Gene Summary

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

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 50% (2 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 Not available
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 Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

48 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

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
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Difficulty... ORPHA:609
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Difficulty walking, R... ORPHA:603
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Endocardial fibrosis, Lef... OMIM:601493
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Dysphagia, Centrally nu... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Nemaline Myopathy 6
Gait disturbance, Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Vacuolar Neuromyopathy
Scapular winging, Dysphagia, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shou... OMIM:601846
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Central Core Disease Of Muscle
Congenital hip dislocation, Centrally nucleated skeletal muscle fibers, Central core regions in m... OMIM:117000
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Steppage gait, Hi... ORPHA:602
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Tall stature, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy,... ORPHA:1878
Inclusion Body Myositis
Dysphagia, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Leg muscle stiffness, Abnormal pyramidal sign, Lower limb spasticity... ORPHA:320360
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Type 1 muscle fiber predominance, ... OMIM:618655
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Steppage gait, Flexion contracture, Lower limb muscle... OMIM:300695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, F... OMIM:618848
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Gait disturbance, Musc... ORPHA:178464
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscl... ORPHA:399103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Gait disturbance, Myopathy, Muscle fiber splitting OMIM:618129
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Dysphagia, Increased endomysia... ORPHA:266
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Arrhythmia, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Dysphagia, Loss of ability to walk, Skeletal muscle fibrosis, R... ORPHA:34516
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, M... OMIM:158810
Nemaline Myopathy 7
Myofibrillar myopathy, Gait disturbance, Nemaline bodies, Minicore myopathy OMIM:610687
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Dysphagia, Gait d... ORPHA:276435
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Centrally nucleated skeletal muscle fibers, Flexion contractu... OMIM:618484
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Difficulty walking, L... ORPHA:399081
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Talipes equi... OMIM:208100
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Myopathy, Spheroid Body
Proximal amyotrophy, Dysphagia, Waddling gait, Skeletal muscle atrophy, Myopathy, Broad-based gait OMIM:182920
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Weakness of the intrinsic hand m... ORPHA:98912
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Spastic paraparesis, Spastic tetraparesis, Lower limb hypertonia, A... ORPHA:3208
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Fa... OMIM:619048
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Arrhythm... OMIM:181350
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Decreased muscle mass, Ventricular hypertrophy, Arrhy... ORPHA:263297
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy, Scapular winging, Nemaline bodies, Facial palsy OMIM:617336
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Ataxia OMIM:545000
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Difficulty walking, S... ORPHA:399086
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Chorea, Limb-girdle muscular dystrophy, Hyperkinetic movements, Exercise-induced ... ORPHA:369847
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Difficulty walking, Dysphagia, Muscle fiber inclus... ORPHA:399058
Marinesco-Sjogren Syndrome
Gait ataxia, Short metatarsal, Limb ataxia, Flexion contracture, Centrally nucleated skeletal mus... OMIM:248800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Unsteady gait, Waddling gait, Rimmed vacuoles, Myopathy, Increase... OMIM:612937
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Ragged-red muscle fibers OMIM:500003
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Type 1 muscle fiber predominanc... ORPHA:424107
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Centrally nucleated skeletal muscle fibers, Central core regions in... ORPHA:401768
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Increased QRS voltage, Left ventricu... OMIM:619040
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Waddling gait, Skeletal muscle ... OMIM:256030
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, Multiple jo... ORPHA:486815
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart morphology OMIM:618250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Multiple joint contractures, Distal... ORPHA:98911
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Lethargy, Internally nucleated skeletal muscle fibers ORPHA:324581
Mental Retardation, Autosomal Recessive 3
Hypomimic face, Hyperactivity OMIM:608443
Myopathy, Congenital, With Fiber-Type Disproportion
