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Gene: Cacna1c MGI:103013

Gene Summary

Name:

calcium channel, voltage-dependent, L type, alpha 1C subunit

Synonyms:

D930026N18Rik, Cav1.2, L-type Cav1.2, Cchl1a1, (alpha)1 subunit

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	Allele	Zyg	Life Stage	P Value
abnormal liver morphology	Cacna1c^em1(IMPC)Mbp	HET	Early adult	0.00
increased freezing behavior	Cacna1c^em1(IMPC)Mbp	HET	Early adult	2.25×10^-06
abnormal placenta morphology	Cacna1c^em1(IMPC)Mbp	HET	E15.5	0.00
prenatal lethality prior to heart atrial septation	Cacna1c^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Cacna1c^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Cacna1c^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Cacna1c^em1(IMPC)Mbp	HET	Early adult	0.00
decreased locomotor activity	Cacna1c^em1(IMPC)Mbp	HET	Early adult	7.48×10^-05
abnormal kidney morphology	Cacna1c^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal caudal vertebrae morphology	Cacna1c^em1(IMPC)Mbp	HET	Early adult	1.19×10^-06
small liver	Cacna1c^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Cacna1c^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

13 Images

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Human diseases caused by Cacna1c 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 Cacna1c (6 diseases)
Human diseases predicted to be associated with Cacna1c (1737 diseases)

The table below shows human diseases associated to Cacna1c by orthology or direct annotation.

Disease	Matching phenotypes	Source
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029

