Gene Summary

Name:
ryanodine receptor 1, skeletal muscle
Synonyms:
calcium release channel isoform 1,  skrr,  Ryr

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
increased spleen weight Ryr1tm1b(EUCOMM)Hmgu HET Early adult 2.22×10-15
increased respiratory quotient Ryr1tm1b(EUCOMM)Hmgu HET   Early adult 5.74×10-05
preweaning lethality, complete penetrance Ryr1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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 heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 50% (1 of 2)
Heart N/A heterozygote Not available
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
bone 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 574)
oral epithelium 0.0%
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
uterus 0.35% (2 of 579)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Wholemount

7 Images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Ryr1 mutations

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

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

The table below shows human diseases associated to Ryr1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Failure to thrive,... ORPHA:424107
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... ORPHA:597
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Increased vari... ORPHA:98905
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Centrally nucleated skeletal muscle fibers, Internally nu... ORPHA:324581
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Talipes equinovarus, Left ventricular hypertrophy, Facial palsy... ORPHA:169186
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Metabolic acidosis, Hypercapnia, Tachypnea, Hyperphospha... ORPHA:423
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Elevated circulating cre... OMIM:619542
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Crackles, Elevated circulating creatine kinase concentration, Tachypnea, Hyperphosp... ORPHA:466650

The table below shows human diseases predicted to be associated to Ryr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... ORPHA:609
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... OMIM:616199
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Increased variability in muscle fiber diamet... ORPHA:178464
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... OMIM:617030
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Elevated circulating creatine kinase concentration, Neck... OMIM:616209
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... OMIM:254110
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... ORPHA:611
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Elevated circulating creatine kinase concentration... OMIM:605820
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:609115
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotrophy, Pro... OMIM:609200
Vacuolar Neuromyopathy
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase... OMIM:601846
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Proximal muscle weakness in lower limbs, Weakness of facial muscu... ORPHA:457050
Myopathy, Myosin Storage, Autosomal Dominant
Scapuloperoneal weakness, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle we... OMIM:608358
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Weakness of orb... OMIM:500002
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Inability to walk, Reduced vital capacity, EMG: myopathic... ORPHA:266
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Proximal muscle weakness, EMG: myopathic abnormalities, Increased variability in muscle fiber dia... ORPHA:397744
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber splitting... OMIM:609524
Nemaline Myopathy 6
Nemaline bodies, Neck flexor weakness, Gait disturbance, Limb muscle weakness, Myopathy OMIM:609273
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Gowers sign, Weakness of facial musculatur... OMIM:610687
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis, Gait disturbance, Abdominal wall muscle weakness, Muscle fiber splittin... OMIM:618129
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Reduced muscle carnitine level, Myopathy OMIM:212160
Salih Myopathy
Flexion contracture, Mitochondrial depletion, Calf muscle hypertrophy, Elevated circulating creat... OMIM:611705
Welander Distal Myopathy
Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Myopathy, Centronuclear, 1
Proximal muscle weakness, Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnorm... OMIM:160150
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... OMIM:301075
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Bethlem Myopathy 1
Torticollis, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Distal m... OMIM:158810
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Respiratory insufficiency, Increas... OMIM:619042
Myopathy, Distal, 4
Proximal muscle weakness, Abnormality of the calf musculature, Mildly elevated creatine kinase, M... OMIM:614065
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Failure to thrive,... ORPHA:424107
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Reduced vital capacity, Calf muscle hypertrophy, Rimmed vacuoles, Distal muscle weakness, Scolios... OMIM:617760
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... OMIM:300718
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Multiminicore Myopathy
Respiratory insufficiency due to muscle weakness, Failure to thrive, Abnormal muscle fiber morpho... ORPHA:598
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Elevated circulating creatine kinase concentration, Scapuloperoneal myopathy... OMIM:300695
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Bethlem Myopathy 2
