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Gene: Stac3 MGI:3606571

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SH3 and cysteine rich domain 3
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Stac3 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 Stac3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Native American Myopathy
Progressive congenital scoliosis, Bifid uvula, Skeletal muscle atrophy, Congenital contracture, D... ORPHA:168572
Congenital Myopathy 13
Skeletal muscle atrophy, Downturned corners of mouth, Weakness of facial musculature, Kyphoscolio... OMIM:255995

The table below shows human diseases predicted to be associated to Stac3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Generalized weakness of limb muscles, Lumbar hyperlordosis, Abnormal peripheral nervou... ORPHA:353327
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Babinski s... OMIM:611225
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Tremor... ORPHA:309169
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Dental malocclusion... OMIM:617258
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Resti... ORPHA:401768
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Proximal muscle weakness in upper limbs, Decreased motor nerve conduction velocity, I... OMIM:620068
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... OMIM:500002
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Kyphosis, Talipes equinovarus, Hyperlordosis, Scapula... OMIM:255200
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:158590
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... OMIM:300717
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi... OMIM:255160
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ... OMIM:619574
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dis... OMIM:605285
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Short neck, Torticollis, Hip dislocation, Spinal ... ORPHA:75840
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Lumbar hyperlordosis, Typ... OMIM:255310
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Lumbar hyper... OMIM:619542
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Death in infancy, Neonatal death, Distal arthrogryposis, Voca... OMIM:616287
X-Linked Centronuclear Myopathy
Pneumonia, Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fib... ORPHA:596
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Ankle flexion contracture, Abnormal anterior horn cell morphology, Interph... ORPHA:1145
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Increased variability in muscle fiber diameter, Camptodactyly of finger, A... OMIM:614399
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb mus... OMIM:620351
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Bifid uvula, Facial diplegia, Type 1 muscle fiber pre... ORPHA:169186
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... OMIM:619565
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder gir... ORPHA:98913
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Fasciculations, Hi... OMIM:615290
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Axial muscle atrophy, Bilateral facial palsy... ORPHA:254361
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Kyphosis, Myopathy, Elevated circulating creatine... OMIM:616471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnorma... ORPHA:3268
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g... OMIM:167320
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Increased endomysial con... OMIM:620542
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Fatigable weakness, Myopathy, Type 1 muscle fiber pr... OMIM:603034
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Talipes equinovarus, Paralysis, Skeletal muscle atrophy OMIM:613710
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Talipes equinovarus, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Nemaline Myopathy 2
Hand clenching, Increased variability in muscle fiber diameter, Limb muscle weakness, Narrow mout... OMIM:256030
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis,... OMIM:160500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Scoliosis, Neuropathic spinal arthropathy, Fatigable weakness o... ORPHA:370968
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture, Paralysis, Distal arthrogryposis OMIM:616286
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Increased i... ORPHA:681
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Quadriceps muscle weakness, Hand tremor, Hand muscle weakness, Postural tremor, Di... ORPHA:99947
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Limb muscle weakness, Weakness of facial musculature, Type 2 muscle fiber atrophy, Dec... OMIM:608930
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Proximal muscle weakness in lower limbs, Centrally nucleated skeletal muscle fibers, P... ORPHA:169189
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Kyphosis, Foot dorsiflexor weakness, Talipes equinovarus, Optic disc pallor, Scoli... OMIM:617087
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Abnormal motor nerve conduction velocity, Tremor, Vocal co... OMIM:158580
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Quadriceps muscle weakness,... ORPHA:99948
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, 11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Camptodact... OMIM:618393
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Ulnar claw, Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness... OMIM:607706
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal death, Dea... OMIM:300219
Lethal Congenital Contracture Syndrome 5
Thin ribs, Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve co... OMIM:615368
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Athetosis, Ragged-red muscle fibers OMIM:615159
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Dystonia, Abnormal posturing, Tremor OMIM:304700