The table below shows human diseases predicted to be associated to Cacna1c by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Dilated, 1Ff	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiac Lipidosis, Familial	Congestive heart failure, Death in infancy, Cardiomyopathy	OMIM:212080
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance	ORPHA:2274
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract...	OMIM:614096
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Ethanolaminosis	Death in infancy, Cardiomegaly	OMIM:227150
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr...	OMIM:265400
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Intellectual Developmental Disorder, Autosomal Recessive 66	Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Pick Disease Of Brain	Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion...	OMIM:172700
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc...	ORPHA:275766
Combined Oxidative Phosphorylation Deficiency 17	Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy	OMIM:615440
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin...	ORPHA:335
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ...	OMIM:608636
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Patent ductus arteriosus, Weak grip, Distal amyotrophy, Distal uppe...	OMIM:619519
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e...	OMIM:540000
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:228169
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia	OMIM:620265
Sandhoff Disease	Splenomegaly, Congestive heart failure, Cherry red spot of the macula, Hepatomegaly	ORPHA:796
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmon...	OMIM:619751
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia	OMIM:310095
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia	OMIM:618453
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
N-Acetylaspartate Deficiency	Short attention span, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia	OMIM:602079
Bronchopulmonary Dysplasia	Right ventricular hypertrophy, Right ventricular failure	ORPHA:70589
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition...	OMIM:600795
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Abnormal repetitive mannerisms, Hydrocephalus, Attention deficit hyperactivity ...	OMIM:618709
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Periventricular heterot...	ORPHA:98892
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Myopath...	ORPHA:157973
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at...	ORPHA:57777
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig...	OMIM:300049
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers	OMIM:616794
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner...	OMIM:612069
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Death in childhood	OMIM:269920
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Pityriasis Rubra Pilaris	Pruritus, Pustule, Eczema, Erythroderma	ORPHA:2897
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Monosodium Glutamate Sensitivity	Palpitations	OMIM:231630
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing...	ORPHA:185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc...	OMIM:615703
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Death in infancy, Ventricular septal defect, Lissencephaly, Arthrogryposis multiple...	OMIM:613404
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Atrial...	OMIM:267010
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Patent Ductus Arteriosus 2	Patent ductus arteriosus	OMIM:617035
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Death in infancy, Ventricular septal defect, Lissencephaly, Atrial septal defe...	OMIM:208085
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Patent Ductus Arteriosus 3	Patent ductus arteriosus	OMIM:617039
Patent Ductus Arteriosus 1	Patent ductus arteriosus	OMIM:607411
Adams-Oliver Syndrome 5	Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten...	OMIM:616028
Cednik Syndrome	Congestive heart failure, Pachygyria, Stroke, Polymicrogyria	ORPHA:66631
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon...	OMIM:618845
Non-Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141179
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Idiopathic/Heritable Pulmonary Arterial Hypertension	Fatigue, Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia	OMIM:615010
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper...	OMIM:615382
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Dystonia 23	Arrhythmia	OMIM:614860
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Simplified gyral pattern, Atrial septal defect, Patent foramen ovale, ...	OMIM:614261
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen, Elevated uri...	OMIM:121300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Illum Syndrome	Bradycardia	OMIM:208155
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar...	OMIM:126320
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic failure, Hepatic ...	OMIM:616719
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141184
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Abnormal cortical gyration, Spinal muscular atrophy, Patent ductus arter...	OMIM:616867
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Ventriculomegaly, Dysphagia	OMIM:617862
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab...	ORPHA:980
Alopecia-Intellectual Disability Syndrome 4	Agitation, Erythroderma	OMIM:618840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Con...	ORPHA:1194
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric...	OMIM:265380
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Aggressive behavior, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms, Ventriculom...	OMIM:619150
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Cardiomyopathy, Dilated, 2H	Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left v...	OMIM:620203
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613736
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,...	ORPHA:363705
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:617820
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability	OMIM:612126
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:99811
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension, Right ventricular hypertrophy	ORPHA:217563
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Stroke-like episode, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morpho...	ORPHA:70472
Mitochondrial Complex I Deficiency, Nuclear Type 20	Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Stroke, Death in childhood, H...	OMIM:611126
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Otitis media, Eryt...	ORPHA:169160
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia, Abnormal form of the vertebral bodies	ORPHA:1802
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio...	ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Congenital Myopathy 11	Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Atransferrinemia	Congestive heart failure	OMIM:209300
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Glutamine Deficiency, Congenital	Neonatal death, Bradycardia	OMIM:610015
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Foxg1 Syndrome	Cognitive impairment, Bruxism, Impaired social interactions, Abnormal repetitive mannerisms, Paro...	ORPHA:561854
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia...	ORPHA:1120
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr...	OMIM:615355
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc...	OMIM:181350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-ind...	ORPHA:3077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Hydrocephalus, Aggressive behavior	OMIM:619470
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death...	OMIM:608978
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Thrombocytopenia, Choreoathetosis, Neu...	ORPHA:79312
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Periventricular hetero...	OMIM:618974
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ...	ORPHA:79083
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Thrombocytopenia	OMIM:231000
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension	OMIM:619064
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati...	ORPHA:137667
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh...	ORPHA:449291
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Babesiosis	Splenomegaly, Congestive heart failure, Myocardial infarction, Hepatomegaly	ORPHA:108
Cln3 Disease	T-wave inversion, Bradycardia	ORPHA:228346
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Arrhythmia	ORPHA:99944
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ...	OMIM:619051
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ...	ORPHA:2348
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls...	ORPHA:444002
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Congenital Ichthyosiform Erythroderma	Keratitis, Erythroderma, Pruritus	ORPHA:79394
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Abnormal vertebral...	ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Gray ...	OMIM:617397
Pentasomy X	Patent ductus arteriosus, Abnormal cardiac septum morphology, Camptodactyly of finger	ORPHA:11
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Irritability, Cirrhosis, Hepat...	OMIM:613489
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Early-Onset Autosomal Dominant Alzheimer Disease	Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc...	ORPHA:1020
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Blepharitis, Erythroderma	OMIM:614328
Variegate Porphyria	Tachycardia	OMIM:176200
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil...	ORPHA:1054
