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Gene: Ryr2 MGI:99685

Gene Summary

Name:

ryanodine receptor 2, cardiac

Synonyms:

9330127I20Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased startle reflex		Ryr2^{tm1b(KOMP)Wtsi}	HET		Early adult	7.84×10^-06
preweaning lethality, complete penetrance		Ryr2^{tm1b(KOMP)Wtsi}	HOM		Early adult	0.00

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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	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	50% (1 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 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)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 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)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	100% (2 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.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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OPT E9.5

Embryo reconstruction

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Echo

M-Mode Images

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

17 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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Auditory Brain Stem Response

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

4 Images

View 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.

Human diseases associated with Ryr2 (3 diseases)
Human diseases predicted to be associated with Ryr2 (1674 diseases)

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

Disease	Matching phenotypes	Source
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772

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

Disease	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	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	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	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Atrial Fibrillation, Familial, 15	Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde...	OMIM:615770
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd...	OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v...	OMIM:608751
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype...	OMIM:619402
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:619964
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Atrial fibri...	OMIM:620734
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Epilepsy, Familial Temporal Lobe, 5	EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw...	OMIM:614417
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation	OMIM:615377
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass...	ORPHA:263297
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Enhanceme...	OMIM:615127
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Fibrillation, Familial, 8	Atrial fibrillation	OMIM:613055
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg...	OMIM:620236
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617072
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo...	OMIM:613608
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera...	OMIM:615006
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen...	OMIM:254770
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,...	ORPHA:75566
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit...	OMIM:310300
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure	ORPHA:22
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric...	OMIM:115195
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Developmental And Epileptic Encephalopathy 104	Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate...	OMIM:619970
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit...	OMIM:117100
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Danon Disease	Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon...	OMIM:300257
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,...	ORPHA:725
Tako-Tsubo Cardiomyopathy	Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Palpitations, B...	ORPHA:66529
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Familial Atrial Fibrillation	Atrial fibrillation, Syncope, Palpitations, 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
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:616056
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613722
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Interictal...	OMIM:615400
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure	OMIM:614115
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy	ORPHA:79281
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se...	OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Fatigab...	ORPHA:98909
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,...	OMIM:245570
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre...	OMIM:212138
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation...	OMIM:613205
Brugada Syndrome 4	Atrial fibrillation, Syncope, Shortened QT interval	OMIM:611876
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Developmental And Epileptic Encephalopathy 11	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure	OMIM:613721
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Muscular Dystrophy, Becker Type	Arrhythmia, Cardiomyopathy, Abnormal EKG	OMIM:300376
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor...	OMIM:617391
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Seizu...	ORPHA:163721
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar...	OMIM:617389
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur...	ORPHA:98820
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid...	ORPHA:139426
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy	OMIM:212130
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Bilateral tonic-cloni...	OMIM:616187
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo...	OMIM:607631
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys...	OMIM:254800
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:607681
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Left ventricular hypertroph...	OMIM:619048
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Seizure, Ventricular escape rhythm, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick sinus syndrome,...	ORPHA:542306
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic...	OMIM:266100
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Developmental And Epileptic Encephalopathy 31A	Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure...	OMIM:616346
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia	OMIM:616276
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Short stature, Bilateral tonic-clonic seizure	OMIM:619639
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Dravet Syndrome	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta...	OMIM:607208
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611364
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Cardiomyopathy, Dilated, 3B	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:302045
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, EEG abnormality, Bradycardia	OMIM:618815
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca...	OMIM:607745
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Epilepsy With Eyelid Myoclonia	Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei...	ORPHA:139431
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas...	OMIM:619000
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizure, Bilateral ...	OMIM:608105
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:610003
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy, Complex febrile seizure, Seizure precipitated by febrile infection, Sta...	ORPHA:363549
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t...	OMIM:616409
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617171
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs...	OMIM:261740
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired awareness sei...	ORPHA:599373
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Developmental And Epileptic Encephalopathy 59	Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei...	OMIM:617904
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Symmetrical Thalamic Calcifications	Arrhythmia, EEG abnormality, Seizure	ORPHA:1314
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of...	ORPHA:90064
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Lennox-Gastaut Syndrome	EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG a...	ORPHA:2382
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul...	OMIM:602668
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei...	ORPHA:101071
Developmental And Epileptic Encephalopathy 98	EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Clonic seizure, B...	OMIM:619605
Kerion Celsi	Lymphadenopathy	ORPHA:499
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure	OMIM:616341
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atonic seizu...	OMIM:617113
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Supraventricular tachycardia, Hi...	ORPHA:423
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Developmental And Epileptic Encephalopathy 27	Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Hypsarrhythmia, Bilater...	OMIM:616139
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Absence seizure with...	OMIM:618587
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy...	OMIM:540000
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure	OMIM:162350
Leber Hereditary Optic Neuropathy	Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu...	OMIM:616501
Landau-Kleffner Syndrome	EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz...	ORPHA:98818
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,...	OMIM:618141
Barth Syndrome	Abnormal mitochondrial morphology, Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio...	OMIM:181350
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia	OMIM:618453
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Chromosome 15Q11-Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, EEG abnormality, Seizure	OMIM:608636
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Episodic Ataxia, Type 9	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus	OMIM:618924
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:618873
Variegate Porphyria	Tachycardia	OMIM:176200
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy	OMIM:609016
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Developmental And Epileptic Encephalopathy 34	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s...	OMIM:616645
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy	OMIM:609500
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG with ...	OMIM:613855
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype...	ORPHA:75249
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:611726
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Decreased activity of mitochondrial complex I, Decreased activity...	OMIM:615917
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure...	ORPHA:3093