Kyphosis, Proximal muscle weakness, Flexion contracture, Increased variability in muscle fiber di... OMIM:616471
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Gowers sign, Poor head control, Spinal rigidity, Respira... ORPHA:97244
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Scoliosis, Muscle fiber inclusion bodies, Waddling gait, Proximal muscle ... OMIM:605637
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Myopathy, Distal, With Anterior Tibial Onset
Distal muscle weakness, Elevated circulating creatine kinase concentration, Myopathy, Distal amyo... OMIM:606768
Nemaline Myopathy 2
Apnea, Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber d... OMIM:256030
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Proximal muscle weakness, Back pain, Spinal rigidity, Skeletal muscle hyp... OMIM:300696
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakne... OMIM:603689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Increased variabilit... OMIM:618992
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myopathy OMIM:609500
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... ORPHA:97240
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Myopathy, Spheroid Body
Broad-based gait, Distal muscle weakness, Neck flexor weakness, Tremor, Muscle weakness, Waddling... OMIM:182920
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Increased variability in muscle fiber diameter, Difficul... ORPHA:86812
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, P... OMIM:300717
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Distal upper limb muscle weakness, Spinal rigidity, Skeletal muscle hypertrop... OMIM:619566
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Reduced vital capacity, Thoracic kyphoscoliosis, Neck flexor ... ORPHA:98913
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal upper limb muscle weakness, Fiber type grouping, Interosseus muscle atrophy, Mitochondrial... OMIM:500013
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulatin... OMIM:612937
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Elevated circulating creatine kinase concentra... ORPHA:270
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... ORPHA:399103
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Reduced vital capacity, Increased variability in muscle f... OMIM:602771
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Elevated circulating creatine kinase... OMIM:619518
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Myosit... OMIM:615422
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Gowers sign, Limb-girdle muscle weakness, Progressive... ORPHA:352470
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... OMIM:619477
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Muscle weakness, Myopathy OMIM:545000
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, Diaphragmatic weakness, Poor head control, Failure t... OMIM:614399
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... OMIM:609284
Combined Oxidative Phosphorylation Deficiency 49
Elevated circulating creatine kinase concentration, Progressive muscle weakness, Ragged-red muscl... OMIM:619024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Gowers sign, Reduced vital capacity, Flexion co... OMIM:609285
Myotonia Congenita, Autosomal Dominant
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myot... OMIM:160800
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, E... ORPHA:684
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Merrf
Ragged-red muscle fibers, Ataxia, Multiple lipomas, Myopathy ORPHA:551
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Progressive pr... OMIM:167320
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Lumbar hyperlordosis, Poor head control, Flexion contracture, Distal muscle weakness... ORPHA:353327
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... ORPHA:1878
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Elevated circulating creatine... OMIM:609452
Adult-Onset Nemaline Myopathy
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Bradykinesia, Reduced vital ca... ORPHA:171442
Immunodeficiency 108 With Autoinflammation
Recurrent fever, Fever OMIM:260570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Loss of ambulation, Abnormality o... ORPHA:399081
Nemaline Myopathy 3
Neck flexor weakness, Limb muscle weakness, Bulbar palsy, Slender build, Hypertonia, Rigidity, Sc... OMIM:161800
Childhood-Onset Nemaline Myopathy
Facial diplegia, Reduced vital capacity, Increased variability in muscle fiber diameter, Difficul... ORPHA:171439
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Respiratory insuff... OMIM:603034
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Lower limb muscle weakness, Spastic paraplegia, Gait disturba... OMIM:611225
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Clumsiness, Joint contracture of ... ORPHA:399086
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... OMIM:617072
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Lumbar hyperlordosis, Proximal muscle weakness, Tip-toe gait, To... OMIM:160500
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration, L... OMIM:254130
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Difficulty walking, Proximal muscle weakness, Res... OMIM:617087
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Gowers sign, Lumbar hyperlordosis, Calf muscle hypertrop... ORPHA:280333
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight, Ty... OMIM:300580
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy, Proximal muscle weakness OMIM:255140
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... ORPHA:238329
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... OMIM:160565
