Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
laminin, alpha 2
Synonyms:
merosin,  mer

IMPC Data Collections

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

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.

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 Lama2 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 Lama2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in l... OMIM:618138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Decreased body weight, Inability to walk, Macroglossia, Flexion contracture... ORPHA:258

The table below shows human diseases predicted to be associated to Lama2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Gowers sign, Thoracic scoliosis, Tip-toe gait, Muscular dystrophy, Calf muscle pseudohypertrophy,... ORPHA:62
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Lumbar hyperlordosis, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, L... OMIM:613818
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Distal Anoctaminopathy
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... ORPHA:399096
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia, Muscle weakness OMIM:253590
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Gowers sign, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Proximal muscle weakn... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... ORPHA:267
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Spinal rigidity, Flexion contracture, Muscular dystrophy,... OMIM:617072
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Scoliosis, Ataxia OMIM:176250
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... ORPHA:603
Tibial Muscular Dystrophy
Clumsiness, Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myop... ORPHA:609
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Beevor's sign, Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness... OMIM:158901
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Muscular dystrophy, Limb-girdle muscl... OMIM:609308
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy, Muscle weakness OMIM:254100
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Miyoshi Muscular Dystrophy 1
Tip-toe gait, Distal muscle weakness, Muscular dystrophy, Lower limb muscle weakness, Distal amyo... OMIM:254130
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... OMIM:616199
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Clumsiness, Joint contracture of ... ORPHA:399086
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Progressive proximal muscle weakness, Limb-girdle muscle weakness,... ORPHA:98912
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Gowers sign, Calf muscle hypertrophy, Muscular dystrophy, Difficulty walking, Proximal muscle wea... OMIM:601287
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... ORPHA:399103
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
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
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Distal sensory impairment, Difficulty walking, Pr... OMIM:617087
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Vacuolar Neuromyopathy
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... OMIM:601846
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Myopathy, Distal, 3
Clumsiness, Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic ab... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Distal upper limb muscle weakness, Spinal rigidity, Skeletal muscle hypertrop... OMIM:619566
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Loss of ambulation, Increased endomysial connective tissue, Decreased body wei... OMIM:602771
Desminopathy
Loss of ambulation, Spinal rigidity, Weakness of facial musculature, Thoracic kyphoscoliosis, Nec... ORPHA:98909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Clumsiness, Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscl... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weaknes... OMIM:608807
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Muscular Dystrophy, Congenital, 1B
Gowers sign, Generalized muscle hypertrophy, Pectoralis amyotrophy, Spinal rigidity, Diaphragmati... OMIM:604801
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Scoliosis, Gait disturbance, Elbow flexion contracture, Muscle weakness OMIM:616516
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Flexion con... OMIM:613205
Episodic Ataxia, Type 7
Muscle weakness, Episodic ataxia OMIM:611907
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Genu recurvatum, Weakness of facial muscul... OMIM:610687
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... ORPHA:178464
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Multiminicore Myopathy
Failure to thrive, Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morpho... ORPHA:598
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... ORPHA:98911
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hypertrophy, L... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Loss of ambulation, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic... OMIM:603511
Duchenne Muscular Dystrophy
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Progressive muscle weakness, Waddling ga... ORPHA:98896
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Lower limb muscle weakness, Demyelinating sensory neuropathy, Pro... ORPHA:208981
Miyoshi Muscular Dystrophy 3
Distal muscle weakness, Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy OMIM:613319
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Muscle weakness, Pro... OMIM:613530
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Inability to walk, Reduced vital capacity, Limited knee f... ORPHA:266
