Gene Summary

Name:
zinc finger protein 541
Synonyms:
EG666528

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Zfp541em1(IMPC)J HOM   Early adult 1.64×10-05
prolonged RR interval Zfp541em1(IMPC)J HOM Early adult 2.44×10-06
male infertility Zfp541em1(IMPC)J HOM Early adult 0.00
abnormal heartbeat Zfp541em1(IMPC)J HOM   Early adult 8.72×10-05
increased circulating triglyceride level Zfp541em1(IMPC)J HOM Early adult 2.23×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Zfp541 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 Zfp541 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Congestive heart failure, Hypertension, Myocardial infarction, Oligospe... OMIM:615703
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction, Increased LDL cholesterol concentratio... OMIM:610947
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616516
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... ORPHA:101016
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Spermatogenic Failure 17
Male infertility OMIM:617214
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... OMIM:615745
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration OMIM:614025
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration ORPHA:140905
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
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
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration, Abnormal EKG OMIM:300376
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... OMIM:615184
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Hyperalaninemia, Bradycardia, Congestive heart failure OMIM:619048
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hypertriglyceridemia, Hypertension, Oligomenorrhea ORPHA:280356
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Arrhythmia OMIM:310095
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hypertension ORPHA:71529
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased total bilirubin, Hyperprolinemia, Bradycardia, Hypergl... OMIM:616299
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Illum Syndrome
Bradycardia, Calcinosis OMIM:208155
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy OMIM:618815
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction, Increased LDL cholesterol concentration, Decreased HDL chole... OMIM:618620
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension, Oligomenorrhea OMIM:613877
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated circulating creatine kinase concentration, Premature ventri... OMIM:212138
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Cardiomyopathy OMIM:610717
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hemochromatosis, Type 2A
Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, Increased circulating... OMIM:602390
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Increased C-peptide level, Hypertriglyceridemia, Hypertension OMIM:615238
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia OMIM:601005
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Bradycardia OMIM:614702
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Hypogonadism, Premature ovarian insufficiency, Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... ORPHA:217607
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Elevated circulating creatine kinase concentration, Palpitations, Second degree atrioven... OMIM:616812
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:607616
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Tetanus
Tachycardia, Bradycardia, Hypertension, Elevated circulating creatine kinase concentration ORPHA:3299
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Primary amenorrhea OMIM:612526
Glutamine Deficiency, Congenital
Hyperammonemia, Bradycardia, Hypoglutaminemia OMIM:610015
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperuricemia, Hypertension, Decreased HDL cholesterol concentration, Oligome... OMIM:604367
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction, Increased LDL cholesterol concentration, Hypercholesterolemi... OMIM:615812
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Elevated circulating c... ORPHA:98855
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Elevated circulating c... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Elevated circulating c... ORPHA:98853
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Tangier Disease
Myocardial infarction, Decreased HDL cholesterol concentration, Decreased circulating apolipoprot... OMIM:205400
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elevated circulating creatine kinase concentra... ORPHA:98863
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Hyperuricemia, Secondary amenorrhea, Hypertension, Congestive heart failure, ... ORPHA:79083
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypoplasia of the ovary, Hypergonadotropic ... ORPHA:66628
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:528
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation, Elevated circulating crea... OMIM:618775
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Prolonged QT interval, Hypertriglyceridemia, ... OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Bradycardia, Dilated cardiomyopathy OMIM:610768
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypoplasia of the ovary, Hypergonadotropic ... ORPHA:179494
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Palpitations, Tachycardia OMIM:188580
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... ORPHA:85451
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock, Hyponatremia ORPHA:391673
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... OMIM:145600
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Congestive heart failure, Hypertrophic cardiomyopathy, Dysmenorrhea, Hypert... ORPHA:2348
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hypertension ORPHA:363400
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Oligomenorrhea ORPHA:79085
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyce... ORPHA:567548
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Right bundle branch block, T-wave inversion, ... ORPHA:263297
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Hypertrophic car... ORPHA:276556
Sheehan Syndrome
Impotence, Hyponatremia, Decreased female libido, Decreased circulating cortisol level, Dyspareun... ORPHA:91355
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Bradycardia OMIM:220120
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Hypertriglyceridemia, Telangiectasia of the skin OMIM:615381
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Hypertension, El... ORPHA:94093
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hypertrophic cardiomyopathy, Transient hyperlipidemia, Arrhythmia ORPHA:156
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Bradycardia ORPHA:221098
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failu... ORPHA:280365
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia, Congestive heart failure ORPHA:90037
Dysbetalipoproteinemia
Hypercholesterolemia, Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cho... ORPHA:412
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... OMIM:171420
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Alstrom Syndrome
Irregular menstruation, Hyperuricemia, Hypertension, Congestive heart failure, Dilated cardiomyop... OMIM:203800
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Oligomenorrhea ORPHA:435651
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia, Oligome... ORPHA:435660
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... ORPHA:650
Spermatogenic Failure 77
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia OMIM:620103
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hypoalbuminemia, ... ORPHA:247585
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline OMIM:603471
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:90673
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Restrictive cardiomyopathy, Increased circulating ferritin concentration OMIM:619313
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy OMIM:600996
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia, Cardiomyopathy OMIM:232400
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... OMIM:267700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Sepsis In Premature Infants
Hypotension, Elevated circulating C-reactive protein concentration, Bradycardia, Tachycardia ORPHA:90051
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertension, Abnormal cardiovascular system physiology... ORPHA:79086
