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Gene: Tcap MGI:1330233

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

titin-cap

Synonyms:

Telethonin

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 Tcap mutations

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

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

Human diseases associated with Tcap (3 diseases)
Human diseases predicted to be associated with Tcap (790 diseases)

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

Disease	Matching phenotypes	Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487

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

Disease	Matching phenotypes	Source
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ...	OMIM:158600
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Somatic sensory dysfunction, Distal lower limb muscle weakness, Impaired...	OMIM:615025
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Impaired vibration sensation in the lower limbs, Intrinsic hand muscle...	ORPHA:399081
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Merrf	Myopathy, Ragged-red muscle fibers, Ataxia	ORPHA:551
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Somatic sensory dysfunction, Ragged-red muscle fibers, Lower limb a...	OMIM:616924
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Ataxia	ORPHA:2579
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakne...	OMIM:500002
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ...	OMIM:619216
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers, Ataxia	OMIM:545000
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Distal sensory impairment, Fiber type grouping	OMIM:614369
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Impaired distal vibration sens...	ORPHA:276435
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross...	OMIM:619903
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Distal sensory impairment, A...	ORPHA:399086
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Impaired vibratory sensation, Achilles tendon contracture, Proximal...	ORPHA:2596
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Proximal Myopathy With Extrapyramidal Signs	Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Increased variability in muscle fiber...	ORPHA:401768
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers, Ataxia	OMIM:618242
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Flexion contracture,...	OMIM:248800
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Ethanolaminosis	Cardiomegaly	OMIM:227150
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fiber diamet...	OMIM:619473
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Ataxia	OMIM:551500
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait a...	ORPHA:309169
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy...	OMIM:608340
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Central Core Disease	Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea...	ORPHA:597
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Distal sensory impairment, Shou...	OMIM:606070
Leber Hereditary Optic Neuropathy	Myopathy, Ataxia	ORPHA:104
Hereditary Continuous Muscle Fiber Activity	Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Centrally nucleated skeletal muscle fibers, Impaired pain sensati...	OMIM:619574
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ...	ORPHA:169189
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers	OMIM:616794
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy	OMIM:255100
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Im...	OMIM:607459
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph...	OMIM:619542
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Ataxia, Increased variability in muscle fiber diameter	OMIM:125250
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Glutamate-Cysteine Ligase Deficiency	Myopathy, Ataxia	ORPHA:33574
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Athetosis, Ragged-red muscle fibers, Ataxia	OMIM:615159
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Distal se...	ORPHA:254886
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ...	OMIM:619518
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci...	ORPHA:169186
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets	OMIM:619065
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy...	OMIM:301830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia	ORPHA:157973
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Atransferrinemia	Congestive heart failure	OMIM:209300
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Isolated Glycerol Kinase Deficiency	Myopathy	ORPHA:408
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Upper limb muscle weakness, Distal amyotrophy, EMG: myopathic abnorm...	ORPHA:99939
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia	ORPHA:480
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Knee flexion contracture, Distal sensory impairment, Generalized ...	OMIM:612954
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Truncal ataxia, Muscle fibe...	ORPHA:369840
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Spinocerebellar Ataxia With Epilepsy	Dysmetria, Gait ataxia, Myopathy, Dysdiadochokinesis, Progressive cerebellar ataxia	ORPHA:254881
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness	OMIM:615156
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers	OMIM:615368
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content	OMIM:610717
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Impaired propr...	OMIM:500013
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98853
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Flexion contracture	OMIM:618237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Weakness of facial musculature	OMIM:618416
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia	OMIM:300653
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged-red muscle fibers, ...	OMIM:258450
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Spinocerebellar Ataxia 28	Somatic sensory dysfunction, Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hyper...	OMIM:610246
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopathy, Chorea, Limb-girdle muscular dystrophy, Truncal ataxia	ORPHA:369847
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Chorea, Athetosis	OMIM:617235
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy	OMIM:615980
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy	OMIM:232400
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly	OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy	OMIM:618236
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Ragged-red muscle fibers, Paroxysmal choreoathetosis	OMIM:500003
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Distal sensory impairment, Abnormality of the calf...	ORPHA:600
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
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Ataxia, Gait ataxia	OMIM:613077
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature	ORPHA:254875
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy	ORPHA:26792
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co...	OMIM:161800
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy	ORPHA:352447
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy	OMIM:616549
