Gene Summary

Name:
zinc finger, DHHC domain containing 16
Synonyms:
Ablphilin 2,  APH2,  Abl-philin 2,  1500015N03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zdhhc16 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zdhhc16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Gait imbalance, Weakness of facial musculature, Hip flex... ORPHA:63273
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Intrauterine growth retardation, Bradycardia, Patent duct... OMIM:616276
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Death in infancy, Br... OMIM:618815
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Alpha-B Crystallin-Related Late-Onset Myopathy
Dysphagia, Autophagic vacuoles, Facial diplegia, Posterior capsular cataract, EMG: myopathic abno... ORPHA:399058
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Ataxia, Deafness, And Cardiomyopathy
Ataxia, Cardiomyopathy OMIM:208750
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... ORPHA:98912
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy, Cataract OMIM:225740
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Leg muscle stiffness, Distal lower limb muscle weakness, Difficulty walking, Supr... ORPHA:320360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Dysphagia, Supraventricular tachycardia, Cardiomyopathy, Fatty replacement of skeletal ... OMIM:255100
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia OMIM:300696
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Cardiomyopathy, Waddling gait, Scapular winging, Nemaline bodies OMIM:617336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Dysphagia, Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnor... OMIM:609286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Developmental cataract, Macroglossia, Retinal dystrophy, Facial palsy, Cardiomyopathy, Congenital... OMIM:613155
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Dystonia, Intrauterine growth retardation, Bradycardia OMIM:614654
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Distal Myotilinopathy
Abnormal muscle fiber myotilin, Cardiomyopathy, EMG: myopathic abnormalities, Distal amyotrophy, ... ORPHA:98911
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... OMIM:618782
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... OMIM:181350
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... OMIM:619048
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... OMIM:619402
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... OMIM:608810
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Death in infancy, Bradycardia, Cataract OMIM:617248
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia OMIM:614302
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Pigmentary retinopathy OMIM:609016
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Keratoconus, Patent foramen ovale, ... ORPHA:542306
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Death in infancy, Intrauterine growth retardation, Cataract OMIM:616647
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, EMG: myopa... ORPHA:263297
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Macular dystrophy, Ataxia, Congestive heart failure, C... ORPHA:225
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Dysphagia, Facial palsy,... ORPHA:254886
Lipoyltransferase 1 Deficiency
Dystonia, Death in infancy, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... OMIM:212138
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Gait disturbance, Ragged-red muscle fibers, Faci... OMIM:160500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... OMIM:611369
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Muscular dystrophy, Flexion contracture, Limb-girdle muscle weakness, Difficulty ... OMIM:609308
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, B... ORPHA:171442
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Cardiomyopathy, Distal amyotrophy OMIM:610100
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy OMIM:612999
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Dysphagia, Skeletal muscle atrophy, Gait imbalance, Weakness of facial musculature, Limb muscle w... ORPHA:329336
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... ORPHA:34515
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Dilated cardiomyopathy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Optic atrophy, Myopathy, Intrauterine growth retardation, Cardiomyopathy, Lethargy ORPHA:26792
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Death in infancy, Bradycardia, Flexion contracture OMIM:614498
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance ORPHA:34587
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Dystonia, Difficulty walking OMIM:618222
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Bradykinesia, Ataxia, Death in childhood, Lethargy OMIM:618683
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... ORPHA:75566
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Intrauterine growth retardation, Arrhythmia, Cardiomyopathy OMIM:616198
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Dysphagia, Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, ... OMIM:258450
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy,... OMIM:612937
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Death in infancy OMIM:618235
Refsum Disease, Classic
Retinal degeneration, Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Ata... OMIM:266500
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... OMIM:616812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cataract, Cardiomyopathy OMIM:615352
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure, Retinopathy OMIM:618234
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture, Lethargy OMIM:201470
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy, Cataract, Corneal dystrophy ORPHA:1369
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Microcephaly 13, Primary, Autosomal Recessive
Intrauterine growth retardation, Cardiomyopathy OMIM:616051
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... OMIM:261740
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613874
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Ataxia, Cataract, Rod-cone dystrophy OMIM:614879
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Umbilical hernia, Lethargy ORPHA:95717
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation OMIM:613690
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Difficulty walking, Cardiomyopathy OMIM:610717
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness OMIM:606842
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, Myopathy, Gait disturbance, Intrauterine growth retardatio... ORPHA:272
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Retinal degeneration, Situs inversus totalis, Cardiomyo... OMIM:249270
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Conotruncal defect, Atrioventricular canal defect, Bradycard... ORPHA:40366
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Amyloidosis, Finnish Type
Cardiac amyloidosis, Lattice corneal dystrophy, Cardiomyopathy OMIM:105120
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Intrauterine growth retardation, Cardiomyopathy, Flexion contracture OMIM:608540
Myopathy, Myofibrillar, 4
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... OMIM:609452
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration, ... OMIM:204200
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Waddling gait, Calf muscle hypertrophy, ... ORPHA:119
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Proximal Spinal Muscular Atrophy
Dysphagia, Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Facial dipl... ORPHA:70
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Retinal degeneration, Cardiomyopathy, Pigmentary retinopathy OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Optic atrophy, Lethargy OMIM:618228
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Desminopathy
Concentric hypertrophic cardiomyopathy, Weakness of facial musculature, Atrioventricular block, L... ORPHA:98909
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopath... OMIM:619424
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Abnormality of retinal pigmentation, Intrauterine growth retardation, Ven... ORPHA:2515
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Cataract OMIM:617228
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Cen... OMIM:611705
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... OMIM:614954
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Arrhythmia, Lethargy OMIM:602390
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Arrhythmia OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia, Flexion contracture, Camptodactyly OMIM:610015
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Intrauterine growth retardation, Cardiomyopathy OMIM:619003
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Death in adolescence,... OMIM:605676
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Atrioventricular block, Bradycardia, Truncal ataxia, Joint contracture of the 5th finger OMIM:614407
Infantile Refsum Disease
Optic atrophy, Facial palsy, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Cataract, Arrhythmia ORPHA:772
Sarcosinemia
Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis, Ataxia, Peroneal muscle weakness ORPHA:3129
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Inability to walk OMIM:617184
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, ... OMIM:612954
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Lethargy ORPHA:254857
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Optic atrophy, Prolonged QT interval, Noncompaction cardiomyopathy, Intra... OMIM:610198
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy... OMIM:602541
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Waddling gait, Congestive heart failu... OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Optic atrophy, Myopathy, Dystonia, Intrauterine growth retardation, ... OMIM:618237
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Death in infancy, Ataxia, Let... OMIM:614299
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Atrioventricular block, Ven... OMIM:115197
Attrv30M Amyloidosis
Vitreous floaters, Atrioventricular block, Cardiomegaly, Cardiomyopathy, Arrhythmia ORPHA:85447
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Skeletal myopathy, Endocar... OMIM:302060
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Gait disturbance, Abnormality of retinal pigmentation, Dystonia, Ske... ORPHA:96
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... ORPHA:263494
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... ORPHA:2041
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... OMIM:613243
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98855
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Dilated cardiomyopathy, Skeletal muscle atrophy, Macroglossia, Muscular dystro... OMIM:616827
Nemaline Myopathy 3
Dilated cardiomyopathy, Dysphagia, Limb muscle weakness, Facial palsy, EMG: myopathic abnormaliti... OMIM:161800
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Death in infancy OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Intrauterine growth retardation OMIM:618243
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Cardiomyopathy, Waddling gait, Calf muscle hypertrophy, Flexion contracture ORPHA:98896
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Skeletal muscle hypertrophy, Abnormality iris morphology, Macroglossia, Optic nerv... ORPHA:370959
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Myopathy, Temporal optic disc pallor, Cardiomyopathy, Ataxia, Abnormal retinal ner... ORPHA:1215
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Astigmatism OMIM:617713
Hec Syndrome
Developmental cataract, Endocardial fibroelastosis, Cardiomyopathy, Abnormal pupil morphology, Ab... ORPHA:2119
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Lethargy ORPHA:276556
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Optic atrophy, Myopathy OMIM:618236
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Iris hypopigmentation, Cataract ORPHA:67048
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... OMIM:300257
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Sengers Syndrome
Hypertrophic cardiomyopathy, Developmental cataract, Myopathy OMIM:212350
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Pigmentary retinopathy, Skeletal muscle atrophy, Noncompaction cardi... ORPHA:3208
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Retinal detachment, Corneal opacity, Cataract, ... OMIM:613153
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Death in infancy, Reduced ejection fraction, Mitral regurgitation, Pulmon... OMIM:619371
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Patent ductus arteriosus, Lethargy OMIM:617397
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Limb hypertonia, Intrauterine growth retardation, Bradycardia, Loss of ability... ORPHA:565624
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Lethargy ORPHA:276575
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy ORPHA:391673
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Cardiomyopathy, Waddling g... ORPHA:52430
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia, Umbilical hernia, Lethargy ORPHA:95716
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Dystonia, Optic disc pallor, Mitral regurgitation, Neonatal death, Left v... OMIM:619167
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Death in infancy, Restrictive cardiomyopathy, Tricuspid regurgitation, P... OMIM:619433
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Death in infancy OMIM:604377
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Congestive heart failure, Difficulty walking, ... ORPHA:324588
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Lethargy ORPHA:276580
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular septal defect, Dystonia, Progressive cere... ORPHA:255241
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618229
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Retinal degeneration, Rod-cone dystrophy, Atrial s... OMIM:615981
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on ... OMIM:145350
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dystonia, Ataxia, Lethargy OMIM:246900
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Cataract OMIM:606069
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Gait... ORPHA:1349
Glycogen Storage Disease Iii
Ventricular hypertrophy, Myopathy, Cardiomyopathy, Distal amyotrophy OMIM:232400
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Cyclic Vomiting Syndrome
Ataxia, Attention deficit hyperactivity disorder, Cardiomyopathy, Lethargy OMIM:500007
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Congestive heart failure, Facial myokymia OMIM:606703
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Death in infancy, Intrauterine growth retardation, Abnormal aortic v... ORPHA:1194
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Joint... OMIM:300280
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Gait disturbance, Myopathy, Skeletal muscle atrophy ORPHA:262
Tetanus
Hypertension, Dysphagia, Bradycardia, Tachycardia ORPHA:3299
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Reduced muscle c... OMIM:212140
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Abnormal heart morphology, Ataxia, Inability to walk, Gen... ORPHA:70472
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Gait disturbance, Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Ataxia, Cong... OMIM:619259
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Ventricular septal defect, Abnormality of blood circulation, Biventricular ... ORPHA:860
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Retinal hemorrhage, Renovascular hypertension, Angioid strea... OMIM:264800
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Optic atrophy, Dystonia, Limb hypertonia, Skeletal muscle atrophy, Intrauterine growth... OMIM:617710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Lipodystrophy, Congenital Generalized, Type 4
Dysphagia, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation, Tachycardia, ... OMIM:613327
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Bohring-Opitz Syndrome
Optic atrophy, Intrauterine growth retardation, Facial hypotonia, Bradycardia, Cardiomegaly, Inab... ORPHA:97297
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Corneal opacity, Cardiomyopathy ORPHA:93476
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... ORPHA:746
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Cataract ORPHA:3173
Illum Syndrome
Calcinosis, Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Abnormal aortic valve... ORPHA:3287
Gm1 Gangliosidosis
Optic atrophy, Aplasia/Hypoplasia of the abdominal wall musculature, Retinopathy of prematurity, ... ORPHA:354
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Intrauterine growth retardation ORPHA:295
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Umbilical hernia ORPHA:226313
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Tachycardia, Flexion contracture OMIM:614653
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Congenital muscular dystrophy, Coloboma, Ocular anteri... ORPHA:324416
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Dysphagia, Skeletal muscle atrophy, Tachycardia, Glycogen accumulati... ORPHA:368
Refsum Disease
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cardiomyopathy, Heart block, Ataxia... ORPHA:773
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Dysphagia, Generalized amyotrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Patent duc... OMIM:616866
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... ORPHA:1329
Familial Cutaneous Collagenoma
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris ORPHA:53296
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Dysphagia, Weakness of facial muscula... ORPHA:352447
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor OMIM:612989
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Lethargy ORPHA:156
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Cardiomyopathy, Ataxia, Pigmentary... OMIM:530000
Neuraminidase Deficiency
Skeletal muscle atrophy, Cherry red spot of the macula, Dysmetria, Cardiomegaly, Cardiomyopathy, ... OMIM:256550
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:618378
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Ataxia, Inability to walk, Distal amyotrophy OMIM:617183
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Gait distu... ORPHA:732
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Degenerative vitreore... OMIM:607598
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Iris atrophy, Vasculitis, Congestiv... OMIM:115250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture,... OMIM:607155
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Retinal degeneration OMIM:616896
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Optic nerve hypoplasia, Spastic gait, Corneal opacity... ORPHA:496790
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Skeletal muscle atrophy, Facial diplegia, Neonatal death, Arthrogryposis multiplex cong... OMIM:611890
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration OMIM:300438
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular hypertrophy, Pulmonary ... OMIM:619051
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus OMIM:126320
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Optic atrophy, Gait disturbance, Dystonia, Ventricular tachycardia, ... OMIM:616878
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... ORPHA:75249
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Akinesia, Increased variabi... OMIM:619334
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Dysphagia, Pulmonic stenosis ORPHA:638
Friedreich Ataxia
Optic atrophy, Dysphagia, Dystonia, Gait imbalance, Dysmetria, Falls, Cardiomyopathy, Inability t... ORPHA:95
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Microcornea, Macular atrophy OMIM:602499
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Peters anomaly, Tricuspid regurgitation, Patent ductus a... OMIM:618652
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture OMIM:616549
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Optic atrophy, Cardiomyopathy, Lethargy ORPHA:79312
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Gait imbalance, Lethargy OMIM:618120
Alg3-Cdg
Dystonia, Neural tube defect, Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, C... ORPHA:79321
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis OMIM:300842
Juvenile Neuronal Ceroid Lipofuscinosis
Dysphagia, Optic disc pallor, Retinal degeneration, Abnormal heart morphology, Tachycardia, Loss ... ORPHA:79264
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Death in infancy, Cardiomyopathy, Cataract, A... ORPHA:1493
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Death in infancy, Ebstein anomaly of the tricuspid valve, Death in childh... OMIM:619492
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Flexion contracture OMIM:614462
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Death in infancy, Lethargy OMIM:619386
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Ataxia, Cardiomyopathy, Lethargy ORPHA:2394
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Syncope, Jaw claudication, Bradycardia ORPHA:221098
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Intrauterine growth retardation, Cardiomyopathy OMIM:618839
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Dysphagia, Dystonia, Retinal degeneration, Cardiomega... ORPHA:391428
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Ataxia, Cardiomyopathy, Lethargy ORPHA:27
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Skeletal myopathy, Coronary artery stenosis, Palpitations, Low-ou... ORPHA:565612
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Telangiectasia, Optic atrophy, Telangiectasia of the skin, Generaliz... ORPHA:79279
Neuroleptic Malignant Syndrome
Hypertension, Dysphagia, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Oculo... ORPHA:94093
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Dysphagia, Generalized amyotrophy OMIM:613561
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Death in infancy, Reduced ejection fraction, Cardiomegaly, Sudden ca... OMIM:201475
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Cataract, Broad-based gait OMIM:618805
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Death in infancy, Cardiomyopathy OMIM:619046
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Death in infancy OMIM:611719
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... ORPHA:75565
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia, Lethargy ORPHA:83600
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... OMIM:615415
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Umbilical hernia, Lethargy ORPHA:90673
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia ORPHA:228305
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:615382
Wolfram Syndrome 1
Optic atrophy, Dysphagia, Cardiomyopathy, Ataxia, Pigmentary retinopathy OMIM:222300
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Pa... ORPHA:1686
Lujo Hemorrhagic Fever
Myocarditis, Shock, Dysphagia, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Roifman Syndrome
Ventricular septal defect, Intrauterine growth retardation, Noncompaction cardiomyopathy, Hip con... OMIM:616651
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly, Lethargy OMIM:600649
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy, Amyloid depos... OMIM:105210
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Neonatal death, Retinal atrophy, Rod-cone dystrophy OMIM:610127
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Optic atrophy, Gait disturbance, Athetosis, Inability to walk OMIM:618241
Multiple Acyl-Coa Dehydrogenase Deficiency
Dysphagia, Skeletal muscle atrophy, Abnormal heart morphology, Increased intramyocellular lipid d... ORPHA:26791
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Death in infancy, Cardiomyopathy, Ataxia, Lethargy OMIM:618321
Snakebite Envenomation
Intracranial hemorrhage, Pseudobulbar paralysis, Epistaxis, Tachycardia, Cerebral ischemia, Cardi... ORPHA:449285
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract OMIM:273680
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Death in infancy, Cardiomyopathy, Lethargy OMIM:614922
Histiocytoid Cardiomyopathy
Optic atrophy, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Congenita... ORPHA:137675
Friedreich Ataxia
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Ataxia, Congestive heart fai... OMIM:229300
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Intrauterine growth retardation, Double outlet right ventricle, Pulmon... OMIM:220210
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy, Intrauterine growth retardation OMIM:618835
Agel Amyloidosis
Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Facial palsy, C... ORPHA:85448
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Dysphagia, Limb hypertonia, Intrauterine growth retardation, Dysmetria, Generalized am... ORPHA:572798
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Congestive heart failure, Pigmentary retinopathy, Rhabdomyolysi... OMIM:609015
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tachycardia, Patent ductus arteriosus, Atrial septal def... OMIM:613870
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... ORPHA:444013
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ataxia, Ragged-red muscle fibers, Rod-cone dystrophy OMIM:607426
Hemochromatosis, Type 1
Telangiectasia, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:235200
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Ventricular tachycardia, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Hypotension ORPHA:159
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Ataxia OMIM:617757
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Proximal muscle weakness in upper limbs, Cataract, Dilatation of the ventricular ... ORPHA:363623
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia, Attention deficit hyperactivity disorder, Umbilical hernia, Lethargy ORPHA:90674
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor, Cardiomyopathy OMIM:618437
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy OMIM:613673
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Optic neuropathy, Optic atrophy, ... OMIM:610505
Roifman Syndrome
Noncompaction cardiomyopathy, Retinal dystrophy, Intrauterine growth retardation, Hip contracture ORPHA:353298
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Sclerocornea, Congenital diaphragmatic he... OMIM:309801
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, Increased intramyocellular lipid droplets, Shoulder girdle muscle weakness, EMG: myopat... ORPHA:98907
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Patent ductus arter... OMIM:615355
Hurler Syndrome
Retinal degeneration, Mitral regurgitation, Aortic regurgitation, Endocardial fibroelastosis, Car... OMIM:607014
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Chorioretinal atro... ORPHA:5
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Intrauterine growth retard... OMIM:230500
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopathy, Congestive... ORPHA:465508
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Lethargy OMIM:616483
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Usher Syndrome
Hypertrophic cardiomyopathy, Myopathy, Abnormality of retinal pigmentation, Ataxia, Abnormal card... ORPHA:886
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Absent muscle fiber merosin, Reduced ejection fraction, Myositis, Macroglossia, Pulmon... ORPHA:258
Mucopolysaccharidosis Type 2
Hypertension, Abnormality of retinal pigmentation, Optic atrophy, Retinal degeneration, Umbilical... ORPHA:580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Ataxia OMIM:604273
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, Autophagic vacuoles, Facial palsy... OMIM:164310
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Ventricular arrhythmia, Quadriceps muscle weakness, Lethargy, Gait distur... ORPHA:254892
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Weakness of facial musculature, Cardiomyopathy, Raynaud phenomenon,... ORPHA:247691
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Intrauterine growth retardation OMIM:300590
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Dystonia, Dysphagia, Skeletal muscle atrophy, Ataxia, Cataract, Arrh... OMIM:615471
Glycogen Storage Disease Iv
Cardiomyopathy, Portal hypertension, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:232500
Primary Lipodystrophy
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Congestive heart failure, An... ORPHA:90970
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Dysphagia, Dystonia, Mitral r... ORPHA:70474
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Dysphagia, Gait disturbance, Myositis, En... ORPHA:183
Juvenile Dermatomyositis
Dysphagia, Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Bundle... ORPHA:93672
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in muscle t... ORPHA:550
Fetal Gaucher Disease
Death in infancy, Intracranial hemorrhage, Neonatal death, Stillbirth, Arthrogryposis multiplex c... ORPHA:85212
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Hurler Syndrome
Hypertension, Death in infancy, Macroglossia, Endocardial fibroelastosis, Cardiomyopathy, Corneal... ORPHA:93473
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Retinal capillary hemangioma, Palpitations, Cardiomyopathy, Macular ed... ORPHA:892
Vici Syndrome
Dilated cardiomyopathy, Developmental cataract, Myopathy, Ocular albinism, Hypopigmentation of th... OMIM:242840
Pseudoxanthoma Elasticum
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Angioid st... ORPHA:758
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... ORPHA:91495
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Optic atrophy, Dystonia, Prolonged QT interval, Intrauterine growth retar... ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood OMIM:614582
Propionic Acidemia
Dystonia, Limb hypertonia, Cerebellar hemorrhage, Cardiomyopathy, Lethargy OMIM:606054
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Shock, Lethargy, Pericarditis, Subconjunctival hemorrhage, Tachycardia, B... ORPHA:99826
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Dysphagia, M... ORPHA:85443
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Conjunctival hyperemia, Hypertrophic cardiomyopathy, Scissor gait, Facial diplegia, Dysmetria, Sp... OMIM:619121
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Progressive gait ataxia, Muscle fiber necrosis,... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Skeletal muscle atrophy, Retinal dysplasia, Congenital mus... OMIM:253800
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Atrioventricular canal defect, Cong... ORPHA:251071
Congenital Fibrinogen Deficiency
Developmental cataract, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy,... ORPHA:335
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... ORPHA:500
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Neonatal death OMIM:245650
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Optic atrophy, Abnormal endocardium morphology, Mitral... ORPHA:324
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Ragged-red muscle fibers, Dys... ORPHA:255210
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Developmental cataract, Neonatal death OMIM:618810
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Optic atrophy, Weakness of facial musculature, Increased intramyocel... OMIM:220110
Mitochondrial Complex Iii Deficiency, Nuclear Type 1