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Genu valgum, Myopathy, Short neck, High palate, G... ORPHA:171436
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Split hand... OMIM:610099
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Ragged-red muscle fibers, ... OMIM:300816
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakness, Type 1 muscle fi... OMIM:609285
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Narrow chest, Arthrogryposis mul... ORPHA:171439
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Roussy-Lévy Syndrome
Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Lower limb... ORPHA:3115
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Facia... OMIM:611890
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... OMIM:603511
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Distal lower limb amyotrophy, T... ORPHA:101075
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... OMIM:601462
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid droplets OMIM:619065
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Pectus carinatum, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower lim... OMIM:620389
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Tongue atrophy, Spasticity, Skeletal muscle atrophy, Upper l... ORPHA:803
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Kyphosis, Clinodactyly,... OMIM:181405
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical vertebrae, C... ORPHA:2635
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:605809
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Pectus carinatum, Narrow mouth, Facial myokymia, Ataxia, Hip dysplasia, Ky... OMIM:620007
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Torus palatinus, Clavicular scle... ORPHA:2790
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, Knee flexion contracture... ORPHA:496689
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Extremely elevated creatine kinase, Mildly elevated crea... ORPHA:171445
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... OMIM:254210
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Bell-shaped thorax, Shor... ORPHA:178148
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Death in childhood, Death in infancy, Neonatal death OMIM:614096
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat... OMIM:616165
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Decreased compound muscle action potential amplitude, Myopathy, Flexion contract... OMIM:618323
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... OMIM:616052
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... OMIM:619903
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Tetraparesis, Short neck, Anterior rib cupping, At... OMIM:300232
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy ORPHA:263494
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Oculopharyngodistal Myopathy
High, narrow palate, Vocal cord paresis, Proximal muscle weakness in upper limbs, Difficulty in t... ORPHA:98897
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Abnormal circulating creatine kinase concentration,... OMIM:617519
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Decreased nerve conduction velocity, Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Lumbar hyperlordosis,... ORPHA:171881
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphosis, Mi... OMIM:254090
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine este... ORPHA:98915
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy, Lower limb muscle weakness, Angulated muscle fibers, Quadr... OMIM:620285
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Spasticity, Proximal muscle weakness in lower lim... OMIM:613954
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Cyanosis, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Cho... ORPHA:71277
Myopathy, Myofibrillar, 7
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle f... OMIM:617114
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:101097
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros... OMIM:609052
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Scoliosis, Arthrogryposis multiplex congenita, Limb muscle weakness, Type 1 musc... OMIM:161800
Central Core Disease
Congenital hip dislocation, Nemaline bodies, Abnormal circulating creatine kinase concentration, ... ORPHA:597
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss... OMIM:500009
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Fatigable weakness, Myopathy, Multiple joint... ORPHA:424107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Scoliosis, Skeletal muscle atrophy, Kyphosis,... OMIM:606612
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Diaphragmatic paralysis, Abnormal lung morphology, Pulmonary... ORPHA:70589
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Multiple joint contractures, Tremor, Tor... OMIM:128100
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Striatonigral Degeneration, Infantile, Mitochondrial
Paroxysmal choreoathetosis, Ragged-red muscle fibers, Lingual dystonia OMIM:500003
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Proximal amyotrophy, Lower limb spasticity, H... OMIM:617404
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Decreased nerve conduction velocity, Facia... ORPHA:329478
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature, Dystonia, Choreoathetosis OMIM:618416
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Proximal spinal ... ORPHA:1320
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Spastic Paraplegia Type 7
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, ... ORPHA:99013
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrop... OMIM:607459
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Congenital diaphragmatic ... ORPHA:958
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Recurrent pneumonia, Rimmed va... OMIM:620249
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor... ORPHA:239
