Gene Summary

Name:
selenoprotein N
Synonyms:
Sepn1,  1110019I12Rik

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
vertebral fusion Selenontm1a(KOMP)Wtsi HOM Early adult 3.12×10-05

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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
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 Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
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 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 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 Not available
Skeletal muscle tissue 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 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 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.

Histopathology

Images

6 Images

Human diseases caused by Selenon 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 predicted to be associated to Selenon by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy OMIM:271220
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Miyoshi Myopathy
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... ORPHA:45448
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... ORPHA:219
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:600794
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy OMIM:615025
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Hyperlordosis, Flexion c... OMIM:160150
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Distal amy... OMIM:619042
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:614881
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... ORPHA:482601
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Polyglucosan Body Myopathy 2
Skeletal muscle atrophy, Limb-girdle muscle weakness OMIM:616199
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Small for gestational age, Arthrogryposis multiplex congenita, Ky... OMIM:618484
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Neuronopathy, Distal Hereditary Motor, Type Iic
Distal lower limb muscle weakness, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:613376
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy OMIM:608323
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Muscular Dystrophy, Hemizygous Lethal Type
Limb-girdle muscular dystrophy OMIM:309950
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Hyperlordosis, Increased variability in muscle fiber diameter, Flexion... OMIM:300718
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Autosomal Recessive Spastic Paraplegia Type 62
Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Salih Myopathy
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... OMIM:611705
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Autosomal Recessive Spastic Paraplegia Type 63
Decreased body weight, Skeletal muscle atrophy ORPHA:401805
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Bethlem Myopathy 2
Myopathy, Kyphosis, Increased variability in muscle fiber diameter, Flexion contracture, Scapular... OMIM:616471
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Spinal rigidity, Scoliosis OMIM:617066
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Spastic Paraplegia 38, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... OMIM:612335
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... OMIM:270685
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Rimmed vacuoles, Hyperlordosis, Calf muscle hypertrophy, Scoliosis OMIM:617760
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Spastic Paraplegia 62, Autosomal Recessive
Thoracic scoliosis, Skeletal muscle atrophy OMIM:615681
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Kyphosis, H... OMIM:255200
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy OMIM:616625
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Back pain, Hyperlordosis, Scapular winging, Muscle fiber splitting OMIM:618129
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis OMIM:611225
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Neuronopathy, Distal Hereditary Motor, Type I
Upper limb muscle weakness, Distal amyotrophy OMIM:182960
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Thoracolumbar scoliosis, Facial palsy, Spin... OMIM:255600
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, ... OMIM:607088
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy OMIM:615043
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Scoliosis OMIM:614750
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... OMIM:608099
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Rimmed vacuoles, Spinal rigidity, Flexion contracture, Scapular winging, Short neck OMIM:300696
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Spinal rigidity, Increased endomysial connective t... OMIM:617072
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... ORPHA:280333
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... ORPHA:437572
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Spondyloli... ORPHA:270
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Flexion contractu... OMIM:609285
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Scoliosis, Distal amyotrophy OMIM:608673
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... OMIM:614065
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Facial palsy, Distal amyotrophy, Lower limb muscle weakness, Hand muscle at... OMIM:607641
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Distal lower limb amyotrophy ORPHA:73245
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis ORPHA:488594
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Scoliosis OMIM:618244
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy OMIM:182980
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Kyphoscoliosis, Muscle fibe... OMIM:619542
Nemaline Myopathy 2
Slender build, Calf muscle pseudohypertrophy, Weakness of facial musculature, Arthrogryposis mult... OMIM:256030
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleat... OMIM:619518
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:399058
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Spinal Muscular Atrophy, Jokela Type
Spinal muscular atrophy, Skeletal muscle atrophy, Calf muscle hypertrophy OMIM:615048
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular winging, Myofibrillar myopathy, ... OMIM:300695
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture OMIM:611105
Neuronopathy, Distal Hereditary Motor, Type Vc
