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Gene: Klhl40 MGI:1919580

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Gene Summary

Name:
kelch-like 40
Synonyms:
Kbtbd5,  2310024D23Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Klhl40em1(IMPC)J HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

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Human diseases caused by Klhl40 mutations

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

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

The table below shows human diseases associated to Klhl40 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nemaline Myopathy 8
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... OMIM:615348
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ophth... ORPHA:171430

The table below shows human diseases predicted to be associated to Klhl40 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... OMIM:609200
Scapuloperoneal Myopathy, X-Linked Dominant
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Arrhythmia, Flexion contracture, Sca... OMIM:300695
Myopathy, Distal, 4
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardio... OMIM:614065
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Torticoll... OMIM:158810
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Neck flexor weakness, Limb muscle weakness OMIM:609273
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... ORPHA:611
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Nemaline Myopathy 7
Gowers sign, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficiency due to muscle we... OMIM:610687
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Proximal muscle weakness, Myopathy, Growth delay OMIM:255140
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Inclusion Body Myositis
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature OMIM:181430
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... ORPHA:178464
Muscular Dystrophy, Congenital, Merosin-Positive
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:609456
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal mor... OMIM:615424
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Proximal muscle weakness, Atrial fibrillation, Bradycardia, Muscular dystrop... OMIM:614302
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Myopathy, Spheroid Body
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... OMIM:182920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle ... OMIM:612937
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... ORPHA:399058
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Proxi... OMIM:609524
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Proximal muscle weakness, Myopathy, Supraventricular tachycardia, Cardiomyopathy, Fatty replaceme... OMIM:255100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Scapular winging, Abdominal wall muscle ... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal muscle weakness, Distal amyotrophy OMIM:606768
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... OMIM:605637
Zebra Body Myopathy
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... ORPHA:97240
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopa... OMIM:500002
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... OMIM:609452
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... OMIM:613204
Rigid Spine Syndrome
Poor head control, Myopathy, Gowers sign, Skeletal muscle atrophy, Hip contracture, Cardiac condu... ORPHA:97244
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... OMIM:618940
Acetyl-Coa Carboxylase Deficiency
Myopathy, Growth delay OMIM:613933
Congenital Myopathy With Myasthenic-Like Onset
Proximal muscle weakness, Myopathy, Minicore myopathy, Respiratory insufficiency due to muscle we... ORPHA:424107
Ocular Myopathy With Curare Sensitivity
Myopathy, Static ophthalmoparesis, Limb muscle weakness OMIM:257600
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness... ORPHA:266
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Generalized muscle weakness, Calf muscle hypertro... OMIM:611705
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Short stature, Respiratory insufficiency due to muscle weakness... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Neck flexor weakness, Respirato... ORPHA:171442
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Progressive distal muscle weak... ORPHA:399081
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Muscle weakness, Myopathy OMIM:616314
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Bethlem Myopathy 2
Proximal muscle weakness, Myopathy, Muscle weakness, Increased variability in muscle fiber diamet... OMIM:616471
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Short stature, C... OMIM:610717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscle atrophy,... OMIM:254110
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Nemaline Myopathy 1
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... OMIM:609284
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Increased variability in muscle fiber diameter, Distal amyotrophy... OMIM:619042
Distal Myotilinopathy
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, Cardiomyopathy, EMG: myopathi... ORPHA:98911
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Palpitations, Calf mu... ORPHA:488650
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy, Short stature OMIM:253320
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... OMIM:619216
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Gowers sign, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscu... OMIM:602541
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Neck flexor weakness, Palpitations, Ventricular hypertrophy, Ventricular t... ORPHA:263297
Merrf
Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Pleoconial Myopathy With Salt Craving