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Gowers sign, Increased endomysial connective tissue, Lumbar hyperlordosis, Macr... ORPHA:353
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal muscle weakness, Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal ... OMIM:158580
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Loss of ambulation, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic... OMIM:603511
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Ragged-red muscle fibers, Decreased activity of mitochondrial complex I... OMIM:300816
Myopathy And Diabetes Mellitus
Respiratory distress, Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Progressive... ORPHA:2596
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... OMIM:208081
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Babinski ... OMIM:616924
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Scoliosis, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Scoliosis, Fatigable weakness, Hyp... OMIM:616228
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... OMIM:605355
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal m... ORPHA:75840
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 Dominant 2
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609283
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... OMIM:605809
Myopathy, Distal, 3
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... OMIM:610099
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Loss of ambulation, F... OMIM:253700
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:486815
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... ORPHA:98911
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Babinski sign, Lower limb spasticity, Bulbar palsy, Achi... OMIM:615290
Myotonia Congenita, Autosomal Recessive
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Myotonia, Muscle hypertrophy of th... OMIM:255700
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Progressive proximal musc... ORPHA:254875
Rippling Muscle Disease 2
Abnormal skeletal muscle morphology, Percussion-induced rapid rolling muscle contractions, Muscle... OMIM:606072
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Muscle weakness, Myopathy OMIM:616314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased serum pyruvate, Elevated circulating c... OMIM:500009
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG: myopathi... OMIM:255200
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles of ... OMIM:608634
Pleoconial Myopathy With Salt Craving
Proximal muscle weakness, Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Skeletal muscle hypertrophy OMIM:600332
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in l... OMIM:618138
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, Elevated creatine kinase after exercise, EMG: myopathic abnormalities, Exer... ORPHA:57
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Ankle clonus, Increased variability in muscle fiber diam... OMIM:613954
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Spinal rigidity, Flexion contracture, Cachexia, Respiratory insufficiency, Hyp... ORPHA:157973
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, Beevor's sign, EM... ORPHA:437572
Cardiomyopathy, Dilated, 1X
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated ci... OMIM:611615
Myopathy, Myosin Storage, Autosomal Recessive
Proximal muscle weakness, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle musc... OMIM:255160
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Lumbar hyperlordosis, Type 1 fibers relatively smaller than type 2 fibers, Fac... OMIM:255310
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Respiratory insufficiency due to muscle weakness, Decreased activity of mitochon... OMIM:609560
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Generalized amyotrophy, Myopathy OMIM:618323
Neuropathy, Hereditary Motor, With Myopathic Features
Distal upper limb muscle weakness, Flexion contracture, Proximal muscle weakness in lower limbs, ... OMIM:619216
Myopathy, Myofibrillar, 6
Spinal rigidity, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myo... OMIM:612954
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... ORPHA:610
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Scoliosis, Fatty replacement of skeletal muscle, Proximal muscle weakn... OMIM:255100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Scoliosis, Centrally nucleated skeletal muscle fibers, Respiratory insufficie... OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating cr... OMIM:608807
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles... OMIM:158590
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Hypokalemia, Myopathy OMIM:613345
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia, Kyphoscoliosis, Distal amyotrophy, Tremor OMIM:619099
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Arthrogryposis-like hand anomaly, Distal muscle weakness, Diaphragmatic eve... OMIM:620011
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogr... OMIM:254210
Proximal Myopathy With Extrapyramidal Signs
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Proximal muscle ... ORPHA:401768
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Tongue tremor, Postural tremor, EMG: ... OMIM:618524
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Ophthalmoparesis, Muscle weakness, F... OMIM:615348
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration, Myopathy OMIM:607091
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Weakness of facial musculature, Increased serum pyruvate, Increased intramyocellular lipid drople... OMIM:619062
Myoclonus, Familial, 1
Frequent falls, Ataxia, Myoclonus OMIM:614937
