banner
Genes Phenotypes Help, News, Blog

Gene: Mto1 MGI:1915541

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mitochondrial tRNA translation optimization 1
Synonyms:
2310039H01Rik,  5730419A02Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Mto1 mutations

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

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

The table below shows human diseases associated to Mto1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Decreased activity of mitochondria... OMIM:614702

The table below shows human diseases predicted to be associated to Mto1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudde... OMIM:310300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
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
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Somatic sensory dysfunction, Inability to walk, Intrinsic hand muscle atrophy, Cardiomyopathy, Pr... ORPHA:63273
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... OMIM:601419
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Decreased activity... OMIM:618235
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... ORPHA:98909
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Congenital Myopathy 24
Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopath... OMIM:617336
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch... OMIM:616500
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98855
Leber Hereditary Optic Neuropathy
Ataxia, Postural tremor, Retinal telangiectasia, Ventricular preexcitation, Myopathy, Arrhythmia,... ORPHA:104
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... OMIM:617182
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Impaired vibration sensation in the lower limbs, Cardiomyopathy, Dif... ORPHA:320360
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Decreased activity of mitochondrial complex IV, Cardiomyopa... OMIM:255100
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98863
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Third degree atrioventricular block ORPHA:480
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Dysphagia, Weakness... OMIM:620265
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Dysphag... OMIM:616276
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... ORPHA:206559
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Bradycardia, Dystonia, Hypertrophic cardiomyopathy, Decreased activity... OMIM:616277
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Atrioventricular block, Bradycardia, Joint contracture of the 5th finger, Truncal ataxi... OMIM:614407
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Depression, Cardiomyopathy, Gait ... OMIM:609286
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... OMIM:300695
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Ataxia OMIM:208750
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Oligozoospermia, Gener... OMIM:602668
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Cln3 Disease
Ataxia, Aggressive behavior, Depression, T-wave inversion, Bradycardia, Shuffling gait, Dysphagia... ORPHA:228346
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Decreased activity of mitochondria... OMIM:614702
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... OMIM:620270
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Cardiomyopathy, Lower limb hypertonia, Progressive gai... ORPHA:1177
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Abnormal mitochondrial morphology, Choreoathetosis, Agitation,... OMIM:300438
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Cardiac arrest, Tremor, Decreased activity of mitochondrial complex IV, Decreased activit... OMIM:618951
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop... OMIM:618815
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Agitation, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex IV,... OMIM:616198
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Cardiomyopathy, Distal amyotrophy, Steppage gait, Impaired d... OMIM:610100
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, ... OMIM:312750
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, Limb dystonia, Arrhyt... OMIM:614860
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Impaired pain sensation OMIM:167400
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Muscular... ORPHA:66634
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Autoimmune Hypoparathyroidism
Prolonged QT interval, Depression, Abnormal left ventricular function, Irritability, Paresthesia,... ORPHA:36913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... OMIM:614302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Broad-based gait, Ataxia, Ragged-red muscle fibers, Unsteady gait, Dysme... OMIM:616479
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Hyperactivity, Facial hypotonia, First degree atrioventricular block, Patent... ORPHA:589821
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Distal sensory impairment, C... ORPHA:399086
Nathalie Syndrome
Arrhythmia ORPHA:2663
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Ataxia, Acute rhabdomyolysis, Cardiac arrest, Oral-pharyngeal dysphagia, Rhabdomyolysis... OMIM:616878
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Gait imbalance, Dy... ORPHA:329336
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Dy... OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Scorpion Envenomation
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Tremor, M... ORPHA:466677
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ... ORPHA:99013
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,... OMIM:613642
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... OMIM:613327
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Depress... ORPHA:352470
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... ORPHA:3208
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly OMIM:609016
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Reduced l... OMIM:614096
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Inability ... ORPHA:268
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Kearns-Sayre Syndrome
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy, Irritability, Dystonia, Decreased activity of mitochondrial comple... OMIM:618237
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Dyspha... OMIM:160900
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Gener... ORPHA:352447
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Distal se... ORPHA:254886
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia, Opisthotonus OMIM:619814
Symmetrical Thalamic Calcifications
Arrhythmia, Failure to thrive, Ataxia ORPHA:1314
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Decreased circulating carnitine ... ORPHA:71212
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Ataxia, Decreased activity of mitochondrial complex IV, Left ventricul... OMIM:615917
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Impaired propriocep... OMIM:229300
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ataxia, Acute rhabdomyolysis, Dysphagia, Arrhythmia, Dystoni... ORPHA:480864
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Decrease... OMIM:252011
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
Distal Myotilinopathy
Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo... ORPHA:98911
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Decreased activ... OMIM:618234
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy OMIM:613158