Epilepsy, Progressive Myoclonic, 9	Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc...	OMIM:616540
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:300388
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Seizure, Bradycardia	OMIM:609924
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila...	OMIM:605021
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l...	OMIM:619566
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, 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
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Epilepsy, Progressive Myoclonic, 6	Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus...	OMIM:614018
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to...	OMIM:204300
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype...	OMIM:614096
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure	OMIM:617709
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality, Seizure	OMIM:612621
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Typical absence seizure, Intrauterine growth retardation, Myoclonus, Focal hem...	OMIM:620145
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia	OMIM:618235
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Benign Familial Neonatal-Infantile Seizures	Continuous spike and waves during slow sleep, Neonatal seizure, Focal clonic seizure, Tonic seizu...	ORPHA:140927
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Supravalvular aortic stenosis, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilate...	OMIM:615859
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu...	OMIM:619157
Myoclonic Epilepsy Of Infancy	EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) seizure,...	ORPHA:86909
Developmental And Epileptic Encephalopathy 101	Myoclonus, Third degree atrioventricular block, Seizure, Bradycardia	OMIM:619814
Monosodium Glutamate Sensitivity	Palpitations	OMIM:231630
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion, ...	OMIM:614702
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Developmental Delay With Or Without Epilepsy	EEG with frontal focal spikes, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizur...	OMIM:620540
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb...	OMIM:617935
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o...	ORPHA:26793
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia	OMIM:614654
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Seizure, Atonic seizure	OMIM:309530
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Developmental And Epileptic Encephalopathy 52	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,...	OMIM:617350
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611615
Cirrhotic Cardiomyopathy	Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p...	ORPHA:57777
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Cardiomyopathy	ORPHA:63273
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-cloni...	OMIM:617711
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, E...	OMIM:609446
Dk1-Cdg	Dilated cardiomyopathy, Seizure, Congestive heart failure, Infantile spasms, Arrhythmia, Hypsarrh...	ORPHA:91131
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Congenital Disorder Of Glycosylation, Type Iaa	Intrauterine growth retardation, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617082
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Premature ventricular contr...	OMIM:620504
Developmental And Epileptic Encephalopathy 42	Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, EEG abnormality, Focal tonic sei...	OMIM:617106
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, EEG with burst suppression, Focal-onset seizure, Myoclonic spasms,...	OMIM:614498
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc...	ORPHA:79137
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Propionic Acidemia	Arrhythmia, Cardiomyopathy	ORPHA:35
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Unilateral Focal Polymicrogyria	EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral...	ORPHA:268947
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Arrhythmia	ORPHA:99944
Illum Syndrome	Arthrogryposis multiplex congenita, Calcinosis, Bradycardia	OMIM:208155
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Generalized Epilepsy With Febrile Seizures-Plus	Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi...	ORPHA:36387
Familial Isolated Dilated Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:154
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Combined Oxidative Phosphorylation Defect Type 23	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left v...	ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to th...	OMIM:618228
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Fatigable weakness of distal limb muscles, Abnormal left ventricular function, Cardiomyopathy, He...	ORPHA:98912
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Small for gestational age, Flexion contracture	OMIM:616733
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Focal impaired awareness seizure, Seizure, Delayed menarche, Focal-onset seizure, Bilateral tonic...	ORPHA:330050
Congenital Myopathy 24	First degree atrioventricular block, Cardiomyopathy	OMIM:617336
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Myoclonus, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure	OMIM:616230
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Generalized-onset seizu...	OMIM:617976
Dystonia 23	Arrhythmia	OMIM:614860
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Seizure, Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fi...	OMIM:616878
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ...	OMIM:619317
Yoon-Bellen Neurodevelopmental Syndrome	Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Generalized myoclonic-atonic se...	OMIM:619701
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Failure to thrive	OMIM:616974
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Rhabdomyolysis	OMIM:188580
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers, Left ven...	OMIM:615418
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton...	OMIM:618856
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure	OMIM:104290
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl...	ORPHA:293181
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Noonan Syndrome 8	Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Mitral regurgitation, ...	OMIM:615355
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo...	OMIM:609286
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Mitral valve prolapse	OMIM:616166
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia	ORPHA:159
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Myopathy, Distal, 4	Cardiomyopathy	OMIM:614065
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (absence) ...	OMIM:619913
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca...	OMIM:613870
Epilepsy, Familial Adult Myoclonic, 2	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:607876
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure	ORPHA:208441
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Salt And Pepper Developmental Regression Syndrome	Multifocal epileptiform discharges, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:609056
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:300280
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy	OMIM:610100
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
Developmental And Epileptic Encephalopathy 106	Postnatal growth retardation, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral to...	OMIM:620028
Myotonic Dystrophy 1	Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Atrial flutter	OMIM:160900
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Idiopathic Congenital Hypothyroidism	Macroglossia, Bradycardia	ORPHA:95717
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276556
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy	ORPHA:868
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Continuous spike...	ORPHA:1929
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Seizure	OMIM:615362
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Epilepsy, Progressive Myoclonic, 12	Myoclonus, Bilateral tonic-clonic seizure	OMIM:619191
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Cardiomyopathy, Portal hypertension, Bradycardia, Flexion contracture, A...	OMIM:232500
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ...	ORPHA:1329
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Mitochondrial Complex I Deficiency, Nuclear Type 15	Intrauterine growth retardation, Bilateral tonic-clonic seizure, Neonatal death	OMIM:618237
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular...	OMIM:619167
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori...	ORPHA:398124
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Bilateral Generalized Polymicrogyria	Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas...	ORPHA:208447
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:226750
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-o...	OMIM:615476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Macroglo...	OMIM:613156
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Brain Small Vessel Disease 2	Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Spinocerebellar Ataxia, Autosomal Recessive 12	EEG abnormality, Bilateral tonic-clonic seizure	OMIM:614322
Developmental Delay And Seizures With Or Without Movement Abnormalities	EEG abnormality, Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic...	OMIM:617836
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98855
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276575
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Short stature, Bilateral tonic-clonic seizure	OMIM:617862
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619301
Hemochromatosis, Type 2A	Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:602390
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, EEG with focal slow activity, Multifocal epileptiform discharges,...	ORPHA:209370
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Seizure, Pulmonary arterial hypertension, EEG abnormality, ...	OMIM:617021
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot...	OMIM:619338
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Bilateral tonic-clonic s...	OMIM:617290
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure	ORPHA:329329
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Myoclonus, Seizure, Concentric hypertrophic cardiomyopathy	OMIM:204200
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276580
Lissencephaly 3	Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure	OMIM:611603
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG abnormality,...	OMIM:271980
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Myoclonus, Bilateral tonic-clonic seizure	OMIM:619065
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Tonic seizure, Bilateral tonic-clonic sei...	OMIM:618497
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Guanidinoacetate Methyltransferase Deficiency	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp...	ORPHA:382