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis OMIM:618453
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Bifid uvula, Aplasia of the distal phalanx of the 5th toe, Kyphos... OMIM:618658
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Arachnodactyly, Radioulna... ORPHA:536467
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:606071
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col... ORPHA:52430
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones, Bea... ORPHA:40
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Waardenburg Syndrome Type 3
Spastic paraplegia, Synostosis of carpal bones, Atelectasis, Camptodactyly of finger, Cutaneous f... ORPHA:896
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Spastic tetraplegia, Myopathy, Neonatal death, Flexion contracture, Kyphosis OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of ... OMIM:613818
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Ataxia, Scoliosis, Kyphos... ORPHA:99014
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Death in childhood, EMG: myopath... OMIM:609560
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Diastrophic Dysplasia
Ulnar deviation of finger, Scoliosis, Abnormal epiphysis morphology, Micromelia, Hypoplastic cerv... ORPHA:628
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal lung lobation, A... ORPHA:1120
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Skeletal muscle atrophy, Abnormal rib morphology, Abnormal hip bone morphology,... ORPHA:3068
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Vocal cord paralysis, Hand muscle weakness OMIM:162500
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short thorax, ... ORPHA:2311
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphyses, Squared-... OMIM:271530
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Talipes equ... OMIM:620011
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Recur... OMIM:613327
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, High palate, Periodic paralysis, Fatigable weakness OMIM:614198
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Hand muscle weakness, Muscle fiber atrophy, Cogwheel rigidity, Action tremor, Myop... ORPHA:254886
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Finger joint contracture, Chorea, Abnormality of peripheral nerve conduction, Dysmetria... ORPHA:48431
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Tremor, Fat... ORPHA:397744
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Craniofrontonasal Dysplasia
Abnormality of the dentition, Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Campto... ORPHA:1520
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Decreased motor nerve conduction velocity, Gait at... OMIM:180800
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Rectus femoris muscle atrophy, High palate, Muscu... ORPHA:98905
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Talipes equinovarus, Scapular winging, Facial ... OMIM:617336
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle... OMIM:614895
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Oculomotor apraxia, Clinodactyly of the 5th finger, Scoliosis, Conge... ORPHA:3454
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Myoclonus, Flared iliac wing, Ata... OMIM:230650
Snakebite Envenomation
Gingival bleeding, Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Paralysis, Hypo... ORPHA:449285
Bethlem Muscular Dystrophy
Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl... ORPHA:610
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Pectus carinatum, Micromelia, Abnormal tibia morphology, Supernum... ORPHA:64755
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Skeletal muscle atrophy, Contractures of the large... OMIM:616716
Myopathy, Myofibrillar, 6
Spinal rigidity, Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flex... OMIM:612954
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Atelectasis, Absent muscle fiber merosin, Muscle fiber atrophy,... ORPHA:258
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Rhizomelia, Recurrent pneumonia, Narrow chest, Thoracic hypoplasia,... OMIM:602271
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Chorea, Abnormal circulating creatine kinase ... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy, Skeletal muscle atrophy, Knee clonus, Death in childhood, ... OMIM:211530
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Abnormal hip bone morphology, Abnormal lower lip morphology, Congenital diaphragm... ORPHA:1166
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Parkinsonism, Bradykinesia,... OMIM:258450
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Periodic hypokalemic paresis, High palate, Short foot, Short metacarp... OMIM:170390
Wieacker-Wolff Syndrome
Spasticity, Talipes equinovarus, Short neck, High palate, U-Shaped upper lip vermilion, Hip dislo... OMIM:314580
Spinocerebellar Ataxia 28
Dystonia, Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Hand tremor, Lower limb muscle weakness, Head tremor, Limb dysmetria, Limb mu... OMIM:614409
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:611588
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Short foot, Short toe, Hamartoma o... OMIM:269860
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Talipes eq... OMIM:151800
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Pectus excavatum, Kyphosis, Thin upper lip vermilion OMIM:609384
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Death i... ORPHA:682
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Kyphomelic Dysplasia
Narrow chest, Micromelia, Abnormal form of the vertebral bodies, Short thorax, Undulate ribs, Mis... ORPHA:1801
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus carinatum, Anodontia, Oligodontia, Everted lower lip vermilion, Large hands, Pectus excava... ORPHA:276630
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Slender long bone, Abnormal form of the vertebral bodies, Abnormal hip b... ORPHA:1486
