Gene: Cacna1c MGI:103013

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Gene Summary

Name:
calcium channel, voltage-dependent, L type, alpha 1C subunit
Synonyms:
(alpha)1 subunit,  Cchl1a1,  Cav1.2,  L-type Cav1.2,  D930026N18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small liver Cacna1cem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Cacna1cem1(IMPC)Mbp HET Early adult 0.00
small kidney Cacna1cem1(IMPC)Mbp HET Early adult 0.00
increased freezing behavior Cacna1cem1(IMPC)Mbp HET Early adult 4.48×10-06
enlarged spleen Cacna1cem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Cacna1cem1(IMPC)Mbp HOM   Early adult 0.00
abnormal spleen morphology Cacna1cem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Cacna1cem1(IMPC)Mbp HET E15.5 0.00
abnormal liver morphology Cacna1cem1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Persistent Idiopathic Facial Pain
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
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
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Nathalie Syndrome
Arrhythmia ORPHA:2663
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... OMIM:605362
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Right ventricular hypertrophy, Hypertension OMIM:268500
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Autism
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608636
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:265400
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, General... ORPHA:324604
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... OMIM:178600
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Stereotypy OMIM:606053
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Mi... OMIM:618709
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Death in adolescence, Ventricular tachycardia, Congestive heart failur... OMIM:605676
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Internal hemorrhage, Tachycardia, Right ventricula... ORPHA:335
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, S... OMIM:617862
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Aggressive behavior, Abnormality of extrapyramidal motor function, Apathy, Ab... ORPHA:275864
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Congestive heart failure, Cardiomegaly, Atrial flutter OMIM:300886
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Left atrial enlargement, Congestive heart failure, Atrial fibrillation OMIM:617047
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Trimethylaminuria
Depression, Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Vascular dilatation, Pulmonic valve myxoma, Congestive h... ORPHA:615
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Pick Disease Of Brain
Emotional blunting, Apathy, Diminished motivation, Frontotemporal dementia, Irritability, Stereotypy OMIM:172700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Right ventricular hypertrophy, Patent ductus arteriosus, Hyperte... OMIM:613623
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Cherry red spot of the macula, Splenomegaly ORPHA:796
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Huntington Disease-Like 2
Dystonia, Depression, Chorea, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior OMIM:618221
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... OMIM:613426
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Pandas
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... ORPHA:66624
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Apathy, Frontotemporal dementia, Emotional lability, Babinski sign, Stereotypy, Spasticity OMIM:612069
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Inflammato... ORPHA:79147
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Coproporphyria, Hereditary
Depression, Hepatomegaly, Jaundice, Anxiety, Splenomegaly, Increased urinary porphobilinogen, Ele... OMIM:121300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Br... OMIM:619048
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Abnormality of neuronal migration, Patent ductus arteriosus, Gray matter h... OMIM:300049
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Aggressive behavior, Apathy, Frontotemporal dementia, Myoclonus, Stereotypy, Babinski sign, Memor... OMIM:600795
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Huntington Disease-Like 1
Aggressive behavior, Depression, Chorea, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... ORPHA:79094
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal d... OMIM:208085
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Flexion contracture, Death in infancy, Congestive heart failure, Skeletal muscle atro... ORPHA:157973
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Chronic Actinic Dermatitis
Pruritus, Allergic rhinitis, Erythroderma, Eczema, Late onset atopic dermatitis ORPHA:330064
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Gastrointestinal hemorrhage, Abnormal tricuspid va... ORPHA:90308
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Hypertrophic cardiomyopathy OMIM:300696
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Periventricular Nodular Heterotopia
Abnormal bleeding, Aortic regurgitation, Periventricular heterotopia, Abnormal heart valve morpho... ORPHA:98892
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Self-injurious behavior, Hyperkinetic ... ORPHA:397933
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Cardiomyopathy, Splenomegaly OMIM:613313
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Muscular dystrophy,... ORPHA:300751
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Polymicrogyria, Cortical d... OMIM:615282
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Bronchopulmonary Dysplasia
Right ventricular hypertrophy, Right ventricular failure ORPHA:70589
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Smith-Magenis syndrome
Self-mutilation, Stereotypy DECIPHER:8
Hemochromatosis, Type 2A
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiom... OMIM:602390
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular septal defect OMIM:617021
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy ORPHA:53296
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Death in childhood, Cardiomegaly, Splenomegaly OMIM:269920
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Prolonged QT interval, Cardiomegaly, Patent ... OMIM:601005
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Variegate Porphyria
Tachycardia OMIM:176200