Peho-Like Syndrome	Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617507
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension, Rhabdomyolysis	OMIM:145600
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Focal impaired awareness seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Statu...	OMIM:613970
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619302
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Cardiomyopathy	OMIM:606842
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Rolandic Epilepsy	EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave...	ORPHA:1945
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane...	OMIM:603552
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98853
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to...	OMIM:619881
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Bacterial endo...	ORPHA:97214
Familial Infantile Myoclonic Epilepsy	Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, Bilateral tonic-clonic ...	ORPHA:352582
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,...	ORPHA:99094
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera...	ORPHA:289266
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Abnormal m...	OMIM:618378
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm...	OMIM:618012
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Failure to thrive, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR inte...	ORPHA:308552
Mitochondrial Complex I Deficiency, Nuclear Type 12	Bilateral tonic-clonic seizure, Myoclonus, Generalized myoclonic seizure, Seizure	OMIM:301020
Glycosylphosphatidylinositol Biosynthesis Defect 15	Myoclonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Bilateral tonic-clon...	OMIM:617810
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo...	ORPHA:363558
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure	OMIM:616981
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu...	ORPHA:368
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Seizure	OMIM:620317
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
D-Glyceric Aciduria	Seizure, Focal clonic seizure, Myoclonus, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bradyca...	OMIM:220120
Developmental And Epileptic Encephalopathy 47	Focal-onset seizure, Tonic seizure, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizu...	OMIM:617166
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Erythrokeratodermia Variabilis Et Progressiva 6	Arrhythmia	OMIM:618531
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis, Muscle fiber necros...	ORPHA:449285
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slow activity, Abnormal...	ORPHA:168491
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Developmental And Epileptic Encephalopathy 90	EEG with burst suppression, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, ...	OMIM:301058
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Limb-girdle mus...	ORPHA:98863
Developmental And Epileptic Encephalopathy 41	Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali...	OMIM:617105
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Distal Myotilinopathy	Cardiomyopathy	ORPHA:98911
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Myoclonic seizure, Cardiomyopathy, Seizure, Infantile spasms, Tonic seizure...	OMIM:600721
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Bilateral tonic-clonic seizure, Intrauterine growth retardation, Growth delay, Seizure	ORPHA:488635
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest	OMIM:617713
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Bilateral tonic-clonic seizure	OMIM:618425
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ...	OMIM:619616
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Arrhythmia	ORPHA:2928
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Friedreich Ataxia	Decreased amplitude of sensory action potentials, Abnormal EKG, Hypertrophic cardiomyopathy, Cong...	OMIM:229300
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Sarcosinemia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Bilateral tonic-clonic seizure	ORPHA:3129
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome	OMIM:618234
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Tangier Disease	Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Myo...	OMIM:205400
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy	OMIM:610140
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,...	ORPHA:79102
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618470
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Atrial fibrillation	OMIM:300842
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Generalized-onset seizure, EEG abnormality, Seizure, Bilateral tonic-clonic seizure	OMIM:604317
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Focal myoclonic seizure, Seizure, Pulmonary arte...	ORPHA:369929
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:608099
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Congenital Fibrinogen Deficiency	Internal hemorrhage, Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:335
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ...	ORPHA:169186
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im...	OMIM:619428
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure	ORPHA:250972
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	EEG abnormality, Convulsive status epilepticus, Focal-onset seizure	OMIM:618760
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten...	ORPHA:251274
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Hypsarrhythmia, Seizure, Bradycardia	OMIM:610768
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Glutamine Deficiency, Congenital	Camptodactyly, Flexion contracture, Bradycardia	OMIM:610015
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Cardiomyopathy, Familial Restrictive, 6	Tricuspid regurgitation, Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis	OMIM:619433
Combined Oxidative Phosphorylation Defect Type 39	Seizure, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Bradycardia	ORPHA:565624
Developmental And Epileptic Encephalopathy 66	Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,...	OMIM:618067
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Cardiomyopathy	OMIM:608807
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Obesity, Hypomimic face	ORPHA:93952
Juvenile Neuronal Ceroid Lipofuscinosis	Seizure, Interictal EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic spasms, Tachycardia	ORPHA:79264
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Failure to thrive in infancy, Tricuspid regurgitation, ...	ORPHA:746
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Kearns-Sayre Syndrome	Arrhythmia, Seizure, Third degree atrioventricular block, Cardiomyopathy	OMIM:530000
Developmental And Epileptic Encephalopathy 4	Generalized myoclonic seizure, Epileptic spasm, EEG with burst suppression, Generalized tonic sei...	OMIM:612164
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Cardiomyopathy	OMIM:615119
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Scapular winging, Prol...	OMIM:170390
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Developmental And Epileptic Encephalopathy 79	Migrating focal seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure with generali...	OMIM:618559
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce...	ORPHA:980
Myopathy, X-Linked, With Postural Muscle Atrophy	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:300696
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio...	OMIM:300853
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Cerebral Creatine Deficiency Syndrome 2	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Bilateral toni...	OMIM:612736
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations	ORPHA:324575
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Decreased amplitude of sensory action potentials, Congestive heart f...	ORPHA:85446
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen...	ORPHA:358
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia	OMIM:616516
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Ventricular septal hypertro...	OMIM:301500
Cantu Syndrome	Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti...	OMIM:239850
Stiff-Person Syndrome	Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Hypertension, Axia...	OMIM:184850
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal...	ORPHA:457205
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:618090
Gitelman Syndrome	Hypotension, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval	OMIM:263800
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:255160
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Foxg1 Syndrome	Infantile spasms, Myoclonus, Severe postnatal growth retardation, Bilateral tonic-clonic seizure,...	ORPHA:561854
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ...	ORPHA:555874
Clcn4-Related X-Linked Intellectual Disability Syndrome	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur...	ORPHA:485350
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Rett Syndrome	Prolonged QTc interval, EEG abnormality, Seizure, Abnormal T-wave	OMIM:312750
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Clonic seizure, Bil...	OMIM:618917
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemic seizures, Focal impaired awareness seizure, Seizure, Abnormal EKG, Infantile spasms,...	ORPHA:480864
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Failure to thrive in infancy, Pulmonary arterial hypertension	OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Status epilepticus, Seizure, Bradycardia	OMIM:619272
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Typical absence seizure, Bilateral tonic-clonic seizure	OMIM:620688
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei...	OMIM:617600
Developmental And Epileptic Encephalopathy 28	Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali...	OMIM:616211
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Mild short stature, Bilat...	OMIM:620292
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left...	ORPHA:254892
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ...	ORPHA:70
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Hyperekplexia 3	Syncope, Myoclonus, Bilateral tonic-clonic seizure	OMIM:614618
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula...	OMIM:300855
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Congestive heart failure	ORPHA:157973
Mahvash Disease	Palpitations	OMIM:619290
Hec Syndrome	Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia	OMIM:617397
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Lower limb muscle weakness	OMIM:619737
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Cardiomyopathy	OMIM:609308
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy	ORPHA:1369
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Macroglossia, Bradycardia	ORPHA:226313
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypertension, Failure to thrive	ORPHA:320