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:612998
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... OMIM:613204
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis, Distal amyotrophy OMIM:158580
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Reduced vital capacity, Flexion contracture, Ty... OMIM:609285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... OMIM:609452
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... OMIM:500002
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Lower limb muscle weakness, Spastic paraplegia, Gait disturba... OMIM:611225
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... OMIM:605355
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Progressive pr... OMIM:167320
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Increased variability in muscle fi... OMIM:619042
Acid Phosphatase Deficiency
Generalized hypotonia, Opisthotonus, Hypotonia OMIM:200950
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Fasc... ORPHA:641
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles... OMIM:158590
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... ORPHA:610
Marinesco-Sjogren Syndrome
Failure to thrive, Kyphosis, Ataxia, Flexion contracture, Limb ataxia, Rimmed vacuoles, Scoliosis... OMIM:248800
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Muscle weakness, Waddling gait, F... OMIM:602541
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Progressive proximal muscle weakn... ORPHA:2596
Myopathy, Centronuclear, 2
Kyphosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG... OMIM:255200
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging OMIM:310095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Loss of ambulation, F... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Muscle weakness, Gowers sign OMIM:616094
Nemaline Myopathy 2
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:256030
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Limitation of movement at ankles, Scapular winging, Incre... ORPHA:437572
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Kyphoscoliosis, Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory ... ORPHA:459033
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis, Gait disturbance, Abdominal wall muscle weakness, Muscle fiber splittin... OMIM:618129
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Lumbar hyperlordosis, Type 1 fibers relatively smaller than type 2 fibers, Fac... OMIM:255310
Myopathy, Myofibrillar, 6
Spinal rigidity, EMG: myopathic abnormalities, Muscular dystrophy, Scoliosis, Myofibrillar myopat... OMIM:612954
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Spinal rigidity, Muscular dystrophy, Scoliosis, Neck muscle weakness, Centrally nucleated skeleta... OMIM:617066
Autosomal Recessive Spastic Paraplegia Type 76
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Scoliosis, Lower limb muscle weakness, Gait ata... ORPHA:488594
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Myopathy OMIM:545000
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Merrf
Ragged-red muscle fibers, Ataxia, Myopathy, Short stature ORPHA:551
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction, Lower limb muscle weakness ORPHA:306617
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... ORPHA:401768
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... ORPHA:1878
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Distal muscle weakness, Scoliosis, Hyperlordosis, Waddl... OMIM:617760
Oculopharyngodistal Myopathy
Weakness of facial musculature, Difficulty walking, Distal lower limb amyotrophy, Fatigable weakn... ORPHA:98897
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Distal sensory impairment, Foot dorsiflexor weakness, Spinal muscular atrophy, Gait disturbance, ... OMIM:614881
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Gowers sign, Lumbar hyperlordosis, Calf muscle hypertrop... ORPHA:280333
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Loss of ambulation, Skeletal muscle autophagosome accumulation, Rimmed vacuole... OMIM:619518
Myositis
Myositis, Proximal muscle weakness OMIM:160750
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babi... ORPHA:263494
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... OMIM:601098
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Flexion contracture, Cachexia, Respiratory insufficiency, Joint hyperflexibility... ORPHA:157973
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Tip-toe gait, EMG: myop... ORPHA:370980
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Onion bulb formation, Distal amyotrophy, Spastic paraplegia, Demy... OMIM:182815
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Opisthotonus, Parkinsonism, Apraxia, Choreoathetosis, Spasticity, Distal upper limb amyotrophy, S... OMIM:619653
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Generalized muscle weakness OMIM:613152
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal ... OMIM:182980
Episodic Ataxia, Type 8
Ataxia, Intention tremor, Muscle weakness, Slurred speech, Episodic ataxia OMIM:616055
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Muscle ... OMIM:616471
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Loss of ambulation, Abnormality o... ORPHA:399081
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis, Ataxia, Distal amyotrophy, Tremor OMIM:619099
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Lumbar hyperlordosis, Proximal muscle weakness, Tip-toe gait, To... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Immunodeficiency 40
Lymphopenia OMIM:616433
