Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Auditory Brain Stem Response

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

8 Images

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.

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, Achilles tendon contracture, Progressive distal muscle weakness, Muscle... OMIM:609200
Myopathy, Distal, 4
Proximal muscle weakness, Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of th... OMIM:614065
Myopathy, Distal, 5
Muscle fiber splitting, Distal upper limb muscle weakness, Weakness of facial musculature, Myopat... OMIM:617030
Distal Myopathy, Welander Type
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, EMG: myopathic abnor... ORPHA:603
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Late-onset proximal muscle weakn... OMIM:601419
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammator... ORPHA:611
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Bethlem Myopathy 1
Camptodactyly of finger, Limb-girdle muscle weakness, Proximal muscle weakness, Torticollis, Elbo... OMIM:158810
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal muscle weak... OMIM:605820
Myopathy With Giant Abnormal Mitochondria
Growth delay, Myopathy, Proximal muscle weakness, Limb-girdle muscle atrophy OMIM:255140
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized muscle weakness, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Sc... OMIM:608358
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Inclusion Body Myositis
Proximal muscle weakness, Inflammatory myopathy, Distal muscle weakness, Rimmed vacuoles OMIM:147421
Nemaline Myopathy 6
Neck flexor weakness, Nemaline bodies, Myopathy, Skeletal muscle atrophy, Limb muscle weakness OMIM:609273
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Scapuloperoneal myopathy, myh7-related
Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities OMIM:181430
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscular dystrophy, Ske... OMIM:614302
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Generalized muscle weakness... OMIM:611705
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Dilated ca... OMIM:612937
Myopathy, spheroid body
Neck flexor weakness, Proximal muscle weakness, Muscle weakness, Distal muscle weakness, Myopathy... OMIM:182920
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... OMIM:612999
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Neck flexor weakness, Centrally nucleated skeleta... OMIM:614321
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmat... OMIM:609524
Mitochondrial Myopathy With Diabetes
Proximal muscle weakness, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Rag... OMIM:500002
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Neck flexor weakn... ORPHA:399103
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Proximal muscle weakness, Myo... OMIM:255100
Zebra Body Myopathy
Muscle fiber splitting, Proximal muscle weakness, Autophagic vacuoles, Gowers sign, Torticollis, ... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Multiminicore Myopathy
External ophthalmoplegia, Short stature, Abnormal muscle fiber morphology, Congenital muscular dy... ORPHA:598
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... OMIM:605637
Rigid Spine Syndrome
Hip contracture, Gowers sign, Elbow flexion contracture, Myopathy, Skeletal muscle atrophy, Cardi... ORPHA:97244
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... OMIM:618940
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive proximal muscle weakness, Autophagic vacuoles, Progressive di... OMIM:609452
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Congenital Myopathy With Myasthenic-Like Onset
Proximal muscle weakness, Multiple joint contractures, Rhabdomyolysis, Ophthalmoplegia, Fatigable... ORPHA:424107
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... ORPHA:266
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Mu... OMIM:616471
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Proximal muscle weakness OMIM:606768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... OMIM:608807
Acetyl-Coa Carboxylase Deficiency
Myopathy, Growth delay OMIM:613933
Nemaline Myopathy 7
Knee flexion contracture, Fatty replacement of skeletal muscle, Gowers sign, Shoulder girdle musc... OMIM:610687
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Proximal muscle weakness, Achilles tendon contrac... OMIM:300696
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopa... OMIM:300580
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, C... OMIM:254110
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Klhl9-Related Early-Onset Distal Myopathy
Amyotrophy of ankle musculature, Abnormality of the calf musculature, Progressive distal muscle w... ORPHA:399081
Scapuloperoneal Myopathy, X-Linked Dominant
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Right bundle ... OMIM:300695
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Neck flexor weakness, Lower ... ORPHA:171442
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Congenital Myopathy 4B, Autosomal Recessive
Generalized muscle weakness, Flexion contracture, Proximal muscle weakness, Distal lower limb amy... OMIM:609284
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Lower l... OMIM:608810
Neuropathy, Hereditary Motor, With Myopathic Features