Proximal amyotrophy, Proximal muscle weakness, Myopathy OMIM:262900
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmop... ORPHA:270
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Myopathy, Ragged-red muscle fibers OMIM:545000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Proximal muscle weakness, Rimmed vacuoles, Scapuloperoneal weakness,... OMIM:300696
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory i... OMIM:603034
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... OMIM:609283
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... ORPHA:34516
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... OMIM:603689
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Generalized amyotrophy, Cardio... ORPHA:86812
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Proximal muscle weakness, Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormaliti... OMIM:611307
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Myopathy, Ragged-red muscle fibers, Proximal muscle weakness, Poor head control, Mus... ORPHA:353327
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... OMIM:608358
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... OMIM:605355
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Atrioventricular block, Achilles tendon contracture, Decreased cervical spine flexion d... OMIM:310300
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy, Generalized muscle weakness OMIM:616321
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuo... OMIM:616924
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... ORPHA:399086
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... ORPHA:171439
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... OMIM:181350
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... OMIM:618654
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Nemaline Myopathy 8
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... OMIM:615348
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Myopathy, Skeletal muscle atrophy, Congestive heart failure, Flexion contractu... ORPHA:157973
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Proximal muscle weakness, Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakne... OMIM:616812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to mus... OMIM:605809
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Fatiguable weakness of proximal l... ORPHA:206569
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Limb mu... OMIM:609286
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder... OMIM:167320
Myopathy, Distal, 3
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... OMIM:610099
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Ophthalmoplegia, ... OMIM:540000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Proximal muscle weakness, Skeletal muscle atrophy, EMG: myopathic abnormalities, Muscular dystrop... OMIM:608807
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Short stature ORPHA:366
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Nemaline Myopathy 2
Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudohypertrophy, Pr... OMIM:256030
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... ORPHA:597
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy, Intrauterine growth retardation OMIM:618246
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy, Proportionate short stature ORPHA:50817
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Neuropathy, Ataxia, And Retinitis Pigmentosa
Proximal muscle weakness, Myopathy OMIM:551500
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Facial palsy, Generalized amyotrophy, EMG: ... OMIM:612954
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Progressive external ophthalmoplegia, External ophthalmoplegia, Facial palsy, Cardiomyo... OMIM:201470
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Centronuclear, 1
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... OMIM:160150
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture OMIM:616313
Nemaline Myopathy 3
Dilated cardiomyopathy, Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Res... OMIM:161800
Hypokalemic Periodic Paralysis, Type 1
Muscle weakness, Myopathy, Episodic flaccid weakness OMIM:170400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Weakness of facial muscu... ORPHA:254875
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Muscle weakne... OMIM:615422
Sengers Syndrome
Hypertrophic cardiomyopathy, Muscle weakness, Myopathy, Growth delay OMIM:212350
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Growth delay, Skeletal myopathy, E... ORPHA:57
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Muscle weakness, Calf muscle pseudohypertrophy, Abnormal EKG,... OMIM:300376
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gowers sign, Myopathy, Progressive external ophthalmoplegia, Multiple joint contractures, Limb-gi... ORPHA:352470
Myopathy, Congenital Proximal, With Minicore Lesions
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... OMIM:618823
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, In... ORPHA:119
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Glycogen Storage Disease Iii
Myopathy, Short stature, Ventricular hypertrophy, Cardiomyopathy, Muscle weakness, Distal amyotrophy OMIM:232400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Poor head control, Myopathy, Skeletal muscle atrophy, Arterial rupture, Muscle weakness ORPHA:300179
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... ORPHA:353
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Muscle weakness... ORPHA:254864
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... ORPHA:98902
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... OMIM:602771
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Proximal Spinal Muscular Atrophy