Sprengel Deformity
Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi... OMIM:184400
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Firm muscles, Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell... OMIM:255710
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Facial diplegia, Diaphyseal sclerosis, Death in adolescence, Papilledema, Thickene... OMIM:122860
Combined Oxidative Phosphorylation Defect Type 27
Upper limb postural tremor, Ragged-red muscle fibers ORPHA:477774
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Increased vertebral heigh... ORPHA:2616
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Short finger, Hyperextensibility of the finger joints, Knee flex... OMIM:313420
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand... OMIM:609616
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow chest, Narrow palate, Long philtrum, Broad... OMIM:617022
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... OMIM:228520
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Spasticity, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, B... OMIM:252011
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Elevated circulating c... OMIM:615084
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Arthrogryposis, Distal, Type 5
Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Distal arthrogryposis, Hyperto... OMIM:108145
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Ectopic anus, Abnormal rib morphology, High pa... ORPHA:1703
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl... ORPHA:300605
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Tremor OMIM:619028
Xp22.13P22.2 Duplication Syndrome
Small hand, Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia, 2-3 to... ORPHA:284180
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Dental malocclusion, Decreased muscle mass, Fatigable weakness, Type 2 m... OMIM:608931
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, Short... OMIM:118100
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Bowing of the long bon... OMIM:255800
Classic Multiminicore Myopathy
Spinal rigidity, Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multip... ORPHA:324604
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Foot dorsiflexor weakness, Split hand, Ataxia, Scoliosis, Kyphosis OMIM:618124
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Huntington Disease-Like 1
Involuntary movements, Abnormal posturing, Abnormal shoulder morphology, Incoordination, Chorea, ... ORPHA:157941
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphra... ORPHA:1488
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Kyphosis ORPHA:2598
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Death in adolescence, Short long b... OMIM:619751
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Severe Congenital Nemaline Myopathy
Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,... ORPHA:171430
Dysosteosclerosis
Natal tooth, Increased intervertebral space, Diaphyseal undertubulation, High palate, Irregular v... OMIM:224300
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Craniodiaphyseal Dysplasia
Optic atrophy, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Farber Disease
Recurrent upper respiratory tract infections, Spasticity, Skeletal muscle atrophy, Short toe, Ate... ORPHA:333
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Distal amyotrophy, Ankle clonus, Babinski sign, Exaggerated st... OMIM:609541
Renpenning Syndrome
High, narrow palate, Skeletal muscle atrophy, Macrodontia, Narrow mouth, Abnormal thumb morpholog... ORPHA:3242
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Oxygen desaturation on... OMIM:610978
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Sandal gap, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Wide mouth, Narrow mouth, Deep philtrum, Hypertonia, Thick vermilion border, Clin... OMIM:615834
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia, Periodic paralysis, Myopathy OMIM:170400
Sialidosis Type 2
Pectus carinatum, Skeletal muscle atrophy, Short thorax, Tremor, Ataxia, Flexion contracture, Kyp... ORPHA:87876
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Broad metacarpals, Kyp... OMIM:277950
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micro... ORPHA:93351
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Death in early adulthood, Orofacial cleft, Femoral retroversion... ORPHA:79107
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Alpha-Mannosidosis
Narrow palate, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrowth, Bowing o... ORPHA:61
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Abnormal thorax morphology, Neonatal deat... OMIM:253310
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Radial deviation of the hand, Kyphosis, Narrow chest, Downturned corners of mouth, Lo... OMIM:301041
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Autosomal Recessive Spastic Paraplegia Type 53
Pectus carinatum, Clonus, Kyphosis, Upper limb hypertonia ORPHA:319199
Muscular Dystrophy, Congenital, Lmna-Related
Spinal rigidity, Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber ... OMIM:613205
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Intrauterine growth retardation, Type 1 muscle fiber predominance, Lim... ORPHA:319514
Coffin-Lowry Syndrome
Death in early adulthood, Open mouth, Everted lower lip vermilion, Large hands, High palate, Shor... ORPHA:192
Cutis Laxa-Marfanoid Syndrome
Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Flexion contracture, Hip dislocation ORPHA:171719
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Scoliosis, Shoulder girdle muscle weakness, Elevated circulating creatine kin... OMIM:607155
Japanese Encephalitis
Pulmonary edema, Talipes equinovarus, Opisthotonus, Paucity of anterior horn motor neurons, Chore... ORPHA:79139
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276244