Distal upper limb muscle weakness, Flexion contracture, EMG: myopathic abnormalities, Foot dorsif... OMIM:619216
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, Abnormal muscle fiber myotilin... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Distal upper limb muscl... OMIM:619566
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Progressive distal muscle weakness, Weakness of t... ORPHA:488650
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Shor... OMIM:619042
Myasthenic Syndrome, Congenital, 5
Generalized muscle weakness, Decreased muscle mass, Ophthalmoparesis, Fatigable weakness, Type 1 ... OMIM:603034
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Muscle weakness, Myopathy OMIM:616314
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Myopathy, Ragged-red muscle fibers OMIM:545000
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ex... OMIM:160565
Neutral Lipid Storage Disease With Myopathy
Proximal muscle weakness, Short stature, Gowers sign, Neck muscle weakness, Myopathy, Increased m... OMIM:610717
Merrf
Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Oculopharyngeal Muscular Dystrophy
Ophthalmoplegia, Abnormal muscle fiber morphology, Myopathy, Rimmed vacuoles, Ragged-red muscle f... ORPHA:270
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Sinus tachycardia... OMIM:255160
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Generalized muscle weakness, Progressive external ophthalmoplegia, EMG: myopathic abnormalities, ... OMIM:609283
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Muscle we... OMIM:602541
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Generalized muscle weakness, Fatty replacement of... ORPHA:34516
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Generalized amyotrophy, Progressive proximal muscle weakness, Shoulder ... OMIM:167320
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... ORPHA:86812
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Neck flexor weakness, Pro... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Proximal muscle weakness, Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy,... OMIM:611307
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Proximal muscle weakn... ORPHA:353327
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... OMIM:616812
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy ORPHA:1878
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Pr... OMIM:616924
Myopathy, Myofibrillar, 6
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Proximal muscle weak... OMIM:612954
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Nemaline Myopathy 5
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... OMIM:605355
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Nemaline Myopathy 8
Flexion contracture, Ophthalmoparesis, Nemaline bodies, Muscle weakness, Myofibrillar myopathy, F... OMIM:615348
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, Neck flexor weakness, ... ORPHA:263297
Leber Hereditary Optic Neuropathy
Arrhythmia, Myopathy, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Fatigable weakness, Myopathy, Type 2 muscle fiber atrophy, Bulbar palsy, Limb m... OMIM:605809
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Arrhythmia, Poo... ORPHA:157973
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Congestive heart failure, Muscle fiber necrosis, Myositis, EMG: myopathic abn... ORPHA:206569
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscle fiber atrophy, O... OMIM:618654
Central Core Disease
Multiple joint contractures, Ophthalmoplegia, Mitral valve prolapse, Central core regions in musc... ORPHA:597
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Fatigable weakness of bulbar muscles, Flexion con... ORPHA:171439
Myopathy, Centronuclear, 1
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Extern... OMIM:160150
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart f... OMIM:540000
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Centr... OMIM:619178
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Nemaline Myopathy 2
Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Nemaline bodies, Arthrogry... OMIM:256030
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Short stature ORPHA:366
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Myopathy, Distal, 3
Late-onset proximal muscle weakness, Joint contracture of the hand, Muscular dystrophy, EMG: myop... OMIM:610099
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... ORPHA:437572
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Gowers sign, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy... OMIM:310440
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fibers, EMG: my... OMIM:609286
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiomyopathy, Muscle weakness, ... OMIM:616276
Duane Anomaly-Myopathy-Scoliosis Syndrome
Proportionate short stature, Myopathy ORPHA:50817
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Right ventricular dilatation, Left... OMIM:614022
Sengers Syndrome
Muscle weakness, Hypertrophic cardiomyopathy, Myopathy, Growth delay OMIM:212350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Proximal muscle weakness,... OMIM:253601
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... ORPHA:276435
Danon Disease