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Truncus art...	ORPHA:3426
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Neurodevelopmental Disorder With Involuntary Movements	Multifocal epileptiform discharges, Infantile spasms, Focal impaired awareness seizure, Bilateral...	OMIM:617493
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:269920
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Fatigable weakness of respiratory muscles, Cardiomyopathy	ORPHA:329336
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Myopathy, Distal, 7, Adult-Onset, X-Linked	Myofiber disarray, Cardiomyopathy	OMIM:301075
Familial Thyroid Dyshormonogenesis	Macroglossia, Bradycardia	ORPHA:95716
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Alpers-Huttenlocher Syndrome	Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:726
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy	OMIM:615352
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a...	OMIM:164310
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Carnitine Deficiency, Systemic Primary	Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocar...	OMIM:212140
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Hemochromatosis, Type 4	Arrhythmia, Cardiomyopathy	OMIM:606069
Distal Nebulin Myopathy	Cardiomyopathy	ORPHA:399103
Orthostatic Hypotension 1	Atrial fibrillation, Orthostatic hypotension, Weakness of facial musculature	OMIM:223360
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Seizure	ORPHA:2151
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Bilateral tonic-clonic seizure	OMIM:615031
Hemochromatosis, Type 2B	Cardiomyopathy, Congestive heart failure	OMIM:613313
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ...	OMIM:619854
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bilateral toni...	OMIM:619983
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur...	OMIM:620609
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile...	OMIM:610539
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	OMIM:618010
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Dilated cardiomyopathy, Reduced systolic function	OMIM:616827
Autosomal Dominant Spastic Paraplegia Type 6	Bilateral tonic-clonic seizure	ORPHA:100988
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef...	OMIM:620067
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:616281
Hereditary Coproporphyria	Tachycardia, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs	ORPHA:79273
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral regurgitat...	ORPHA:230851
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect	OMIM:249270
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Nocturnal seizures, Bilate...	ORPHA:98784
Necrotizing Enterocolitis	Shock, Hypotension, Abnormal heart morphology, Bradycardia	ORPHA:391673
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Pulmonary arterial hypertension, At...	OMIM:602535
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp...	OMIM:614653
16P12.1P12.3 Triplication Syndrome	Abnormal heart morphology, Tachycardia, Abnormal tricuspid valve morphology, Atrial septal defect	ORPHA:485405
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension	ORPHA:525731
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Severe Canavan Disease	Bilateral tonic-clonic seizure, Seizure	ORPHA:314911
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Biventricular hypertrophy	OMIM:618236
Developmental And Epileptic Encephalopathy 61	Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:617933
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Myopathy, Myofibrillar, 3	Cardiomyopathy	OMIM:609200
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615637
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Absent pubertal growth spurt, Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, S...	ORPHA:464282
Gne Myopathy	Cardiomyopathy	ORPHA:602
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testi...	ORPHA:54251
Dystonia 22, Juvenile-Onset	Bilateral tonic-clonic seizure	OMIM:620453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Generalized-onset seizure, EEG with generalized epileptiform discharges, Seizure, Bilateral tonic...	OMIM:619827
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Myopathy, Myofibrillar, 4	Cardiomyopathy	OMIM:609452
Aicardi-Goutieres Syndrome 9	Failure to thrive, Lower limb hypertonia, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, ...	OMIM:619487
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy	OMIM:613752
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia, EEG abnormality	OMIM:273400
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Status epilepticus, Seizure, EEG abnormality	ORPHA:529665
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure	ORPHA:53583
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Intellectual Developmental Disorder, X-Linked 30	Short stature, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:300558
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Myoclonic seizure, Growth delay, Seizure	OMIM:615716
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Bilateral tonic-...	ORPHA:98795
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure	OMIM:619877
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614559
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit...	OMIM:619698
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins...	OMIM:619705
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure	OMIM:203740
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth	OMIM:617468
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Seizure	OMIM:300423
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr...	OMIM:265400
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly, Failure to thrive in infancy	ORPHA:858
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:300607
Sandhoff Disease, Infantile Form	Myoclonic seizure, Seizure, Myoclonus, Mitral regurgitation, Bilateral tonic-clonic seizure	ORPHA:309155
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy	OMIM:608540
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Cachexia, Arrhythmia, Distal arthrogryposis, Hep...	ORPHA:42
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Duchenne Muscular Dystrophy	Cardiomyopathy	ORPHA:98896
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	EEG with generalized epileptiform discharges, Seizure, EEG abnormality, Bilateral tonic-clonic se...	ORPHA:488613
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia	OMIM:266500
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	EEG abnormality, Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:313772
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis	ORPHA:228410
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Cardiomyopathy	OMIM:619003
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy	ORPHA:26792
Alpha-B Crystallin-Related Late-Onset Myopathy	Cardiomyopathy	ORPHA:399058
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia	ORPHA:168593
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 months t...	OMIM:620208
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M...	OMIM:616564
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes...	ORPHA:64280
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Arrhythmia, Achalasia, Myocarditis	ORPHA:3386
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Bilateral tonic-clonic seizure	OMIM:618120
Double Outlet Left Ventricle	Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri...	ORPHA:3427
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,...	OMIM:235200
Alfadhel Syndrome	Short stature, Seizure, Bilateral tonic-clonic seizure	OMIM:620655
Fabry Disease	Atrioventricular block, Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle br...	ORPHA:324
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem...	ORPHA:83469
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Cardiomyopathy	OMIM:613155
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Amyloidosis, Finnish Type	Cardiac amyloidosis, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy	OMIM:105120
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Hypertension	ORPHA:371428
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction	ORPHA:54057
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Lafora Disease	Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ...	ORPHA:501
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia	OMIM:611773
Nephronophthisis 16	Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy	OMIM:615382
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Tularemia	Tachycardia	ORPHA:3392
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Leishmaniasis	Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Lymphadenop...	ORPHA:507
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Seizure, Tricuspid regurgitation, Mitral regurgitation, Bila...	OMIM:620300
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy	OMIM:232400
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:618499
Lissencephaly 9 With Complex Brainstem Malformation	Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Foca...	OMIM:618325
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Failure to thrive, Lower limb muscle weakness, Hypertrophic cardiomyopa...	ORPHA:365
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, EEG with generalized sharp slow waves, EEG with focal sharp waves, Infantile spasms, Hyp...	ORPHA:79243
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei...	OMIM:618170
Canavan Disease	Multifocal epileptiform discharges, Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure	OMIM:271900
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Status epilepticus, Seizure, Atypical absence status ep...	ORPHA:90068
Sengers Syndrome	Hypertrophic cardiomyopathy, Cardiac arrest, Pulmonary arterial hypertension, Sudden cardiac death	OMIM:212350
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Myocardial infarction, Seizure	ORPHA:457240
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Abnormality of visual evoked potentials	ORPHA:96
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, H...	ORPHA:99931
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce...	ORPHA:3287
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Sulfite Oxidase Deficiency, Isolated	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure	OMIM:272300
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Seizure, Interictal EEG abnormality, Infantile spasms, Bilateral tonic-clonic seizure, EEG with g...	ORPHA:544503
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms	ORPHA:94090
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Spastic Ataxia 5, Autosomal Recessive	Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:614487
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Congenital Sialidosis Type 2	Telangiectasia, Myoclonus, Seizure, Abnormal EKG	ORPHA:93400
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Bradycardia	ORPHA:90673
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation, Seizure	ORPHA:94125