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... ORPHA:597
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Decreased activity of mitochondrial respiratory chain, Myopathy OMIM:613076
Typical Nemaline Myopathy
Facial diplegia, Increased variability in muscle fiber diameter, Short neck, Neck flexor weakness... ORPHA:171436
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Distal amyotrophy, Muscle weakness, Mildly elevated creatine kinase, Skel... OMIM:614369
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Inguinal hernia, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, ... OMIM:619903
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Tip-toe gait, EMG: myop... ORPHA:370980
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Lumbar hyperlordosis, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, L... OMIM:613818
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Proximal... ORPHA:1145
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... OMIM:607641
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Chorea, Hyperlordosis, Difficulty walki... ORPHA:369840
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Muscular dystrophy, Elevated circulating creatine kinase concentration, Congenital m... OMIM:602541
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... ORPHA:596
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Malignant Hyperthermia, Susceptibility To, 2
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... OMIM:154275
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Myopathy, Myofibrillar, 8
Nemaline bodies, Gowers sign, Scapular winging, Elevated circulating creatine kinase concentratio... OMIM:617258
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... OMIM:614915
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Lumbar hyperlordosis, Myopathy OMIM:253320
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... OMIM:606070
De Barsy Syndrome
High palate, Progeroid facial appearance, Progressive cerebellar ataxia, Sparse hair, Excessive w... ORPHA:2962
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers, Decreased activity of mitochondrial complex I... OMIM:616794
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Elevated circulat... OMIM:616052
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... OMIM:619334
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Mi... ORPHA:178148
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... OMIM:619065
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements OMIM:611092
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Paramyotonia Congenita Of Von Eulenburg
Percussion myotonia, Paradoxical myotonia, Handgrip myotonia, Skeletal muscle hypertrophy OMIM:168300
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Distal muscle weakness, Elevated circulating creatine kinase concentration, Progressive external ... OMIM:617070
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Atrial septal defect, Bruising susceptibility, Reduced bone mineral density,... OMIM:619115
Brody Disease
Myotonia, Percussion myotonia, Flexion contracture, Skeletal muscle hypertrophy OMIM:601003
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor OMIM:618425
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Inability to walk, Type 1 muscle fiber predominance, Tetraparesis, Spa... OMIM:618276
Malignant Hyperthermia, Susceptibility To, 3
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... OMIM:154276
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Thoracic scoliosis, Inabili... ORPHA:206546
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... OMIM:301830
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic hypokalemia, Respiratory paralysis, Late-onset proxima... ORPHA:681
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Dpm3-Cdg
Elevated creatine kinase after exercise, Calf muscle hypertrophy, Muscular dystrophy, Pelvic gird... ORPHA:263494
Striatonigral Degeneration, Infantile, Mitochondrial
Motor tics, Babinski sign, Myoclonus, Ophthalmoparesis, Chorea, Frequent falls, Ragged-red muscle... OMIM:500003
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal muscle weakness, Difficulty walking, Paralysis, Muscle weakness, Skeletal muscle atrophy OMIM:613710
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Respiratory arrest, Difficulty walking, Sudden episodic apnea, Bulbar palsy, Episodic res... ORPHA:98914
Congenital Myasthenic Syndrome
Ataxia, Respiratory arrest, Difficulty walking, Sudden episodic apnea, Bulbar palsy, Episodic res... ORPHA:590
Dystonia 3, Torsion, X-Linked
Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea OMIM:314250
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Kyphosis, Diaphragmat... OMIM:181405
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Hypokalemia, Muscle weakness, Myopathy OMIM:170400
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Back pain, Reduced vital capacity, EMG: myopathic... ORPHA:329478
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Increased serum lactate, Increased serum pyruvate, Respiratory insufficiency, Hypercapnia,... OMIM:618222
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Hand clenching, Flexion contracture, Overlapping fingers, Scoliosi... OMIM:618291
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging OMIM:617232
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy ORPHA:366
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic ... OMIM:606612
Marinesco-Sjogren Syndrome
Kyphosis, Ataxia, Failure to thrive, Flexion contracture, Limb ataxia, Rimmed vacuoles, Scoliosis... OMIM:248800
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy, Myotonia OMIM:158800