Proximal muscle weakness, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-Wh... OMIM:300257
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Proximal muscle weakness OMIM:551500
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy, Intrauterine growth retardation OMIM:618246
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Proximal muscle weakness, Centrally nucle... OMIM:618823
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Generalized amyotrophy, Gowers sign, Ophthalmoparesis, Progressive external... OMIM:615156
Congenital Myopathy 2A, Typical, Autosomal Dominant
Generalized muscle weakness, Neck flexor weakness, Proximal muscle weakness, Late-onset distal mu... OMIM:161800
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Generalized muscle weakness, Flexion contracture,... OMIM:602771
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Short stature, Increased intramyocellular lipid droplets, Weakness of facial musculature, Distal ... ORPHA:457050
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... OMIM:616852
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Gowers sign, Progressive external ophth... ORPHA:352470
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... OMIM:616201
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Hypertrophic cardiomyopathy, Myopathy, Neonatal death, Intrauterine growth r... OMIM:618237
Glycogen Storage Disease Iii
Ventricular hypertrophy, Short stature, Muscle weakness, Myopathy, Distal amyotrophy, Cardiomyopathy OMIM:232400
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect, Respiratory ... OMIM:616816
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Muscle weakness, Myop... OMIM:615422
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Muscle weakness, Calf muscle pseudohypertrophy, Arrhythmia, Car... OMIM:300376
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... ORPHA:57
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Generalized muscle weakness, Spinal muscular atrophy, Ophthalmoparesis, Progressive external opht... ORPHA:254875
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Muscle weakness, Myopathy, Skeletal muscle atrophy, Poor head control, Arterial rupture ORPHA:300179
Myopathy And Diabetes Mellitus
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... ORPHA:2596
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Gowers sign, Pelvic gird... ORPHA:119
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Neck flexor weakness, Calf muscle hypertrophy, Go... ORPHA:353
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:98855
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... OMIM:255320
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Muscle weakness, Myopathy, Increased muscle lipid content, Increased muscle glycoge... ORPHA:254864
Proximal Spinal Muscular Atrophy
Knee flexion contracture, Distal upper limb muscle weakness, Flexion contracture, Proximal muscle... ORPHA:70
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98853
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Congenital Myopathy 16
Flexion contracture, Proximal muscle weakness, EMG: myopathic abnormalities, Distal muscle weakne... OMIM:618524
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Int... OMIM:619048
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300717
Amish Nemaline Myopathy
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... ORPHA:98902
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:98863
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Generalized muscle ... ORPHA:254361
Myopathy, Centronuclear, 2
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Genera... OMIM:255200
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... OMIM:212138
Postsynaptic Congenital Myasthenic Syndromes
Weakness of long finger extensor muscles, Neck flexor weakness, Fatigable weakness of respiratory... ORPHA:98913
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers, Growth delay OMIM:618242
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Intermediate Nemaline Myopathy
Cardiomyopathy, Generalized muscle weakness, Flexion contracture, Ophthalmoplegia, EMG: myopathic... ORPHA:171433
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... ORPHA:486815
Bethlem Myopathy
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... ORPHA:610
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Proximal muscle weakness, Muscle fiber atrophy, External ophthalmoplegia, Facial ... ORPHA:254886
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300718
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, In... OMIM:614654
Congenital Muscular Dystrophy Without Intellectual Disability
Generalized muscle weakness, Fatty replacement of skeletal muscle, Congenital muscular dystrophy,... ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Myopathy Due To Myoadenylate Deaminase Deficiency
Muscle weakness, Myopathy, Skeletal muscle atrophy, Rhabdomyolysis OMIM:615511
Isolated Glycerol Kinase Deficiency
Myopathy, Short stature ORPHA:408
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fatty replacement of skeletal muscle, Proximal muscle weakness, Weakness of the intrinsic hand mu... ORPHA:329478
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... OMIM:619790