Typhoid	Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis	ORPHA:99745
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa...	OMIM:614034
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bilateral tonic-clonic seizure, Focal motor seizure, Seizure	OMIM:619911
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ...	ORPHA:1332
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:603909
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure	OMIM:618093
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve...	OMIM:142900
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt	OMIM:620510
Carney Triad	Gastrointestinal hemorrhage, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertension	ORPHA:139411
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Arthrogryposis...	OMIM:618397
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Cardiomyopathy	ORPHA:93476
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Polyarteritis Nodosa	Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis	ORPHA:767
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Marfan Syndrome	Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Mitral regurgitation, Mi...	ORPHA:558
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension, Rhabdomyolysis	ORPHA:43116
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Small for gestational age, Pu...	OMIM:619148
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Sepsis In Premature Infants	Hypotension, Splenomegaly, Decreased body weight, Bradycardia, Hepatomegaly, Tachycardia, Small f...	ORPHA:90051
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Al Amyloidosis	Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy...	ORPHA:85443
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Mitral regurgitation, Cardiomyopathy	OMIM:212112
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Thyroid Lymphoma	Lymphadenopathy, Goiter	ORPHA:97285
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Seizure	OMIM:615351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy	OMIM:610131
Infantile Refsum Disease	Arrhythmia, Cardiomyopathy	ORPHA:772
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Left ventricular hypertrophy, Camptodactyly	OMIM:611209
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta...	ORPHA:94093
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Ventricular fibrillation, Hypertension, Seizure	OMIM:270400
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Abnor...	ORPHA:1194
Behavioral Variant Of Frontotemporal Dementia	EEG with continuous slow activity, Bilateral tonic-clonic seizure	ORPHA:275864
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom...	OMIM:201475
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia	ORPHA:230839
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Atrial flutter, Atrial septal defect, Ventricular septal defect	OMIM:601927
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:256550
Familial Isolated Hypoparathyroidism	Arrhythmia	ORPHA:2238
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Intellectual Developmental Disorder, Autosomal Dominant 42	Focal hemiclonic seizure, Hypsarrhythmia, EEG with generalized epileptiform discharges, Generaliz...	OMIM:616973
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Molybdenum Cofactor Deficiency, Type C	Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Neonata...	OMIM:615501
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy	OMIM:615084
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication	OMIM:259900
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Lujo Hemorrhagic Fever	Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage	ORPHA:319213
Mucopolysaccharidosis Type 3	Reduced left ventricular ejection fraction, Atrioventricular block, Seizure, Fatigable weakness o...	ORPHA:581
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Leber Optic Atrophy	Arrhythmia	OMIM:535000
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Myopathy, Myofibrillar, 6	Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Mitral regurgitation	OMIM:612954
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation	OMIM:617168
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Bilateral tonic-clonic seizure	ORPHA:369840
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Familial Multiple Nevi Flammei	Arrhythmia, Pulmonary embolism, Intracranial hemorrhage	ORPHA:624
Spinocerebellar Ataxia With Epilepsy	EEG with occipital epileptiform discharges, Myoclonus, Bilateral tonic-clonic seizure with focal ...	ORPHA:254881
Pitt-Hopkins-Like Syndrome 1	Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, E...	OMIM:610042
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi...	OMIM:232300
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy	ORPHA:119
Singleton-Merten Syndrome 2	Aortic valve stenosis, Arrhythmia	OMIM:616298
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Seizure, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest	OMIM:277400
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:618354
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal...	ORPHA:465508
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Dihydrolipoamide Dehydrogenase Deficiency	Hypertrophic cardiomyopathy	OMIM:246900
Pyruvate Dehydrogenase E3 Deficiency	Abnormal cardiac ventricular function, Cardiomyopathy	ORPHA:2394
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Bilateral tonic-clonic seizure	ORPHA:79350
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Porphyria Variegata	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension	ORPHA:79473
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG	ORPHA:230
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Dilated cardiomyopathy, Skeletal muscle atrophy, Distal amyotro...	ORPHA:273
Vici Syndrome	Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Myopathy, Le...	OMIM:242840
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Bohring-Opitz Syndrome	Congenital contracture, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septum morpholog...	ORPHA:97297
Alg1-Cdg	Abnormal heart morphology, Cardiomyopathy	ORPHA:79327
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Myoclonus, Nocturnal seizures, Bilateral tonic-clonic seizure	OMIM:619725
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Small for gestational age	OMIM:613320
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy	ORPHA:352447
Bone Marrow Failure Syndrome 5	Short stature, Growth delay, Bilateral tonic-clonic seizure	OMIM:618165
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Neck muscle hypertrophy, Supraventricular arrhythmia	ORPHA:420492
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Arrhythmia, Cardiomyopathy	ORPHA:228305
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale	ORPHA:88630
Bardet-Biedl Syndrome 1	Obesity, Left ventricular hypertrophy, Truncal obesity, Abdominal obesity, Hypertension	OMIM:209900
Crimean-Congo Hemorrhagic Fever	Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival...	ORPHA:99827
Early Infantile Epileptic Encephalopathy	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:1934
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abn...	ORPHA:505248
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, EEG with frontal sharp slow w...	ORPHA:457351
Dextrocardia	T-wave inversion, Abnormal EKG	ORPHA:1666
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Restrictive cardiomyopathy, Seizure, Generalized non-motor (absence) seizure, ...	OMIM:615398
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture, Small ...	OMIM:616897
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function	ORPHA:229
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Renal Nutcracker Syndrome	Tachycardia, Syncope, Orthostatic hypotension	ORPHA:71273
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Myop...	ORPHA:280365
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Lissencephaly Due To Tuba1A Mutation	Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:171680
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Mild short stature, Seizure	OMIM:169400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure	ORPHA:70472
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy	OMIM:613561
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Combined Oxidative Phosphorylation Deficiency 27	Multifocal epileptiform discharges, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:616672
Isolated Thyroid-Stimulating Hormone Deficiency	Macroglossia, Bradycardia	ORPHA:90674
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Intrauterine growth retardation, Bilate...	ORPHA:79351
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Failure to thrive, Tricuspid regurgitation, Slender build, Abnormal left ventricle morphology, Pa...	ORPHA:466791
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia	ORPHA:3201
Systemic Capillary Leak Syndrome	Myocarditis, Hypotension, Arrhythmia, Pericarditis	ORPHA:188
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy	OMIM:620326
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
X-Linked Intellectual Disability Due To Gria3 Mutations	Seizure, Myoclonus, Bilateral tonic-clonic seizure, Short stature, Status epilepticus	ORPHA:364028
Congenital Insensitivity To Pain With Severe Intellectual Disability	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure	ORPHA:453510
Graft Versus Host Disease	Myositis, Tachycardia, Skeletal muscle atrophy, Dupuytren contracture	ORPHA:39812
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Friedreich Ataxia 2	Congestive heart failure, Abnormality of peripheral nerve conduction, Abnormal EKG, Concentric hy...	OMIM:601992
Developmental And Epileptic Encephalopathy 49	Myoclonic seizure, Myoclonus, Tonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Clo...	OMIM:617281
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:608358
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Bacterial Toxic-Shock Syndrome	Hypotension, Shock, Myositis, Myocarditis, Tachycardia, Capillary leak	ORPHA:36234
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Telangiectasia of the skin, Hypertrophic cardiomyopathy	ORPHA:79279
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia	ORPHA:57
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Myoclonic seizure, Seizure, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:254913
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Seizure, Cardiac conduction abnormality, Arrhythmia, Bilateral t...	ORPHA:2131
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries	ORPHA:2969
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Cardiac arrest, Left ventricular noncompaction cardiomyopathy	OMIM:620167
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy	OMIM:616549
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Cholera	Tachycardia, Hypotension, Hypovolemic shock	ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology	OMIM:618250
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Hydrops Fetalis	Arrhythmia, Capillary leak	ORPHA:1041
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Autosomal Recessive Progressive External Ophthalmoplegia	Cardiomyopathy	ORPHA:254886