Congenital hip dislocation, Dysphagia, Centrally nucleated skeletal muscle fibers, Type 1 fibers ... OMIM:255310
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dysphagia, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdl... OMIM:603511
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Inability to walk, Dysphagia, Myopathy OMIM:616321
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging... ORPHA:171439
Myopathy, Distal, 3
EMG: myopathic abnormalities, Split hand, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Pelvic girdle muscle atrophy, Gait di... OMIM:167320
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Waddling gait, Rimme... OMIM:616924
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Ataxia, Spasticity OMIM:614458
Ataxia, Deafness, And Cardiomyopathy
Ataxia, Cardiomyopathy OMIM:208750
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies, Failure to thrive OMIM:618246
Myasthenic Syndrome, Congenital, 25, Presynaptic
Dysphagia, Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Pleoconial Myopathy With Salt Craving
Myopathy, Salt craving, Proximal amyotrophy OMIM:262900
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Unsteady gait, Calf muscle pseudohypertrophy, Waddling gait, Redu... ORPHA:280333
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Hepatomegaly, Fasciculations, Myopathy, Cardiomyopathy OMIM:610717
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Waddling gait, Myopathy OMIM:605637
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Dysphagia, Flexion contracture, Dis... OMIM:609284
Bethlem Myopathy 2
Hip dislocation, Myopathy, Scapular winging, Flexion contracture OMIM:616471
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
X-Linked Intellectual Disability, Hedera Type
Apraxia, Extrapyramidal muscular rigidity, Hypomimic face, Slurred speech, Action tremor, Left ve... ORPHA:93952
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Increased mus... OMIM:123320
Combined Oxidative Phosphorylation Deficiency 44
Slurred speech, Hypertrophic cardiomyopathy OMIM:618855
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle... ORPHA:34515
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Proximal muscle weakness in ... OMIM:619216
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
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Increased intramyocellular lipid droplets, Arrhythmia, Abnormal heart morpholog... ORPHA:26791
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Waddling gait, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Paralysis, Myocardial infarction, Supraventricular tachycardia, Ab... ORPHA:90064
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Myopathy, Myofibrillar, 8
Scapular winging, Dysphagia, Centrally nucleated skeletal muscle fibers, Joint contracture of the... OMIM:617258
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Hypertension OMIM:616733
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Myopathy, Distal, 1
Gait disturbance, Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy... OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Spinal Muscular Atrophy, Jokela Type
Tremor, Spinal muscular atrophy, Skeletal muscle atrophy, Fasciculations, Calf muscle hypertrophy OMIM:615048
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Periodic hypokalemic... ORPHA:681
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babinski sign, Dilated cardio... ORPHA:263494
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Nemaline Myopathy 8
Dysphagia, Flexion contracture, Nemaline bodies, Facial palsy, Myofibrillar myopathy OMIM:615348
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Left ve... OMIM:163800
B4Galt1-Cdg
Myopathy ORPHA:79332
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Failure to thrive OMIM:616974
Autosomal Recessive Centronuclear Myopathy
Talipes equinovarus, Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle ... ORPHA:169186
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Dysphagia, Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:603034
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu valgum, Abnormality of epiphysis morphology, Abnormality of radial epiphyses, Abnormality of... ORPHA:166002
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614582
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Spastic diplegia, Ataxia, Left ventricular hypertrophy, Myoclonus, Babinski sign, Pro... ORPHA:401866
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Diaphragmatic paralysis, Muscular dystrophy, Generalized amyotrophy... OMIM:612954
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Tetraparesis, Reduced systolic function, Triangular tongue, Ske... OMIM:616827
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Loss of abili... OMIM:616812
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Difficulty walking, Quadriceps muscle weakness, Pelvic girdle muscle weakness, ... OMIM:603689
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Difficulty walking, Centrally nucleated skeletal muscle fibers, Typ... ORPHA:169189
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Difficulty walking, Gait disturbance, Multiple joint contractures, Myopathy, Limb-... ORPHA:352470
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Nemaline Myopathy 4
Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fiber predominance, Nema... OMIM:609285
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:615355
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Dilated cardiomyopathy, Proximal amyotrophy, Left ventricular systolic dysfunct... ORPHA:206559