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Patent d...	ORPHA:90308
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Ataxia, Myopathy	ORPHA:1215
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter	OMIM:613752
Spastic Paraplegia Type 7	Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ...	ORPHA:99013
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90037
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ...	ORPHA:79083
Babesiosis	Splenomegaly, Congestive heart failure, Myocardial infarction, Hepatomegaly	ORPHA:108
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Myopathy, Muscular dystrophy, Aplasia/Hypoplasia involving the s...	ORPHA:559
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia	ORPHA:713
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ...	ORPHA:2348
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Leber Optic Atrophy	Myopathy, Ataxia	OMIM:535000
Chanarin-Dorfman Syndrome	Myopathy, Ataxia	OMIM:275630
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Camptodactyly of finger	ORPHA:261519
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Axial Osteomalacia	Myopathy	OMIM:109130
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Flexion contracture, Skeletal muscle hypertrophy, Myopathy, Paresthesia	ORPHA:682
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia	ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	OMIM:616239
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy	ORPHA:42
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, ...	ORPHA:3208
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy, Ataxia, Gait ataxia	ORPHA:363400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged-red muscle fibers, ...	OMIM:157640
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased ...	OMIM:252011
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy	ORPHA:166002
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Ataxia, Myopathy, Weakness of facial musculature	ORPHA:98673
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax...	ORPHA:70595
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Impaired proprioception	ORPHA:71
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Flexion contracture, Ataxia, Myopathy	OMIM:201470
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis...	ORPHA:26791
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Sengers Syndrome	Myopathy	OMIM:212350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Dysmetria, Positive Romberg sign, Lowe...	OMIM:616479
Xanthinuria, Type I	Myopathy	OMIM:278300
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Increased variability in muscle fiber diameter, Dysmetria, Increased...	ORPHA:502423
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia	OMIM:609286
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Myopathy, Mitochondrial, And Ataxia	Ataxia, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyotrophy, Dysdiadochokinesis,...	OMIM:617675
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Mcleod Syndrome	Myopathy, Chorea, Rhabdomyolysis, Impaired vibration sensation at ankles	OMIM:300842
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Increased variability in muscle fiber diameter	OMIM:604377
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Immunodeficiency 10	Myopathy	OMIM:612783
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con...	ORPHA:137667
Familial Isolated Hypoparathyroidism	Myopathy	ORPHA:2238
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90033
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Dietary Iron Overload Disease	Congestive heart failure, Hepatic periportal necrosis, Abnormal heart morphology, Hepatomegaly	ORPHA:139507
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Optic Atrophy 11	Ataxia, Dysmetria, Facial diplegia, Athetosis, Increased variability in muscle fiber diameter, Fi...	OMIM:617302
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Adrenomyodystrophy	Myopathy	ORPHA:977
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Generalized amyotrophy, Proximal amyotrophy	OMIM:615084
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Muscle-Eye-Brain Disease	Myopathy	ORPHA:588
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter...	ORPHA:354
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger	ORPHA:915
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular...	OMIM:201475
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Patent ductus arteriosus, Splenomegaly, Flexion contractu...	OMIM:617303
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion co...	OMIM:309900
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hypertension, Palpitat...	ORPHA:525731
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid droplets, EMG...	ORPHA:98907
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Pulmonary arterial hyp...	ORPHA:220393
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Immunodeficiency 9	Myopathy	OMIM:612782
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Lim...	ORPHA:1900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion...	ORPHA:505248
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Autosomal Dominant Progressive External Ophthalmoplegia	Ataxia, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness,...	ORPHA:254892
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Distal amyotrophy, Increased variability in muscle fib...	OMIM:164310
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu...	OMIM:601808
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Familial Aortic Dissection	Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myopathy, Rhabdomyolysis	ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure	ORPHA:67
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi...	ORPHA:263297
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo...	ORPHA:579
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities	OMIM:620326
Carcinoid Syndrome	Myopathy	ORPHA:100093
Tetrasomy 5P	Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arteria...	ORPHA:3309
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, S...	OMIM:608779
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass	ORPHA:261476
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten...	ORPHA:85450
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities	ORPHA:684
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve...	OMIM:231050
Alstrom Syndrome	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly	OMIM:203800
Cystinosis	Myopathy	ORPHA:213
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas...	ORPHA:33226
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail...	ORPHA:902
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure	OMIM:617253
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch...	ORPHA:1830
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Triosephosphate Isomerase Deficiency	Splenomegaly, Congestive heart failure, Myopathy, Skeletal muscle atrophy	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 11	Myopathy	OMIM:614922
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Chorea, Choreoathetosis, Myopathy, ...	ORPHA:506
Usher Syndrome	Myopathy, Ataxia	ORPHA:886
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Abetalipoproteinemia	Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Impaired proprioception, Dy...	ORPHA:14