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia	ORPHA:3191
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Atrial septal defect, Supraventricular tachycardia with an accessory con...	ORPHA:404443
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Myopathy, Myofibrillar, 2	Hypertrophic cardiomyopathy	OMIM:608810
Chromosome 22Q13 Duplication Syndrome	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:615538
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:620070
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Right ventricular fail...	ORPHA:99125
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ...	ORPHA:797
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy	ORPHA:1215
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Cntnap2-Related Developmental And Epileptic Encephalopathy	EEG with generalized epileptiform discharges, Seizure, Focal-onset seizure, EEG with generalized ...	ORPHA:163681
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy	ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy	OMIM:619386
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Bilateral tonic-clonic seizure	ORPHA:199354
Melas	Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card...	ORPHA:550
Childhood-Onset Nemaline Myopathy	Cardiomyopathy	ORPHA:171439
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy	OMIM:619046
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ...	OMIM:300967
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Intrauterine growth retardation, Bilateral tonic-clonic seizure	ORPHA:423479
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis	OMIM:611553
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Angina...	ORPHA:565612
Fucosidosis	Cardiomegaly, Hepatomegaly, Failure to thrive, Decreased muscle mass	ORPHA:349
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Hepatorenocardiac Degenerative Fibrosis	Hypertrophic cardiomyopathy, Portal hypertension	OMIM:619902
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra...	ORPHA:158687
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure	OMIM:619259
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy	ORPHA:369
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Heart block	OMIM:617063
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia	ORPHA:171876
Acute Intermittent Porphyria	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension, Proximal muscle weakness in l...	ORPHA:79276
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy	ORPHA:27
Nivelon-Nivelon-Mabille Syndrome	Severe short stature, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Telangiecta...	ORPHA:247262
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Seizure	OMIM:600430
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy, Congestive heart failure	OMIM:616866
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Myoclonic seizure, Epileptic spasm, Tonic seizure, Clonic seizure, Bilateral tonic-clonic seizure...	OMIM:619580
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Yellow Fever	Seizure, Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal he...	ORPHA:99829
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Bradycardia	OMIM:218700
Pulmonary Arteriovenous Malformation	Epistaxis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemothorax, Ischemic st...	ORPHA:2038
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,...	ORPHA:99826
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Botulism	Arrhythmia	ORPHA:1267
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome	OMIM:601338
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure	ORPHA:52430
Castleman Disease	Follicular hyperplasia, Abdominal mass, Generalized lymphadenopathy, Lymphadenopathy, Thrombocyto...	ORPHA:160
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia	ORPHA:60040
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Generalized non-motor (absence) seizure, Seizure, Pulmonic stenosis, Bilateral tonic-clonic seizure	OMIM:615802
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Cardiac arrest, Myofiber disarray	OMIM:604377
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy	OMIM:616896
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy	OMIM:617183
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Mirizzi Syndrome	Tachycardia	ORPHA:521219
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Pulmonic stenosis, Bilate...	ORPHA:435638
Tangier Disease	Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis	ORPHA:31150
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Chromosome Xp11.3 Deletion Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:300578
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Syncope	ORPHA:98849
Intellectual Developmental Disorder, X-Linked 98	Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater...	OMIM:300912
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Hyperkalemic Periodic Paralysis	Arrhythmia, Congestive heart failure	ORPHA:682
Fontaine Progeroid Syndrome	Failure to thrive, Abnormal heart morphology, Tricuspid regurgitation, Neonatal death, Bicuspid a...	OMIM:612289
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Mitochondrial Trifunctional Protein Deficiency 1	Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:609015
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he...	ORPHA:340
Ritscher-Schinzel Syndrome 4	Short stature, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619435
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Pulmonary ...	OMIM:614437
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff...	OMIM:619313
Foodborne Botulism	Arrhythmia	ORPHA:228371
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,...	OMIM:268800
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure	ORPHA:481152
Leptospirosis	Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor...	ORPHA:509
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
1Q44 Microdeletion Syndrome	Short stature, Growth delay, Bilateral tonic-clonic seizure	ORPHA:238769
Bilateral Polymicrogyria	Seizure, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic...	ORPHA:268940
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Seizure, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic seizure, Growth delay	OMIM:617193
Migraine, Familial Hemiplegic, 2	Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:602481
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy...	OMIM:619127
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar...	ORPHA:93672
Warburg Micro Syndrome 3	Postnatal growth retardation, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:614222
Rheumatic Fever	Myocarditis, Epistaxis, Arrhythmia, Pericarditis	ORPHA:3099
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear...	OMIM:620646
Cranioectodermal Dysplasia 2	Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hepatomeg...	OMIM:613610
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Hermansky-Pudlak Syndrome 10	EEG abnormality, Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, EEG with bu...	OMIM:614231
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Myoclonic spasms, Bilateral tonic-clonic seizur...	ORPHA:73224
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Bicuspid ao...	OMIM:220111
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp...	OMIM:602782
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy	OMIM:618839
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, L...	ORPHA:284984
Refsum Disease	Cardiomyopathy, Heart block	ORPHA:773
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
3-Methylglutaconic Aciduria, Type Viii	Seizure, Bradycardia	OMIM:617248
Molybdenum Cofactor Deficiency, Type B	Seizure, Neonatal death, Bilateral tonic-clonic seizure, Myoclonic spasms, Growth delay	OMIM:252160
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Infantile spasms, Decreased amplitude of sensory action pote...	OMIM:618733
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy	OMIM:619053
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Eunuchoid habitus, Cardiomegaly, Thenar...	ORPHA:2463
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar...	ORPHA:727
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Myoclonic seizure, Focal impaired awareness seizure, Generalized-onset seizure, Epileptic spasm, ...	OMIM:620024
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Seizure, Congestive he...	ORPHA:3385
Developmental And Epileptic Encephalopathy 95	Seizure, EEG with burst suppression, Focal-onset seizure, Bilateral tonic-clonic seizure, Multifo...	OMIM:618143
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Sinus tachycardia, Seizure, Abnormal T-wave, ST segment dep...	ORPHA:466650
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, EEG abnormality, Generalized non-motor (absence) seizure, Febrile...	OMIM:617798
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi...	OMIM:619573
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Hypertension	ORPHA:231580
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Continuous spike and waves during slow sleep, Seizure, Generalized non-motor (absence) seizure, I...	OMIM:620224
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Neonatal death, Hepatomega...	OMIM:608013
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ...	ORPHA:758
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh...	ORPHA:100078
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Multiple Acyl-Coa Dehydrogenase Deficiency	Seizure, Cardiomyopathy, Congestive heart failure, Fatigable weakness of neck muscles, Arrhythmia	ORPHA:26791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c...	OMIM:608836
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Failure to thrive in infancy, Elbow flexion contracture...	ORPHA:96149
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy	OMIM:611719
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy	OMIM:620089
Alg3-Cdg	Cardiomyopathy	ORPHA:79321
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Ogden Syndrome	Arrhythmia, Cardiogenic shock	ORPHA:276432
Autosomal Dominant Hypocalcemia	Hypotension, Congestive heart failure, Fatigable weakness, Arrhythmia, Cortical myoclonus	ORPHA:428
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy	OMIM:617710
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy	OMIM:105210
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi...	OMIM:617022
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Macroglossia, Bradycardia	ORPHA:226307
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona...	ORPHA:500
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia	ORPHA:31824
Congenital Tracheomalacia	Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car...	ORPHA:95430
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Infantile spasms, Cardiac conductio...	ORPHA:255210
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Cardiomyopathy, Generalized non-motor (absence) seizure, Seizure, Reduced left ventricular ejecti...	ORPHA:258
Beta-Thalassemia	Hypertrophic cardiomyopathy	ORPHA:848
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P...	OMIM:615415