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Elevated circulating creatine kinase concentration,... ORPHA:370
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Elevated circulating crea... OMIM:615980
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Hypercholeste... ORPHA:90674
Myotonic Dystrophy 2
Right bundle branch block, Hypogonadism, Elevated circulating creatine kinase concentration, Prem... OMIM:602668
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia OMIM:614653
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Elevated circulating creatine kinase concentration,... ORPHA:264580
Encephalitis Lethargica
Bradycardia ORPHA:83600
Lujo Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating C-reactive protein concentra... ORPHA:319213
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia OMIM:617575
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Arrhythmia ORPHA:464453
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... ORPHA:99827
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Male infertility, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia ORPHA:2239
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tachycardia OMIM:613239
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Hypovolemia, Hypertension, Angina pectoris, Increased circul... ORPHA:90041
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... OMIM:615947
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gastrointestinal hemorrhage, Hype... ORPHA:35909
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Congestive heart failure, Mitral regurgitation, Hyperchole... ORPHA:363618
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Marburg Hemorrhagic Fever
Hypotension, Hypovolemia, Hypokalemia, Internal hemorrhage, Elevated circulating creatine kinase ... ORPHA:99826
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Abnormal circulating protein concentration, Tachycardia ORPHA:264675
Spermatogenic Failure 14
Male infertility, Azoospermia, Late spermatogenesis maturation arrest OMIM:615842
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating creatin... ORPHA:26793
H Syndrome
Facial telangiectasia, Hypogonadism, Azoospermia, Abnormal cardiovascular system physiology, Hype... ORPHA:168569
Primary Lipodystrophy
Hypertension, Congestive heart failure, Angina pectoris, Hyperlipidemia, Menometrorrhagia, Cardio... ORPHA:90970
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Seckel Syndrome 10
Hypertension, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure OMIM:617253
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Chylomicron Retention Disease
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea ORPHA:71
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Oligomenorrhea, Elevated circulating creatine kinase concentration, Hyper... ORPHA:79240
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:605373
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... ORPHA:542323
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Yellow Fever
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Hyperbilirubinemia, Inte... ORPHA:99829
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... OMIM:613426
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Hydroxykynureninuria
Hypotension, Abnormal circulating tryptophan concentration, Tachycardia ORPHA:79155
Familial Chylomicronemia Syndrome
Pulmonary embolism, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperl... ORPHA:444490
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia OMIM:618183
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Cardiomyopathy ORPHA:98907
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hyperlipidemia ORPHA:369
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia, Bradycardia OMIM:218700
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... OMIM:603553
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Hypertriglyceridemia, Elevated circulating creatine kinase concent... ORPHA:261476
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... OMIM:171300
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Hypercholesterolemia, Hyperuricemia, Hypertension, Epistaxis, Xanthelasma... ORPHA:79259
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hypercholesterolemia OMIM:151660
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Congenital Analbuminemia
Low pulse pressure, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:86816
Lysosomal Acid Lipase Deficiency
Hypotension, Pulmonary arterial hypertension, Hypercholesterolemia, Hypovolemia, Hyperkalemia, St... ORPHA:275761
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Renal Nutcracker Syndrome
Infertility, Syncope, Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Tachycardia ORPHA:71273
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... ORPHA:261529
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Elevated circulating creatine kinase concentration, Low-output congestive heart ... ORPHA:565612
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Gastrointestinal hemorrhage ORPHA:1414
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Abnormal circulating thyroglobulin level, Bradycardia ORPHA:226307
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Decreased plas... ORPHA:157
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Third degree atrioventricular block, Hypokalemia, Dilated cardio... OMIM:619573
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Hypertrophic cardiomyopathy, Elevated hemogl... OMIM:269700
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Hypertension, Congestive heart failure, Oligospermia, Male infertility, Decreased H... ORPHA:85450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Decreased plas... ORPHA:228308
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Restrictive cardiomyopathy, Hypercalcemia ORPHA:369837
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... ORPHA:137675
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Congestive heart failur... ORPHA:98908
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Hyperlipidemia, Arrhythmia ORPHA:254346
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... ORPHA:470
Chédiak-Higashi Syndrome
Epistaxis, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertrig... ORPHA:167
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased fertility, Irregular menstruation, Decreased circulating renin level, Hypokalemia, Decr... ORPHA:90793
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hypertriglyceridemia, Cardiomyopathy OMIM:608594
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Congestive heart failure, Decreased HDL cholesterol concentration, Elevat... OMIM:256040
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Hypertension, P... ORPHA:189427
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration ORPHA:79404
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Atypical Werner Syndrome
Decreased fertility, Hypogonadism, Secondary amenorrhea, Premature ovarian insufficiency, Hyperte... ORPHA:79474
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension, Hyper... OMIM:235400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Primary amenorrhea OMIM:619418
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Fabry Disease
Abnormal circulating lipid concentration, Mucosal telangiectasiae, Transient ischemic attack, Bun... ORPHA:324
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Heart murmur, Angina pectoris, Hypertension, Supravalvular aortic stenosis,... ORPHA:391665
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C... ORPHA:1830
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Mitral regurgitation, Elevated hemoglobin A1c, Tricuspid regurgitation OMIM:619127
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Woodhouse-Sakati Syndrome
Abnormal T-wave, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperlipidemia,... OMIM:241080
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Increased circulating cortisol level, Hypertension, Paradoxical increased... ORPHA:189439
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:115310
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Hypertension, Hypercholesterolemia, Orthostatic hypotension, Hyp... OMIM:606721
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
X-Linked Lymphoproliferative Disease
Hypertriglyceridemia, Myocarditis, Increased circulating ferritin concentration, Vasculitis ORPHA:2442
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Woodhouse-Sakati Syndrome
Abnormal T-wave, Abnormal spermatogenesis, Hypogonadism, Premature ovarian insufficiency, Hyperli... ORPHA:3464
Aromatase Deficiency