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Aggr...	OMIM:252920
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Patent ductus arteriosus	OMIM:610498
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Cold Agglutinin Disease	Back pain, Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Sialidosis Type 2	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Nephropathy, Ascites	ORPHA:87876
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90037
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre...	OMIM:176670
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Ventriculomegaly	OMIM:304790
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm	ORPHA:261102
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac...	OMIM:610042
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Hyperkalemic Periodic Paralysis	Death in early adulthood, Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Fl...	ORPHA:682
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Gm1-Gangliosidosis, Type I	Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Congestive heart failure, Spleno...	OMIM:230500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r...	OMIM:601927
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti...	ORPHA:139402
Pemphigus Foliaceus	Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Cardiomyopathy, Arrhythmia	OMIM:612999
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Patent ductus arteriosus	OMIM:122430
Peeling Skin Syndrome 1	Pruritus, Erythroderma	OMIM:270300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus, Flexion contracture	OMIM:618658
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Camptodactyly of finger	ORPHA:261519
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation	OMIM:220220
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard...	OMIM:605676
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia	ORPHA:3386
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M...	ORPHA:555877
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Hsd10 Disease	Short attention span, Abnormal social behavior, Dysphagia	ORPHA:391417
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Ankle flexion contracture, Splenomegaly, Patent ductus arteriosus, Knee flexion con...	OMIM:608799
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Transketolase Deficiency	Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivitis, Attention deficit hypera...	ORPHA:488618
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhinitis, Erythroderma	OMIM:256500
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Proteinuria, Splenomegaly, Athetosis, Nephrotic syndrome, Gait disturbance,...	ORPHA:834
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Myopathy, X-Linked, With Postural Muscle Atrophy	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:300696
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigue, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperamm...	ORPHA:42
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia	OMIM:616516
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Dextrocardia	ORPHA:2863
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Harlequin Ichthyosis	Self-injurious behavior, Erythroderma	ORPHA:457
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumba...	OMIM:252900
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma	ORPHA:312
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def...	OMIM:615668
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Patent ductus arteriosus, Lissencephaly, Death in childhood, Hypertrop...	OMIM:612938
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Abnormal repetitive mannerisms	OMIM:617393
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis...	ORPHA:26791
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Lissencephaly, Atri...	OMIM:618142
Combined Oxidative Phosphorylation Deficiency 33	Fatigue, Exercise intolerance, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:617713
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic root aneurysm, Flexion ...	ORPHA:280633
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Patent ductus arteriosus, Pachygyria, Ventricular septal defect	ORPHA:452
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Patent ductus arteriosus, Perimembranous ventricular septal defec...	OMIM:608104
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Pruritis on hand, Malar rash	ORPHA:90280
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Analbuminemia	Patent ductus arteriosus, Hypotension	OMIM:616000
Mahvash Disease	Palpitations	OMIM:619290
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Emotio...	ORPHA:79264
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Death in infancy, Morgagni diaphragmatic hernia, Vascular di...	OMIM:613177
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre...	OMIM:617021
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ov...	OMIM:252930
Ichthyosis With Confetti	Pruritus, Erythroderma	OMIM:609165
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure, Death in infancy	OMIM:619355
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition...	OMIM:607485
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1842
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus a...	OMIM:601186
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Patent ductus arteriosus, Flexion contractu...	OMIM:617303
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Gait disturbance...	OMIM:230600
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly...	OMIM:209950
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden cardiac death, Cardiomeg...	OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation	ORPHA:53721
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr...	ORPHA:53035
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,...	OMIM:208540
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Erythroderma	ORPHA:313
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Patent ductus arteriosus, Subvalvular aortic stenosis	ORPHA:1338
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy,...	ORPHA:528
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Distal Deletion 17Q	Hepatomegaly, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:1597
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Periventricular heterotopia...	OMIM:618870
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Eczema, Erythroderma	OMIM:619510
Pseudo-Torch Syndrome 3	Hypertension, Death in infancy, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Congestive heart failure, Splenomegaly, Hepatomegaly	ORPHA:75564
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atrial septal de...	ORPHA:290
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal bleeding, Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Elbow f...	ORPHA:1900
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Hepatomegaly, Death in infancy, Ventricular septal defect, Abnormal cortical g...	OMIM:614576
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia	OMIM:611490
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Arteriovenous malformation	ORPHA:137608
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Hypoplastic left heart	OMIM:617661
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology	ORPHA:2412
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular...	ORPHA:280365
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hepatosplenomega...	OMIM:606003
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Congenital Myopathy 22A, Classic	Neonatal death, Tricuspid regurgitation, Bradycardia	OMIM:620351
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:618342
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Facial hypotonia, First degree atrioventricular block, Patent ductus arterio...	ORPHA:589821
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia,...	ORPHA:77259
Congenital Disorder Of Glycosylation, Type If	Ventriculomegaly, Erythroderma	OMIM:609180
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Char Syndrome	Patent ductus arteriosus	OMIM:169100
Pseudo-Torch Syndrome 1	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Lissencephaly, Pachygyria, Patent foramen o...	OMIM:251290
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus,...	OMIM:608149
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Paten...	ORPHA:354
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas...	ORPHA:33226
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a...	OMIM:614857
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia	ORPHA:2928
Netherton Syndrome	Skin rash, Eczema, Erythroderma	ORPHA:634
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Dietary Iron Overload Disease	Hepatic periportal necrosis, Congestive heart failure, Abnormal heart morphology, Hepatomegaly	ORPHA:139507
Joubert Syndrome 33	Splenomegaly, Ataxia	OMIM:617767
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90033
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re...	OMIM:620300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
Omenn Syndrome	Pruritus, Pneumonia, Thyroiditis, Erythroderma	ORPHA:39041
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Patent ductus arteriosus, Lissencephaly, Aortic valve stenosis, Pachygyria	OMIM:243310
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu...	OMIM:612863
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Unilateral renal agenes...	OMIM:216360
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Polymicrogyria, Bicuspid aortic valve	OMIM:617751
Immunodeficiency 25	Recurrent pneumonia, Erythroderma	OMIM:610163
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Patent ductus arteriosus	ORPHA:1952
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy o...	ORPHA:251071
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat...	OMIM:602782