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia	OMIM:619482
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Genetic Recurrent Myoglobinuria	Arrhythmia, Fatigable weakness of swallowing muscles	ORPHA:99845
Propionic Acidemia	Cerebellar hemorrhage, Cardiomyopathy	OMIM:606054
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Generalized non-motor (absence) seizure, EEG with generalized sharp s...	ORPHA:369837
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic sei...	ORPHA:395
Japanese Encephalitis	Decreased motor nerve conduction velocity, EEG with burst suppression, Myoclonus, EEG abnormality...	ORPHA:79139
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Mosaic Variegated Aneuploidy Syndrome 1	Seizure, Postnatal growth retardation, Intrauterine growth retardation, Bilateral tonic-clonic se...	OMIM:257300
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Atrial septal defect	ORPHA:1842
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Mitral regurgitation, Cardiomyopathy, Mitral valve prolapse	OMIM:258450
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal testi...	ORPHA:85450
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms	ORPHA:94089
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Arrhythmia, Mitral regurgitation, Seizure	ORPHA:254346
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Tricuspid regurgitation, Limb hypertonia	OMIM:620306
Congenital Enterovirus Infection	Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy	ORPHA:292
Roifman Syndrome	Noncompaction cardiomyopathy	ORPHA:353298
Legionnaires Disease	Myocarditis, Hypotension, Arrhythmia, Pericarditis	ORPHA:549
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Subar...	OMIM:613795
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Re...	ORPHA:247691
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Gm1-Gangliosidosis, Type I	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive ...	OMIM:230500
Glass Syndrome	Short stature, Bilateral tonic-clonic seizure, Seizure, Febrile seizure (within the age range of ...	OMIM:612313
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Biotinidase Deficiency	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Generalized myocl...	ORPHA:79241
Mgat2-Cdg	Seizure, Infantile spasms, Arrhythmia, Hypsarrhythmia, Reflex asystolic syncope	ORPHA:79329
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy	ORPHA:5
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Noonan Syndrome	Hypertrophic cardiomyopathy, Arrhythmia, Abnormal EKG	ORPHA:648
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy	OMIM:618835
Oliver Syndrome	Intrauterine growth retardation, Bilateral tonic-clonic seizure	ORPHA:2920
Ivic Syndrome	Arrhythmia	ORPHA:2307
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Generalized tonic seizure, Growth delay, Bilateral tonic-clonic seizure, Febrile seizure (within ...	ORPHA:496641
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Growth delay, Bilateral tonic-clonic seizure	ORPHA:436159
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure	ORPHA:99742
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy	ORPHA:496790
Congenital Heart Defects, Multiple Types, 9	Left axis deviation, Pulmonic stenosis	OMIM:620294
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy	OMIM:614462
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Myoclonic seizure, Seizure, Tonic seizure, Pulmonary arterial hypertension, Prolonged QT interval...	OMIM:620029
Agel Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy	ORPHA:85448
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy	ORPHA:370959
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Cardiomyopathy	OMIM:251000
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Dilated cardiomyopathy, Seizure	ORPHA:66634
X Small Rings	Bilateral tonic-clonic seizure, Mitral stenosis, Seizure	ORPHA:96201
Intellectual Developmental Disorder, Autosomal Dominant 54	Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Short stature, Growth delay, Focal impai...	OMIM:617799
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years)	ORPHA:3044
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem...	ORPHA:1772
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Jaberi-Elahi Syndrome	Bilateral tonic-clonic seizure	OMIM:617988
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert...	ORPHA:892
Giant Cell Arteritis	Vasculitis, Epistaxis, Cerebral ischemia, Arrhythmia, Sudden cardiac death, Pericarditis	ORPHA:397
Wolfram Syndrome 1	Cardiomyopathy	OMIM:222300
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Vici Syndrome	Cardiomyopathy	ORPHA:1493
Webb-Dattani Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:615926
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Macroglossia, Failure to thrive, Congestive heart failure, Hypertrophic car...	OMIM:252500
Hermansky-Pudlak Syndrome 1	Hematochezia, Epistaxis, Cardiomyopathy	OMIM:203300
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:79083
Fatty Acid Hydroxylase-Associated Neurodegeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:329308
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:2348
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy	OMIM:201470
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Dilatation of the ventricular cavity, Cardiomyopathy	ORPHA:363623
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Progeria-Short Stature-Pigmented Nevi Syndrome	Multiple joint contractures, Supraventricular arrhythmia	ORPHA:2959
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:615895
Acquired Generalized Lipodystrophy	Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy	ORPHA:79086
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Arrhythmia	ORPHA:261211
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pulmonary hemorrhage, Portal hypertension, Bilateral tonic-clonic seizure	ORPHA:79124
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:613706
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Myoclonus, Bilateral tonic-clonic seizure	OMIM:620451
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia	ORPHA:3220
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Hypoglycemic seizures, Prolonged QT interval, Dilated cardiomyopathy	ORPHA:71212
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Seizure, Tricuspid regurgitation, Vitreous hemorrhage, Hypsarrhythmia, Bilateral tonic-clonic sei...	OMIM:620371
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Severely reduced left ventricular ejection fraction, Cardiomyopathy	OMIM:252600
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Dilated cardiomyopathy, Seizure, Concentric hypertrophic cardiomy...	OMIM:610505
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Seizure	OMIM:300352
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy	OMIM:614922
Localized Scleroderma	Vasculitis, Seizure, Arrhythmia, Raynaud phenomenon, Focal impaired awareness seizure	ORPHA:90289
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy...	ORPHA:91347
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Lymphedema-Distichiasis Syndrome	Arrhythmia	ORPHA:33001
Phakomatosis Pigmentokeratotica	Arrhythmia, Raynaud phenomenon, Seizure	ORPHA:2874
Fucosidosis	Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, G...	OMIM:230000
Carnitine Palmitoyltransferase Ii Deficiency	Arrhythmia, Cardiomyopathy	ORPHA:157
Congenital Generalized Lipodystrophy	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:528
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Secundum atrial septal defect	OMIM:619121
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure	OMIM:301040
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy	OMIM:618810
Gm1 Gangliosidosis	Abnormal heart morphology, Ventricular septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:354
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Seizure	OMIM:614052
Aicardi-Goutieres Syndrome 1	Vasculitis, Cardiomyopathy	OMIM:225750
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Arrhythmia, Seizure	OMIM:615471
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Arrhythmia	OMIM:619184
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ...	ORPHA:251071
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin, Seizure	ORPHA:2135
Degcags Syndrome	Patent foramen ovale, Ventricular septal defect, Dysplastic pulmonary valve, Pulmonary arterial h...	OMIM:619488
Dpagt1-Cdg	Seizure, Epileptic spasm, Hypsarrhythmia, EEG with generalized slow activity, Prolonged QT interv...	ORPHA:86309
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:610733
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypovolemia	ORPHA:99885
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Plague	Hypotension, Arrhythmia, Hematemesis, Tachycardia, Endocarditis	ORPHA:707
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythmia, Myoclonic spasms	ORPHA:447997
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy	ORPHA:445038
Kinsship Syndrome	Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure, Short stature...	OMIM:619297
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block	ORPHA:416
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Cartilage-Hair Hypoplasia	EEG abnormality, Cardiomyopathy, Heart block	ORPHA:175
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Cardiomyopathy	ORPHA:206549
Hallermann-Streiff Syndrome	Telangiectasia, Pulmonary arterial hypertension, Hypertension, Bilateral tonic-clonic seizure	OMIM:234100
Weaver Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:277590
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy	ORPHA:88618
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Mucopolysaccharidosis, Type Vi	Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Mitral stenosis...	OMIM:253200
Legius Syndrome	Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse	ORPHA:137605
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Hamamy Syndrome	Prolonged QRS complex, Mitral regurgitation	OMIM:611174
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure	OMIM:261515
Tuberous Sclerosis 1	Cardiac rhabdomyoma, Wolff-Parkinson-White syndrome	OMIM:191100
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Undetectable visual evoked potentials, Bilateral tonic-clonic seizur...	OMIM:252010
Abetalipoproteinemia	Failure to thrive, Congestive heart failure, Myopathy, Cardiomegaly, Distal lower limb muscle wea...	ORPHA:14
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm, Infantile s...	OMIM:620455
Usher Syndrome	Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Congestive heart failure, Tr...	ORPHA:3260
Hurler Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Angina pectoris, Hyp...	ORPHA:93473
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Abnormal cardiac septum morphology, Cardiomyopathy	OMIM:217980
De Sanctis-Cacchione Syndrome	Telangiectasia, Bilateral tonic-clonic seizure	OMIM:278800
Noonan Syndrome 14	Aortic regurgitation, Pulmonic stenosis, Hypertrophic cardiomyopathy, Mitral valve prolapse	OMIM:619745
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Seizure, Intrauterine growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, Multi...	OMIM:301044