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Abnormal atrioventricular conduction, Generalized muscle weakness, Skel... ORPHA:3208
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... OMIM:619040
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... OMIM:613507
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myopathy OMIM:613345
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Lipodystrophy, Familial Partial, Type 6
Proximal muscle weakness, Lower limb muscle weakness, Muscular dystrophy, Hypertension, Muscle we... OMIM:615980
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Respiratory insufficie... OMIM:301830
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy OMIM:618815
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... ORPHA:397744
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Proximal muscle weakness, Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystro... OMIM:608840
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... ORPHA:75840
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy OMIM:618236
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Dilated cardiomyopathy, Progressive external ophthalmoplegia, Weakness of... ORPHA:352447
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Generalized muscle weakness, Hip contracture, Spinal muscular atrophy, ... ORPHA:1145
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... OMIM:123320
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Progressive external ophthalmoplegia, Myopathy, Cardiomegaly, Cardi... OMIM:617713
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Muscle weakness, Myopathy OMIM:170400
Atrial Septal Defect 6
Atrial septal defect, Bradycardia, Atrial fibrillation OMIM:613087
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath... ORPHA:272
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Proximal muscle weakness, Lower limb muscle weakness, EMG: myopathic abnormalities, Distal muscle... ORPHA:99939
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... ORPHA:171436
Developmental And Epileptic Encephalopathy 101
Poor head control, Bradycardia, Third degree atrioventricular block, Limb joint contracture OMIM:619814
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... OMIM:613157
Aminoacylase 1 Deficiency
Muscle weakness, Bradycardia OMIM:609924
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Generalized amyotrophy, Gowers sign, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic ab... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Neonatal death, Failure to thrive OMIM:614096
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Proximal muscle weakness, Reduced muscle carnitine level, Congestive ... OMIM:212140
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Macroglossia, Congest... OMIM:261740
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... ORPHA:216694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Generalized muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Congenital muscul... OMIM:606612
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Hypophosphatasia, Childhood
Myopathy, Short stature OMIM:241510
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Rhabdomyolysis, Ophthalmoparesis, Increased intra... OMIM:255125
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia OMIM:125250
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy ORPHA:262
Synaptic Congenital Myasthenic Syndromes
Pulmonary arterial hypertension, Generalized muscle weakness, Proximal muscle weakness, Ophthalmo... ORPHA:98915
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Proximal muscle weakness, Fatigable weakness, Fatigable weakness of neck m... ORPHA:42
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Short stature, Nemaline bodies, Myopathy, Cardiomyopathy OMIM:616549
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Generalized muscle weakness, Flexion contracture,... OMIM:613327
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Arthrogryposis multiplex congenita, Minicore myopathy, Increased endomysial ... ORPHA:178148
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... OMIM:620138
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Ankle weakness, Distal uppe... ORPHA:600
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Short stature, Progressive muscl... OMIM:248800
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Muscle weakness, Myopathy, Short stature ORPHA:166002
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Poor head control, Arrhythmia, Prolonged PR inte... ORPHA:542306
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:613954
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
King-Denborough Syndrome
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventr... OMIM:619542
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Increased variability in muscle fiber diameter, Short stature, Muscular d... OMIM:226670
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Growth delay, Poor head control, Bradyc... OMIM:619272
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Intrauterine growth... OMIM:614702
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... OMIM:620161
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Muscle weakness, Myopathy, Arrhythmia, Cardiomyopathy ORPHA:228305
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... OMIM:154275