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscle atrophy OMIM:619112
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Generalized amyotrophy, Congenital muscular dystrophy, Spinal rigidity, Flexio... OMIM:613205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Kyphosis, P... OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... OMIM:612937
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Flexion contract... OMIM:248800
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Scoliosis, Kyphosis OMIM:617087
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... OMIM:158810
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:610250
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fibe... OMIM:616470
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy OMIM:158580
Myopathy, Distal, 1
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Scoliosis, Weak... OMIM:160500
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Hyperlordosis, Flexion contracture, Scapular winging, Scoliosis, Limb-g... OMIM:616228
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Neuronopathy, Distal Hereditary Motor, Type Iid
Triceps weakness, Weakness of the intrinsic hand muscles, Spinal muscular atrophy, Lower limb mus... OMIM:615575
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... ORPHA:139536
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal amyotrophy OMIM:614751
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Skeletal muscle atrophy, Scoliosis OMIM:618184
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... OMIM:604286
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... OMIM:619216
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy OMIM:302801
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Foot dorsiflexor weakness, Distal amyotrophy OMIM:607731
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... OMIM:617258
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... OMIM:616812
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Lower limb muscle weakness, Leg muscle stiffness ORPHA:100985
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Kyphoscoliosis, Intrinsic hand muscle atrophy, Centrally nucleated skeletal mus... OMIM:619574
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Joint contracture of the hand, Hyperlordosis, Distal amyotrophy, Spin... OMIM:611067
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Ankle flexion contracture, Knee flexion contracture, Distal amyotr... ORPHA:320370
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Nemaline Myopathy 1
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... OMIM:609284
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Increased variability in... OMIM:619065
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:616040
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Spinal rigidity, Hype... ORPHA:97244
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... OMIM:602771
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Foot dorsiflexor weakness, Skeletal muscle atrophy, Limb muscle weakness OMIM:613287
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Pontocerebellar Hypoplasia, Type 1C
Failure to thrive, Spinal muscular atrophy, Skeletal muscle atrophy, Flexion contracture OMIM:616081
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-gird... OMIM:613818
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis ORPHA:101075
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... OMIM:610099
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Foot dorsiflexor weakness, Shoulder girdle muscle atrophy OMIM:181400
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Foot dorsiflexor weakness, Scoliosis, Distal amyotrophy ORPHA:496756
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Skeletal muscle atrophy OMIM:256720
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... ORPHA:496689
Spinocerebellar Ataxia 43
Distal amyotrophy OMIM:617018
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy OMIM:619099
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Spinal muscular atrophy OMIM:271150
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Small for gestational age, Flexion contracture, Conge... OMIM:615368
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Nemaline bodies, Flexion contracture, Distal amyotrophy, Hypotrophy of the small ha... OMIM:607684
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy OMIM:615683
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Distal amyotrophy ORPHA:639
Autosomal Spastic Paraplegia Type 30
Distal amyotrophy, Leg muscle stiffness ORPHA:101010
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... ORPHA:352479
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Myopathy, Myofibrillar, 2
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... OMIM:608810
Epilepsy, Progressive Myoclonic, 9
Generalized amyotrophy, Scoliosis OMIM:616540
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... OMIM:253700
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... OMIM:167320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... OMIM:616052
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Upper limb amyotrophy, Lower limb muscle weakness ORPHA:99940
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Scoliosis, Kyphosis ORPHA:101078
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... ORPHA:34515
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy OMIM:182920
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Scoliosis, Congenital contracture OMIM:605637
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Spinal muscular atrophy OMIM:253300
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy OMIM:182815
Spastic Ataxia 9, Autosomal Recessive
Distal amyotrophy OMIM:618438
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Hyperlordosi... ORPHA:363454
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis, EMG: myopathic... ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities OMIM:608807
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, Achilles tendon contract... OMIM:181350
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Campt... OMIM:618393
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253400
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Scoliosis, Distal amyotrophy OMIM:601382
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy OMIM:607791
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy ORPHA:2589
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Hand muscle weakness, Distal upper limb amyotrophy, Dist... ORPHA:101077