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Chest pain, Pericardial effusion, Left bundle... OMIM:115197
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Stereotypy OMIM:614063
Pityriasis Rubra Pilaris
Pruritus, Erythroderma, Pustule, Eczema ORPHA:2897
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Premature coronary artery atherosclerosis, Hyper... OMIM:615703
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic stenosis, Aortic valv... OMIM:615382
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Ri... OMIM:267010
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:609040
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Dilated card... OMIM:302060
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Stereotypy, Spasticity OMIM:617393
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Lissencephaly, Ventricular sep... OMIM:613404
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Death in infancy, Patent duct... OMIM:618845
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Palpitations, Scapular winging, Proximal muscle weakness in lower l... ORPHA:206569
Farber Lipogranulomatosis
Hepatomegaly, Irritability, Lipogranulomatosis, Splenomegaly OMIM:228000
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation ORPHA:104
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Paroxysmal dyskinesia, Poor coordination, Ventriculomegaly, Ataxia, Stereotypy, Microcephaly OMIM:619150
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Coronary artery calcification, Hypertension OMIM:614473
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Illum Syndrome
Bradycardia OMIM:208155
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:614261
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Jaundic... OMIM:616278
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... ORPHA:90065
Dystonia 23
Arrhythmia OMIM:614860
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Alopecia-Mental Retardation Syndrome 4
Erythroderma, Hypoplasia of the corpus callosum, Microcephaly OMIM:618840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Arrhythmia, Flexion contracture, Abnormal aortic valve morphology, Death... ORPHA:1194
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Dementia, Abnormal social behavior, Hypertonia, Oculomotor apraxia, Ataxia, Semantic dem... ORPHA:1020
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Arterial Calcification, Generalized, Of Infancy, 1
Generalized arterial calcification, Hypertension, Myocardial infarction, Congestive heart failure... OMIM:208000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cednik Syndrome
Polymicrogyria, Congestive heart failure, Pachygyria ORPHA:66631
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Congestive heart failure, Splenomegaly,... ORPHA:2414
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon ... ORPHA:85446
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Baker-Gordon Syndrome
Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, Chore... OMIM:618218
Foxg1 Syndrome
Impaired social interactions, Poor eye contact, Hyperkinetic movements, Stereotypical hand wringi... ORPHA:561854
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613736
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Fraxe Intellectual Disability
Recurrent hand flapping, Clumsiness, Aggressive behavior, Stereotypical body rocking ORPHA:100973
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Hypoplasia of the corpus callosum, Lower limb spasticity, Spastic... ORPHA:401815
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Spastic diplegia, Stereotypy OMIM:617830
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Fatigue, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ... ORPHA:422
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Muscular dystrophy, Flexion contracture, Congestive heart failure, Calf... OMIM:310200
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkins... OMIM:300257
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Mitral regurgitation, Abnormal atrioventricular valve morphology, Tricuspid regur... ORPHA:324410
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Hypertonia, Cerebral atrophy, Ataxia, Microcephaly OMIM:609180
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypop... ORPHA:300573
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope OMIM:616812
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Patent ductus a... OMIM:616867
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Hyperprolinemia, Type I
Stereotypy, Aggressive behavior, Ataxia OMIM:239500
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertr... ORPHA:1349
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Secundum atrial septal defect, Flexi... OMIM:616866
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericardial constriction OMIM:253250
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... ORPHA:101071
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Patent ductus arteriosus, Hepatomegaly, Polymicrogyria, Cerebral hemorrh... OMIM:617397
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly, Irritability, Nephrotic syndrome OMIM:615846
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:615355
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Camptodactyly, Patent ductus arteriosus, Joint contracture of the hand OMIM:211930
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Stereotypy, Progressive language deter... OMIM:610042
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Hepatomegaly, Cardio... OMIM:600649
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Impaired social interactions, Poor eye contact... ORPHA:3095
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Mitral regurgitation, P... OMIM:612561
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Type 1 muscle fiber predominance, Type 2 muscle fiber atr... ORPHA:98915
Atransferrinemia
Congestive heart failure OMIM:209300
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Stereotypical hand wringing, Microcephaly, Sp... ORPHA:500545
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical hemiatrophy, Dilation of later... ORPHA:306669
Babesiosis
Hemolytic anemia, Depression, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly,... ORPHA:108
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Ichthyosis With Confetti
Erythroderma OMIM:609165
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... ORPHA:2847
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy OMIM:613670
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Autoimmune Lymphoproliferative Syndrome, Type Iii