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Rhabdomyolysis, Ventricular tachycardia, Paresthesia... OMIM:263800
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... OMIM:619903
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... OMIM:310200
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Congestiv... ORPHA:3077
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit... OMIM:300352
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Depression, Syncope, P... OMIM:170390
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Splenomegaly, Chorea, Rhabdomyolysis, Dilated cardiomyopathy, ... OMIM:300842
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly OMIM:618453
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Irritability, Limb tremor OMIM:616647
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Paresthesia, Laryngeal dystonia ORPHA:94090
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Lyme Disease
Arrhythmia, Paresthesia, Atrioventricular block ORPHA:91546
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Opisthotonus, Bradycardia, Decreased activity of mitochondrial complex I... OMIM:619272
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased... OMIM:613561
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Distal sensory impairment, Cardiomyopathy, Global systolic dysfunction, Limb muscle weakness, Nem... OMIM:606842
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Athetosis, Irritability, Gait disturbance, Decreased activity of mitochondrial... OMIM:618241
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia OMIM:310095
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Abnormality of the mitochondrion, Hypertrophic car... ORPHA:91130
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated sk... OMIM:620351
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal sensory impairment, Gait disturbance, Arrhyt... ORPHA:99944
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscula... OMIM:602541
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Shortened PR int... ORPHA:79102
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Dystonia OMIM:619647
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... ORPHA:171439
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Cardiomyopathy, Diffi... ORPHA:401768
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... OMIM:608358
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia OMIM:616299
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia, Depression OMIM:602079
Maternally-Inherited Diabetes And Deafness
Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:225
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Inability to walk, Decreased activity of mitochondrial complex IV, Decreased activity of mitochon... OMIM:617184
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Gait ... ORPHA:157973
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Jaw claudication, Weight loss, Depression, Syncope, Brady... ORPHA:221098
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Gait disturbance, Arrhyth... ORPHA:96
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Combined Oxidative Phosphorylation Deficiency 17
Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:615440
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Mitochondrial ... OMIM:500013
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Gait disturbance, Muscular dystrophy, Generalized a... OMIM:616516
Familial Dyskinesia And Facial Myokymia
Resting tremor, Dystonia, Congestive heart failure, Chorea, Dilated cardiomyopathy, Difficulty wa... ORPHA:324588
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Decreased activity of mitochondri... OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Congestive heart failure, Chorea, Inability to walk, Decreased acti... ORPHA:70472
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Sarcosinemia
Ataxia, Peroneal muscle weakness, Pulmonic stenosis, Emotional lability, Hypertrophic cardiomyopathy ORPHA:3129
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Small for gestational age, Patent ductus arteriosus,... OMIM:617021
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Depression, Progressive cerebellar ataxia, Disinhibition, Gene... ORPHA:275872
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Azo... OMIM:602390
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyo... ORPHA:86812
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Supr... OMIM:300855
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Depression, Irritability, Paresthesia, Laryngeal dystonia ORPHA:94089
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... ORPHA:171433
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the mit... ORPHA:254892
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Waddling gait, Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hyper... ORPHA:34515
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hypertrop... OMIM:618250
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrh... OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Dilated cardiomyopathy, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, I... OMIM:612937
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance ORPHA:34587
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Decreased activity of mitochondrial complex IV, Decreased a... OMIM:212350
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Ataxia, Decreased activity of mitochondrial complex I, Left ventricular ... OMIM:618228
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa... ORPHA:70
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Neuromuscular dyspha... ORPHA:171442
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Dysesthesia, Congestive heart failure, Abnormal tendon morphology, M... ORPHA:85446
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension, Ataxia ORPHA:3222
Infantile Refsum Disease
Hepatomegaly, Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Failure to thrive ORPHA:772
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myopathy, Difficulty walking OMIM:610717
Tetanus
Tachycardia, Tremor, Opisthotonus, Hypertension, Bradycardia, Dysphagia ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrop... ORPHA:276556
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Obesity, Depression, Irritability, Paresthesia, Laryngeal dyst... ORPHA:79444
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Failure to thrive, Myopathy, Dystonia ORPHA:26792
Gitelman Syndrome
Prolonged QT interval, Salt craving, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Lo... ORPHA:358
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Distal sens... OMIM:612954
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Depression, Hypertension OMIM:121300
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Dysphagia, Attention deficit hyperactivity disorder, ... OMIM:620029
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Cap Myopathy
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... ORPHA:171881
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Ataxia, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Atrial... OMIM:249270
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ata... OMIM:619259
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to ... ORPHA:86309
Mucopolysaccharidosis Type 3
Hepatomegaly, Hyperactivity, Ataxia, Cardiomegaly, Aggressive behavior, Hypersexuality, Splenomeg... ORPHA:581
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Bradycardia, Limb hypertonia OMIM:614498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Inability to walk, Flexion contracture, Abnormal left ventricular function, Macrogl... OMIM:613155
