Gene Summary

Name:
synemin, intermediate filament protein
Synonyms:
Dmn,  Synemin,  4930412K21Rik

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
abnormal vocalization Synmtm1.1(KOMP)Vlcg HOM Early adult 2.94×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images  Section images heterozygote 50% (2 of 4)
Cecum  Wholemount images  Section images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Duodenum  Wholemount images  Section images heterozygote 100% (4 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images  Section images heterozygote 75% (3 of 4)
Eye  Wholemount images  Section images heterozygote 75% (3 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Gonadal fat pad  Wholemount images  Section images heterozygote 75% (3 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Ileum  Wholemount images  Section images heterozygote 100% (4 of 4)
Jejunum  Wholemount images  Section images heterozygote 100% (4 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Lung  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 75% (3 of 4)
Mesenteric lymph node  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Ovary  Wholemount images  Section images heterozygote 50% (2 of 4)
Oviduct  Wholemount images  Section images heterozygote 50% (2 of 4)
Pancreas  Wholemount images heterozygote 25% (1 of 4)
Penis  Wholemount images heterozygote 25% (1 of 4)
Prostate gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Quadriceps  Wholemount images  Section images heterozygote 100% (4 of 4)
Sciatic nerve  Section images heterozygote 50% (2 of 4)
Skin  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images  Section images heterozygote 100% (4 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Submandibular gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images  Section images heterozygote 100% (4 of 4)
Thyroid gland  Wholemount images heterozygote 50% (2 of 4)
Tongue  Wholemount images  Section images heterozygote 100% (4 of 4)
Trachea  Wholemount images  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (4 of 4)
Uterus  Wholemount images  Section images heterozygote 50% (2 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 25% (1 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood 0.0%
bone marrow 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
diaphragm 0.0%
duodenum 3.82% (5 of 131)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
ileum 13.33% (16 of 120)
jejunum 9.23% (12 of 130)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 292)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