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Foot dorsiflexor weakness, Vestibular schwannoma, Decreased compound muscle action potential ampl... OMIM:613641
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Proximal muscle weakness, Back pain, Spinal rigidity, Skeletal muscle hyp... OMIM:300696
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Sensorineural hearing impairment, Distal muscle weakness, Decreased motor nerve conduction veloci... OMIM:613287
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Chorea, Hyperlordosis, Difficulty walki... ORPHA:369840
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Foot dorsiflexor weakness... OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, First dorsal interossei muscle weakness, Distal mu... OMIM:619574
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle weakness, Distal muscle weakness, First dorsal interossei muscle a... OMIM:601472
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Pleoconial Myopathy With Salt Craving
Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Amyotrophic Lateral Sclerosis 2, Juvenile
Ataxia, Babinski sign, Hand muscle atrophy, Spasticity of facial muscles, Spasticity, Distal lowe... OMIM:205100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Wa... OMIM:612937
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Distal muscle weakness, Scoliosis, Gait disturbance, Tremor, Impaired pain sens... ORPHA:101078
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Scoliosis, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... ORPHA:13
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, Spinal rigidity, EMG: myopathic abnormalities, Mi... ORPHA:486815
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Progressive external ophthalmoplegia, Ragged-red muscle fibers, ... OMIM:613662
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Charcot-Marie-Tooth Disease, Type 4B1
Distal muscle weakness, Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular ... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Flexion contr... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Scoliosis, Muscle fiber inclusion bodies, Waddling gait, Proximal muscle ... OMIM:605637
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Proximal muscle weakness, Skeletal muscle hypertrophy OMIM:613158
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic ... OMIM:606612
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... OMIM:616924
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... OMIM:607641
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Upper limb muscle weakness, Axonal degeneration... OMIM:607791
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles of the big toe OMIM:608634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Ataxia, Inability to walk, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Muscle we... OMIM:615350
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Distal joint laxity, Slender build, Muscle fiber ... OMIM:254090
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Foot dorsifle... OMIM:608340
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Distal sensory i... OMIM:616040
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Distal muscle weakness, Abnormal pyramidal sign, Fasciculations, Distal amyot... OMIM:608627
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Rigidity, Flexion contracture OMIM:613869
Fingerprint Body Myopathy
Myopathy OMIM:305550
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... ORPHA:97240
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Scoliosis, Fatigable weakness, Hyp... OMIM:616228
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Foot dorsifl... OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Proximal muscle weakness in lower limbs, Onion bulb formation, Decreased mot... OMIM:607706
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Gowers sign, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Hyperlordosis OMIM:611588
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Kyphoscoliosis, Limb ataxia, Scoliosis, Lower limb muscle weakness... ORPHA:3115
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peroneal muscle weakness, Hand muscle weakness, Intrinsic hand muscle atrophy, Chronic axonal neu... ORPHA:101097
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Distal upper limb muscle weakness, Impaired vibratory sensation, Proximal muscle weakness in lowe... OMIM:618912
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Axonal degene... OMIM:607677
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Spinal muscular atrophy, Tremor, Difficulty walking, Fasciculations, Ske... OMIM:615048
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Loss of ambulation, Muscular dystrophy, Increased variability in muscle fi... OMIM:616812
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Gowers sign, Left ventricular hypertrophy, Facial palsy, Scapul... ORPHA:169186
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Gait disturbance, Cubitus valgus, Joint hyperflexibility ORPHA:1875
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Skeletal muscle atrophy, Opisthotonus, Axial hypotonia OMIM:616896
Myopathy, Myosin Storage, Autosomal Recessive
Proximal muscle weakness, Thoracic scoliosis, Loss of ambulation, EMG: myopathic abnormalities, C... OMIM:255160
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Limb... ORPHA:497764
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, Respiratory insufficiency due to muscle weakness,... ORPHA:424107
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... OMIM:607731