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Myopathy, Decreased plasma... ORPHA:42
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
D-Glyceric Aciduria
Patent ductus arteriosus, Tongue thrusting, Opisthotonus, Bradycardia, Failure to thrive OMIM:220120
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... OMIM:615352
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Mitochondrial Complex I Deficiency, Nuclear Type 7
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618229
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrop... ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Decreased activity of mitochond... OMIM:618236
Gaucher Disease Type 2
Hepatomegaly, Dystonia, Cardiac arrest, Splenomegaly, Flexion contracture, Dysphagia ORPHA:77260
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Marshall-Smith Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Pr... OMIM:602535
Glutamine Deficiency, Congenital
Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Mildly reduced left ventricular ejection fraction, Ataxia, Dysmetria, Dysphagia... OMIM:618098
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrop... ORPHA:276580
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Dystonia, Congestive heart failure, Chorea, Dilated cardiomyopathy, Choreoathetos... OMIM:606703
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Leg dystonia, Congenital foot contractures, Tip-toe gait, Bradycardia, Loss of am... ORPHA:565624
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Ataxia, Cardiomyopathy, Decreased circulatin... ORPHA:2394
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Aggressive behavior, Patent ductus arteriosu... ORPHA:529962
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia OMIM:608800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Ataxia, Facial palsy, Irritability, Arrhythmia ORPHA:68
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter OMIM:613752
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... OMIM:619424
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex OMIM:614053
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Obesity, Depression, Choreoathetosis, Hypertension, Irritabili... ORPHA:79443
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Ataxia, Small for gestational age, Decreased activity of mitochondrial c... OMIM:615471
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Endocardial Fibroelastosis
Cryptorchidism, Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Head titubation, Gait ataxia, Truncal ataxia, Arrhythmia, Intention tremor OMIM:620208
Mitochondrial Complex I Deficiency, Nuclear Type 22
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy OMIM:618243
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension,... ORPHA:1349
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Decreas... OMIM:620167
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Large for gestational age ORPHA:226313
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Decreased plasma... ORPHA:228305
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Dystonia, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Arm dystonia... OMIM:601338
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi... OMIM:600430
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... OMIM:620135
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hepatomegaly, Abnormal mitochondrial shape, Aggressive behavior, Patent ... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Decreased activity of mitochondrial complex IV, Decre... OMIM:617713
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, ST segment elevation, Dysmetria, Positive Romberg sign, Gai... ORPHA:94125
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Decreased activity of mitochondrial complex IV, Decreased activity of mitoch... OMIM:618397
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Ataxia OMIM:618683
Atrophoderma Vermiculata
Heart block ORPHA:79100
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Tremor, Congestive heart failure, Splenomegaly,... ORPHA:525731
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Brady... OMIM:617397
Cyclic Vomiting Syndrome
Cardiomyopathy, Attention deficit hyperactivity disorder, Ataxia, Anorexia OMIM:500007
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Bradycardia OMIM:610768
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Anorexia, Myocarditis, Chorea, Aplasia/... ORPHA:3099
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Ataxia, Inability to walk, Dysmetria, Dysphagia, Right bundle branch blo... OMIM:619576
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Decreased activit... OMIM:615418
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Decreased activity of mi... OMIM:616501
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Failure to thrive, Vent... OMIM:610131
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Spontaneous Periodic Hypothermia
Tremor, Arrhythmia, Ataxia, Gait disturbance ORPHA:29822
Necrotizing Enterocolitis
Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotension ORPHA:391673
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Anorexia, Congestive heart failure, Paroxysmal atrial ... ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Choreoathetosis, Cardiomyopathy, Dystonia, Failure to thrive ORPHA:79312
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Opisthotonus, Depression, Proximal limb muscle stiffne... OMIM:184850
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Arrhythmia, Gait disturbance, Camptodactyly of finger ORPHA:2928
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Dysmetria, ... OMIM:617710
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tachycardia, Tremor, Hypoesthesia, Obesity, Lower limb muscle weakness OMIM:619737
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... ORPHA:85443
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Agitati... ORPHA:324575
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Friedreich Ataxia
Hand muscle atrophy, Inability to walk, Chorea, Impaired proprioception, Dysmetria, Gait ataxia, ... ORPHA:95
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat... OMIM:212140
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia ORPHA:95716
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, Myofiber disarray, Decreased activity of mitochondrial complex IV, ... OMIM:604377
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Difficulty wa... ORPHA:119
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Waddling gait, Left ventricular hypertrophy, Left atrial enlargement, Ca... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Ataxia, Tremor, Unsteady gait, Shorten... OMIM:614947
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Cardiac conduction abnormality, Anorexia, Tremor, Oral-pharyngeal dysph... ORPHA:2131
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Irritability, Hypotension,... ORPHA:159
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Neuroleptic Malignant Syndrome
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Chorea, Rhabdomyolysis, Hypertension,... ORPHA:94093
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wav... ORPHA:466650
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Ataxia, Dystonia OMIM:246900
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Ataxia, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopat... OMIM:614299
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Abnormal EKG, Hepatomegaly, Hepatosplenomegaly,... ORPHA:3385