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma... ORPHA:392
Van Den Bosch Syndrome
Scapular winging, Recurrent respiratory infections, Unfavorable response of muscle weakness to ac... ORPHA:3417
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Overlapping toe, Cutaneous finger syndactyly, Talipes equinovarus, Short n... OMIM:114300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hand clenching, Skeletal muscle atrophy, Kyphosis, Overlapping finger... OMIM:618291
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Micromelia, Irregular epiphyses, Thoraci... OMIM:608728
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Hypomimic face, Dystonia, Titubation ORPHA:225147
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Scoliosis, Hypoplasia of the odontoid process, Clinodactyly, Gen... OMIM:184250
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Pectus carinatum, Abnormality of the dentition, Arachnodactyly, Aplasia/Hypoplasia of the lungs, ... ORPHA:1548
Congenital Myasthenic Syndrome
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:98914
Rabies
Vocal cord paresis, Cerebral palsy, Recurrent pharyngitis ORPHA:770
Poliomyelitis
Myelitis, Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Lower limb spasticity, Ataxia, Scoliosis, Hi... OMIM:616756
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Talipes equinovarus, Kyphosis, Recurrent respiratory infect... ORPHA:85288
Masa Syndrome
Spastic paraplegia, Paraplegia, Talipes equinovarus, Lower limb spasticity, Adducted thumb, Hyper... OMIM:303350
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Pectus carinatum, Upper limb hypertonia, Clonus, Kyphosis, Lower limb hypertonia OMIM:614898
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Distal lower limb muscle weakness, Clonus, ... OMIM:620080
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Ataxia, B... OMIM:253010
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Short neck, High... OMIM:620369
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Thick vermilion border, Elevated circu... OMIM:300280
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Crisponi Syndrome
Long philtrum, Camptodactyly of finger, Narrow mouth, Death in infancy, Hypertonia, High palate, ... ORPHA:1545
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ... ORPHA:2215
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Abnormal metacarpal morphology, Hypo... ORPHA:1452
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ... ORPHA:99956
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn... OMIM:305620
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Joint contracture of the hand, Congenital contracture, Cerebral palsy, Narrow mouth, ... ORPHA:352490
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Gingival overgrowt... ORPHA:1834
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormality of the dentition, Carious teeth, Abnormal epiphysis ... ORPHA:582
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Emphysema, Hip dislocation OMIM:614100
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Sandal gap, Thick lower lip vermilion, Distal lower limb amyotrophy, Gait ataxia, Tre... OMIM:300354
Sialidosis Type 1
Pectus carinatum, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short thorax, T... ORPHA:812
C1Q Deficiency 2
Atelectasis, Oral ulcer, Elevated circulating C-reactive protein concentration, Recurrent lower r... OMIM:620321
Variegate Porphyria
Paralysis OMIM:176200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Kyphosis, Talipes equinovarus, Short foot, Scoliosis, Hip dislocation OMIM:300434
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion,... ORPHA:94065
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Myopathy, Weakness of ... ORPHA:352447
Hurler Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Spastic paraparesis, Abnormal ... ORPHA:93473
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Increased variability in muscle fiber diameter, Decreased motor nerve conduct... OMIM:619026
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Three M Syndrome 2
Thin ribs, Short 5th finger, Pectus carinatum, Dental malocclusion, Slender long bone, Clinodacty... OMIM:612921
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Broad phala... OMIM:271665
Machado-Joseph Disease Type 1
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276241
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P... ORPHA:43
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Lower limb undergrowth, Upper limb unde... OMIM:613630
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal hip bone morphology, Short nec... ORPHA:2522
Multiple Pterygium Syndrome, Escobar Variant
Narrow mouth, Patellar aplasia, Congenital diaphragmatic hernia, Arachnodactyly, Talipes equinova... OMIM:265000
Tonne-Kalscheuer Syndrome
Spasticity, Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced... OMIM:300978
Richieri Costa-Da Silva Syndrome
Pectus carinatum, Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter o... ORPHA:3101
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Tremor, Arachnodactyly, Thin upper lip vermilion, Smooth philtru... ORPHA:370079
Prune Belly Syndrome
Congenital hip dislocation, Volvulus, Intestinal malrotation, Aplasia of the abdominal wall muscu... ORPHA:2970
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Knee flexion contracture, Talip... OMIM:615490
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Cdkl5-Deficiency Disorder
Broad proximal phalanges of the hand, Hallux valgus, Deep philtrum, Everted lower lip vermilion, ... ORPHA:505652
Acrocallosal Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Triphalangeal thumb, Postaxial han... ORPHA:36
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Elevated circulating ... ORPHA:206569
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia... ORPHA:2911
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy OMIM:602541
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy