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Gene: Dtna MGI:106039

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dystrobrevin alpha
Synonyms:
adbn,  a-DB-1,  Dtn,  87K protein,  2210407P21Rik,  alpha-dystrobrevin,  A0

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 Dtna 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 Dtna by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Ataxia OMIM:208750
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia OMIM:310095
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Ventricular hypertrophy, Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular... OMIM:601287
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy OMIM:612998
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Somatic sensory dysfunction, Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakn... ORPHA:63273
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... OMIM:615352
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... OMIM:613319
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Distal sens... OMIM:612954
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Cardiomyopathy, D... OMIM:610100
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder... OMIM:603511
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat... OMIM:613155
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... ORPHA:86812
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Impaired vibration sensation in the lower limbs, Optic atrophy, Card... ORPHA:320360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... OMIM:614302
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy OMIM:613158
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Limb-girdle muscle weakness, Muscular dystrophy OMIM:616094
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... OMIM:619903
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Congenital muscular dystrophy, Muscular dystrophy OMIM:613151
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Distal sensory impairment, C... ORPHA:399086
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Telangiectasia, Muscula... ORPHA:459033
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
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 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia OMIM:616516
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Scapuloperoneal amyotrophy, A... OMIM:613205
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... OMIM:158900
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Calf muscle pseudohypertrophy, Scapular winging, Muscular dystrophy, Achilles tendon contracture ORPHA:62
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr... OMIM:613156
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Distal sensory impairment, Cardiomyopathy, Global systolic dysfunction, Limb muscle weakness, Nem... OMIM:606842
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Ataxia, Muscular dystrophy OMIM:615350
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, ... ORPHA:1177
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... OMIM:611588
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystroph... ORPHA:369840
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... OMIM:601419
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia OMIM:255100
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy OMIM:613869
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Ataxia OMIM:618683
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hypertension, Myopathy, Muscular dystrophy, Lower limb muscle weakness OMIM:615980
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Ankle flexion contracture, Optic atrophy, Telangiectasia, Knee flexion contracture, Muscu... OMIM:608799
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Sarcosinemia
Ataxia, Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Optic atrophy, Lef... OMIM:252011
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Optic atrophy, Cardiomyopathy, Increa... ORPHA:401768
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr... ORPHA:254886
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... OMIM:619424
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... ORPHA:171433
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
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Optic atrophy, Myopathy, Muscular dystrophy, Aplasia/Hypoplasia ... ORPHA:559
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Optic atrophy OMIM:618236
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Ataxia OMIM:620270
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Chorea, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia ORPHA:324588
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... ORPHA:171442
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged-red muscle fibers, ... OMIM:258450
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Muscular dystrophy OMIM:615181
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Optic atrophy, Myopathy... ORPHA:1215
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... ORPHA:370959
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... ORPHA:85447
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
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
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Increased muscle lipid content, Myopathy OMIM:610717
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Optic atrophy, Myopathy ORPHA:26792
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture, Optic atrophy OMIM:618237
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ataxia OMIM:615917
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
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
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy ORPHA:98896
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, ... OMIM:618228
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... OMIM:115197
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension, Ataxia ORPHA:3222
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Dpm1-Cdg
Ataxia, Optic atrophy, Knee flexion contracture, Muscular dystrophy, Camptodactyly ORPHA:79322
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Glycogen Storage Disease Iii
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Ataxia, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Atrial ... OMIM:249270
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Optic atrophy, Limb ataxia, Gait ata... OMIM:619259
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Chorea, Dilated cardiomyopathy, Choreoathetosis, Facial myokymia, Limb ... OMIM:606703
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Impaired propriocep... OMIM:229300
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Maternally-Inherited Diabetes And Deafness
Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:225
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 Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Joint contracture, Flexion contracture OMIM:608540
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy OMIM:612989
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Congestive heart failure, Cr... ORPHA:52430
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98853
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension,... ORPHA:1349
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618229
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Optic ... OMIM:253800
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrh... OMIM:266500
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy, Ataxia OMIM:619688
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Muscular dystrophy ORPHA:88618
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Optic atrophy, Telangiectasia, Paresthesia, Generalized amyotrophy, H... ORPHA:79279
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98863
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... ORPHA:3208
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Cardiomyopathy, Bradycardia, Arrh... OMIM:609286
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis OMIM:619433
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Infantile Refsum Disease
Ataxia, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia ORPHA:772
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Mcleod Syndrome
Atrial fibrillation, Chorea, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Im... OMIM:300842
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitation, Reduced m... OMIM:212140
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Arrhythmia, Hypertrophic cardiomy... ORPHA:96
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Hypertrophic cardiomyopathy, Optic atrophy OMIM:618241
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Optic atrophy, Dysmetria, Cardiomyopathy, Athetosis, Generalized... OMIM:617710
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Muscular dystrophy OMIM:615249
Hsd10 Mitochondrial Disease
Choreoathetosis, Hypertrophic cardiomyopathy, Optic atrophy OMIM:300438
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... OMIM:619051
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Optic atrophy, Mu... ORPHA:899
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... OMIM:615418
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy OMIM:613154
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Optic atrophy, Gait ataxia, Cardiomyopathy OMIM:620089
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Cardiomyopathy, Optic atrophy, Ataxia ORPHA:27
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy, Optic atrophy, Ataxia OMIM:617183
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilate... OMIM:619167
Cyclic Vomiting Syndrome
Cardiomyopathy, Ataxia OMIM:500007
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Ataxia OMIM:246900
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Friedreich Ataxia
Hand muscle atrophy, Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, ... ORPHA:95
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Congestive heart failure, Chorea, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:70472
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature OMIM:201470
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Cardiomyopathy, Optic atrophy ORPHA:79312
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Adrenal Hypoplasia, Congenital
Muscular dystrophy OMIM:300200
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Ataxia OMIM:617757
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Ataxia OMIM:614879
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... OMIM:212350
Neuraminidase Deficiency
Skeletal muscle atrophy, Dysmetria, Cardiomyopathy, Cardiomegaly OMIM:256550
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function, Ataxia ORPHA:2394
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Kearns-Sayre Syndrome
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Hypertrophic cardiomyopathy, Lower limb amyot... ORPHA:496790
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities OMIM:620326
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... ORPHA:1194
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Portal hypertension, Cardiomyopathy OMIM:232500
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Positive Romberg sign, Abnormal autonomic nerv... OMIM:105210
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... ORPHA:330001
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving th... ORPHA:2671
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Optic atrophy, Optic disc pallor OMIM:618437
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Ataxia OMIM:619046
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Abnormal ca... ORPHA:565612
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ataxia OMIM:614299
Isolated Atp Synthase Deficiency
Ataxia, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Muscular dystrophy OMIM:614643
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
American Trypanosomiasis
Aganglionic megacolon, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:3386
Noonan Syndrome 8
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:615355
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Optic atrophy ORPHA:544469
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Rhabdomyosarcoma, Muscular dystrophy, Subvalvular aortic stenosis, Atrial s... ORPHA:1052
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa... ORPHA:746
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Optic atro... OMIM:616878
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Refsum Disease
Heart block, Skeletal muscle atrophy, Ataxia, Cardiomyopathy ORPHA:773
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Dysmetria, Facial diplegia, Truncal ataxia, Hypertrophic cardiomyo... OMIM:619121
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hype... OMIM:604377
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Dilated cardiomyopathy... OMIM:164310
Wolfram Syndrome 1
Cardiomyopathy, Optic atrophy, Ataxia OMIM:222300
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lip... ORPHA:98907
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Hsd10 Disease, Infantile Type
Choreoathetosis, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left ventricular eje... OMIM:201475
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy OMIM:619386
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea... ORPHA:26791
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Ataxia, Congestive heart failure, Aplasia/Hyp... ORPHA:354
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flexion contracture, Optic atrophy, Gait ataxia, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:619383
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Epidermolysis Bullosa Simplex With Pyloric Atresia
Flexion contracture, Muscular dystrophy ORPHA:158684
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy ORPHA:369
Melas
Wolff-Parkinson-White syndrome, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, R... ORPHA:550
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... OMIM:618775
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Increased intramyocellular lipid droplets, Truncal ataxia, Weakness of fac... OMIM:220110
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia OMIM:606054
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... ORPHA:465508
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Ataxia, Skeletal muscle steatosis ORPHA:436271
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy OMIM:307030
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... ORPHA:308552
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Cardiomyopathy, Athetosis, Generalized amyotrophy, Limb hypertonia ORPHA:572798
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Optic atrophy, Congenital muscular dystrophy, Optic nerve hypoplasia OMIM:236670
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Portal hypertension OMIM:619902
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Agel Amyloidosis
Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfun... ORPHA:85448