Proximal muscle weakness, Poor head control, Intercostal muscle weakness, Skeletal muscle atrophy... ORPHA:70
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achill... ORPHA:254361
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Respiratory insufficiency due to muscle weakness, Increased ... OMIM:616816
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Ventricular hypertrophy, At... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Short stature, Increased... OMIM:619065
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Short stature, Macroglossia, Muscle weakness ORPHA:2349
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... OMIM:619048
Myopathy, Congenital, With Tremor
Proximal muscle weakness, EMG: myopathic abnormalities, Flexion contracture, Scapular winging, Ax... OMIM:618524
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... ORPHA:98863
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... OMIM:255320
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Intrauterine growth retardation, Bradycardia OMIM:614654
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine growth retardation, Bradycardia OMIM:616276
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalit... ORPHA:397744
Myopathy, Centronuclear, 2
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... OMIM:255200
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogryposis multiple... OMIM:301830
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Ventricular hypertrophy, Atrioventric... OMIM:212138
Myopathy Due To Myoadenylate Deaminase Deficiency
Muscle weakness, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Neck flexor we... ORPHA:98913
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Autosomal Recessive Progressive External Ophthalmoplegia
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, External opht... ORPHA:254886
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Proximal muscle weakness, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:612999
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia,... ORPHA:352447
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... ORPHA:486815
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Con... OMIM:261740
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Gowers sign, Skeletal muscle atrophy, Flexion ... OMIM:310440
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Muscular dystrophy, Arrhythmia, Shoulder girdle muscle weakness OMIM:310095
Isolated Glycerol Kinase Deficiency
Myopathy, Short stature ORPHA:408
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Episodic flaccid weakness OMIM:613345
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Proximal muscle weakness, Skeletal muscle hypertrophy, Short stature, Macroglossia, Achilles tend... OMIM:608840
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Muscle fiber atrophy, Muscular dystrophy, Limb-girdle muscula... ORPHA:369840
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... OMIM:609560
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... OMIM:618782
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Proximal muscle weakness, Generalized amyotr... OMIM:300257
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Reduced muscle c... OMIM:212140
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Proximal muscle weakness, Poor head control, Skeletal muscle atrophy... ORPHA:3208
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Diaphragmatic weakness, Generalized amyotrophy, EM... ORPHA:75840
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Progressive external ophthalmoplegia, Cardiomegaly, Cardiomyopathy, Left ventricular hy... OMIM:617713
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Typical Nemaline Myopathy
Fatiguable weakness of proximal limb muscles, Myopathy, Neck flexor weakness, Facial diplegia, Fa... ORPHA:171436
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, EMG: myopathic abnormal... OMIM:619040
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Palpitations, Increased intramyocellular lipid droplets, Muscle weakness, Rhabdomyolysis OMIM:255125
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Proximal muscle weakness, EMG: myopathic abnormalities, Distal amyotrophy, Upper limb muscle weak... ORPHA:99939
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Intrauterine growth retardation, Hypoglycosylation of alpha-dys... ORPHA:272
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Growth delay OMIM:618242
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Muscle weakness, Rhabdomyo... OMIM:300842
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Myopathy, Intrauterine growth retardation, Flexion contracture OMIM:618237
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Proximal muscle weakness, Ragged-red muscle fibers, Mitral valve prolapse, Progressive external o... OMIM:258450
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy, Delayed puberty ORPHA:2598
Hypophosphatasia, Childhood
Myopathy, Short stature OMIM:241510
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter OMIM:125250
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Growth delay, Skeletal myopathy, Endocardial... OMIM:302060
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Synaptic Congenital Myasthenic Syndromes
Proximal muscle weakness, Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle ... ORPHA:98915
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Generalized muscle weakness, Co... OMIM:601170
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Proximal muscle weakness, Macroglossia, Achilles tendon contracture, Shoulde... OMIM:606612
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... ORPHA:178148
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy ORPHA:262
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Short stature, Cardiomyopathy, Flexion contracture, Nemaline bodies OMIM:616549