Hurler Syndrome	Aortic regurgitation, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:607014
Friedreich Ataxia	Cardiomyopathy	ORPHA:95
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Dominant Beta-Thalassemia	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly	OMIM:618278
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure	OMIM:181270
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy	OMIM:616084
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Failure to thrive, Congestive heart failure, Camptodactyly of finger, El...	OMIM:256040
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy	OMIM:607426
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia...	OMIM:130650
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:466943
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ...	ORPHA:268261
Lymphedema-Distichiasis Syndrome	Arrhythmia	OMIM:153400
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy	ORPHA:98907
Shwachman-Diamond Syndrome 1	Short stature, Myocardial necrosis	OMIM:260400
Kleefstra Syndrome	Arrhythmia, Seizure	ORPHA:261494
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr...	OMIM:605275
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Abnormal aortic valve morphology, C...	ORPHA:579
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy	ORPHA:572798
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita...	ORPHA:391665
Congenital Disorder Of Glycosylation, Type Ia	Pericardial effusion, Cardiomyopathy, Pericarditis	OMIM:212065
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Wolff-Parkinson-White syndrome	OMIM:613254
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Myoclonus, Seizure	OMIM:618426
Scimitar Syndrome	Congestive heart failure, Pulmonary arterial hypertension, Left-to-right shunt, Heart block	ORPHA:185
Wiskott-Aldrich Syndrome	Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis...	ORPHA:906
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Cardiomyopathy	OMIM:253220
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619512
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Seizure	ORPHA:488627
Beta-Thalassemia Major	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231214
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Macroglossia, Mitral valve prolapse, Wolff-Parkinson-White syndrome	ORPHA:369950
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure...	ORPHA:459070
Cockayne Syndrome B	Abnormal auditory evoked potentials, Seizure, Decreased nerve conduction velocity, Arrhythmia, Hy...	OMIM:133540
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova...	OMIM:609942
Autoinflammatory Disease, Systemic, With Vasculitis	Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vas...	OMIM:620376
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Cockayne Syndrome A	Abnormal auditory evoked potentials, Seizure, Decreased nerve conduction velocity, Arrhythmia, Hy...	OMIM:216400
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Seizure, Cerebral ischemia, Hypertension, Ang...	ORPHA:900
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hypertrophic cardiomyopathy	ORPHA:436271
Gm1 Gangliosidosis Type 1	Cardiomyopathy	ORPHA:79255
Ulnar-Mammary Syndrome	Arrhythmia	ORPHA:3138
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal tr...	ORPHA:217085
Mucopolysaccharidosis Type 2	Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va...	ORPHA:580
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Seizure, Pulmonic stenosis	ORPHA:529962
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Hypocalcemic Vitamin D-Dependent Rickets	Cardiomyopathy	ORPHA:289157
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal tr...	ORPHA:217093
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestive heart failure	ORPHA:508542
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cardiomyopathy	ORPHA:264580
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:617506
Holoprosencephaly 14	EEG abnormality, Bilateral tonic-clonic seizure	OMIM:619895
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arrhythmia, Seizure	ORPHA:163746
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy	ORPHA:79430
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy	OMIM:220110
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy	OMIM:618329
Familial Mediterranean Fever	Vasculitis, Seizure, Arrhythmia, Myocardial infarction, Pericarditis	ORPHA:342
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypertrophic cardiomyopathy, Obesity, Large for gestational age, Diastasis recti, ...	ORPHA:116
Hereditary Spherocytosis	Restrictive cardiomyopathy	ORPHA:822
Oculodentodigital Dysplasia	Arrhythmia, Seizure	ORPHA:2710
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure	OMIM:280000
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy	OMIM:610717
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Toriello-Carey Syndrome	Tetralogy of Fallot, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis	ORPHA:3338
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Pagod Syndrome	Arrhythmia, Sudden cardiac death	ORPHA:991
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:769
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure	ORPHA:98908
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi...	ORPHA:51
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy...	OMIM:182250
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Severe failure to t...	ORPHA:3472
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms	ORPHA:79444
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic...	ORPHA:904
Oculodentodigital Dysplasia	Arrhythmia, Seizure	OMIM:164200
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d...	OMIM:617403
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy	ORPHA:3463
Postinfectious Vasculitis	Bacterial endocarditis, Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Raynaud phenomenon,...	ORPHA:48435
Liver Disease, Severe Congenital	Failure to thrive, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Vent...	OMIM:619991
Trichothiodystrophy	Cardiomyopathy, Ventricular septal defect	ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Kawasaki Disease	Vasculitis, Congestive heart failure, Arrhythmia, Myocarditis, Pericarditis	ORPHA:2331
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypocalcemic seizures, Hypertension, Myoclonic spasms	ORPHA:79443
Isolated Complex I Deficiency	Hypertrophic cardiomyopathy	ORPHA:2609
Hartsfield Syndrome	Growth delay, Bilateral tonic-clonic seizure	OMIM:615465
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Left ventricular systolic dysfunction, Tra...	ORPHA:51608
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio...	ORPHA:2556
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:513456
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy	OMIM:616539
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Dermatomyositis	Vasculitis, Sinus tachycardia, Arrhythmia, Pulmonary arterial hypertension, Telangiectasia of the...	ORPHA:221
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se...	OMIM:612474
Cockayne Syndrome Type 3	Retinal hemorrhage, Subdural hemorrhage, Increased blood pressure, Cardiomyopathy	ORPHA:90324
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy	OMIM:613673
Choreoacanthocytosis	Bilateral tonic-clonic seizure, Dilated cardiomyopathy, Decreased amplitude of sensory action pot...	ORPHA:2388
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Prolonged QT interval, Seizure, Cardiomyopathy	ORPHA:373
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Pericardial effusion, Hyperte...	OMIM:615846
Orofaciodigital Syndrome Type 2	Short stature, Bilateral tonic-clonic seizure	ORPHA:2751
Gaucher Disease	Pulmonary arterial hypertension, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:355
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr...	ORPHA:363958
Holoprosencephaly	Arrhythmia, Seizure	ORPHA:2162
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Transient ischemic attack, Atrial septal defect	OMIM:600268
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short stature, Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:614756
Pearson Syndrome	Abnormal heart morphology, Cardiac conduction abnormality, Cardiomyopathy	ORPHA:699
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure	ORPHA:457359
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertrophic cardiomyopathy, Portal hypertension	ORPHA:309854
Schwartz-Jampel Syndrome	Arrhythmia, Pulmonary arterial hypertension	ORPHA:800
Doors Syndrome	EEG abnormality, Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Febri...	OMIM:620330
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia	OMIM:250220
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Proteus Syndrome	Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged polycystic ovari...	ORPHA:744
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Tyrosinemia, Type I	Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage, Melena	OMIM:276700
Zimmermann-Laband Syndrome 1	Cardiomyopathy	OMIM:135500
Specc1L-Related Hypertelorism Syndrome	Arrhythmia	ORPHA:1519
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial...	OMIM:218040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bilateral tonic-clonic seizure on awakening, Seizure, Epileptic spasm, Myoclonus, Generalized ton...	ORPHA:438213
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy	OMIM:608594
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Melena, Atypical absence status epilepticus, Hypertension	ORPHA:652
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap...	ORPHA:363700
Hypermobile Ehlers-Danlos Syndrome	Epistaxis, Arrhythmia, Raynaud phenomenon, Decreased nerve conduction velocity	ORPHA:285
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Ventricular septal hypertrophy	OMIM:269700
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Ventricular septal defect, Arrhythmia, T...	OMIM:312870
Kabuki Syndrome 1	Focal impaired awareness seizure, Seizure, Postnatal growth retardation, Short stature, Growth de...	OMIM:147920
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:881
Bardet-Biedl Syndrome	Abnormal heart morphology, Hypertension, Cardiomyopathy	ORPHA:110
Ulnar-Mammary Syndrome	Arrhythmia	OMIM:181450
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-...	ORPHA:821
Stickler Syndrome	Arrhythmia	ORPHA:828
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy	ORPHA:480880
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a...	OMIM:216340
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ryr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ryr2.

No publications found that use IMPC mice or data for Ryr2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ryr2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ryr2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ryr2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ryr2 MGI:99685

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

OPT E9.5

X-ray

Echo

X-ray

Adult LacZ

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Ryr2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data