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Abnormal iron deposition in mitochondria, Rhabdomyolysis, Decreased acti... OMIM:255125
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Hepatomegaly OMIM:606069
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Tachycardia, Agitation, Increased body weight ORPHA:276608
Refsum Disease
Skeletal muscle atrophy, Ataxia, Heart block, Splenomegaly, Cardiomyopathy ORPHA:773
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilated car... OMIM:619167
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... ORPHA:99745
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Macroglossia, Bradycardia, Attention deficit hyperactivity disorder, Macroorchidism, ... ORPHA:90674
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Splenomegaly, Cardiomyopathy, Agitation, Failure to thrive OMIM:619046
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Ataxia OMIM:616949
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Dilated cardiomyopathy, G... OMIM:618321
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy ORPHA:98896
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail... ORPHA:1194
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology, Depression, Dysphagia, Loss of ambulation, Emotional labi... ORPHA:79264
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Decreased pyruvate ... OMIM:601992
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Non-Functioning Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Weight loss, Palpitations, Positive regiti... ORPHA:94080
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Leber Optic Atrophy
Postural tremor, Ataxia, Myopathy, Dystonia, Arrhythmia OMIM:535000
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Variegate Porphyria
Tachycardia OMIM:176200
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
16P12.1P12.3 Triplication Syndrome
Nail-biting, Tachycardia, Hyperactivity, Bilateral cryptorchidism, Abnormal heart morphology, Abn... ORPHA:485405
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Dysphagia, Abnormality of mitochondrial metabolism, Choreoathetosis, ... ORPHA:391428
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Mitochondrial Complex I Deficiency, Nuclear Type 35
Decreased activity of mitochondrial complex I, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Facial diplegia... ORPHA:521411
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Dysmetria, Decreased activity of... OMIM:615578
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Broad-based gait, Sinus tachycardia, Contractures of the large joints OMIM:616716
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... OMIM:616866
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Anorexia... ORPHA:3287
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Failure to thrive ORPHA:67048
Isolated Atp Synthase Deficiency
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Arrhythmia, Dystonia, Hypertrophic cardiomyopathy ORPHA:254913
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ... ORPHA:746
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Ataxia-Telangiectasia
Skeletal muscle atrophy, Abnormality of chromosome stability, Telangiectasia of the skin, Ataxia,... ORPHA:100
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Inability to w... ORPHA:26791
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... ORPHA:373
Encephalitis Lethargica
Upper limb muscle weakness, Tremor, Bradycardia ORPHA:83600
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia OMIM:126320
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Myopathy, Dysphagia, Increased variability in muscl... ORPHA:397744
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dysphagia, Intracran... ORPHA:449285
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Decreased activity of mitochondrial complex I, Cardiomyopathy, Failure to thrive, Decreased activ... ORPHA:324525
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Harel-Yoon Syndrome
Ataxia, Inability to walk, Distal amyotrophy, Dystonia, Hypertrophic cardiomyopathy OMIM:617183
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex III, Anorexia, Decreased... OMIM:619386
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Decreased activity of mitochondrial ATP synthase complex, Ankle flexion contracture, Rhabdomyolys... OMIM:618120
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly OMIM:607685
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Dilated cardio... OMIM:164310
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Ataxia, Myopathy, Cardiomyopathy ORPHA:1215
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ge... ORPHA:52430
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral c... ORPHA:1772
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Dysmetria, Cardiomyopathy OMIM:256550
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Cryptorchidism, Mi... OMIM:151100
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Hemochromatosis, Type 2B
Splenomegaly, Cardiomyopathy, Congestive heart failure, Hepatomegaly OMIM:613313
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Loss of ambulation, Failur... OMIM:619518
Melas
Wolff-Parkinson-White syndrome, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, R... ORPHA:550
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Splenomegaly, Bradycardia, Hypotension, Dec... ORPHA:90051
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Unsteady gait OMIM:520000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Decreased activity of mitochondrial ATP synthase complex, Trem... OMIM:614052
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hepatomeg... ORPHA:99827
Hec Syndrome
Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Neck muscle hypertrophy... ORPHA:420492
Gm1 Gangliosidosis
Generalized dystonia, Ventricular septal defect, Camptodactyly of finger, Ataxia, Tremor, Congest... ORPHA:354
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... OMIM:619051
Congenital Sialidosis Type 2
Abnormal EKG, Hepatomegaly, Ataxia, Dysmetria, Telangiectasia, Abnormal heart morphology, Hepatos... ORPHA:93400
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations, Weight loss OMIM:188580
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal... ORPHA:324410
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Irritability, Hypertrophic cardiomyopathy, Failure to thrive, Hepatomegaly ORPHA:369
Lujo Hemorrhagic Fever
Shock, Resting tremor, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia ORPHA:319213
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Ataxia, Large for gestational age OMIM:617757
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cryptorchidism, S... OMIM:617063
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Inability to walk, Bilateral wrist flexion contracture, Congenita... ORPHA:97297
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myop... OMIM:609015
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Decreased plasma free carnitine, Renal tubular epithelia... ORPHA:228308
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia ORPHA:638
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Secundum atrial septal defect, Scissor gait, Dysmetria, Facial diplegia, Att... OMIM:619121
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ataxia, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Chor... ORPHA:255210
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... ORPHA:682
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Right ventricular dila... OMIM:619705