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Cardiomegaly,... ORPHA:42
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Short stature, Progressive muscle weakness, Rimmed vacuoles, F... OMIM:248800
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Severe po... ORPHA:98905
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor head control, Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR inte... ORPHA:542306
Neutral Lipid Storage Myopathy
Gowers sign, Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness... ORPHA:98908
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture OMIM:614498
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Muscle weakness, Myopathy, Short stature ORPHA:166002
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mus... OMIM:619334
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... OMIM:601005
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Mitochondrial Complex I Deficiency, Nuclear Type 37
Poor head control, Skeletal muscle atrophy, Growth delay, Pulmonary arterial hypertension, Bradyc... OMIM:619272
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Proximal muscle weakness, Short stature, Generalized amyotrophy, EMG: myopathic abnormalities, Ri... ORPHA:52430
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Ventricular hypertrophy, Cardiomyopathy, Muscle weakness, Rhabdomyolysis, Arrhythmia ORPHA:228305
King-Denborough Syndrome
Proximal muscle weakness, Ventricular septal defect, Minicore myopathy, Weakness of facial muscul... OMIM:619542
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Bradycardia OMIM:617248
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Increased ... OMIM:616867
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Malignant Hyperthermia, Susceptibility To, 2
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... OMIM:154275
Lipodystrophy, Congenital Generalized, Type 4
Proximal muscle weakness, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation... OMIM:613327
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Myopathy, Progressive external ophthalmoplegia, Limb-girdle muscle weakness ORPHA:1215
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia, Flexion contracture, Camptodactyly OMIM:610015
Illum Syndrome
Calcinosis, Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Growth delay, Facial palsy, Pectoralis hypoplasia, Abnormal ca... OMIM:254940
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Immunodeficiency 9
Gowers sign, Myopathy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness OMIM:612782
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy, Ophthalmoparesis, Fatigable weakness, Ophthalmoplegia, Muscle flaccidity, Oculomotor ne... ORPHA:257
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Hyperkalemic Periodic Paralysis
Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Ophthalmoparesis, Congestive hear... ORPHA:682
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia, Short stature ORPHA:2238
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Atrioventricular block, Bradycardia, Joint contracture of the 5th finger OMIM:614407
Malignant Hyperthermia, Susceptibility To, 3
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... OMIM:154276
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy, Growth delay, Short stature OMIM:307030
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Axial Osteomalacia
Proximal muscle weakness, Myopathy OMIM:109130
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Gene... ORPHA:99901
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Right ventricular dilatation, Progressive proximal muscle weakness, Limb-girdle muscula... ORPHA:369847
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle atrophy, Severe ... ORPHA:559
Combined Oxidative Phosphorylation Defect Type 39
Poor head control, Limb hypertonia, Intrauterine growth retardation, Bradycardia, Muscle weakness... ORPHA:565624
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... OMIM:614954
Mitochondrial Trifunctional Protein Deficiency
Skeletal myopathy, Progressive distal muscle weakness, Mitral regurgitation, Cardiomyopathy, Gene... ORPHA:746
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Tachycardia, Muscle weakness, Glycogen accu... ORPHA:368
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Generalized muscle weakness, Congestive heart failure, Rhabdomy... OMIM:609015
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Combined Oxidative Phosphorylation Deficiency 24
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Facial palsy, Muscle weakness OMIM:616239
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Muscle weakness, Short stature, EMG: myopathic abnormalities, Ophthalmoplegia ORPHA:457365
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Intrauterine growth retardation, Left ventricular hypertrophy, Muscle weakness, Pos... OMIM:616733
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Oculogastrointestinal Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, External ophthalmoplegia, Abnormal mitral valve morphology ORPHA:1876
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, Short stature, Increased intramyocellular lipid droplets, Cardiomyopathy, EMG: myopathi... ORPHA:98907
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Stormorken Syndrome
Proximal muscle weakness, Myopathy, Epistaxis, Short stature OMIM:185070
Scleromyxedema
Proximal muscle weakness, Myopathy, Abnormal skeletal muscle morphology, Raynaud phenomenon, Tran... ORPHA:167635
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Adrenomyodystrophy
Myopathy OMIM:300270
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Myopathy, Skeletal muscle atrophy, Abnormal muscle glycogen content, Abno... ORPHA:367