Neutral Lipid Storage Myopathy
Cardiomyopathy, Fatty replacement of skeletal muscle, Short stature, Gowers sign, Shoulder girdle... ORPHA:98908
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... OMIM:615418
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... OMIM:617114
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... OMIM:616470
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscula... ORPHA:369840
Hyperkalemic Periodic Paralysis
Flexion contracture, Ophthalmoparesis, Congestive heart failure, Episodic flaccid weakness, Myopa... ORPHA:682
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... ORPHA:52430
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy, Progressive external ophthalmoplegia, Cardiomyopathy ORPHA:1215
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Neonatal death, Arthrogryposis m... OMIM:619334
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... OMIM:154276
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Sp... OMIM:616867
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Bradycardia, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... OMIM:607459
Glutamine Deficiency, Congenital
Bradycardia, Flexion contracture, Camptodactyly, Neonatal death OMIM:610015
Familial Isolated Hypoparathyroidism
Myopathy, Short stature, Arrhythmia ORPHA:2238
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Phosphoglycerate Kinase 1 Deficiency
Muscle weakness, Myopathy, Rhabdomyolysis OMIM:300653
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... OMIM:254090
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita, Calcinosis OMIM:208155
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cln3 Disease
T-wave inversion, Bradycardia, Left ventricular hypertrophy ORPHA:228346
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Cardiomyopathy, Proximal muscle weakness, Muscle ... OMIM:258450
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Oculomotor nerve palsy, Ophthalmoparesis, Ophthalmoplegia, Fatigable weakness, Muscle flaccidity,... ORPHA:257
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Generalized muscle weakness, Fatigable weakness, Con... ORPHA:99901
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Congestive heart failure... OMIM:610198
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy, Growth delay, Short stature OMIM:307030
Idiopathic Congenital Hypothyroidism
Bradycardia, Macroglossia ORPHA:95717
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Combined Oxidative Phosphorylation Deficiency 24
Proximal muscle weakness, Weakness of facial musculature, Muscle weakness, Myopathy, Skeletal mus... OMIM:616239
Axial Osteomalacia
Myopathy, Proximal muscle weakness OMIM:109130
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Progressive proximal muscle weakness, Myopathy, Right ventricular... ORPHA:369847
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Ventric... ORPHA:300751
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... ORPHA:596
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Marinesco-Sjögren Syndrome
Muscular dystrophy, Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, ... ORPHA:559
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... OMIM:614954
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Generalized muscle weakness, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle... ORPHA:746
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Joint contracture, Limb hypertonia OMIM:614498
Mcleod Syndrome
Rhabdomyolysis, Dilated cardiomyopathy, Muscle weakness, Myopathy, Atrial fibrillation, Cardiomyo... OMIM:300842
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Mitochondrial Trifunctional Protein Deficiency 1
Generalized muscle weakness, Rhabdomyolysis, Dilated cardiomyopathy, Congestive heart failure, My... OMIM:609015
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myofiber disarray, Increased variability in muscle fiber diameter, Cardiac arrest, Hypertrophic c... OMIM:604377
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Limb hypertonia, Muscle weakness, Poor head control, Bradycardia, I... ORPHA:565624
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Immunodeficiency 9
Myopathy, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers sign OMIM:612782
Barth Syndrome
Endocardial fibroelastosis, Skeletal myopathy, Gowers sign, Congestive heart failure, Increased l... OMIM:302060
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Oculogastrointestinal Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, External ophthalmoplegia, Abnormal mitral valve morphology ORPHA:1876
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Muscle weakness, Short stature, Ophthalmoplegia, EMG: myopathic abnormalities ORPHA:457365
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... ORPHA:169189
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Scleromyxedema
Proximal muscle weakness, Hypoperistalsis, Abnormal skeletal muscle morphology, Transient ischemi... ORPHA:167635
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, Proximal muscle weakness, Paroxysmal atrial fibri... OMIM:164310
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Muscle weakness, Tachycardia, Palpitations, Rhabdomyolysis OMIM:188580
Chanarin-Dorfman Syndrome
Muscle weakness, Myopathy OMIM:275630
Carcinoid Syndrome