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive mannerisms, D...	ORPHA:927
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart...	ORPHA:363444
Idiopathic Pulmonary Hemosiderosis	Fatigue, Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar...	ORPHA:97214
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Sézary Syndrome	Pruritus, Erythroderma	ORPHA:3162
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Ventricul...	OMIM:613443
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Kapur-Toriello Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria, Polymicrogyria	ORPHA:2328
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Patent ductus arteriosus	ORPHA:2123
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Chronic oral candidiasis	OMIM:606367
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Thanatophoric Dysplasia	Atrial septal defect, Gray matter heterotopia, Patent ductus arteriosus	ORPHA:2655
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Thanatophoric Dysplasia Type 2	Atrial septal defect, Patent ductus arteriosus, Abnormality of neuronal migration	ORPHA:93274
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu...	OMIM:601808
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis	ORPHA:540
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Lethal Faciocardiomelic Dysplasia	Patent ductus arteriosus, Hypoplastic left heart	ORPHA:1972
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus	ORPHA:1516
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability	OMIM:228000
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	OMIM:617695
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D...	ORPHA:98784
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Glycogen Storage Disease Ii	Exercise intolerance, Wolff-Parkinson-White syndrome, Right axis deviation, Hepatomegaly, Increas...	OMIM:232300
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyper...	OMIM:619580
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus	OMIM:615147
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hypertension, Palpitat...	ORPHA:525731
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis	ORPHA:228410
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma	OMIM:604777
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Cardiac arrest	ORPHA:168593
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Cardiomegaly, Hypertension, Death in childhood, Pulmonary arterial hypertension...	OMIM:613320
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome...	ORPHA:824
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms, Shyness	ORPHA:280763
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger	ORPHA:915
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Lymphatic Malformation 13	Atrial septal defect, Patent ductus arteriosus, Mitral regurgitation, Neonatal death, Pulmonary a...	OMIM:620244
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu...	ORPHA:75249
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa...	ORPHA:381
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Miscarriage, Abnormal cerebral vascular morp...	ORPHA:902
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality...	ORPHA:464329
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple...	OMIM:257220
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, E...	OMIM:615508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion...	ORPHA:505248
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus...	OMIM:620024
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	OMIM:241310
Emanuel Syndrome	Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pate...	OMIM:609029
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept...	ORPHA:2519
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten...	ORPHA:85450
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Dys...	OMIM:620327
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Tongue thrusting	ORPHA:77299
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ...	OMIM:618917
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale, Epistaxis	ORPHA:293939
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:79456
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Ventriculomegaly	ORPHA:85277
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion co...	OMIM:309900
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction	ORPHA:54057
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Abdominal aortic aneurysm, Congestive heart failure	OMIM:617253
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Splenomegaly, Emotional lability, Irritability, Lethargy	OMIM:201100
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Death in infancy, Splenomegaly, Congestive heart failure, Death in adole...	OMIM:615512
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr...	ORPHA:100924
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral...	OMIM:612582
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A...	ORPHA:1454
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Eczema, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repet...	OMIM:600430
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
6P22 Microdeletion Syndrome	Patent ductus arteriosus	ORPHA:251046
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Alstrom Syndrome	Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Atherosclerosis	OMIM:203800
Typhoid	Splenomegaly, Hepatomegaly, Ataxia, Lethargy	ORPHA:99745
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Death in infancy, Skeletal muscle atrophy, Secundum atrial septal defect, Congestiv...	OMIM:608779
Trisomy 17P	Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Macroglossia, Hypoplastic...	ORPHA:261290
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Patent ductus arteriosus, Periventricular nodular heterotopia, Facial hypotonia	OMIM:618659
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Death in childhood	OMIM:618961
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly	OMIM:614846
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Pulmonary arterial hyp...	ORPHA:220393
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Aggressive behavior, Motor deterioration, Dementia, Low frustration tolerance, Men...	ORPHA:168491
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ...	OMIM:123700
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca...	OMIM:618280
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Erythroderma	OMIM:242150
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing	OMIM:614104
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate...	OMIM:270100
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Joint contracture o...	OMIM:244300
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive...	ORPHA:94093
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus	OMIM:619797
Chronic Intestinal Pseudoobstruction	Patent ductus arteriosus	ORPHA:2978
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Arteriosclerosis of small cere...	ORPHA:1830
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Camptodactyly of finger	ORPHA:2547
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven...	ORPHA:90307
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the ureter, Scoliosis	ORPHA:1133
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Facial palsy, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Right ...	OMIM:620186
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Vertebral compression fracture, ...	OMIM:230800
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Dandy-Walker malformation, Erythroderma	OMIM:302960
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Congenital Disorder Of Glycosylation, Type It	Fatigue, Exercise intolerance, Tachycardia, Hepatomegaly, Ventricular septal defect, Elevated cir...	OMIM:614921
Tetrasomy 5P	Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arteria...	ORPHA:3309
Polymicrogyria Due To Tubb2B Mutation	Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Abnormal temper tantrums, ...	ORPHA:300573
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure	ORPHA:67
Odontochondrodysplasia	Death in infancy, Patent ductus arteriosus	ORPHA:166272
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Xq28 (MECP2) duplication	Depression, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Lujo Hemorrhagic Fever	Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension	ORPHA:319213
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Hyperactivity, Restlessness, Thoracic scoliosis, Pilonidal sinus, Aggressive behavi...	OMIM:252940
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Christianson Syndrome	Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia	ORPHA:85278
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Biotinidase Deficiency	Skin rash, Conjunctivitis, Recurrent skin infections, Seborrheic dermatitis	OMIM:253260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast...	OMIM:312870
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Avian Influenza	Congestive heart failure, Rhabdomyolysis, Miscarriage	ORPHA:454836
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Congestive heart failure, Pulmonary arterial hypertension	OMIM:616482
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition...	OMIM:201000
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Mucopolysaccha...	ORPHA:584
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos...	OMIM:300908
Hec Syndrome	Cardiomyopathy, Arrhythmia	ORPHA:2119
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep...	OMIM:158170
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Chromosome 15Q11.2 Deletion Syndrome	Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive behaviors...	OMIM:615656
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Splenomegaly, Patent ductus arteriosus, Abnormality of ne...	ORPHA:35107