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Myopathy, Proximal muscle weakness OMIM:551500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Poor head control, Bruising susceptibility, Hernia, Muscle weakness, Atrophic sca... ORPHA:300179
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Kyphosis, Respiratory insufficiency due to muscle weakness, S... OMIM:254090
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Reduced forced vital capacity, Reduced maximal inspiratory pressure, Ventilator depe... ORPHA:505395
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... OMIM:616470
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased ... OMIM:610717
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis, Myopathy ORPHA:91130
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Increased vari... ORPHA:98905
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Distal muscle weakness, Scoliosis, Sp... OMIM:600175
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Spinal rigidity, Flexion cont... OMIM:617114
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Scoliosis, Progressive external ophthalmoplegia, External... OMIM:201470
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Fingerprint Body Myopathy
Myopathy OMIM:305550
Cap Myopathy
Gowers sign, Abnormal muscle fiber morphology, Lumbar hyperlordosis, Thoracic scoliosis, Poor hea... ORPHA:171881
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... OMIM:616081
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Centrally nucleated skeletal muscle fibers, Internally nu... ORPHA:324581
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Cholesterol Pneumonia
Cyanosis, Pneumonia, Cough, Tachypnea OMIM:215030
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circ... OMIM:123320
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Broad-based gait, Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber dia... ORPHA:119
Myopathy, X-Linked, With Excessive Autophagy
Gowers sign, Flexion contracture, Proximal muscle weakness in lower limbs, Respiratory insufficie... OMIM:310440
Myopathy With Lactic Acidosis, Hereditary
Abnormal iron deposition in mitochondria, Elevated circulating creatine kinase concentration, Inc... OMIM:255125
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Elevated carcinoembryonic antigen level, Acute infectious pneumon... ORPHA:264675
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Kyphosis, Ataxia, Clumsiness, Bulbar palsy, Diaphragmatic weakness, Externa... OMIM:211530
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Pectus excavatum, Congenital fibrosis of extraocular muscles OMIM:609384
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Gordon Syndrome
Camptodactyly of finger, Pectus excavatum, Scoliosis, Decreased muscle mass ORPHA:376
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Scoliosis, Ophthalmoparesis, Arthrogryposis multiplex c... OMIM:608930
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, First dorsal interossei muscle weakness, Distal mu... OMIM:619574
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Talipes equinovarus, Left ventricular hypertrophy, Facial palsy... ORPHA:169186
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Acute rhabdomyolysis, Hyperkalemia, Muscle we... OMIM:268200
Neuropathy, Hereditary Thermosensitive
Fever OMIM:602107
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Spastic gait, Motor stereotypy, Secundum atrial septal defect, Dysmetria, Short ... OMIM:619121
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Flexion contracture, Cutis laxa, Thin vermilion border, Osteopenia, Excessive wrinkl... OMIM:614438
Boomerang Dysplasia
Narrow chest, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature... ORPHA:1263
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Parkinsonism with favorable response to dopam... ORPHA:254886
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Skeletal muscle hypertrophy, Gait disturbance, Muscle weakness, Umbilical hernia, J... ORPHA:2349
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Geniospasm 1
Chin myoclonus OMIM:190100
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Metabolic acidosis, Hypercapnia, Tachypnea, Hyperphospha... ORPHA:423
Oculopharyngodistal Myopathy
Weakness of facial musculature, Difficulty walking, Distal lower limb amyotrophy, Fatigable weakn... ORPHA:98897
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Elevated circulating cre... OMIM:619542
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, G... ORPHA:95434
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy ORPHA:50817
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Hand muscle weakness,... ORPHA:98915
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Limb musc... OMIM:600561
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Distal muscle weakness, Scoliosis, Foot dorsiflexor weaknes... OMIM:607684
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Craniosynostosis, Osteopenia, Platyspondyly, Microdonti... ORPHA:536467
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Weakness of facial m... ORPHA:352447
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Spastic gait, Slurred ... ORPHA:972
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Distal muscle weakness, Scoliosis, Gait disturbance, Tremor, Skeletal muscle at... ORPHA:101078
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Decreased cervical spine flexion due to contractures of posterior cervical muscles, ... ORPHA:254361
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis, Myopathy OMIM:618234
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... OMIM:606842
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Narrow mouth, Muscle fiber atrophy, Secundum atrial septal defect, Flexion contractu... OMIM:616866