161 Images

Adult LacZ

LacZ Images Wholemount

48 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Synm mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Left atrial enlargement, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular hypertrop... OMIM:604169
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Cardiomyop... OMIM:609200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Dysphagia... OMIM:601846
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Inclusion Body Myositis
Dysphagia, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Leg m... ORPHA:320360
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Atrial Standstill
Hemiplegia, Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Redu... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Distal Nebulin Myopathy
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foo... ORPHA:399103
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy OMIM:255100
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... ORPHA:217607
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Heart murmur, Ragged-red muscle fiber... OMIM:615418
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle ... OMIM:208100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... ORPHA:1878
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... ORPHA:98912
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Ataxia, Spastic paraparesis, Left ventricular hypertrophy, Ba... ORPHA:3208
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... ORPHA:85451
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Exercise-induced muscle fatigue, Limb-girdle musc... ORPHA:369847
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestiv... OMIM:619048
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Talipes equinovarus, Flexi... OMIM:618484
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... ORPHA:263297
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Hip dislocation, Scapular wi... OMIM:616471
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... OMIM:619040
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Myopathy, Cardiomyopathy, Cardiomegaly OMIM:617713
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Flexion contrac... OMIM:602771
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hypertonia, Bradycardia OMIM:614654
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... ORPHA:563
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Hypomimic face OMIM:608443
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... ORPHA:98911
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Multiminicore Myopathy
Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... ORPHA:598
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Congenital ... OMIM:255310
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyo... OMIM:619903
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Pleoconial Myopathy With Salt Craving
Salt craving, Myopathy, Proximal amyotrophy OMIM:262900
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Adult-Onset Nemaline Myopathy
Nemaline bodies, Neuromuscular dysphagia, Flexion contracture, EMG: myopathic abnormalities, Incr... ORPHA:171442
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:424107
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Dysphagia, Generalized amyotrophy, Flexion contracture OMIM:618323
Ataxia, Deafness, And Cardiomyopathy
Ataxia, Cardiomyopathy OMIM:208750
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy, Increased muscle fatiguability OMIM:615511
Myopathy, Spheroid Body
Dysphagia, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... OMIM:609284
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, ... OMIM:611615
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Neuropathy, Hereditary Motor, With Myopathic Features
Talipes equinovarus, Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic... OMIM:619216
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy, Slurred speech OMIM:618855
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Marinesco-Sjogren Syndrome
Failure to thrive, Coxa valga, Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal... OMIM:248800
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
X-Linked Intellectual Disability, Hedera Type
Action tremor, Extrapyramidal muscular rigidity, Dysmetria, Left ventricular hypertrophy, Babinsk... ORPHA:93952
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... ORPHA:399081
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Myopathy, Myofibrillar, 8
Nemaline bodies, Tall stature, Scapular winging, Joint contracture of the 5th finger, Limb muscle... OMIM:617258
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... OMIM:255160
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Myopathy, Centronuclear, 2
Talipes equinovarus, Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial ... OMIM:255200
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... OMIM:167320
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Exercise-induced muscle fatigue, Arrhythmia, Increased intramyocellular lipid dropl... ORPHA:26791
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal amyotrophy OMIM:182980
Nemaline Myopathy 2
Slender build, Nemaline bodies, Hand clenching, Flexion contracture, Weakness of facial musculatu... OMIM:256030
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Talipes equinovarus, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Dysphagia, Facial palsy OMIM:615348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Spinal muscular atrophy, Tremor, Fasciculations, Skeletal muscle atrophy OMIM:615048
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Respiratory paralysis, Periodic hypokalemic paresis, Increased ... ORPHA:681
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture, Small for gestational age OMIM:616733
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Diaphragmatic paralysis ORPHA:868
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Increased muscle lipid content, Fasciculations, Cardiomyopathy, Myopathy OMIM:610717
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Limb muscle weakness, Dysphagia, Decreased muscle mass, Myopathy OMIM:603034
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Failure to thrive OMIM:616974
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babi... ORPHA:263494
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Abnormality of the epiphyses of the feet, Genu varum, Arthra... ORPHA:166002
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Left ventricular hypertrophy, Spastic diplegia, Babinski sign, Myoclonus, Spa... ORPHA:401866
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Tetraparesis, Dilat... OMIM:616827
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Neuromuscular dysphagia, Flexion contracture, EM... ORPHA:171439
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Ataxia, Intention tremor, Left ventricular hypertrophy, Truncal ataxia, Gait ataxia, Spasticity, ... OMIM:614458
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Failure to thrive, Right ventricular hypertrophy, Left ventricula... ORPHA:444013
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Diaphragmatic paralysis,... OMIM:612954
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... ORPHA:178400
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy OMIM:253320
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Clinodactyly, Myopathy OMIM:610140
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Nemaline Myopathy 7
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... OMIM:610687
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... ORPHA:75840
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Talipes equi... ORPHA:597
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, EMG: myopathic abnormalities, Myocardial nec... OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... OMIM:617336