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma	ORPHA:169154
Juvenile Polyposis Of Infancy	Abnormal bleeding, Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morpholo...	ORPHA:79076
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Congenital contr...	ORPHA:261279
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:3378
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car...	ORPHA:2712
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo...	ORPHA:579
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdomyolysis,...	OMIM:610505
Legionnaires Disease	Renal insufficiency, Ataxia, Proteinuria, Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadeno...	ORPHA:549
Cri-Du-Chat Syndrome	Short attention span, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mu...	OMIM:123450
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus	ORPHA:171839
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine...	OMIM:611881
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Inappropriate behavior, Disinhibition, Aggressive behavior	OMIM:221770
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, S...	OMIM:607625
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Chromosome 13Q33-Q34 Deletion Syndrome	Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricul...	OMIM:619148
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Arrhythmia, Tetralogy of Fallot	OMIM:153400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy	OMIM:615084
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary...	ORPHA:208447
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Thromb...	OMIM:603553
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thanatophoric Dysplasia Type 1	Atrial septal defect, Gray matter heterotopia, Patent ductus arteriosus	ORPHA:1860
Fanconi Anemia, Complementation Group B	Death in infancy, Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta	OMIM:300514
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia	ORPHA:230839
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Gray matter heterotopia, Cardiomyopathy, Myopat...	OMIM:242840
Mgat2-Cdg	Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology...	ORPHA:79329
Singleton-Merten Syndrome 2	Arrhythmia, Aortic valve stenosis	OMIM:616298
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia...	ORPHA:822
Familial Isolated Hypoparathyroidism	Arrhythmia	ORPHA:2238
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Congestive heart failure, Prolonged prothrombin time, Flexion contracture	OMIM:616271
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Patent ductus arteriosus	OMIM:615398
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Letterer-Siwe Disease	Stomatitis, Seborrheic dermatitis	OMIM:246400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Shashi-Pena Syndrome	Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia	OMIM:617190
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Bruxism	OMIM:615716
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve...	OMIM:231050
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu...	OMIM:612562
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:614886
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepat...	OMIM:610199
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Achilles tendon contracture, Congenita...	ORPHA:363528
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Irri...	OMIM:267700
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma	ORPHA:35173
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Spleno...	OMIM:612541
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Arrhythmia	OMIM:249270
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev...	ORPHA:228308
Hurler-Scheie Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Dermatan sulfate excret...	OMIM:607015
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Death in infancy, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid cont...	OMIM:608836
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy...	OMIM:300963
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,...	ORPHA:2331
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:217980
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma...	OMIM:610443
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia	OMIM:619648
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:259100
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord...	OMIM:619293
Ssr4-Cdg	Patent ductus arteriosus	ORPHA:370927
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Death in infancy, Patent ductus arteriosus	ORPHA:1790
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg...	ORPHA:829
Trichorhinophalangeal Syndrome, Type Ii	Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arterioveno...	OMIM:150230
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Pruritus, Dysphagia, Chronic hepatitis...	ORPHA:3260
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:616034
Multiple Sulfatase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Mucopolysacchariduria	OMIM:272200
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Abnormal circulating c...	OMIM:620306
Trisomy 1Q	Patent ductus arteriosus, Ventricular septal defect, Camptodactyly of finger, Congenital diaphrag...	ORPHA:261344
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red ...	ORPHA:17
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnormal heart morphology...	ORPHA:314588
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial...	ORPHA:284984
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Omenn Syndrome	Pneumonia, Erythroderma	OMIM:603554
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Abetalipoproteinemia	Abnormal bleeding, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Prolonged prot...	ORPHA:14
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Erythroderma	OMIM:601675
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ...	OMIM:617506
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, Camptodactyly, Atrial septal defect	ORPHA:397709
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Seborrheic dermatitis, Aggressive behavior, Tongue thrusting, Compulsive behaviors	ORPHA:369950
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
48,Xxyy Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression	ORPHA:10
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Arthritis, Eczematoid dermatitis	ORPHA:2796
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Leber Optic Atrophy	Arrhythmia	OMIM:535000
Prune Belly Syndrome	Patent ductus arteriosus, Aplasia of the abdominal wall musculature	OMIM:100100
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so...	OMIM:300912
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:277600
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a...	OMIM:617403
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Depression	ORPHA:457240
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis	ORPHA:65286
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia	ORPHA:772
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal...	OMIM:618914
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Glycogen accumulation in muscl...	ORPHA:365
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma	OMIM:617425
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Bruxism, Depression, Hostility, Dysphagia, Abnormal repetitive ma...	OMIM:300260
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai...	ORPHA:90349
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis, Camptodactyly	OMIM:616737
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Silver-Russell Syndrome 3	Patent ductus arteriosus, Elbow contracture	OMIM:616489
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Inappropriate behavior	ORPHA:309246
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Atelis Syndrome 2	Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegal...	ORPHA:84064
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy	ORPHA:352447
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Dysphagia	OMIM:607596
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Hepa...	ORPHA:391487
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Gray matter heterotopia, Macro...	OMIM:214100
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Partial agenesis of the corpus callosum, Keratoconju...	ORPHA:33364
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Polydipsi...	OMIM:239200
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus	OMIM:609757
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Splenom...	OMIM:214500
Wiedemann-Steiner Syndrome	Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct...	OMIM:605130
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Patent ductus arte...	ORPHA:96167
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet...	ORPHA:163956
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria...	ORPHA:2637
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation...	OMIM:618454
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Scoliosis	OMIM:612918
Listeriosis	Pericarditis, Miscarriage, Myocarditis, Congestive heart failure, Rhabdomyolysis, Endocarditis, S...	ORPHA:533
Rett Syndrome, Congenital Variant	Tongue thrusting, Irritability, Impaired social interactions, Bruxism, Abnormal repetitive manner...	OMIM:613454
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia	ORPHA:3201
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Metachromatic Leukodystrophy, Adult Form	Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Deme...	ORPHA:309271
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Myopa...	OMIM:614557
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:188
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s...	OMIM:117550
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Short neck, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, ...	ORPHA:1655
