Gene Summary

Name:
ryanodine receptor 2, cardiac
Synonyms:
9330127I20Rik

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
preweaning lethality, complete penetrance Ryr2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased startle reflex Ryr2tm1b(KOMP)Wtsi HET   Early adult 7.84×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 50% (1 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

OPT E9.5

Embryo reconstruction

10 Images

Adult LacZ

LacZ Images Wholemount

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Echo

M-Mode Images

28 Images

Embryo LacZ

LacZ images wholemount

4 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Ryr2 mutations

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

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

The table below shows human diseases associated to Ryr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772

The table below shows human diseases predicted to be associated to Ryr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Ethanolaminosis
Cardiomegaly OMIM:227150
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Nathalie Syndrome
Arrhythmia ORPHA:2663
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:615006
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... OMIM:615369
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... ORPHA:725
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Familial Atrial Fibrillation
Palpitations, Atrial fibrillation, Syncope, Myocardial infarction ORPHA:334
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... OMIM:615400
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Scapuloperoneal amyotrophy, A... OMIM:613205
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Fatigable weakness of bulbar muscles, Congesti... ORPHA:98909
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... OMIM:620265
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... OMIM:617391
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... ORPHA:163721
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G... OMIM:266100
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:617389
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... ORPHA:98820
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Myocloni... OMIM:616187
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Seizure, Bradycardia, ... ORPHA:66529
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:254800
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Seizure, Sick sinus syndrome, Bradycardia, Prolonged P... ORPHA:542306
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w... ORPHA:2382
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure OMIM:619639
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Typical absence seizure, Gener... OMIM:607682
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Nathalie Syndrome
Abnormal EKG OMIM:255990
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, EEG abnormality, Seizure, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a... OMIM:617831
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:617904
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... ORPHA:139431
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon... OMIM:616409
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG with abno... ORPHA:599373
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... ORPHA:363549
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Symmetrical Thalamic Calcifications
EEG abnormality, Arrhythmia, Seizure ORPHA:1314
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... OMIM:617113
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... OMIM:261740
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... OMIM:602668
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s... OMIM:619605
Kerion Celsi
Lymphadenopathy ORPHA:499
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... OMIM:616139
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Landau-Kleffner Syndrome
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... ORPHA:98818
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Variegate Porphyria
Tachycardia OMIM:176200
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Seizure, Bilateral tonic-clonic seizure OMIM:608636
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure, Bradycardia OMIM:609924
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... OMIM:613855
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Intellectual Developmental Disorder, Autosomal Dominant 5
EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona... ORPHA:140927
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... OMIM:614702
Coenzyme Q10 Deficiency, Primary, 5