Facial telangiectasia, Heart murmur, Myopathy, Palpitations, Right ventricular failure, Tricuspid... ORPHA:100093
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Progressive proximal muscle weakness, Glycogen accumulation in muscle fiber lysos... ORPHA:368
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Muscle weakness, Myopathy, Rhabdomyolysis ORPHA:713
Autosomal Dominant Progressive External Ophthalmoplegia
External ophthalmoplegia, Reduced left ventricular ejection fraction, Ophthalmoparesis, Ophthalmo... ORPHA:254892
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Abnormal muscle glycogen content, Congestive heart failure, Dilated cardiomy... ORPHA:367
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy... OMIM:619026
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Myopathy, Skeletal muscle atrophy, Short stature ORPHA:85329
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Macroglossia ORPHA:226313
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertension, Hypertrophic c... ORPHA:79083
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Neutral Lipid Storage Disease With Ichthyosis
Short stature, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Myopathy,... ORPHA:98907
Carey-Fineman-Ziter Syndrome 1
Pulmonary arterial hypertension, Oculomotor nerve palsy, Flexion contracture, Proximal muscle wea... OMIM:254940
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertrophic cardiomyopathy,... ORPHA:2348
Familial Thyroid Dyshormonogenesis
Bradycardia, Macroglossia ORPHA:95716
Cystinosis
Short stature, Muscle weakness, Delayed puberty, Myopathy, Portal hypertension ORPHA:213
Myotonic Dystrophy 2
Right bundle branch block, Proximal muscle weakness, Neck flexor weakness, Generalized amyotrophy... OMIM:602668
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Primary Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Coronary artery stenosis, Abnormality of the calf musculature, Abnormality of ... ORPHA:565612
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Leber Optic Atrophy
Myopathy, Arrhythmia OMIM:535000
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, External ophthalmoplegia, Weakness of facial musculature, Myopathy, Cardiomy... OMIM:201470
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb-girdle muscle weakness, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Limb mu... OMIM:112250
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Flexion contracture, Ventricular septal defect, Hypertension, Growth delay, I... OMIM:614653
Primary Lipodystrophy
Angina pectoris, Congestive heart failure, Hypertension, Myopathy, Skeletal muscle hypertrophy, C... ORPHA:90970
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... ORPHA:171881
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Stormorken Syndrome
Proximal muscle weakness, Short stature, Epistaxis, Myopathy, Subarachnoid hemorrhage OMIM:185070
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Hypertension ORPHA:363400
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... OMIM:606070
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Pr... ORPHA:423
Adrenomyodystrophy
Myopathy, Short stature ORPHA:977
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Mu... OMIM:616866
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Ventricular septal defect, Cardiac shunt, Heart murmu... ORPHA:860
Autosomal Dominant Optic Atrophy, Classic Form
Ophthalmoplegia, Weakness of facial musculature, Myopathy, Skeletal muscle atrophy, Scapular winging ORPHA:98673
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu... OMIM:619461
Glycogen Storage Disease Xii
Muscle fiber splitting, Increased variability in muscle fiber diameter, Short stature, Muscle wea... OMIM:611881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Neck flexor weakness, Rhabdomyolysis, Progressive... OMIM:157640
Carey-Fineman-Ziter Syndrome
Short stature, Aplasia of the pectoralis major muscle, Hypertensive crisis, Myopathy, Skeletal mu... ORPHA:1358
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Progressive external ophthalmoplegia OMIM:613077
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Generalized muscle weakness, Proximal muscle weakness, Muscle fiber ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Generalized muscle weakness, Proximal muscle weakness, Muscle fiber ... ORPHA:98914
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Combined Oxidative Phosphorylation Deficiency 55
Proximal muscle weakness, Short stature, Type 2 muscle fiber predominance, Progressive external o... OMIM:619743
Melas
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, Short stature, Abnormal ... ORPHA:550
Tetanus
Tachycardia, Bradycardia, Hypertension ORPHA:3299
Snakebite Envenomation
Hypotension, Rhabdomyolysis, Cerebral ischemia, Respiratory paralysis, Cardiogenic shock, Intracr... ORPHA:449285
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Muscle weakness, Myopathy, Arrhythmia, Cardiomyopathy ORPHA:157
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... ORPHA:1329
Scleroderma
Pulmonary arterial hypertension, Gastrointestinal telangiectasia, Flexion contracture, Interstiti... ORPHA:801
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Immunodeficiency 10
Myopathy OMIM:612783
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Bradycardia, Shock ORPHA:391673