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Waddling gait, Decreased cervical spine... OMIM:310300
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Ataxia, Failure to thrive in infancy, Increa... OMIM:619065
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Clinodactyly, Syndactyly, Myopathy, Brachydactyly OMIM:610140
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Left ventricular noncompaction, Failure to thrive, Hypertrophic cardiomyopathy OMIM:617228
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Tangier Disease
Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertrophy, Splenomegal... OMIM:205400
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Ataxia, H... OMIM:619167
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Frequent falls, Rhabdomyolysis, Lower limb muscle weakness, Tricuspid regurgitation, ... ORPHA:746
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Waddling gait, Ragged-red muscle fibers, Limb-girdle muscl... OMIM:616228
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Muscular dystrophy, Atrial flutter, Peric... ORPHA:300751
Rigid Spine Syndrome
Hamstring contractures, Waddling gait, Skeletal muscle atrophy, Hip contracture, Myopathy, Elbow ... ORPHA:97244
Central Core Disease
Congenital hip dislocation, Central core regions in muscle fibers, Pelvic girdle muscle weakness,... ORPHA:597
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Congestive heart failure, Failure to thrive, Myopathy, Hypertrophic cardiomyopathy OMIM:618234
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Rhabdomyolysis, Tachycardia, Glycogen accumulation in muscle f... ORPHA:368
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting,... OMIM:609452
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Wolff-Parkinson-White syndrome, Ge... OMIM:300257
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Spasticity, Abnormal mitochondria... OMIM:252011
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Facial palsy, Failure to thrive, Myopathy, Cardiomyopathy OMIM:201470
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Spinal muscular atrophy OMIM:182980
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Difficulty walking, ... ORPHA:353327
Myopathy And Diabetes Mellitus
Inability to walk, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscl... ORPHA:2596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Talipes cavus equinovarus, Weakness of o... ORPHA:59135
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Frequent falls, Flexion contracture, Increased variability in muscle fibe... OMIM:300718
Neuronopathy, Distal Hereditary Motor, Type Iid
Spinal muscular atrophy, Weakness of the intrinsic hand muscles, Lower limb muscle weakness, Tric... OMIM:615575
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Myopat... ORPHA:119
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Muscular dystrophy, Limb-girdle muscular dystrophy, Waddling ... ORPHA:369840
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Stormorken Syndrome
Increased muscle fatiguability, Myopathy, Epistaxis OMIM:185070
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Skeletal muscle atrophy ORPHA:85162
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Dysphagia, Ataxia, Bradykinesia, Facial palsy, Myopathy, ... ORPHA:254886
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Hepatomegaly, Tachycardia, Large for gestational age, Hypertrophic cardiom... ORPHA:276556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Congenital muscular dystro... ORPHA:370980
Thyrotoxic Periodic Paralysis
Palpitations, Abnormal muscle fiber morphology, Tremor, Increased intramyocellular lipid droplets... ORPHA:79102
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Spastic gait, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Spastic... OMIM:615474
Pure Mitochondrial Myopathy
Scapular winging, Proximal amyotrophy, Quadriceps muscle weakness, Rhabdomyolysis, Pelvic girdle ... ORPHA:254854
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Skeletal muscle atrophy, Tetraplegia, Fasciculations, Ragged-red muscle fi... OMIM:300816
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Loss of ability to walk in early childhood, Gene... OMIM:609560
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Hypertonia, Failure to thrive, Cardiomyopathy ORPHA:26792
Congenital Fibrinogen Deficiency
Internal hemorrhage, Opisthotonus, Tachycardia, Right ventricular hypertrophy, Left ventricular h... ORPHA:335
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Myopathy, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Myopathy, Gait ataxia OMIM:613077
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Hepatomegaly, Tachycardia, Large for gestational age, Hypertrophic cardiom... ORPHA:276575
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly, Contractures of the large joints, Spasticity OMIM:300886
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Distal amyotrophy, Myoclonus, Babinski sign, Fasciculations, Frequen... OMIM:607317
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Hepatomegaly, Tachycardia, Large for gestational age, Hypertrophic cardiom... ORPHA:276580
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Waddling gait, Myopathy OMIM:602541
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Left ... OMIM:301500
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Snakebite Envenomation
Cardiogenic shock, Pseudobulbar paralysis, Intracranial hemorrhage, Hypotension, Rhabdomyolysis, ... ORPHA:449285
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Rigidity, Hypert... OMIM:161800
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy ORPHA:91130