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... ORPHA:565612
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Dilated cardiomyopathy, Ragged-red ... ORPHA:70595
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Large for gestational age, Cryptorchidism, Patent d... OMIM:615355
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Paresthesia, Generalized amyotrophy, Hy... ORPHA:79279
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular... OMIM:201475
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular fun... OMIM:607155
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse ORPHA:230839
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Failure to thrive, Small for gestational age OMIM:260400
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Opisthotonus, Left ventricular hypertrophy, Internal hemo... ORPHA:335
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy, Intention tremor OMIM:619322
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... OMIM:614008
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to... OMIM:201470
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Cardiomyopathy, Ataxia, Hepatomegaly ORPHA:27
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... ORPHA:280365
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation OMIM:261990
Combined Oxidative Phosphorylation Deficiency 5
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:611719
Sandhoff Disease
Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Hepatomeg... OMIM:268800
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ... ORPHA:185
Hydrops Fetalis
Small for gestational age, Pericardial effusion, Capillary leak, Abnormal heart morphology, Arrhy... ORPHA:1041
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia ORPHA:3386
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Gait ataxia, Cardiomyopathy, Loss of ambul... OMIM:620089
Noonan Syndrome 5
Large for gestational age, Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, H... OMIM:611553
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Dysp... ORPHA:258
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Ventricular septal defect, Cryptorchidism, Obesity, Self-inj... ORPHA:254346
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Tremor, Limb ataxia, Cardiomyopathy, Positive Romberg sign, Truncal ataxia,... OMIM:105210
Agel Amyloidosis
Ataxia, Facial palsy, Depression, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to auto... ORPHA:85448
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Rhabdomyolysis, Retina... ORPHA:509
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Rhabdomyolysis, Renal tubular epithelial necrosis, Cardiomyopathy, Myopathy, Decrea... ORPHA:157
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication OMIM:259900
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Dilated cardiomyopathy, Biventricular hypertrophy, Hyper... OMIM:619573
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Tremor, Patent ductus arteriosus, Bradycardia, Dysphagia, Failure to thrive OMIM:617248
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Serotonin Syndrome
Restlessness, Tachycardia, Tremor, Rhabdomyolysis, Hypertension, Irritability, Agitation, Hypoten... ORPHA:43116
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... OMIM:232500
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Hurler-Scheie Syndrome
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly ORPHA:93476
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension ORPHA:767
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Giant Cell Arteritis
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Weight loss, Depress... ORPHA:397
Dystonia-Aphonia Syndrome
Generalized dystonia, Abnormal mitochondrial shape, Unsteady gait, Macroglossia, Gait disturbance... ORPHA:412217
Wolfram Syndrome 1
Ataxia, Tremor, Cardiomyopathy, Dysphagia, Testicular atrophy OMIM:222300
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100080
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Ataxia OMIM:614879
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Opisthotonus OMIM:616896
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomyopathy, Dilated cardiomyopa... OMIM:231530
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachy... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:881
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia ORPHA:90673
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Gait ataxia, Hypertrophic cardiomyopathy, Lower limb amyotrophy, Spastic gait ORPHA:496790
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Aggressive behavior, Tremor, Dysmetria, Dysphagia, Cardiomyopathy, Athetosis, Generalized... ORPHA:572798
Ogden Syndrome
Torticollis, Ventricular septal defect, Cryptorchidism, Shuffling gait, Cardiogenic shock, Arrhyt... ORPHA:276432
Usher Syndrome
Ataxia, Vestibular areflexia, Abnormal cardiovascular system physiology, Depression, Myopathy, Hy... ORPHA:886
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Ragged-red muscle fibers, Dysphagia, Loss of ambulation, Hypertrophic cardiomyopa... OMIM:607426
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Asymmetric septal h... OMIM:252920
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Heart-Hand Syndrome Type 2
Cryptorchidism, Arrhythmia ORPHA:1350
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Combined Oxidative Phosphorylation Deficiency 42
Decreased activity of mitochondrial complex I, Cardiomyopathy, Decreased activity of mitochondria... OMIM:618839
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Arrhythmia, Cardiac arrest ORPHA:168593
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia, Irritability, Joint contracture, Failure to thrive OMIM:616881
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Weight loss, Palpitations, Positive regiti... ORPHA:276621
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... OMIM:300952
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Legionnaires Disease
Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Right bundle branch ... OMIM:617403
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Decrease... ORPHA:506
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss, ... ORPHA:251071
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Anorexia, Aggressive behavior, Dysesthesia, Orchitis, Hypovolem... ORPHA:99826
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Weight loss, Atrial septal defect, Hypertrophic cardiomyo... ORPHA:1842
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion ORPHA:1666
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100082
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Propionic Acidemia
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Dystonia, Failure to thrive, Limb hypertonia OMIM:606054
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Arrhyt... ORPHA:99845
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia, Obesity ORPHA:91355
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615279
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Ataxia, Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increas... ORPHA:98907
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Weight loss OMIM:613239
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Tricuspid regurgitation, Camptodactyly of finger, Impaired pain sensation, Tics, A... ORPHA:261211
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Dystonia ORPHA:79321
Mitochondrial Complex I Deficiency, Nuclear Type 20
Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:611126