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Growth delay, Bradycardia, Tachycardia, Flexion contracture OMIM:614653
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal muscle weakness, Paroxysmal atrial ... OMIM:164310
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexi... OMIM:619026
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Muscle weakness, Rhabdomyolysis, Tachycardia OMIM:188580
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Muscle weakness, Myopathy, Rhabdomyolysis ORPHA:713
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, S... ORPHA:79083
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Myopathy, Skeletal muscle atrophy, Short stature ORPHA:85329
Triosephosphate Isomerase Deficiency
Myopathy, Skeletal muscle atrophy, Progressive muscle weakness, Respiratory insufficiency due to ... OMIM:615512
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Reduced ejection fraction, External o... ORPHA:254892
Carcinoid Syndrome
Right ventricular failure, Facial telangiectasia, Myopathy, Palpitations, Tricuspid regurgitation... ORPHA:100093
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Chanarin-Dorfman Syndrome
Muscle weakness, Myopathy OMIM:275630
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia ORPHA:95716
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Intrauterine growth ... OMIM:610198
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Skeletal myopathy, Coronary artery stenosis, Palpitations, Low-ou... ORPHA:565612
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, External ophthalmoplegia, Respiratory insufficiency due ... ORPHA:169189
Myotonic Dystrophy 2
Proximal muscle weakness, Type 2 muscle fiber atrophy, Neck flexor weakness, Palpitations, Tachyc... OMIM:602668
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle... ORPHA:2348
Cystinosis
Myopathy, Short stature, Muscle weakness, Portal hypertension, Delayed puberty ORPHA:213
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... ORPHA:171881
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... OMIM:619461
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Leber Optic Atrophy
Myopathy, Arrhythmia OMIM:535000
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Progressive external ophthalmoplegia OMIM:613077
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Limb muscle weakness, Limb-girdle mu... OMIM:112250
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Premature ventricular contraction, Ventricular tachycardia, Supraventricula... ORPHA:423
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Myopathy ORPHA:363400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Bradycardia OMIM:608800
Adrenomyodystrophy
Myopathy, Short stature ORPHA:977
Primary Lipodystrophy
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Congestive heart failure, An... ORPHA:90970
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, Biventricular ... ORPHA:860
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Muscle fibe... OMIM:616866
Autosomal Dominant Optic Atrophy, Classic Form
Myopathy, Skeletal muscle atrophy, Weakness of facial musculature, Ophthalmoplegia, Scapular winging ORPHA:98673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Limb mus... OMIM:157640
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Congenital Myasthenic Syndrome
Proximal muscle weakness, Poor head control, Arthrogryposis multiplex congenita, EMG: myopathic a... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Proximal muscle weakness, Poor head control, Arthrogryposis multiplex congenita, EMG: myopathic a... ORPHA:98914
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... ORPHA:439232
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Ce... OMIM:619518
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Growth delay, Short stature, Hypertensive crisis, Facial palsy... ORPHA:1358
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Respiratory paralysis, Tachycardia, Cerebral ischemia, Cardio... ORPHA:449285
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in muscle t... ORPHA:550
Glycogen Storage Disease Xii
Myopathy, Delayed puberty, Short stature OMIM:611881
Scleroderma
Myocarditis, Right ventricular failure, Myopathy, Syncope, Pericarditis, Pulmonary arterial hyper... ORPHA:801
Chylomicron Retention Disease
Growth delay, Myopathy, EMG: myopathic abnormalities ORPHA:71
Immunodeficiency 10
Myopathy OMIM:612783
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Cardiomyopathy, Muscle weakness, Rhabdomyolysis, Arrhythmia ORPHA:157
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Bradycardia, Hypotension ORPHA:391673
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Gowers sign, Proximal muscle weakness, Growth delay, Weakness of facial musculature, Short statur... ORPHA:502423
Complete Atrioventricular Septal Defect
Right ventricular failure, Complete atrioventricular canal defect, Primum atrial septal defect, L... ORPHA:1329
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Glycogen Storage Disease Due To Acid Maltase Deficiency
Generalized muscle weakness, Transient ischemic attack, Vasculitis, Shortened PR interval, Lower ... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Cardiomyopathy OMIM:614922
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Myopathy, Muscle hypertrophy of the lower extremities, Skeletal musc... ORPHA:280365
Bohring-Opitz Syndrome
Intrauterine growth retardation, Short stature, Cardiomegaly, Facial hypotonia, Bradycardia, Abno... ORPHA:97297
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Caribbean Parkinsonism
Orthostatic hypotension, EMG: myopathic abnormalities ORPHA:97355
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
EMG: myopathic abnormalities, Short stature OMIM:618822
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Rhabdomyolysis, ... ORPHA:94093
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... ORPHA:75249