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Wolfram Syndrome
Gastrointestinal hemorrhage, Ataxia, Optic atrophy, Cardiomyopathy, Myopathy, Abnormal autonomic ... ORPHA:3463
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest OMIM:620167
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Vici Syndrome
Cardiomyopathy, Optic atrophy ORPHA:1493
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy OMIM:614922
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology,... ORPHA:251071
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Ataxia, Type 2 muscle fiber predominance, Choreoathetosis, Arrhythmia, H... OMIM:615471
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Cardiac conduction abnormality, Chorea, Choreoathetosis, Cardiomyopathy... ORPHA:2131
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyopathy, Myopath... ORPHA:79086
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Ataxia ORPHA:886
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... ORPHA:3071
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Optic neuropathy, Hypertrophic cardiomyopathy, Abnormal mitochondria i... ORPHA:2609
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Cardiac conduction abnormality, Chorea, Dilated cardiomyopathy, Ragged-red muscle fibers,... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy OMIM:618839
Congenital Enterovirus Infection
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension ORPHA:292
Congenital Generalized Lipodystrophy
Skeletal muscle hypertrophy, Macroglossia, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:528
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Optic atrophy, Abnormal tendon morphol... ORPHA:579
Hurler Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Macroglossia, Cardiomy... ORPHA:93473
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Cardiomyopathy ORPHA:445038
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... OMIM:615895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Muscular dystrophy OMIM:615287
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Von Hippel-Lindau Disease
Papilledema, Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abno... ORPHA:892
Beta-Thalassemia
Hypertrophic cardiomyopathy ORPHA:848
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... OMIM:230500
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Ataxia, Pericardial effusion, Flexion contracture, Dysmetria, Cardiomyopathy OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy OMIM:619053
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Congesti... ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Muscular dystrophy OMIM:253280
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertro... OMIM:601992
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia, Rhabdomyolysis, Myopathy ORPHA:157
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy ORPHA:5
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... OMIM:616564
Hurler Syndrome
Aortic regurgitation, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral regurgitation, En... OMIM:607014
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Flexion contracture, Optic atrophy, Macroglossia, Atrial septal defect,... OMIM:617303
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... ORPHA:280365
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Ataxia OMIM:616084
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Macroglossia, Cardiomyopathy OMIM:253220
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Vasculitis OMIM:225750
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Optic atroph... ORPHA:505248
Mucopolysaccharidosis Type 2
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Decreased nerv... ORPHA:580
Primary Hyperoxaluria
Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... ORPHA:416
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... OMIM:619745
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy OMIM:618835
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Ragged-red muscle fibers, C... OMIM:252010
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber lysosomes, Car... ORPHA:365
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Choreoath... ORPHA:17
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Increased sarcoplasmic glycogen ORPHA:264580
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... ORPHA:217085
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy OMIM:618810
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral regurgitation,... OMIM:253200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Ataxia, Arrhythmia OMIM:614052
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... ORPHA:217093
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Hereditary Spherocytosis
Restrictive cardiomyopathy, Ataxia ORPHA:822
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Portal hypertension, Dysdiadochokinesis, Truncal ataxia, Hypertrophic cardiomyopathy, Hypomimic face ORPHA:309854
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Gait ataxia ORPHA:33364
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618329
Toriello-Carey Syndrome
Aganglionic megacolon, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, Tet... ORPHA:3338
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiom... ORPHA:175
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect ORPHA:769
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Flexion contracture, Subdural hemorrhage, Retinal hem... ORPHA:90324
Postinfectious Vasculitis
Cerebral vasculitis, Abnormality of the peripheral nervous system, Raynaud phenomenon, Cardiomyop... ORPHA:48435
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363958
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... ORPHA:373
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis ORPHA:79430
Camurati-Engelmann Disease
Skeletal muscle atrophy, Ataxia, Facial palsy, Optic atrophy, Hypertrophic cardiomyopathy, Optic ... ORPHA:1328
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Beckwith-Wiedemann Syndrome
Macroglossia, Cardiomyopathy, Diastasis recti, Cardiomegaly OMIM:130650
Pearson Syndrome
Cardiomyopathy, Ataxia, Cardiac conduction abnormality, Abnormal heart morphology ORPHA:699
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Ataxia OMIM:124000
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyo... OMIM:615846
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Ataxia, Aortic valve atresia, Dysmetria, Hypertension, Mit... OMIM:220111
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... OMIM:218040
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Generalized muscular appearance from birth OMIM:608594
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... ORPHA:363700
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Generalized muscular appearance from birth, Ventricular septal hyper... OMIM:269700
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Camptodactyly of finger, ... OMIM:607872
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis recti, Ma... OMIM:312870
Zimmermann-Laband Syndrome 1
Cardiomyopathy OMIM:135500
Tyrosinemia, Type I
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage OMIM:276700
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy ORPHA:480880
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... OMIM:216340

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 Dtna

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 Dtna.

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

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