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Ventriculomegaly	OMIM:619833
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Dextrocardia	OMIM:277380
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Bradycardia	OMIM:617248
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Patent ductus arteriosus, Knee flexion contracture, Atrial septal defect, Brui...	OMIM:618162
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri...	OMIM:616894
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms	OMIM:617796
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Varicose veins, Arrhythmia	ORPHA:33001
Toriello-Carey Syndrome	Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog...	ORPHA:3338
Snijders Blok-Campeau Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618205
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu...	OMIM:618223
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp...	OMIM:611962
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta	OMIM:617260
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus...	OMIM:130720
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephro...	OMIM:616084
Cerebral Creatine Deficiency Syndrome 1	Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis...	OMIM:300352
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Scapular winging, Patent ductus arteriosus	OMIM:609625
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia	ORPHA:3191
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter...	ORPHA:163979
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect...	OMIM:616364
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Descending aortic ...	ORPHA:558
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc...	ORPHA:99826
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra...	OMIM:313850
Alg12-Cdg	Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertrophy, Prolonge...	ORPHA:79324
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult...	OMIM:608013
Carpenter Syndrome	Patent ductus arteriosus	ORPHA:65759
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus, Patent foramen ovale	OMIM:607143
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve...	OMIM:612289
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Neonatal death, ...	OMIM:269860
Amyloidosis, Hereditary, Transthyretin-Related	Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio...	OMIM:105210
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
Erdheim-Chester Disease	Congestive heart failure, Abnormal aortic valve morphology, Abnormal pericardium morphology	ORPHA:35687
Distal Deletion 10Q	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Facial diplegia	ORPHA:96148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Elevated...	OMIM:277900
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Heart Block, Congenital	Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria...	OMIM:234700
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia	ORPHA:57
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:618736
Holoprosencephaly 5	Hydrocephalus, Lateral ventricle dilatation	OMIM:609637
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis	OMIM:608885
C Syndrome	Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619121
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Emotional ...	ORPHA:309263
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r...	OMIM:619312
Aceruloplasminemia	Congestive heart failure, Torticollis	ORPHA:48818
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms	OMIM:619092
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Patent ductus arterio...	ORPHA:464311
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Achilles tendon contracture, Knee flexion contracture, Patent foramen o...	OMIM:618076
Hydrops Fetalis	Arrhythmia, Capillary leak	ORPHA:1041
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:618430
Ivic Syndrome	Patent ductus arteriosus, Small thenar eminence, Pectoralis major hypoplasia, Tetralogy of Fallot...	OMIM:147750
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:444077
Chops Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret...	OMIM:616368
7Q31 Microdeletion Syndrome	Atrial septal defect, Skeletal muscle atrophy, Torticollis, Patent ductus arteriosus after birth ...	ORPHA:251061
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Pachygyria, Patent foramen ovale	OMIM:613457
Ogden Syndrome	Atrial septal defect, Peripheral pulmonary artery stenosis, Torticollis, Bicuspid aortic valve, L...	OMIM:300855
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macrogyria, Premature ventricular contractio...	OMIM:602535
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:411986
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Third degree atrioventricular block	OMIM:530000
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia	ORPHA:96191
Proximal 16P11.2 Microdeletion Syndrome	Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis...	ORPHA:261197
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Loeys-Dietz Syndrome	Abnormal bleeding, Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus ar...	ORPHA:60030
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Patent ductus arteriosus, Joint contracture	OMIM:618005
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Aggressive behavior, Dysplastic corpus callosum, Tubulointerstitial nephritis, Lateral ventricle ...	ORPHA:488627
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Focal Dermal Hypoplasia	Ventricular septal defect, Telangiectasia of the skin, Congenital diaphragmatic hernia, Diastasis...	ORPHA:2092
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ventriculomegaly, Aspiration pneumonia, Seborrheic dermatitis	OMIM:301072
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Mirage Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Petechiae	OMIM:617053
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:600268
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Self-injurious behavior, Hyperactivity, Lateral ventricle dilatation, Aggressive behavior	OMIM:620075
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheum...	ORPHA:1855
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Short attention span, Delayed early-childhood social milestone development, Impaired social inter...	ORPHA:300570
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus	OMIM:300048
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus, Abnormal cortical gyration	OMIM:300968
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension	ORPHA:159
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms	OMIM:618067
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia	ORPHA:60040
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ar...	ORPHA:2962
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Bohring-Opitz Syndrome	Bradycardia	ORPHA:97297
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia...	ORPHA:158048
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
48,Xxxy Syndrome	Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres...	ORPHA:96263
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology...	ORPHA:904
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention def...	OMIM:619575
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Simplified ...	ORPHA:96121
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia	ORPHA:171876
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:369837
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arter...	ORPHA:2745
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Choking episodes	OMIM:620352
Botulism	Arrhythmia	ORPHA:1267
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
8P11.2 Deletion Syndrome	Atrial septal defect, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse	ORPHA:251066
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Dentici-Novelli Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619877
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol...	ORPHA:1708
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:616602
Rheumatic Fever	Myocarditis, Pericarditis, Epistaxis, Arrhythmia	ORPHA:3099
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus, Abnormal aortic valve morphology	ORPHA:86818
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse	ORPHA:276413
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale	ORPHA:457395
Pallister-Hall Syndrome	Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the...	OMIM:146510
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery ...	OMIM:617913
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul...	ORPHA:100078
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos...	ORPHA:699
Superficial Siderosis	Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Abnormal vertebral artery...	ORPHA:247245
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm...	OMIM:105650
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a...	OMIM:617137
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Sweeney-Cox Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:617746
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Smith-Magenis Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:819
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation...	ORPHA:90348
Foodborne Botulism	Arrhythmia	ORPHA:228371
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch	ORPHA:250989
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse	OMIM:104350
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Cardiomyopathy, Arrhythmia	ORPHA:228305
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus...	OMIM:257920
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Vertebral comp...	OMIM:263700
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Reti...	ORPHA:567
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus...	OMIM:274000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary artery pressure, Thoracic aorti...	OMIM:619351