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Microcephaly, Seizures, And Developmental Delay
Ataxia, Skeletal muscle atrophy, Hyperactivity OMIM:613402
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Pituitary Gigantism
Tall stature, Left ventricular hypertrophy, Proportionate tall stature, Hypertrophic cardiomyopathy ORPHA:99725
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Dysphagia, ... ORPHA:171433
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Split hand, Flexion contracture, Nemaline bodies, Distal amyotrophy, Facial palsy, Hypotrophy of ... OMIM:607684
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Hypophosphatasia, Childhood
Myopathy, Bowing of the legs, Waddling gait OMIM:241510
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Flexion contracture, Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:157973
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Small for gestational age, Conge... OMIM:615368
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Arrhythmia, Dilated cardiomyopathy, Overweight, Ventricular septal defect, ... ORPHA:26793
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Abnormality of extrapyramid... ORPHA:254892
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Mitral regurgitation, Bradykinesia, Gener... OMIM:258450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle musc... OMIM:613818
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Ventricular septal defect, Wolff-Parkinson-White syndrome, Abnormal pyram... OMIM:614947
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia, Gait disturbance ORPHA:2349
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Vocal cord paralysis, Elbow flexion... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Vocal cord paralysis, Elbow flexion... ORPHA:98853
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Rhabdomyolysis, Weight loss, Tachycardia, Periodic paralysis OMIM:188580
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Limb dysmetria, Abnormal pyramidal sign, Abnormal atrioventricular conduction, Skeletal muscle at... ORPHA:329336
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Duchenne Muscular Dystrophy
Cardiomyopathy, Calf muscle hypertrophy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Difficulty walking, Dysphagia, Flexion contracture, Increased Z... OMIM:617114
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Distal amyotrophy, Myopathy, Cardiomyopathy OMIM:232400
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Myopathy, Ataxia OMIM:618242
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Knee flexion ... OMIM:602484
Trimethylaminuria
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Leber Hereditary Optic Neuropathy
Myopathy, Ataxia ORPHA:104
Familial Dyskinesia And Facial Myokymia
Chorea, Facial myokymia, Resting tremor, Limb hypertonia, Congestive heart failure, Myoclonus, Di... ORPHA:324588
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Exercise-induced muscle fatigue, Rhabdomyolysis, Ataxia, Myopathy ORPHA:713
Neurogenic Arthrogryposis Multiplex Congenita
Abnormal heart morphology, Flexion contracture, Lower limb muscle weakness, Wrist flexion contrac... ORPHA:1143
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue, Rhabdomyolysis ORPHA:2364
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Coproporphyria, Hereditary
Hypertension, Respiratory paralysis, Hepatomegaly, Tachycardia, Splenomegaly OMIM:121300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Failure to t... OMIM:302060
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Duchenne And Becker Muscular Dystrophy
Slender long bone, Gait disturbance, Myopathy, Skeletal muscle atrophy ORPHA:262
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, General... ORPHA:324604
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Multiple joint ... OMIM:301830
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Cardiomyopathy, Splenomegaly OMIM:608540
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Congestive heart failure, Rimmed vacuoles, ... ORPHA:52430
Adducted Thumbs Syndrome
Dysphagia, Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Disproportionate tall stature, Skeletal muscle atrophy ORPHA:300179
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Spasticity, Telangiectasia... ORPHA:79279
Refsum Disease, Classic
Arrhythmia, Ataxia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardiac... OMIM:614921
Xp21 Deletion Syndrome
Decreased muscle mass, Increased muscle fatiguability, Calf muscle hypertrophy, Myopathy, Spasticity ORPHA:261476
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Upper limb amyotrophy, Lower limb muscle weakness, Limb fasciculations ORPHA:99940
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Typical Nemaline Myopathy
Genu valgum, Arthrogryposis multiplex congenita, Facial diplegia, Gait disturbance, Flexion contr... ORPHA:171436
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Prolonged QT interval, Left ventricular hypertr... ORPHA:251274
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Arrhythmia, Hypertonia, Abnormal pyramidal sign, Ataxia, Hemiplegia/h... ORPHA:96
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Scapuloperoneal Spinal Muscular Atrophy
Hip dysplasia, Scapular winging, Peroneal muscle atrophy, Broad-based gait, Amyoplasia, Progressi... OMIM:181405
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Dysphagia, Proximal muscle weakness in lower limb... ORPHA:206569
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Abnormal heart morphology, Poor motor coordination, Poor fine motor coordination, Tac...