Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
trans-acting transcription factor 4
Synonyms:
5730497N03Rik,  HF1-b,  HF-1b

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 Sp4 mutations

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

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

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

The table below shows human diseases predicted to be associated to Sp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca... ORPHA:263297
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Nathalie Syndrome
Arrhythmia ORPHA:2663
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Increased varia... OMIM:617072
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At... OMIM:300257
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Spinocerebellar Ataxia 17
Limb ataxia, Bradykinesia, Broad-based gait, Depression, Chorea, Confusion, Gliosis, Positive Rom... OMIM:607136
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, Premature vent... OMIM:212138
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Memory impairment, Depression, Gliosis, Shuffling gait, Gait disturbance, Frontal l... OMIM:221820
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Huntington Disease
Bradykinesia, Depression, Chorea, Gliosis, Gait ataxia, Dementia OMIM:143100
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... ORPHA:98912
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait imbalance, Torticollis, Depression, Gliosis, Gait disturbance, Gait ataxia, Dysphagia, Spast... OMIM:618369
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb mu... OMIM:613205
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E... OMIM:611878
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Gliosis, Polyphagia, Inappropriate lau... OMIM:172700
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl... OMIM:617336
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Myotonic Dystrophy 2
Right bundle branch block, Premature ventricular contraction, Sternocleidomastoid amyotrophy, Gen... OMIM:602668
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Gliosis, Athetosis, Dystonia, Dysphagia OMIM:300857
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle weak... ORPHA:90064
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Myopathy, Arrhythmia ORPHA:104
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Gliosis, Lethargy, Mental deterioration OMIM:613002
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... OMIM:255160
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Falls, Depression, Gliosis, Emotional lability, Tr... ORPHA:683
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Memory impairment, Gliosis, Gait disturbance, Frontal lobe dementia, Disi... OMIM:221770
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy OMIM:255100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy, Distal lower limb muscle weakness, Leg muscle stiffness ORPHA:320360
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve... ORPHA:1686
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 17
Male infertility OMIM:617214
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Abnormality of masseter muscle, Necrotizing myopathy, Cardiomyocyte mitocho... ORPHA:423
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Displacement of the papillary muscl... ORPHA:1329
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Arthrogryposis... OMIM:618397
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Huntington Disease-Like 1
Depression, Chorea, Basal ganglia gliosis, Unsteady gait, Restlessness, Dementia, Mania, Dysmetri... OMIM:603218
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Ventricular fibrillation, Peri... ORPHA:26793
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block... ORPHA:398124
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Familial Atrial Fibrillation
Atrial fibrillation, Palpitations, Syncope, Myocardial infarction ORPHA:334
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Cardiomyopathy, Familial Hypertrophic, 28
Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e... OMIM:619402
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Hypertension, Premature ventricular contraction, Biventricular hypertrophy, Hy... OMIM:620504
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Spinocerebellar Ataxia 14
Progressive cerebellar ataxia, Impaired vibration sensation at ankles, Memory impairment, Depress... OMIM:605361
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate... OMIM:612201
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist... OMIM:619566
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Sporadic Creutzfeldt-Jakob Disease
Memory impairment, Confusion, Astrocytosis, Gliosis, Cognitive impairment, Ataxia, Dementia ORPHA:204
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation OMIM:261990
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Huntington Disease-Like 1
Bradykinesia, Memory impairment, Depression, Chorea, Gliosis, Gait disturbance, Cognitive impairm... ORPHA:157941
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P... ORPHA:75565
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic steno... OMIM:108900
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Leukoencephalopathy With Vanishing White Matter 1
Memory impairment, Emotional lability, Gliosis, Gait disturbance, Unsteady gait, Lethargy OMIM:603896
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Left atrial enlargement, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibri... OMIM:620734
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Rhabdomyolysis OMIM:188580
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Scapular winging, Scapuloperoneal myopathy, Myofibrillar myopathy, For... OMIM:300695
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Generalized amyotrophy, Joint contracture, Arrhythmia OMIM:616516
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia ORPHA:99944
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Atriove... ORPHA:392
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter, Facial diplegia OMIM:160900
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Depression, Resting tremor, Gliosis, Shuffling gait, Gait disturbance, Dystonia, Lo... OMIM:168601
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chore... ORPHA:248111
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy, Bradycardia OMIM:619048
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Atrial fi... ORPHA:137675