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Noonan Syndrome 8
Failure to thrive, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral ... OMIM:615355
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Failure to thrive, Hypertonia OMIM:617228
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... OMIM:205400
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... OMIM:603511
King-Denborough Syndrome
Failure to thrive, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type ... OMIM:619542
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Cardiomyopathy OMIM:619647
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Hepatomegaly, Tricuspid regurgitation, Left ventricular hypertrophy, Left ventricular non... OMIM:619167
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Cardiomyopathy, Tremor OMIM:619651
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Talipes equinovarus, Left ventricular hypertrophy, Facial palsy... ORPHA:169186
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... OMIM:609452
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Dysphagia, Clubbing of fingers, Central... OMIM:619574
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Facial palsy, Cardiomyopathy, Myopathy OMIM:201470
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, Babinski sign, Arrhy... ORPHA:746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... OMIM:613155
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... OMIM:615575
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Skeletal muscle atrophy ORPHA:85162
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Stormorken Syndrome
Epistaxis, Myopathy, Increased muscle fatiguability OMIM:185070
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, Talipes equinovarus, EMG: myopathic abnormalities, Diap... OMIM:614399
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Flexion contracture, Left ventricular noncompaction, Myoclonus, Babinski sign, Truncal at... OMIM:252011
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content, Tachycardia, ... ORPHA:368
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Exercise-induced muscle fatigue, Respiratory paralysis, Palpita... ORPHA:79102
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Dysphagia,... OMIM:606070
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Failure to thrive, Rimmed vacuoles, Centrally nucleat... OMIM:619518
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Congenital Fibrinogen Deficiency
Opisthotonus, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal ... ORPHA:335
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Leber Hereditary Optic Neuropathy
Ataxia, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Postural tremor, Myopathy ORPHA:104
Ethanolaminosis
Cardiomegaly OMIM:227150
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Abnormal pyramidal sign, Incoordination, Ventricular sept... OMIM:614947
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Elbow flexion contracture, Skeletal muscle atrophy, Myop... ORPHA:97244
Pure Mitochondrial Myopathy
Exercise-induced muscle fatigue, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Frequ... ORPHA:254854
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left v... ORPHA:308552
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Fasciculations, Myocardial infarction,... OMIM:301500
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Limb-girdle muscle weakness, Myopathy ORPHA:352470
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Cerebral palsy, Athetosis, Ventricular septal defect, Biventricular... OMIM:615474
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Distal amyotrophy, Frequent falls, Tremor, Gait ataxia, Spastic... OMIM:607317
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ataxia, Gait ataxia, Myopathy, Increased muscle fatiguability OMIM:613077
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... OMIM:609285
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricular outf... OMIM:619402
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cardiomyopathy, Myopathy, Hypertonia ORPHA:26792
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Parkinsonism with favorable response to dopam... ORPHA:254886
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... ORPHA:276575
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... OMIM:212138
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Patent ductus ... OMIM:613870
Nemaline Myopathy 3
Slender build, Nemaline bodies, Hypertonia, EMG: myopathic abnormalities, Rigidity, Type 1 muscle... OMIM:161800
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... ORPHA:276580
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Small fo... OMIM:615368
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Snakebite Envenomation
Muscle fiber necrosis, Pseudobulbar paralysis, Respiratory paralysis, Intracranial hemorrhage, Ta... ORPHA:449285
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Small for gestational age, Tachycardia, Exercise-induced rhab... ORPHA:26793
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Weakness of facial musculature, Abnormal pyramidal sign, Limb dysmetria, Abnormal atrioventricula... ORPHA:329336
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Quadriceps muscle weakness, Tremor, Cogwheel rigidity, Reduced left vent... ORPHA:254892
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Tall stature, Proportionate tall stature ORPHA:99725
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Glycogen Storage Disease Iii
Hepatomegaly, Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy OMIM:232400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Myoclonus, Facial myokymia, Chorea, Dilated cardiomyopathy, Cong... ORPHA:324588
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... ORPHA:370980
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Ankle flexion contracture, Flexion contracture, Fasciculations, Lower limb muscl... ORPHA:1143
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Flexion contracture, Spastic tetraplegia, Hypertrophic cardiomyopathy, Myopathy OMIM:618237
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... OMIM:115197
Spinal Muscular Atrophy, Type Iii
Hand tremor, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Limb fasciculations, Lower ... OMIM:253400
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Opisthotonus OMIM:616896
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... OMIM:500009
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture ORPHA:98896
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Skeletal muscle atrophy OMIM:613402
Myopathy And Diabetes Mellitus
Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of orbicularis oculi musc... ORPHA:2596
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy ORPHA:369840
Trimethylaminuria
Hypertension, Tachycardia, Splenomegaly OMIM:602079
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Palpitations, Tachycardia, Rhabdomyolysis, Weight loss OMIM:188580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, Failur... OMIM:619065
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Tachycardia, Hemiparesis, Lower limb muscle weakness, Tremor, Obesity OMIM:619737
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Tremor, Rhabdomyolysis, Exercise-induced muscle fatigue, Myopathy ORPHA:713
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Narrow pelvis bone,... OMIM:602484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Exercise-induced muscle fatigue ORPHA:2364
Coproporphyria, Hereditary
Hepatomegaly, Respiratory paralysis, Splenomegaly, Tachycardia, Hypertension OMIM:121300
Adducted Thumbs Syndrome
Myopathy, Dysphagia, Arthrogryposis multiplex congenita OMIM:201550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy, Disproportionate tall stature ORPHA:300179
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Cardiomyopathy, Dilated, 1S