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neopl...	ORPHA:77293
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Bilateral superior vena ...	OMIM:618460
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformati...	ORPHA:1556
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Choreoacanthocytosis	Compulsive behaviors, Loss of ambulation, Hepatomegaly, Self-mutilation of tongue and lips due to...	ORPHA:2388
Cranioectodermal Dysplasia 2	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypertension, Atrial septal defect, Left ve...	OMIM:613610
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Di...	OMIM:618268
Niemann-Pick Disease Type C	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, J...	ORPHA:646
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep...	ORPHA:476126
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Anorexia, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia,...	ORPHA:1328
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Abnormal repetitive mannerisms	OMIM:610688
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti...	OMIM:135500
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Aggressive be...	OMIM:619244
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Atypical Werner Syndrome	Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebr...	ORPHA:79474
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon...	OMIM:619534
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia	OMIM:614080
Desmosterolosis	Arthrogryposis multiplex congenita, Patent ductus arteriosus, Joint contracture of the hand, Tota...	OMIM:602398
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
9Q33.3Q34.11 Microdeletion Syndrome	Patent ductus arteriosus, Epistaxis, Telangiectasia	ORPHA:495818
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia	ORPHA:226307
Fanconi Anemia, Complementation Group F	Atrial septal defect, Patent ductus arteriosus	OMIM:603467
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter...	ORPHA:464306
Aymé-Gripp Syndrome	Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca...	ORPHA:1272
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Simplified gyral pattern, Abnormal heart mor...	ORPHA:1465
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Death in infancy	OMIM:617156
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Seborrheic dermatitis	OMIM:300868
Ritscher-Schinzel Syndrome 4	Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	OMIM:619435
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure	OMIM:181270
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture	OMIM:225400
Deafness-Craniofacial Syndrome	Patent ductus arteriosus	ORPHA:3241
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Ogden Syndrome	Cardiogenic shock, Arrhythmia	ORPHA:276432
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteri...	ORPHA:261337
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Fanconi Anemia, Complementation Group U	Unilateral facial palsy, Patent ductus arteriosus	OMIM:617247
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch	OMIM:300712
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Abnormal repetitive mannerisms	OMIM:617807
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Arrhythmia	ORPHA:254346
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens...	OMIM:620005
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Lissencephaly, Transposition of ...	OMIM:256520
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical hand wr...	OMIM:619229
Weaver Syndrome	Patent ductus arteriosus, Joint contracture of the hand, Diastasis recti, Camptodactyly	OMIM:277590
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Stroke, Enlarged kidney	OMIM:618188
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h...	OMIM:619475
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat...	ORPHA:319182
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Colpocephaly, Ventriculomegaly, Dysphagia	ORPHA:261250
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Neonatal death, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Death in infancy, Ventricular septal defect, Periventricular heterotopia, Splenomeg...	OMIM:270400
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Camptodactyly, Atrial septal d...	OMIM:300373
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Hajdu-Cheney Syndrome	Hepatomegaly, Mitral stenosis, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus,...	ORPHA:955
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619428
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Vertebral compression fracture, A...	ORPHA:29073
Monosomy 22	Seborrheic dermatitis	ORPHA:96123
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia	ORPHA:397
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Bruising susceptibility, Abnormal heart morphology	OMIM:227646
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis	ORPHA:529962
Fanconi Anemia	Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A...	ORPHA:84
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Fg Syndrome Type 1	Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors	ORPHA:93932
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Miscarriage, Myocarditis, Congestive heart failure, Spl...	ORPHA:3385
Noonan Syndrome 1	Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pul...	OMIM:163950
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353281
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Abnormal temper tantrums, Aggressive b...	ORPHA:457279
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Stillbirth	OMIM:616300
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi...	OMIM:300166
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Splen...	ORPHA:50918
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Nephro...	OMIM:608594
Distal Deletion 12Q	Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa...	ORPHA:96149
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus	ORPHA:2095
Knobloch Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Recurrent otitis media, Lateral ventricle dilatation	OMIM:619995
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Tetralogy o...	OMIM:154400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Total anomalous pulmona...	ORPHA:487796
Turnpenny-Fry Syndrome	Aortic regurgitation, Torticollis, Facial hypotonia, Patent ductus arteriosus, Mitral valve prola...	OMIM:618371
Nmda Receptor Encephalitis	Short attention span, Confusion, Hypersexuality, Depression, Agitation, Memory impairment, Mania,...	ORPHA:217253
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P...	ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Dysplastic corpus callosum, Self-injurious behavior, Lateral ventricle dilat...	ORPHA:544488
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Ctcf-Related Neurodevelopmental Disorder	Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5t...	ORPHA:363611
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Pericarditis, Chilblains, Lateral ventricle dilatation, Self-mutilation	OMIM:619487
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pruritus, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis	ORPHA:83617
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am...	OMIM:616268
Degcags Syndrome	Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Patent ductus ar...	OMIM:619488
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis	ORPHA:276280
Halperin-Birk Syndrome	Pseudobulbar paralysis, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:618651
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A...	OMIM:617140
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
16P11.2P12.2 Microdeletion Syndrome	Arrhythmia, Tricuspid regurgitation	ORPHA:261211
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Aggressive behavior, Lateral ventricle dilatation, Dysphagia, Ventricul...	ORPHA:572798
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi...	OMIM:613355
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness	OMIM:301030
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Erythroderma, Ventriculomegaly	OMIM:308205
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:213980
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum	OMIM:609053
Ivic Syndrome	Arrhythmia	ORPHA:2307
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron...	ORPHA:51608
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Agitation, Dysphagia	ORPHA:2148
Restrictive Dermopathy 1	Atrial septal defect, Limb joint contracture, Patent ductus arteriosus, Flexion contracture, Stil...	OMIM:275210
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, Recurrent ...	ORPHA:397715
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Genetic Recurrent Myoglobinuria	Arrhythmia	ORPHA:99845
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:619869
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Arrhythmia	OMIM:171480
Carpenter Syndrome 2	Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee fle...	OMIM:614976
Congenital Disorder Of Glycosylation, Type Iia	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior	OMIM:212066
Feingold Syndrome	Patent ductus arteriosus	ORPHA:1305
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus art...	ORPHA:1606
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self...	ORPHA:805
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial palsy, Atrioventri...	OMIM:619480
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing	ORPHA:778
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Mitral valve prolapse, ...	OMIM:180849
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular cana...	OMIM:617088
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis,...	OMIM:618278
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo...	ORPHA:500