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... ORPHA:169189
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Foot dorsiflexor weakness, Scoliosis, Distal amyotrophy OMIM:617207
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Congenital Myopathy With Myasthenic-Like Onset
Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathic abnormalities, M... ORPHA:424107
Pleoconial Myopathy With Salt Craving
Proximal amyotrophy, Myopathy OMIM:262900
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Quadriceps m... ORPHA:206546
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Achilles tendon contracture, Knee flexion contracture, Hyperlordosis, Scapular w... OMIM:615290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Spinocerebellar Ataxia Type 43
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy ORPHA:497764
Nemaline Myopathy 7
Nemaline bodies, Minicore myopathy, Myofibrillar myopathy OMIM:610687
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles ORPHA:263494
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Spinal muscular atrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:605726
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Myopathy, Myofibrillar, 6
Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion contracture, Mus... OMIM:612954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Muscular dystrophy, Scapular winging, Calf muscle hypertrophy OMIM:601287
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Scoliosis, Distal amyotrophy ORPHA:3454
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Scoliosis OMIM:618239
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Kyphoscoliosis, Upper limb muscle weakness, Distal amyotrophy OMIM:605588
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Skeletal muscle atrophy OMIM:613710
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Facial palsy, Scapular winging, Skeletal muscle atrophy OMIM:617069
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Respiratory insufficiency, Facial palsy, Reduced muscle fiber alpha ... ORPHA:370968
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis, Skeletal muscle atrophy, Calf muscle hypertrophy ORPHA:101081
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Scoliosis, Upper limb muscle weakness, Distal amyotrophy OMIM:302802
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Upper limb amyotrophy, Calf muscle hypoplasia, Distal lower limb am... ORPHA:90103
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Dis... OMIM:617519
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Kyphosis, Increased endomysial connective ... ORPHA:178148
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Skeletal muscle atrophy OMIM:618276
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Lumbar hyperlordosis, Inc... ORPHA:171881
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
Hereditary Motor And Sensory Neuropathy V
Foot dorsiflexor weakness, Distal amyotrophy, Limb muscle weakness OMIM:600361
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Abnormality of the foot musculature, Distal amyotrophy, Foot dorsiflexor we... ORPHA:100998
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Foot dorsiflexor weakness, Distal amyotrophy, Scoliosis, Limb muscle weakness OMIM:608340
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy OMIM:612998
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Scoliosis, Distal amyotro... ORPHA:3115
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limb muscle weakness, Fusion of midcervical facet joints, Cervical vertebral bodies with decrease... OMIM:606842
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy OMIM:617336
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Myopathy, Scoliosis, Kyphosis OMIM:618234
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Cachexia, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Flexion contracture ORPHA:157973
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Limb-gi... ORPHA:206559
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Scoliosis, Limb muscle weakness OMIM:614895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... OMIM:606612
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy ORPHA:247604
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... OMIM:618469
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Scoli... OMIM:618291
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Distal amyotrophy OMIM:618400
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content OMIM:611556
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Flexion contracture, ... OMIM:310440
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Hyperlordosis... OMIM:603034
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Foot dorsiflexor weakness, Distal amyotrophy, Limb muscle weakness OMIM:118210
Fried Syndrome
Skeletal muscle atrophy, Scoliosis ORPHA:85335
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... ORPHA:119
Autosomal Recessive Spastic Paraplegia Type 67
Generalized amyotrophy ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 74
Distal lower limb muscle weakness, Distal amyotrophy ORPHA:468661
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... ORPHA:98905
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb amyotrophy, Small thenar eminence, Distal lower limb muscle weakness, Upper lim... OMIM:609311
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Kyphoscoliosis, M... ORPHA:597
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Distal amyotrophy OMIM:605253
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Skeletal muscle hypertrophy, Scoliosis ORPHA:101082
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystrophy, Calf muscle hypertr... OMIM:616827
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Scoliosis ORPHA:1188
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Facial palsy, Distal amyotrophy OMIM:254300
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy, Scoliosis, Kyphosis ORPHA:2598
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... OMIM:616867
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Facial palsy, Slender build, Generalized amyotrophy, Limb-girdle muscle weakness OMIM:615156
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal amyotrophy OMIM:601098
Spastic Paraplegia 76, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis OMIM:616907
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture OMIM:612079