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Inability to walk, Flexion contracture, Gait ataxia, Attention deficit hyperactivit... OMIM:619383
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Increased body weight, Agitation ORPHA:263455
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Muscle ... ORPHA:2388
Prune1-Related Neurological Syndrome
Inability to walk, Hypertrophic cardiomyopathy ORPHA:544469
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom... OMIM:614921
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia ORPHA:188
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Hepato... OMIM:615595
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Irritability, Joint contracture, Failure... OMIM:617864
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... ORPHA:309246
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Rig... OMIM:617506
Mercury Poisoning
Tachycardia, Anorexia, Tremor, Hypertension, Hypotension, Dystonia ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Ataxia, Tremor, Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, C... OMIM:610505
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... ORPHA:3426
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture, Decreased activity of the pyruvate dehydrogenase ... OMIM:614462
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave ORPHA:231625
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Acute Intermittent Porphyria
Proximal muscle weakness in upper limbs, Tachycardia, Somatic sensory dysfunction, Restlessness, ... ORPHA:79276
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... ORPHA:365
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive heart failure... ORPHA:231226
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia, Hepatomegaly OMIM:229700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Tremor, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial compl... OMIM:616539
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 40
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Decreased activity of... OMIM:618835
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu... ORPHA:79083
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities OMIM:620326
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Isolated Complex I Deficiency
Hepatomegaly, Ataxia, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy,... ORPHA:2609
Parathyroid Carcinoma
Testicular neoplasm, Shortened QT interval, Weight loss, Dysphagia, Polydipsia ORPHA:143
High Altitude Pulmonary Edema
Tachycardia, Anorexia ORPHA:330012
Neutral Lipid Storage Myopathy
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur... ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Dilated cardiomyopath... OMIM:253800
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Inability to walk, Splenomegaly, Vasculitis, Cardiomyopathy, Dystonia, Self-mutilation OMIM:225750
Beta-Thalassemia
Splenomegaly, Irritability, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:848
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Skeletal muscle steatosis, Gait disturbance, Hypertrophic cardiomyopathy, F... ORPHA:436271
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomegaly OMIM:616651
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale OMIM:614582
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Ataxia, Abnormal mitochondrial shape, Gait ataxia ORPHA:543470
Hereditary Coproporphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia ORPHA:79273
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Weight loss, Palpitations, Positive regiti... ORPHA:29072
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Paresthesia, Depression OMIM:176000
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
Hydroxykynureninuria
Tachycardia, Abnormal repetitive mannerisms, Hypotension ORPHA:79155
Beta-Thalassemia Major
Hepatomegaly, Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive... ORPHA:231214
Tay-Sachs Disease
Skeletal muscle atrophy, Exaggerated startle response, Lower limb muscle weakness, Quadriceps mus... ORPHA:845
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Exaggerated startle response, Multiple joint contractures, Impaired... ORPHA:320406
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Failure to thrive in infancy ORPHA:264675
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90037
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Increased intramyocellular lipid droplets, Truncal ataxia, Weakness of faci... OMIM:220110
Mucopolysaccharidosis Type 2
Hepatomegaly, Hyperactivity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contracture, Hepatosplenomegaly, Irrita... ORPHA:39812
Severe Generalized Junctional Epidermolysis Bullosa
Failure to thrive, Dilated cardiomyopathy, Bradycardia, Renal tubular epithelial necrosis ORPHA:79404
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aggressive behavior, Cryptorchidism, Obesity, M... ORPHA:261494
Stiff Person Spectrum Disorder
Exaggerated startle response, Paraspinal muscle hypertrophy, Falls, Difficulty walking, Emotional... ORPHA:3198
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Failure to thrive, Cerebral ischemia ORPHA:60040
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Depression, Paresthesia, Hypotension, Emotional labilit... ORPHA:428
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Ataxia, Pericardial effusion, Tremor, Flexion contracture, Dysmetria,... OMIM:212065
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Noonan Syndrome 7
Large for gestational age, Impaired oropharyngeal swallow response, Pulmonic stenosis, Dysphagia,... OMIM:613706
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response, Mitral valve prolapse ORPHA:309155
Congenital Generalized Lipodystrophy
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c... ORPHA:528
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Arrhythmia, Weight loss ORPHA:171876
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Mitral valve prolapse, K... OMIM:617402
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Arrhythmia OMIM:616298
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop... OMIM:615895
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Polydipsia, Testicular neoplasm, Dysphagia ORPHA:99880
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia, Small for gestational age OMIM:609152
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypertrophic cardiomyopathy,... OMIM:612938
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatosplenomegaly ORPHA:353298
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Difficulty walking, Dystonia, Decreased activity of mitochondrial complex I, Hypertrophic ... OMIM:618222
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... OMIM:616897
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... ORPHA:79329
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication, F... ORPHA:416
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Pares... ORPHA:727
Congenital Enterovirus Infection
Pericardial effusion, Myocarditis, Cardiomyopathy, Irritability, Hypotension ORPHA:292
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive, Hepatomegaly OMIM:251000
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Macroglossia, Cardiomyo... OMIM:253200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Macroglossia, Bradycardia ORPHA:226307
Costello Syndrome
Ventricular septal defect, Failure to thrive in infancy, Cryptorchidism, Mitral valve prolapse, M... ORPHA:3071
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Heart block, Aplasia/Hypoplasia of the abdomin... ORPHA:175