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Ataxia, Failure to thrive, Delayed myelination, Flexion contracture, Leukodystrophy, ... OMIM:616881
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Abnormal myelination, Progressive spastic paraplegia, Spastic gait, L... ORPHA:401840
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... OMIM:615575
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Tetraparesis, Muscl... OMIM:616827
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Gowers sign, Increased endomysial connective tissue, Lumbar hyperlordosis, Macr... ORPHA:353
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in l... OMIM:618138
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Tip-toe gait, Lower limb amyotrophy, Knee flexion contracture, Upper limb amyotro... ORPHA:496689
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Kyphoscoliosis, Small for gestational age, Arthrogryposis multiplex congenita,... OMIM:212540
Muscular Dystrophy, Becker Type
Muscular dystrophy, Muscle weakness, Calf muscle pseudohypertrophy OMIM:300376
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency due to muscle weakness, Bulbar palsy, Progressive proximal muscle weakn... ORPHA:254875
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Park... OMIM:617013
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... OMIM:616470
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment, Diabetes mellitus OMIM:172500
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Distal amyotrophy, Leg muscle stiffness, Somati... ORPHA:101010
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Babinski sign, Lower limb spasticity, Bulbar palsy, Achi... OMIM:615290
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Distal muscle weakness, Decreased motor nerve conduc... OMIM:608323
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:612999
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Inability to walk, Poor eye contact, Type 1 muscle fiber predominance,... OMIM:618276
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
King-Denborough Syndrome
Failure to thrive, Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Weakness of facial... OMIM:619542
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Small thenar eminence, Onion bulb formation, Decreased motor nerve co... OMIM:609311
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Hand muscle weakness, Decreased motor nerve con... OMIM:162500
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Decreased nerve conduction velocity, Impaired vibration sensati... ORPHA:352675
Nemaline Myopathy 3
Slender build, Nemaline bodies, Hypertonia, Spinal rigidity, EMG: myopathic abnormalities, Scolio... OMIM:161800
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Muscle weakness, Spasticity, Skeletal muscle ... OMIM:611105
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of the calf musculature, Demyelinating motor neuropathy, Decr... ORPHA:206594
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Skeletal muscle atrophy, Dystonia, Peripheral demyelination, Axonal loss OMIM:616684
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Decreased cervical spine flexion due to contractures of posterior cervical muscles, ... ORPHA:254361
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Lower-limb joint contracture, Inability to walk, Upper-limb joint contracture, Chorea, Ne... ORPHA:300605
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:614302
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Childhood-Onset Nemaline Myopathy
Facial diplegia, Increased variability in muscle fiber diameter, Difficulty walking, Limb muscle ... ORPHA:171439
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... ORPHA:2589
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Distal muscle weakness, Scoliosis, Hy... OMIM:600175
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diamete... OMIM:619065
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Dist... OMIM:605253
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Difficulty walking, Spasticity, Growth delay, Myopathy OMIM:618242
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower... ORPHA:101075
Myopathy, Myofibrillar, 8
Nemaline bodies, Gowers sign, Spinal rigidity, Scapular winging, Scoliosis, Joint contracture of ... OMIM:617258
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Abnormal myelination, Progressive spastic paraplegia, Limb tremor, Spastic gait, L... ORPHA:401820
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Rhabdomyolysis, Delayed myelination OMIM:618331
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Dis... OMIM:302801
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... ORPHA:597
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal m... ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle m... OMIM:607155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Short stature, EMG: myo... OMIM:608840
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory distress, Inability to walk, Weakness of facial musc... ORPHA:596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Proximal muscle wea... OMIM:615352
Focal Myositis
Muscle weakness, Myositis ORPHA:48918
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Distal upper limb muscle weakness, Decreased nerve conduction velocity, Abolished vibration sense... ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture, Kyphoscoliosis, Foot dorsiflexor weakness OMIM:616668
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Lower limb muscle weakness ORPHA:209004
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Lumbar hyperlordosis, Poor head control, Flexion contracture, Distal muscle weakness... ORPHA:353327