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Avian Influenza	Congestive heart failure, Rhabdomyolysis	ORPHA:454836
Scleromyxedema	Myopathy, Abnormal skeletal muscle morphology	ORPHA:167635
Congenital Myasthenic Syndrome	Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mult...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mult...	ORPHA:98914
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter	OMIM:615595
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Stormorken Syndrome	Myopathy	OMIM:185070
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal...	OMIM:618733
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Elbow flexion contracture, Knee flexion contracture, Hyperesthesia, EMG: myopath...	ORPHA:371364
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Musculocontractural Ehlers-Danlos Syndrome	Dysesthesia, Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy	ORPHA:2953
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Flexion contracture	OMIM:616271
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,...	OMIM:242840
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ...	OMIM:617403
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,...	ORPHA:2331
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Melas	Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ataxia	ORPHA:550
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli...	ORPHA:3260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616482
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy	OMIM:619424
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Sanjad-Sakati Syndrome	Myopathy	ORPHA:2323
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Splenomegaly, High-output congestive heart failure, Dilated cardio...	ORPHA:231226
Erdheim-Chester Disease	Congestive heart failure, Abnormal aortic valve morphology, Abnormal pericardium morphology	ORPHA:35687
Aceruloplasminemia	Congestive heart failure, Torticollis	ORPHA:48818
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Myopathy	OMIM:618975
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat...	OMIM:602782
Carnitine Palmitoyltransferase Ii Deficiency	Myopathy, Rhabdomyolysis	ORPHA:157
Acquired Generalized Lipodystrophy	Myopathy, Calf muscle pseudohypertrophy	ORPHA:79086
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:109
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, ...	ORPHA:231214
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Beta-Thalassemia Intermedia	Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a...	ORPHA:231222
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Generalized Pustular Psoriasis	Congestive heart failure	ORPHA:247353
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Lethal Congenital Contracture Syndrome 10	Macroglossia, Increased variability in muscle fiber diameter, Torticollis	OMIM:617022
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
Listeriosis	Pericarditis, Myocarditis, Congestive heart failure, Rhabdomyolysis, Endocarditis, Arteritis	ORPHA:533
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Wolfram Syndrome	Myopathy, Ataxia	ORPHA:3463
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop...	ORPHA:800
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Alpha-Mannosidosis, Infantile Form	Macroglossia, Facial hypotonia, Myopathy, Ataxia	ORPHA:309282
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities	ORPHA:2549
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Primary Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hep...	ORPHA:171
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Choreoath...	ORPHA:17
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:444077
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Sickle Cell Disease	Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly	OMIM:603903
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Caribbean Parkinsonism	EMG: myopathic abnormalities, Progressive gait ataxia	ORPHA:97355
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Abnormal cardiac ventricular function, Dilatation of the ventricular ca...	ORPHA:90349
Stromme Syndrome	Myopathy	OMIM:243605
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Renovascular hypertension, Hepatosplenomegaly, Pulmonary arterial hyper...	ORPHA:391487
Cantú Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Neurodegeneration With Brain Iron Accumulation 1	Choreoathetosis, Myopathy, Decreased muscle mass, Ataxia	OMIM:234200
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy, Abnor...	ORPHA:228308
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure	OMIM:181270
Glycerol Kinase Deficiency	Myopathy, Muscular dystrophy	OMIM:307030
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	EMG: myopathic abnormalities, Ataxia, Acute rhabdomyolysis	ORPHA:480864
Multiple Endocrine Neoplasia, Type Iib	Myopathy	OMIM:162300
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Choreoacanthocytosis	Impaired vibratory sensation, Peroneal muscle atrophy, Chorea, Myopathy, Distal amyotrophy, Muscl...	ORPHA:2388
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture	OMIM:225400
Marfan Syndrome	Congestive heart failure, Mitral valve calcification, Skeletal muscle atrophy, Mitral valve prolapse	ORPHA:558
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h...	OMIM:619475
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure	OMIM:617156
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:536545
Atypical Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Congestive heart failure, Aortic valve calci...	ORPHA:79474
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Myopathy	OMIM:612541
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Dilatation of the ventricul...	ORPHA:90348
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, He...	ORPHA:3385
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Lower limb muscle ...	ORPHA:90307
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Cystinosis, Nephropathic	Skeletal muscle atrophy, Myopathy	OMIM:219800
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Thyrotoxic Periodic Paralysis	Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m...	ORPHA:79102
Ogden Syndrome	Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se...	OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia	ORPHA:96191
1P36 Deletion Syndrome	Myopathy, Camptodactyly of finger	ORPHA:1606
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis	OMIM:618278
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype...	ORPHA:51
Carney Complex	Hypertension, Cardiac myxoma, Congestive heart failure	ORPHA:1359
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Dermatomyositis	Inflammatory myopathy	ORPHA:221
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Pat...	OMIM:619991
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,...	ORPHA:3472
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Proteus Syndrome	Myofibrillar myopathy, Decreased muscle mass	ORPHA:744
Alström Syndrome	Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy...	ORPHA:64

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 Tcap

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 Tcap.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tcap^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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