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... OMIM:300952
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Frontotemporal dementia, Memory impairment, Gliosis, Polyphagia, Progressive language ... OMIM:607485
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Dystonia, Ataxia, Mental deterioration OMIM:615924
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Distal sensory impairment, Dementia OMIM:604218
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia ORPHA:159
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventri... OMIM:616878
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure OMIM:605676
Hartnup Disorder
Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Hyperactivity OMIM:234500
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali... ORPHA:860
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Frontotemporal dementia, Depression, Gliosis, Disinhibition, Dysph... ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Gliosis, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia ORPHA:276556
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity OMIM:617113
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Right bundle branch block OMIM:613158
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Frontotemporal dementia, Memory impairment, Astrocytosis, Gait disturbanc... OMIM:600795
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Cap Myopathy
Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Reduced systolic function, Increased vari... ORPHA:171881
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ... OMIM:613870
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Agitation, Akinesia, Depression, Low frustration tolerance, Gliosis, Resting tremor... ORPHA:411602
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia ORPHA:276575
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... ORPHA:466677
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Skeletal muscle atrophy, Flexion contracture, Arrhythmia, Myopathy ORPHA:157973
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... ORPHA:206559
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia ORPHA:276580
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Machado-Joseph Disease
Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Truncal ataxia, Gliosis, Dystonia, Atax... OMIM:109150
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Hip contracture, Cardiac conduction abnormalit... ORPHA:97244
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial... OMIM:613874
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Depression, Gliosis, Frontotemporal dementia, Dementia OMIM:105550
Atrophoderma Vermiculata
Heart block ORPHA:79100
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Depression, Gliosis, Ataxia, Progressive neurologic deterioration, Pseudobulbar paralysis OMIM:169500
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Spongiform Encephalopathy With Neuropsychiatric Features
Memory impairment, Gliosis, Aggressive behavior, Dementia OMIM:606688
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Inability to walk, Hyperactivity, Tremor, Dystonia, Ataxia ORPHA:599373
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Memory impairment, Hyperactivity, Depression, Emotional labil... ORPHA:98818
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ... ORPHA:368
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Agenesis of corpus callosum, Restlessness, Lethargy, Ag... OMIM:605899
Snakebite Envenomation
Hypotension, Cerebral ischemia, Muscle fiber necrosis, Rhabdomyolysis, Cardiogenic shock, Epistax... ORPHA:449285
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Mirage Syndrome
Anemia, Hypospadias, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased testicular siz... OMIM:617053
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Syncope, Palpi... OMIM:170390
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Lower limb muscle weakness ORPHA:1177
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Lennox-Gastaut Syndrome
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Tachycardia ORPHA:324575
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Gitelman Syndrome
Prolonged QT interval, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Palpitations OMIM:263800
Rhizomelic Chondrodysplasia Punctata, Type 5
Contractures of the large joints, Sinus tachycardia, Skeletal muscle atrophy OMIM:616716
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy OMIM:618234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Seckel Syndrome 7
Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation... OMIM:614851
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Ataxia, Aggressive behavior OMIM:620270
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:602390
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,... ORPHA:3130
Stiff-Person Syndrome
Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Hypertension, Axial muscle stif... OMIM:184850
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve... ORPHA:49827
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Facial hypotonia, Bundle branch block, Abnormal cardiac sept... ORPHA:589821
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Short stature, Bone marrow hypocellularity, T... OMIM:619151
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog... ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia ORPHA:2928
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrop... ORPHA:329336
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Overriding aorta, Ventricular septal defect, Secon... OMIM:617021
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr... OMIM:310200
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Gliosis, Basal ganglia gliosis, Dystonia, Ataxia, Lateral ventricle dilatation... ORPHA:79243
Supranuclear Palsy, Progressive, 1
Bradykinesia, Irritability, Akinesia, Gait imbalance, Memory impairment, Falls, Axial dystonia, A... OMIM:601104
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Gliosis, Tremor, Gait disturbance, Motor stereotypy, Self-mutilation ORPHA:457240
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, A... OMIM:232500
Supranuclear Palsy, Progressive, 2
Bradykinesia, Irritability, Akinesia, Gait imbalance, Memory impairment, Falls, Axial dystonia, G... OMIM:609454
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Lower limb muscle weakness OMIM:619737
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Wild Type Abeta2M Amyloidosis