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Cardiomyopathy, Opisthotonus ORPHA:445038
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Irritability, Hypotension, Arrhythmia, Failu... ORPHA:2135
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ... ORPHA:353281
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Splenome... ORPHA:93473
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Failure to thrive, Muscular dystrophy ORPHA:88618
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation, Limb... OMIM:618056
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:5
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Inability to walk, Flexion contra... ORPHA:505248
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Splenomegaly, Ragged-red muscle fibers, Concentric... OMIM:252010
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale, Oral-pharyngeal dysphagia OMIM:619184
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia OMIM:218700
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Martsolf Syndrome 1
Cryptorchidism, Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly OMIM:619902
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ... ORPHA:221
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Botulism
Arrhythmia, Dysphagia ORPHA:1267
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Patent ductus arter... OMIM:620327
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, S... OMIM:300967
Tularemia
Tachycardia ORPHA:3392
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Broad-based gait, Aggressive behavior, Tongue thrusting, Obesity,... ORPHA:369950
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Hypotension, L... ORPHA:361
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy, Hepatomegaly OMIM:614922
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Raynaud phenomenon, Cryptorchidism, Hyperesthesia, Arrhythmia ORPHA:2874
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Capillary leak, Reduced ... ORPHA:99829
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Cryptorchidism, Mitral valve prolapse, Abnorma... ORPHA:444072
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, D... ORPHA:100924
Foodborne Botulism
Arrhythmia, Dysphagia ORPHA:228371
Porphyria Variegata
Proximal muscle weakness in upper limbs, Tachycardia, Hypertension, Somatic sensory dysfunction ORPHA:79473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus, Ataxia, Large for gestational age OMIM:615398
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Dystonia, Portal hypertension, Action tremor, Splenomegaly, Dysdiadochokinesis, Gai... ORPHA:309854
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Noonan Syndrome 6
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Leiomyosarcoma, Hypertension, Arrhythmia ORPHA:139411
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo... ORPHA:79086
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90033
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abnormal left ven... ORPHA:892
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cardiomyopa... OMIM:605275
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Inability to walk, Flexion contracture, Patent ductus art... OMIM:617303
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Aplasia of the pectoralis maj... ORPHA:3138
Multiple Endocrine Neoplasia Type 1
Anorexia, Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension, Depression ORPHA:652
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... ORPHA:100078
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Tremor, Weight loss,... ORPHA:91347
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Decreased activity of mitochondrial complex III... OMIM:124000
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Dystonia ORPHA:79255
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia, Hepatomegaly ORPHA:348
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Increased b... ORPHA:264580
Wolfram Syndrome
Gastrointestinal hemorrhage, Ataxia, Cardiomyopathy, Myopathy, Polydipsia ORPHA:3463
Noonan Syndrome 4
Ventricular septal defect, Large for gestational age, Cryptorchidism, Pulmonic stenosis, Atrial s... OMIM:610733
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Ataxia, Impaired pain sensation, Hypertension, Gait disturb... ORPHA:1764
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Vici Syndrome
Failure to thrive, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Dy... OMIM:242840
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Dysphagia ORPHA:485421
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo... ORPHA:579
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Irritability, Shoulder flexion contracture, Cachexia, S... ORPHA:800
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology, Cryptorchidism OMIM:217980
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Macrog... OMIM:607014
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Fumarase Deficiency
Mitochondrial swelling, Failure to thrive, Perimembranous ventricular septal defect, Decreased fu... OMIM:606812
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... OMIM:616564
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy, Ataxia OMIM:616084
Vici Syndrome
Cardiomyopathy ORPHA:1493
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Localized Scleroderma
Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy, Arrhythmia ORPHA:90289
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Ataxia, Splenomegaly, Arthrogryposis multiplex congenita, Arrhythmia ORPHA:163746
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia, Emotional lability OMIM:223900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Bicuspid aortic valve, Mitral atresia, Ataxia, Small for gestational age, Tremor, Decre... OMIM:220111
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Defective DNA repair afte... ORPHA:33364
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hyperactivity, Ventricular septal defect, Large for gestational age, Crypto... OMIM:607721
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... OMIM:253220
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Facial hypotonia, Ataxia, Dystonia ORPHA:438216
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis,... OMIM:619745
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Dysphagia, Sinus bradycardia OMIM:619482
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... ORPHA:2331
Cholera
Irritability, Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Distal amyotrophy, Flexion contracture, Exaggerated startle response OMIM:609541
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3220
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615415
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Attention deficit hyperactivity disorder, Cardiac rhabdomyoma OMIM:191100
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Bacterial Toxic-Shock Syndrome
Shock, Myositis, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Pearson Syndrome
Hepatomegaly, Small for gestational age, Ataxia, Cardiac conduction abnormality, Splenomegaly, Ab... ORPHA:699
Hereditary Spherocytosis
Splenomegaly, Restrictive cardiomyopathy, Ataxia, Hepatomegaly ORPHA:822
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Weight loss ORPHA:35858
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... ORPHA:2162
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Weight loss, Hematoche... OMIM:615846
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... OMIM:252500
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy, Small for gestational age OMIM:616051
