ventricular e... OMIM:614672
Flat Face-Microstomia-Ear Anomaly Syndrome
Long nose, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnormal antitragus morpho... ORPHA:1968
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tooth malposition, Abnormal lens morphology, Complete duplication of the middle phal... ORPHA:363417
Arrhythmogenic right ventricular dysplasia, familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Edema, Decreased DLCO, Restrictive ventilatory defe... ORPHA:2302
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... ORPHA:99094
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Pyknoachondrogenesis
Stillbirth OMIM:265880
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Teebi Hypertelorism Syndrome 2
High palate, Broad nasal tip, Short nose, Wide anterior fontanel, Microdontia, Cleft palate, Ever... OMIM:619736
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneury... OMIM:619825
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Acrofacial Dysostosis, Catania Type
Pectus excavatum, Abnormality of the dentition, Tooth agenesis, Abnormal palate morphology, Low-s... ORPHA:1786
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Familial Bicuspid Aortic Valve
Heart murmur, Coarctation of aorta, Hypoplastic left heart, Aortic arch aneurysm, Hypertension, A... ORPHA:402075
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Hypotension, Atrial septal defect, Ventricular septal defect, Astigmatism, Long fin... OMIM:615668
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Anemia, Muscular dystrophy, Enamel hypoplasia, Increased connective tissu... OMIM:226670
Interstitial Pneumonitis, Desquamative, Familial
Cough, Respiratory distress, Cor pulmonale, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Ventricular septal defect, Atrial septal defect, Hypothyroidism, Pate... OMIM:619189
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... ORPHA:1209
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Hypoplastic aortic arch, Ventricular s... ORPHA:860
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Telangiectasia, Azoospermia, I... OMIM:235200
Chromosome 6Pter-P24 Deletion Syndrome
Hip dysplasia, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Rocker botto... OMIM:612582
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal midface morphology, Abnormal cementum morphology, Atrophy of alveo... ORPHA:83451
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... OMIM:611705
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation ORPHA:90647
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Right aortic arch, Pulmonic stenosis, Tetralogy of Fallot, Absence of t... OMIM:618780
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Palmoplantar keratoderma, Dilated cardiomyopathy OMIM:615821
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Isolated Right Ventricular Hypoplasia
Dyspnea, Systolic heart murmur, Right ventricular failure, Atrial septal defect, Hypoxemia, Right... ORPHA:439
48,Xyyy Syndrome
Irregularly spaced teeth, High palate, Dislocated radial head, Enamel hypoplasia, Acne, Azoosperm... ORPHA:99329
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Mandibu... ORPHA:2790
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Knee flexion contracture, Achilles tendon contracture, Right bund... OMIM:300695
Toluene Embryopathy
Biparietal narrowing, Low-set ears, Protruding ear, Short nose, Smooth philtrum, Thin vermilion b... ORPHA:1920
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anemia, Widely spa... OMIM:618067
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycardia, Abnormal capi... ORPHA:90064
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Histiocytoid Cardiomyopathy
Congenital aphakia, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular septal d... ORPHA:137675
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Decreased testicular size, Hypogonadism, Abnormality of the ovary, Congenital muscular ... ORPHA:1875
Congenital Aortic Valve Stenosis
Abnormal T-wave, Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Thoracic ao... ORPHA:3093
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly OMIM:618453
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Hyperhidrosis, Cardiomegaly, Thin upper ... OMIM:613576
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Atrophic scars, Camptodactyly, Inguinal hernia, High palate, Mitral regurgitation, Bilateral tali... OMIM:615539
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Azoospermia, Mitral valve prolapse, Abnormality of... ORPHA:2183
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
Criss-Cross Heart
Pulmonic stenosis, Ventricular septal defect, Respiratory insufficiency, Supravalvular aortic ste... ORPHA:1461
Perching Syndrome
Respiratory distress, Cyanosis, Camptodactyly, Joint contracture OMIM:617055
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Aortic regurgitation, Persistent... OMIM:609008
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased testicular size, Cerebral hemorrhage, Ischemic stroke, Hypertension, D... ORPHA:280679
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Congenital Generalized Lipodystrophy
Oligomenorrhea, Diabetes mellitus, Polycystic ovaries, Clitoral hypertrophy, Precocious puberty i... ORPHA:528
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Inguinal hernia, Tooth agenesis, Flattened epiphysis, Advanced ossification of carpa... OMIM:618363
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... ORPHA:66529
Partial Atrioventricular Septal Defect
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Transient ischemic attack, A... ORPHA:1330
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Polycystic Ovary Syndrome 1
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea, Obesity OMIM:184700
Brachydactyly Type A7
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... ORPHA:93397
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Low-set ears, Protruding ear, Mandibular prognathia, Smooth philtrum, Wide nasal bridge, Joint hy... ORPHA:1778
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Congenital Fibrinogen Deficiency
Decreased testicular size, Micropenis, Left ventricular hypertrophy, Right ventricular hypertroph... ORPHA:335
Marshall Syndrome
High palate, Abnormality of the dentition, Hypoplastic frontal sinuses, Malar flattening, Short n... ORPHA:560
Nager Syndrome
Low-set, posteriorly rotated ears, Abnormal palate morphology, Joint stiffness, Abnormal nasal mo... ORPHA:245
Brachydactyly, Type A2
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... OMIM:112600
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metaphysis morphology, Abnormal metacarpal morphology, Clinodactyly of th... ORPHA:2370
Congenital Factor Vii Deficiency
Intracranial hemorrhage, Joint hemorrhage, Gastrointestinal hemorrhage, Ovarian cyst, Menorrhagia... ORPHA:327
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Camptodactyly, Open mouth, High palate, Cryptorchidism, Ventricular septal defect, ... ORPHA:369891
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Lessel-Kreienkamp Syndrome
Open mouth, Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve, Dental malocclusion, ... OMIM:619149
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Intrauterine growth retardation, Failure to thrive, Pericardial effusi... OMIM:614702
Developmental And Epileptic Encephalopathy 101