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Sternocleidoma... ORPHA:98905
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Striatonigral Degeneration, Infantile, Mitochondrial
Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle fibers, Difficult... OMIM:500003
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... OMIM:605588
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Adult-Onset Nemaline Myopathy
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... ORPHA:171442
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Autosomal Recessive Spastic Paraplegia Type 57
Babinski sign, Abnormality of peripheral nerve conduction, Spastic paraplegia, Optic atrophy, Spa... ORPHA:431329
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Decreased body weight, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticit... OMIM:617672
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, Poor head control, Diaphragmatic weakness, EMG: myopath... OMIM:614399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Ankle clonus, Increased variability in muscle fiber diam... OMIM:613954
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... ORPHA:2932
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babinski ... OMIM:607459
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy OMIM:253320
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Kyphosis, Ataxia, Skeletal muscle hypertrophy, Scoliosis, Gait disturbance, Tremor, ... ORPHA:99014
Immunodeficiency 8
Lymphopenia OMIM:615401
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Parkinsonism with favorable response to dopaminergic medication, Bradykine... OMIM:157640
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Loss of ambulation, Flexion contracture, Tip-toe gait, Hypoventilation, C... OMIM:310200
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... DECIPHER:29
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis ORPHA:565899
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Combined Oxidative Phosphorylation Deficiency 6
Tetraplegia, Ragged-red muscle fibers, Involuntary movements, Muscle weakness, Tongue fasciculati... OMIM:300816
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Classic Multiminicore Myopathy
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Poor head control, Spinal r... ORPHA:324604
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination OMIM:165200
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Distal muscle ... OMIM:601596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypertonia, Poor head control, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Musc... OMIM:615351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal muscle weakness, Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Dis... OMIM:302802
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Skin rash, Proximal muscle weakness in lower limbs, EMG: myopathic abnorma... ORPHA:206569
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... OMIM:609284
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, M... ORPHA:101082
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Kyphoscoliosis, Diaphragmatic weakness, Sensory ataxi... ORPHA:101081
Facioscapulohumeral Muscular Dystrophy 1
Beevor's sign, Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Shou... OMIM:158900
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia, Distal amyotrophy ORPHA:639
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral dem... ORPHA:99944
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis, Myopathy OMIM:613345
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb amyotro... ORPHA:99940
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Limb fa... OMIM:253400
Charcot-Marie-Tooth Disease And Deafness
Sensorineural hearing impairment, Distal muscle weakness, Decreased motor nerve conduction veloci... OMIM:118300
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy ORPHA:98916
Snijders Blok-Fisher Syndrome
Opisthotonus, Generalized hypotonia, Choreoathetosis, Spasticity, Facial hypotonia OMIM:618604
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sensory impairm... OMIM:616688
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Failure to thrive, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal ... ORPHA:96183
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Distal muscle weakness, Peripher... OMIM:610100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Macroglossia, Flexion contracture, Muscular dystrophy, Congenital muscular dys... OMIM:613155
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus, Hypotonia, Limb joint contracture, Axial hypotonia OMIM:619814
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Null Syndrome
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Progressive spa... ORPHA:280234
Hereditary Motor And Sensory Neuropathy V
Distal muscle weakness, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, ... OMIM:600361
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Thoracic scoliosis, Inabili... ORPHA:206546
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Inability to walk, Flexion contracture OMIM:617977
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Spastic Paraplegia 76, Autosomal Recessive
Ataxia, Dysmetria, Babinski sign, Scoliosis, Lower limb muscle weakness, Distal sensory impairmen... OMIM:616907
Atypical Rett Syndrome
Kyphosis, Loss of ambulation, Inability to walk, Episodic tachypnea, Poor eye contact, Pill-rolli... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Distal amyotrophy, Frequent falls... OMIM:607317
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Dysmetria, Hand tremor, Axonal degeneration, Onion bulb format... OMIM:302800