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:2282
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det...	ORPHA:580
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia	ORPHA:3220
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Arrhythmia	OMIM:619184
Chilton-Okur-Chung Neurodevelopmental Syndrome	Epistaxis, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Cephalohematoma, Patent ...	OMIM:619841
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	ORPHA:818
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353277
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:3047
Agel Amyloidosis	Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Meckel Syndrome, Type 1	Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Abnormal c...	OMIM:249000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Patent foramen ovale	OMIM:300990
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia	ORPHA:2874
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aor...	ORPHA:51
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat...	ORPHA:254892
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Compulsive behaviors, Dysph...	OMIM:615873
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Localized Scleroderma	Raynaud phenomenon, Arrhythmia, Vasculitis	ORPHA:90289
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:619005
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Orofaciodigital Syndrome Xiv	Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Simplified gyra...	OMIM:615948
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Bainbridge-Ropers Syndrome	Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:615485
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Memory impairment, Abnormal social behavior, Aggressive behavior	ORPHA:314647
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture	OMIM:117650
Digeorge Syndrome	Acne, Seborrheic dermatitis, Recurrent pneumonia, Attention deficit hyperactivity disorder, Recur...	OMIM:188400
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Charge Syndrome	Aortic arch aneurysm, Facial palsy, Patent ductus arteriosus, Abnormal cardiac septum morphology,...	ORPHA:138
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, Asc...	ORPHA:1662
X-Linked Intellectual Disability, Armfield Type	Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:85276
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia	ORPHA:157
Acrofacial Dysostosis, Cincinnati Type	Patent ductus arteriosus	OMIM:616462
Carney Complex	Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of the cerebral artery, Stroke...	ORPHA:1359
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Joint contracture of the 5th finger	OMIM:619934
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy	ORPHA:2131
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect, Periventricular heterotopia	ORPHA:434179
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona...	ORPHA:221
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Cardiomyopathy, Arrhythmia, Reduced left ventricular ejection fraction, Pulmonary arterial hypert...	ORPHA:258
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms	ORPHA:2479
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Patent ...	OMIM:214800
Monosomy 22Q13.3	Hyperactivity, Recurrent skin infections, Hair-pulling, Bruxism, Recurrent pyelonephritis, Agenes...	ORPHA:48652
Peters Plus Syndrome	Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ...	ORPHA:709
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Transient ischemic attack, Patent ductus arteriosus after birth at term, Simplified gyral pattern...	ORPHA:500150
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:496641
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting	ORPHA:522077
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Abnormal cortical gyration	ORPHA:480880
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Renovascular hypertension, Hyperten...	ORPHA:3472
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:610954
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Treacher-Collins Syndrome	Patent ductus arteriosus	ORPHA:861
Familial Mediterranean Fever	Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction	ORPHA:342
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Vascular Ehlers-Danlos Syndrome	Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Varicose veins, Ascendi...	ORPHA:286
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Ulnar-Mammary Syndrome	Arrhythmia	ORPHA:3138
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:1675
Coffin-Siris Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	OMIM:135900
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Oculodentodigital Dysplasia	Arrhythmia	ORPHA:2710
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Agenesis of corpus callosum	OMIM:614866
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Periventri...	ORPHA:261552
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con...	OMIM:268300
Knobloch Syndrome 1	Patent ductus arteriosus, Polymicrogyria	OMIM:267750
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Atrial s...	OMIM:261540
Cohen-Gibson Syndrome	Patent ductus arteriosus, Flexion contracture, Camptodactyly	OMIM:617561
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms	ORPHA:508533
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms	OMIM:301040
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf...	ORPHA:363958
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation	OMIM:612301
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Periventricular heterotopia, Patent ductus arterio...	ORPHA:2152
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal arthrogryposis,...	ORPHA:672
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Pagod Syndrome	Arrhythmia, Sudden cardiac death	ORPHA:991
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Oculocerebrorenal Syndrome Of Lowe	Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord...	ORPHA:534
Lacrimoauriculodentodigital Syndrome	Patent ductus arteriosus, Corneal neovascularization	ORPHA:2363
Mend Syndrome	Hyperactivity, Abnormal social behavior, Aggressive behavior	ORPHA:401973
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Attention deficit hyperact...	OMIM:618820
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology...	ORPHA:857
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arrhythmia	ORPHA:163746
Developmental And Epileptic Encephalopathy 100	Abnormal repetitive mannerisms, Dysphagia	OMIM:619777
Oculodentodigital Dysplasia	Arrhythmia	OMIM:164200
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Arrhythmia	ORPHA:800
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, ...	ORPHA:821
Knobloch Syndrome 2	Patent ductus arteriosus	OMIM:618458
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion con...	OMIM:601803
Holoprosencephaly	Arrhythmia	ORPHA:2162
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Amoebiasis Due To Free-Living Amoebae	Arrhythmia	ORPHA:68
Noonan Syndrome	Arrhythmia	ORPHA:648
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur	ORPHA:217085
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:614756
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus	ORPHA:1112
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur	ORPHA:217093
Cockayne Syndrome B	Hypertension, Arrhythmia	OMIM:133540
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitatio...	ORPHA:2556
Cockayne Syndrome A	Hypertension, Arrhythmia	OMIM:216400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms	OMIM:618653
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Hypotonia, Ataxia, And Delayed Development Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:617330
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms	ORPHA:513456
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia	OMIM:250220
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio...	OMIM:210710
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Craniofacial Microsomia 1	Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio...	OMIM:164210
Alström Syndrome	Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy...	ORPHA:64
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Costello Syndrome	Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:218040
Norrie Disease	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:649
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,...	ORPHA:797
Primrose Syndrome	Restlessness, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyperactivity...	OMIM:259050
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Stickler Syndrome	Arrhythmia	ORPHA:828
Ulnar-Mammary Syndrome	Arrhythmia	OMIM:181450
Coffin-Siris Syndrome 12	Abnormal repetitive mannerisms	OMIM:619325
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms	OMIM:194190
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum, Dysphagia	OMIM:606170
Hypermobile Ehlers-Danlos Syndrome	Arrhythmia	ORPHA:285
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal repetitive mannerisms, Dysphagia, Bruxism	ORPHA:261537
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029

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 Cacna1c

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Cacna1c.

No publications found that use IMPC mice or data for Cacna1c.

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MGI Allele	Allele Type	Produced
Cacna1c^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cacna1c^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cacna1c^em1(IMPC)Mbp	Exon Deletion	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: Cacna1c MGI:103013

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E9.5

Gross Morphology Embryo E9.5

Human diseases caused by Cacna1c mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data