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure OMIM:613869
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Small for gestational age, Centrally nucleated skeletal muscle fi... OMIM:615368
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ataxia, Myopathy, Postural tremor ORPHA:104
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Gowers sign, Limb-girdle muscle weakness, Progressive external ophthalmoplegia, Ga... OMIM:615156
Eng-Strom Syndrome
Camptodactyly of finger, Pectus excavatum, Scoliosis ORPHA:1937
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations OMIM:607317
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Triangular mouth, Sparse hair, Craniosynostosis, Coarse hair, Short neck, Ventricula... OMIM:617506
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Flexion contracture, Facial palsy, Skeletal muscle atrophy, Myopathy, Ophthalmoplegia OMIM:616313
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Increased serum lactate, Metabolic acidosis, Tachypnea, Ketoacidosis, Respiratory... OMIM:615751
Classic Multiminicore Myopathy
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Poor head control, Spinal r... ORPHA:324604
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Small for gestational age, Abno... ORPHA:70589
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Increased variability in muscle fiber diameter, Gait disturbance, Spasticity, Myopathy, O... OMIM:125250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Hand muscle ... ORPHA:435387
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Talipes equinovarus, Hand clenching, Scoliosis, Neonatal death, Respir... OMIM:611890
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Costello Syndrome
Narrow palate, Woolly hair, Macroglossia, Short stature, Pulmonic stenosis, Abnormality of the de... ORPHA:3071
Kearns-Sayre Syndrome
Ataxia, Hemiplegia/hemiparesis, Progressive intervertebral space narrowing, Progressive external ... ORPHA:480
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lumbar hyperlordosis, Muscular dystrophy, Lower limb muscle weakness, Lipodyst... OMIM:615980
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Difficulty walking, Spasticity, Myopathy OMIM:618242
Immunodeficiency 9
Failure to thrive, Gowers sign, Difficulty walking, Proximal muscle weakness, Myopathy, Amelogene... OMIM:612782
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Intrinsic hand muscle atrophy, Flexion contracture, Weakness of long finger extensor muscles, Cam... ORPHA:324442
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... OMIM:606183
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... OMIM:601462
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short ribs OMIM:618188
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Neuralgic Amyotrophy
Respiratory insufficiency, Scapular winging, Acrocyanosis, Muscle weakness ORPHA:2901
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline, Secundum atrial septal defect, Limb hypertonia, Ventricular sept... OMIM:619909
Genetic Recurrent Myoglobinuria
Hypocalcemia, Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of j... ORPHA:99845
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Gowers sign, Reduced vital capacity, Scapular winging, Type 1 muscle fiber predo... OMIM:617336
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Pectus excavatum, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Hyperlord... OMIM:611588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... OMIM:258450
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea, Hyperammonemia, Metabolic acidosis, Increased serum pyruvate, Increased serum... OMIM:615160
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Wide mouth, Hypertonia, Low anterior hairline, Secundum atrial septal defect, S... OMIM:615802
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle m... OMIM:607155
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi... OMIM:615883
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Polyhydramnios, Umbilical hernia, Omphalocele, Thoraci... ORPHA:254534
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Tip-toe gait, Babinski sign, Lower limb amyotrophy, Progressive spastic paraplegi... ORPHA:496689
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Flexion contracture, Scoliosis,... ORPHA:1143
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Decreased body weight, Arthrogryposis multiplex congenita OMIM:618265
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Cleft palate, Osteopenia, Scoliosis, Osteoporosis, Tetralogy of Fa... OMIM:612562
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Lipoatrophy, Scoliosis, Pectus carinatum, Shoulder girdle... ORPHA:64755
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Increased variability in muscle fiber diameter, Reduced forced vita... OMIM:164310
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:310300
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Ele... ORPHA:206569
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower... ORPHA:101075
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Flexion contracture, Spastic tetraplegia, Myopathy OMIM:618237
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Kyphosis, Hyperextensibility of the finger joints, Respiratory insufficiency, Pl... OMIM:313420
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Ataxia, Loss of ambulation, Distal muscle weakness, Scoliosis, Foot dorsiflexor weaknes... OMIM:618124
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Thin ribs, Abnormality of the diaphragm, T... ORPHA:171430
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal scapula morphology, Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)