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Myopathy, Postnatal growth retardation, Short stature ORPHA:2323
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Poor head control, Myopathy, Skeletal muscle atrophy, Muscle weakness OMIM:614557
Paramyotonia Congenita Of Von Eulenburg
Cold paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Short stature, Arthrogryposis... ORPHA:168572
Leigh Syndrome
Hypertrophic cardiomyopathy, Myopathy, Ventricular septal defect, Skeletal muscle atrophy, Intrau... ORPHA:506
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Myopathy, Intracranial hemorrhage, Skeletal muscle atrophy, Short stature, Muscle... ORPHA:109
Xanthinuria, Type I
Myopathy OMIM:278300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Muscle weakness, Hypotension ORPHA:319213
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Growth delay, Cardiomyopathy, Left ventricular hypertrophy, Con... OMIM:242840
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Growth delay, Short stature, Aborted sudden ca... OMIM:614921
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia ORPHA:90673
Xp21 Deletion Syndrome
Decreased muscle mass, Myopathy, Growth delay, Calf muscle hypertrophy ORPHA:261476
Localized Scleroderma
Myopathy, Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Arrhythmia ORPHA:90289
Acquired Generalized Lipodystrophy
Hypertension, Myopathy, Cardiomyopathy, Abnormal cardiovascular system physiology, Calf muscle ps... ORPHA:79086
Pseudoachondroplasia
Disproportionate short-limb short stature, Skeletal myopathy ORPHA:750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia, Growth delay ORPHA:90674
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Myopathy, Abnormal heart morphology, Arthrogryposis multiplex congenita, M... ORPHA:2953
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal hemidiaphragm morphology, Reduced ejection fraction, Systolic heart ... ORPHA:980
Sheehan Syndrome
Orthostatic hypotension, Muscle weakness, Bradycardia, Palpitations ORPHA:91355
Usher Syndrome
Hypertrophic cardiomyopathy, Myopathy, Abnormal cardiovascular system physiology ORPHA:886
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Tachycardia, Hypotension OMIM:145600
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Myopathy, Cerebral hemorrhage, Skeletal muscle atrophy, Ante... ORPHA:536545
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hypertension, Pericardial effusion, Retinal hemorrhage, Subdural hemorrhage, Subconj... ORPHA:99827
Wolfram Syndrome
Myopathy, Cardiomyopathy, Gastrointestinal hemorrhage, Ophthalmoplegia, Delayed puberty ORPHA:3463
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Mitral valve prolapse, Wrist drop, Limb muscle weakness, Arterial rupture,... ORPHA:1900
Idiopathic Camptocormia
Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal muscle fiber d... ORPHA:1320
Neuromuscular Oculoauditory Syndrome
Poor head control, EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contract... OMIM:618733
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, EMG: myopathic abnormalities, Short stature ORPHA:2549
Lethal Congenital Contracture Syndrome 9
Myopathy, Congenital contracture, Intrauterine growth retardation, Abnormality of the diaphragm OMIM:616503
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Schwartz-Jampel Syndrome
Myopathy, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Flexion contrac... ORPHA:800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Hereditary Amyloidosis With Primary Renal Involvement
Hypertension, Myopathy, Gastrointestinal hemorrhage, Congestive heart failure ORPHA:85450
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Muscle weakness, Tachycardia OMIM:613239
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Ragged-red muscle fibers, Skeletal muscle atrophy, Growth delay, Failure to thrive, Increased int... ORPHA:17
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia, Growth delay OMIM:218700
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Intrauterine growth retardation, Hip contracture, Short stature, EMG: myopathic abnormalities, Kn... ORPHA:371364
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ophth... ORPHA:171430
Hereditary Xanthinuria
Myopathy ORPHA:3467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Abetalipoproteinemia
Myopathy, Cardiomegaly, Congestive heart failure, Ophthalmoplegia, Distal lower limb muscle weakness ORPHA:14
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Congenital diaphragmatic hernia, Bradycardia OMIM:614437
Dermatomyositis
Myocarditis, Proximal muscle weakness, Pericarditis, Pulmonary arterial hypertension, Telangiecta... ORPHA:221
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Pituitary dwarfism, Bradycardia, Growth delay ORPHA:226307
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature ORPHA:3068
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Bannayan-Riley-Ruvalcaba syndrome
Myopathy, Postnatal growth retardation, Hematochezia OMIM:153480
Stromme Syndrome
Myopathy, Stillbirth OMIM:243605
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Distal arthrogryposis, Myopathy, Diaphragmatic eventration OMIM:618975
Marburg Hemorrhagic Fever
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia, Internal ... ORPHA:99826
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abnormalities, Abnormal EKG, Arrhythmia ORPHA:480864
Microform Holoprosencephaly
Intrauterine growth retardation, Tetralogy of Fallot, EMG: myopathic abnormalities, Short stature ORPHA:280200
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation OMIM:261990
Alpha-Mannosidosis, Infantile Form
Myopathy, Mitral regurgitation, Macroglossia, Aortic regurgitation, Facial hypotonia ORPHA:309282
Histiocytoid Cardiomyopathy
Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, ... ORPHA:137675