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Atlantoaxial abnormality, Hypermobility of interphalangeal joints, Shuffling gait... ORPHA:3433
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Poor head control, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... OMIM:618184
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lumbar hyperlordosis, Muscular dystrophy, Lower limb muscle weakness, Muscle w... OMIM:615980
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Distal amy... OMIM:311070
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Spinal rigidity, Short stature, Distal muscle weakness, Thoracolumbar scoli... OMIM:255600
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Spastic Paraplegia 10, Autosomal Dominant
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:604187
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Hyperkinetic movements, Scoliosis, Truncal ataxia, Chorea, ... ORPHA:369847
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Flexion contracture OMIM:168400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... OMIM:613156
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Skeletal muscle atrophy ORPHA:85162
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination, Foot dorsiflexor weakness, Distal amy... OMIM:607736
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Cerebral hypomyelination... OMIM:601170
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Joint contracture of the hand, Distal amyotrophy, Optic atrophy, Gait ataxia, Distal upper limb a... OMIM:258650
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Distal muscle weakness, Pe... ORPHA:99939
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal muscle weakness, Skeletal muscle atrophy, Paralysis, Muscle weakness OMIM:613710
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... OMIM:500009
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Gait ataxia, Spasticity OMIM:610743
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Cednik Syndrome
Sensorineural hearing impairment, Ataxia, Poor head control, Dolichocephaly, Microcephaly, Optic ... ORPHA:66631
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Severe short stature OMIM:204730
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, EMG: myopathic abnormalities, Parkinsonism, Progressive external ophthalmoplegia,... OMIM:609286
Charcot-Marie-Tooth Disease Type 4D
Sensorineural hearing impairment, Distal upper limb muscle weakness, Distal muscle weakness, Decr... ORPHA:99950
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Decreased m... OMIM:615376
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Adult onset sensor... ORPHA:1368
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... OMIM:606070
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Spinal rigidity, Flexion cont... OMIM:617114
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Developmental And Epileptic Encephalopathy 41
Lethargy, Kyphoscoliosis, Inability to walk, Flexion contracture OMIM:617105
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Flexion contracture, Optic atrophy, Spastic tetraplegia, CNS demyelination, Dy... OMIM:618237
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal muscle weakness, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Fo... OMIM:607678
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Asymmetric limb muscle stiffness, Rigidity, Myoclonic... OMIM:184850
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Progressive muscle weakness, Failure to thrive, Respiratory insufficiency due to muscle weakness,... OMIM:613561
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy OMIM:603034
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle weakness, Impaired vibratory sensation, Abnormal motor nerve condu... ORPHA:139536
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Spastic gait, Slurred ... ORPHA:972
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:604563
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Skeletal muscle hypertrophy, Asym... ORPHA:3101
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Myoclonus, Tremor, Limb muscle weakness, Muscle weakness, Facial palsy, Skeleta... ORPHA:97229
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Broad-based gait, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic... ORPHA:119
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Distal muscle weakness, Decreased motor nerve conduction velocity, Foo... OMIM:600882
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atr... OMIM:619903
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Kyphoscoliosis, Ataxia, Bradykinesia, Flexion contracture, Resting tremor, Short neck, Sco... OMIM:300055
Neutral Lipid Storage Disease With Myopathy
Short stature, Increased muscle lipid content, Difficulty walking, Fasciculations, Myopathy OMIM:610717
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Flexion contracture, Dysmetria, Ankle clonus, Lower limb muscle weakness, Camptod... OMIM:275900
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Distal amyotrophy, Tremor, Frequent falls, Gait ataxia... OMIM:611302
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Intention tremor, Dysdiadochok... ORPHA:1175
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Small for gestational age, Diaphragmatic eventration, Camptodactyly of finger,... OMIM:604320
Myopathy, Tubular Aggregate, 2
Spinal rigidity, Flexion contracture, Foot dorsiflexor weakness, Falls, Muscle weakness, Proximal... OMIM:615883
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Ga... ORPHA:95433