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Ventricular arrhythmia, Supraventricular arrhythmia, Conges... ORPHA:280365
Triosephosphate Isomerase Deficiency
Congestive heart failure, Progressive muscle weakness, Muscle weakness, Myopathy, Skeletal muscle... OMIM:615512
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Cardiomyopathy OMIM:614922
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Proximal muscle weakness, Short stature, Gowers s... ORPHA:502423
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Flexion contracture, Gowers sign, Hypertrophic cardio... ORPHA:365
Congenital Myopathy 9A
Short stature, EMG: myopathic abnormalities OMIM:618822
Chylomicron Retention Disease
Myopathy, Growth delay, EMG: myopathic abnormalities ORPHA:71
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Postnatal growth retardation, Supraventricular arrhythmia, Syncope... ORPHA:75249
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Intrauterine growth retardation, Joint contracture, Arthrogryposis multiplex... OMIM:618397
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage OMIM:617397
D-Glyceric Aciduria
Bradycardia, Growth delay OMIM:220120
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Short stature, Bilateral wrist flexion contracture, Facial hy... ORPHA:97297
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Growth delay OMIM:608800
Leigh Syndrome
Multiple joint contractures, Ventricular septal defect, Ophthalmoplegia, Congestive heart failure... ORPHA:506
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Rhabdomyolysis, Hypertension, Hypertensive crisis, Arrhythmia, B... ORPHA:94093
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities ORPHA:684
Sanjad-Sakati Syndrome
Short stature, Myopathy, Postnatal growth retardation, Severe intrauterine growth retardation ORPHA:2323
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Short stature, Intracranial hemorrhage, Angina pectoris, Muscle weakness, Myopath... ORPHA:109
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping, Short stature OMIM:617302
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Xp21 Deletion Syndrome
Myopathy, Growth delay, Decreased muscle mass, Calf muscle hypertrophy ORPHA:261476
Lujo Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Muscle weakness, Myocarditis, Bradycardia ORPHA:319213
Xanthinuria, Type I
Myopathy OMIM:278300
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... OMIM:612949
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Type 1 muscle fiber predominance, Muscle weakness, Mitral regurgitation, Myopathy, Skeletal muscl... OMIM:614557
Acquired Generalized Lipodystrophy
Hypertension, Calf muscle pseudohypertrophy, Myopathy, Abnormal cardiovascular system physiology,... ORPHA:79086
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Arthrogryposis multiplex congenita, Muscle weakness, Myopathy, Abnormal he... ORPHA:2953
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive OMIM:615595
Localized Scleroderma
Flexion contracture, Raynaud phenomenon, Myopathy, Skeletal muscle atrophy, Arrhythmia, Vasculitis ORPHA:90289
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Rhabdomyolysis, Ventricular septal defect,... OMIM:614921
Pseudoachondroplasia
Disproportionate short-limb short stature, Skeletal myopathy ORPHA:750
Native American Myopathy
Muscle fiber atrophy, Short stature, Abnormality of skeletal muscle fiber size, Camptodactyly, Sk... ORPHA:168572
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Macroglossia ORPHA:90673
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Usher Syndrome
Abnormal cardiovascular system physiology, Hypertrophic cardiomyopathy, Myopathy ORPHA:886
Isolated Thyroid-Stimulating Hormone Deficiency
Growth delay, Bradycardia, Macroglossia ORPHA:90674
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... ORPHA:980
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Bradycardia ORPHA:221098
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... ORPHA:26793
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Sheehan Syndrome
Orthostatic hypotension, Muscle weakness, Bradycardia, Palpitations ORPHA:91355
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Generalized muscle weakness, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Elbow flexi... ORPHA:1900
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Rhabdomyolysis OMIM:145600
Wolfram Syndrome
Ophthalmoplegia, Delayed puberty, Myopathy, Gastrointestinal hemorrhage, Cardiomyopathy ORPHA:3463
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Proximal spinal muscular atrophy, EMG: myopathic abnormalit... ORPHA:1320
Sepsis In Premature Infants
Hypotension, Bradycardia, Tachycardia ORPHA:90051
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Short stature, Bicuspid aortic valve, Mu... ORPHA:536545
Vici Syndrome
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Atrial septal def... OMIM:242840
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Short stature, EMG: myopathic abnormalities ORPHA:2549
Crimean-Congo Hemorrhagic Fever
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... ORPHA:99827
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter, Growth delay, Short stature OMIM:617675
Hereditary Amyloidosis With Primary Renal Involvement