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hyperlordosis, Scoliosis ORPHA:262
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Mitochondrial Dna Depletion Syndrome 18
Weakness of facial musculature, Failure to thrive, Distal amyotrophy, Foot dorsiflexor weakness, ... OMIM:618811
Nemaline Myopathy 10
Facial palsy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616165
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Distal amyotrophy, Distal... ORPHA:399096
Siddiqi Syndrome
Lower limb amyotrophy, Flexion contracture OMIM:618635
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Kyphoscoliosis, Arthrogryposis multiplex congenita, Small for gestational age OMIM:212540
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Knee flexion contra... OMIM:616286
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture, Paraspinal muscle ... OMIM:602484
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... ORPHA:353327
Duchenne Muscular Dystrophy
Scoliosis, Skeletal muscle atrophy, Calf muscle hypertrophy, Flexion contracture ORPHA:98896
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Shoul... OMIM:158900
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Foot dorsiflexor weakness, Distal amyotrophy OMIM:606483
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Skeletal muscle atrophy OMIM:616684
Typical Nemaline Myopathy
Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Kyphosis, Short neck... ORPHA:171436
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy OMIM:610100
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Facial palsy OMIM:610542
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98855
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy OMIM:611895
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Arthrogryposis multiplex congenita, Distal amyotrophy OMIM:162370
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... OMIM:613686
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Spinal deformities, Flexion contracture, Distal amyotrophy OMIM:607706
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers ORPHA:663
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Facial palsy, Arthro... OMIM:608931
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diameter OMIM:619334
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... ORPHA:397744
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Foot dorsiflexor weakness, Kyphoscoliosis OMIM:616668
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Distal amyotrophy OMIM:607831
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... ORPHA:254361
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Skeletal muscle atrophy OMIM:618251
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... OMIM:619461
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Obesity, Kyphoscoliosis, Muscular dystrophy, Distal lower li... ORPHA:459033
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy ORPHA:1875
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Skeletal muscle hypertrophy, Kyphosis ORPHA:99014
Classic Multiminicore Myopathy
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Fa... ORPHA:324604
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Foot dorsiflexor weakness, Distal amyotrophy OMIM:606595
Charcot-Marie-Tooth Disease And Deafness
Foot dorsiflexor weakness, Distal amyotrophy, Limb muscle weakness OMIM:118300
Glycogen Storage Disease, Type Ixd
Skeletal muscle atrophy OMIM:300559
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps... ORPHA:98913
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... OMIM:301830
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexion contracture... OMIM:619026
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Nemaline Myopathy 3
Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m... OMIM:161800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscle fiber atrophy, Muscular dystrophy, Hyperlordosis, Limb-girdle muscular dystrophy ORPHA:369840
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Distal amyotrophy OMIM:180800
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy, Kyphoscoliosis ORPHA:300179
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Abnormality of the Achilles tendon ORPHA:431329
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Limb muscle weakness, Flexion contracture, Distal amyotrophy, Foot dorsiflexor weakness, Scoliosis OMIM:609260
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... ORPHA:254864
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb muscle weakness, Flexion contracture OMIM:312920
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Thoracic scoliosis, Distal upper limb amyotrophy, Joint contracture of the hand, Distal amyotrophy OMIM:258650
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... OMIM:178110
Bethlem Myopathy
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... ORPHA:610
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Charcot-Marie-Tooth Disease Type 2B1
Proximal amyotrophy, Toe extensor amyotrophy, Peroneal muscle atrophy, Proximal muscle weakness i... ORPHA:98856
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Spinal deformities, Generalized amyotrophy, Facial palsy, Kyphosis, Spinal r... OMIM:615084
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy, Small for gestational age OMIM:618910
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta, Skeletal muscle atrophy ORPHA:2840
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98853
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain OMIM:122600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Myositis, Facial palsy, Muscular dystrophy, Flexion contracture, Scapular wi... OMIM:253600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Foot dorsiflexor weakness, Distal amyotrophy, Kyphoscoliosis, Limb muscle weakness OMIM:118220
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy, Myositis ORPHA:565899
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed... ORPHA:52430
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy ORPHA:100988
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Spinal muscular atrophy, Facial palsy, Scoliosis OMIM:159950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy OMIM:607734
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Scoliosis OMIM:608930
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot dorsiflexor weakness, Distal amyotrophy OMIM:600882
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:2926