Oculodentodigital Dysplasia
Ventricular septal defect, Camptodactyly of finger, Ataxia, Gait disturbance, Arrhythmia ORPHA:2710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353277
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Hypoplastic left h... ORPHA:991
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Irritability, Diaphragmatic eventration, Failure to thrive,... OMIM:615574
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Weight loss, Syncope, Hypotension ORPHA:98849
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Cockayne Syndrome A
Hip contracture, Hepatomegaly, Ataxia, Tremor, Cryptorchidism, Splenomegaly, Hypertension, Gait d... OMIM:216400
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia ORPHA:33001
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Ataxia, Joint contracture of the 5th finger OMIM:164200
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Decreased testicular size, Dystonia OMIM:241080
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Anorexia, S... ORPHA:1328
Cockayne Syndrome B
Hepatomegaly, Ataxia, Small for gestational age, Tremor, Cryptorchidism, Splenomegaly, Hypertensi... OMIM:133540
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Weight loss, Cardiomyopathy ORPHA:79430
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Weight loss ORPHA:71273
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Dy... OMIM:617301
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Postinfectious Vasculitis
Cerebral vasculitis, Anorexia, Raynaud phenomenon, Orchitis, Weight loss, Cardiomyopathy, Hyperte... ORPHA:48435
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect, ... ORPHA:769
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Tremor, Hepatosplenomega... ORPHA:51
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Attention deficit hyperactivity disorder, Cardiac rhabdomyoma OMIM:613254
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363958
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re... ORPHA:90324
Noonan Syndrome
Hepatomegaly, Abnormal pulmonary valve morphology, Cryptorchidism, Aplasia/Hypoplasia of the abdo... ORPHA:648
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Contractures of the large joints, Dystonia, Impaired oropharyngeal ... ORPHA:521426
Toriello-Carey Syndrome
Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pul... ORPHA:3338
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Contractures of the large joints, Dysphagia, Failure to thrive, Hyp... OMIM:617527
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Failure to thrive OMIM:618329
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Tongue thrusting, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopa... OMIM:115150
Plague
Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Unsteady gait, Endocarditis, Depr... ORPHA:707
Noonan Syndrome 3
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... OMIM:609942
Ivic Syndrome
Arrhythmia ORPHA:2307
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Decreased testicular size, Dystonia ORPHA:3464
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Dysmetria, Compulsive behavio... ORPHA:904
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Vasculitis, Arrhythmia ORPHA:342
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia... OMIM:130650
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Mirizzi Syndrome
Tachycardia, Anorexia ORPHA:521219
Oculoectodermal Syndrome
Hyperactivity, Transient ischemic attack, Patent ductus arteriosus, Atrial septal defect, Hypertr... OMIM:600268
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Failure to thrive in infancy, Cryptorchidism, Pulmonic stenosis,... ORPHA:1340
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Failure to thrive, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, ... OMIM:256040
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Ataxia ORPHA:31
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypertrophic cardiomyopathy OMIM:613673
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Arrhyt... ORPHA:1519
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Self... OMIM:270400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:438213
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... OMIM:218040
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Cardiomyopathy, Polyphagia OMIM:608594
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Dystonia OMIM:272750
Rh Deficiency Syndrome
Tachycardia, Hepatosplenomegaly ORPHA:71275
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive c... ORPHA:369837
Degcags Syndrome
Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestational age, Oral-pharyngeal ... OMIM:619488
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo... ORPHA:797
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Fanconi Anemia
Abnormality of chromosome stability, Cryptorchidism, Patent ductus arteriosus, Weight loss, Azoos... ORPHA:84
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diast... OMIM:312870
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert... OMIM:269700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... ORPHA:363700
Castleman Disease
Restrictive cardiomyopathy, Weight loss ORPHA:160
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Fai... OMIM:276700
Acromegaly
Depression, Macroglossia, Hypertension, Mitral regurgitation, Paresthesia, Hypertrophic cardiomyo... ORPHA:963
Somatomammotropinoma
Depression, Macroglossia, Hypertension, Mitral regurgitation, Paresthesia, Hypertrophic cardiomyo... ORPHA:314769
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... OMIM:607872
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Zimmermann-Laband Syndrome 1
Splenomegaly, Cardiomyopathy, Patent ductus arteriosus, Hepatomegaly OMIM:135500
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Cardiomyopath... ORPHA:3472
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Depression, Paresthesia, Arrhythmia, Tendon... ORPHA:285
Stickler Syndrome
Skeletal muscle atrophy, Cachexia, Mitral valve prolapse, Macroglossia, Arrhythmia, Slender build ORPHA:828
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, L... ORPHA:116
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Leprechaunism
Hepatomegaly, Skeletal muscle atrophy, Enlarged ovaries, Decreased body weight, Hypertrophic card... ORPHA:508
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect, Obesity OMIM:181450
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Noonan Syndrome 1
Ventricular septal defect, Failure to thrive in infancy, Cryptorchidism, Patent ductus arteriosus... OMIM:163950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus... OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Yunis-Varon Syndrome
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Cryptorchidis... OMIM:216340
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Difficulty walking ORPHA:480880
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog... ORPHA:97685
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Ataxia, Pericardial effusion, Intracr... ORPHA:79318
Pallister-Killian Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Inability to walk, Cryptorchidism, Fl... OMIM:601803

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 Mto1

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 Mto1.

No publications found that use IMPC mice or data for Mto1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mto1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mto1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter