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:
N/A

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
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Kyphosis, Proximal muscle weakness in lower limbs, P... OMIM:618138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Scoliosis, Macroglossia, Hypoventilation, Hyperlordosis, Aspiration, Congenita... 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
Hyperlordosis, Scapular winging, Muscular dystrophy, Toe walking, Proximal muscle weakness, Achil... ORPHA:62
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlord... OMIM:613818
Distal Anoctaminopathy
Difficulty walking, Rhabdomyolysis, Proximal muscle weakness in upper limbs, Progressive muscle w... ORPHA:399096
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscle weakness, Muscular dystrophy, Gait ataxia OMIM:253590
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Proximal muscle weakness, Generalized muscle weakness, L... OMIM:613723
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
Hyperlordosis, Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, D... ORPHA:267
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscle weakness, Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue,... OMIM:617072
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Clumsines... ORPHA:603
Posterior Column Ataxia
Scoliosis, Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fiber... OMIM:616852
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Distal upper limb muscle weakness, Peroneal muscle atro... ORPHA:609
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Pelvic girdle muscle weakness, Facial palsy, Scapulohumeral muscular dystrophy,... OMIM:158901
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Scoliosis, Muscular dystrophy, Pelvic girdle muscle weakness, Proximal muscle weakness, Shoulder ... ORPHA:34515
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Late-onset distal muscle weak... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Autosomal Recessive Spastic Paraplegia Type 28
Scoliosis, Impaired tactile sensation, Pain insensitivity, Lower limb muscle weakness, Abolished ... ORPHA:101008
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Difficulty walking, Muscular dystrophy, Flexion contracture, Lumbar hyperlordosis, Spinal rigidit... OMIM:609308
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Clumsiness, Intrinsic hand muscle atrophy, Progressive distal muscl... ORPHA:399086
Laing Early-Onset Distal Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Scoliosis, Weakness of orbicularis oculi musc... ORPHA:59135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal amyotrophy, Difficulty walking, Muscular dystrophy, Proximal muscle we... OMIM:601287
Muscular Dystrophy, Congenital, Merosin-Positive
Neck muscle weakness, Scoliosis, Congenital muscular dystrophy, Flexion contracture, Respiratory ... OMIM:609456
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Progressive distal muscle weakness, Ankle flexion co... ORPHA:399103
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Gait disturbance, Weakness of th... ORPHA:98912
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Proximal muscle weakness, Distal m... OMIM:618655
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Respiratory insufficiency due to muscle weakness, Proxim... OMIM:617087
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Progressive distal muscle we... ORPHA:399058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Distal muscle w... OMIM:601846
Myopathy, Distal, 3
EMG: myopathic abnormalities, Clumsiness, Muscular dystrophy, Distal muscle weakness, Distal amyo... OMIM:610099
Central Core Disease Of Muscle
Muscle weakness, Scoliosis, Centrally nucleated skeletal muscle fibers, Central core regions in m... OMIM:117000
Desminopathy
Fatigable weakness of respiratory muscles, Thoracic kyphoscoliosis, Fatigable weakness of bulbar ... ORPHA:98909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weakness, Distal muscle weaknes... OMIM:608807
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscle weakness, Scoliosis, Gait disturbance, Muscular dystrophy, Elbow flexion contracture OMIM:616516
Muscular Dystrophy, Congenital, Lmna-Related
Neck muscle weakness, Congenital muscular dystrophy, Flexion contracture, Respiratory insufficien... OMIM:613205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Proximal muscle ... OMIM:611307
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Episodic Ataxia, Type 7
Muscle weakness, Episodic ataxia OMIM:611907
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Dyspnea, Internally nucleated skele... ORPHA:178464
Distal Myotilinopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Loss of ability to walk in firs... ORPHA:98911
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Pr... ORPHA:86812
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Tremor, Proximal amyotrophy, Respiratory insufficiency due to muscl... ORPHA:98902
Myopathy, Centronuclear, 2
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, Kyphosis, Flexion contr... OMIM:255200
Duchenne Muscular Dystrophy
Scoliosis, Flexion contracture, Proximal muscle weakness, Progressive muscle weakness, Waddling g... ORPHA:98896
Multiminicore Myopathy
Scoliosis, Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, External ophthal... ORPHA:598
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis, Distal amyotrophy OMIM:158580
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal... OMIM:613530
Miyoshi Muscular Dystrophy 3
Distal muscle weakness, Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy OMIM:613319
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system ph... ORPHA:266
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness OMIM:612998
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscle weakness, Scoliosis, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fat... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Nemaline Myopathy 4
Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fiber predominance, Nema... OMIM:609285
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Progressive distal muscle weakness, Progressive muscle weakness, Au... OMIM:609452
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Muscular... OMIM:181350
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Muscular dystrophy, Proximal muscle weakness, Gowers ... OMIM:613157
Nemaline Myopathy 5
Tremor, Proximal amyotrophy, Z-band streaming, Type 1 muscle fiber predominance, Progressive musc... OMIM:605355
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:300718
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Congenital muscular dystrophy, Muscular dystrophy, Generalized hypotonia, Hypotonia OMIM:613152
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Scoliosis, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb musc... OMIM:611225
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Flexion contracture, Lower limb muscle weakness, Wadd... OMIM:300695
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Centrally nucleated skeletal muscle fibe... OMIM:618484
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Clumsiness, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facia... OMIM:253600
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Muscular dystrophy, Progressive distal muscular atrophy, Oculomotor apraxia, Ataxia, So... ORPHA:459033
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular Schwannoma, Distal sensory impairment, Foot dorsiflexor weakness OMIM:613641
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Gait dist... ORPHA:276435
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Scoliosis, Lower limb muscle weakness, Distal muscle weakness, Type 1 muscle fib... OMIM:619042
Acid Phosphatase Deficiency
Opisthotonus, Generalized hypotonia, Hypotonia OMIM:200950
Myopathy And Diabetes Mellitus
Inability to walk, Impaired vibratory sensation, Weakness of orbicularis oculi muscle, Proximal a... ORPHA:2596
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Distal lower limb muscle weakness, Paresis of extensor muscles of the big... OMIM:158590
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Fasciculations, Limb muscle weak... ORPHA:641
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Flexion contracture, Centrally nucleated skeletal ... OMIM:248800
Muscular Dystrophy, Congenital, Megaconial Type
Muscle weakness, Congenital muscular dystrophy, Muscular dystrophy, Gowers sign, Waddling gait, F... OMIM:602541
Nemaline Myopathy 2
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal mu... OMIM:256030
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Centrally nuc... ORPHA:401768
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging OMIM:310095
Bethlem Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Reduced muscle collagen VI, Scoliosis, Muscul... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscle weakness, Muscular dystrophy, Gowers sign OMIM:616094
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weakness, Muscle fiber splittin... OMIM:253601
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle we... OMIM:255310
Myopathy, Myofibrillar, 6
Scoliosis, EMG: myopathic abnormalities, Diaphragmatic paralysis, Muscular dystrophy, Facial pals... OMIM:612954
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Scoliosis, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, ... OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Scapular winging, Proximal amyotrophy, Gait disturbance, Back pain, Proximal muscl... OMIM:618129
Autosomal Recessive Spastic Paraplegia Type 76
Scoliosis, Gait ataxia, Limb ataxia, Lower limb muscle weakness, Ataxia, Ankle clonus, Lower limb... ORPHA:488594
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Merrf
Myopathy, Ragged-red muscle fibers, Short stature, Ataxia ORPHA:551
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Lower limb muscle weakness, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination/remyelination, Segmental peripheral demyelination, Onion bulb ... OMIM:606483
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Muscle weakness, Spinal muscular atrophy, Gait disturbance, Distal sensory impairment, Skeletal m... OMIM:614881
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Myoclonus, Myopathy, Spasticity OMIM:545000
Oculopharyngodistal Myopathy
Distal upper limb muscle weakness, Abnormality of masseter muscle, Weight loss, Distal lower limb... ORPHA:98897
Striatonigral Degeneration, Infantile, Mitochondrial
Frequent falls, Difficulty walking, Babinski sign, Ragged-red muscle fibers, Paroxysmal choreoath... OMIM:500003
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Proximal muscle weakness, Distal muscle weakness, Waddling gait, Rimmed... OMIM:617760
Myositis
Myositis, Proximal muscle weakness OMIM:160750
Dpm3-Cdg
Muscle weakness, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babinski sig... ORPHA:263494
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal muscle weakness, Sensorineural hearing impairme... OMIM:613287
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Lumbar hyperlordosis, Unsteady gait, Gowers sign, Calf muscle pse... ORPHA:280333
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb formation, Distal amyotrophy, De... OMIM:182815
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Joint hyperflexibility, Gait disturbance, Flexion contracture, Respiratory insuffi... ORPHA:157973
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Difficulty walking, Loss of ability ... ORPHA:399081
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Scoliosis, Internally nucleated skeletal muscle fibers, Proximal muscle weakness... OMIM:618654
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Respiratory distress, Ataxia, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Congenital muscular dystro... ORPHA:370980
Myopathy, Distal, 1
Neck muscle weakness, Scoliosis, Gait disturbance, Proximal muscle weakness, Distal muscle weakne... OMIM:160500
Immunodeficiency 40
Lymphopenia OMIM:616433
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Scoliosis, Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness, Distal amyotrop... OMIM:601472
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Distal upper limb muscle weakness,... ORPHA:90103
Rigid Spine Muscular Dystrophy 1
Scoliosis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contractu... OMIM:602771
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Hypertrophic nerve changes, Dist... OMIM:601098
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Truncal ataxia, Difficulty walking, Chorea, Muscular dystrophy, Limb-girdle muscul... ORPHA:369840
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Polyglucosan Body Myopathy 2
Distal muscle weakness, Limb-girdle muscle weakness, Difficulty walking, Skeletal muscle atrophy OMIM:616199
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Episodic Ataxia, Type 8
Muscle weakness, Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Minicore Myopathy With External Ophthalmoplegia
Scoliosis, External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Muscular dy... OMIM:255320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness, Unsteady gait, Gowers ... OMIM:612937
Nemaline Myopathy 7
Myofibrillar myopathy, Nemaline bodies, Minicore myopathy OMIM:610687
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Scapuloperoneal weakness, Flexion contracture, Back pain, Proximal muscle weakn... OMIM:300696
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Myopathy, Spheroid Body
Tremor, Proximal amyotrophy, Waddling gait, Skeletal muscle atrophy, Myopathy, Broad-based gait OMIM:182920
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Distal muscle weakness, Hand muscle atrophy, Fa... OMIM:607641
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Distal muscle weakness, Skeletal muscle at... ORPHA:101078
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Scoliosis, Overweight, Centrally nucleated sk... ORPHA:486815
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Pleoconial Myopathy With Salt Craving
Myopathy, Paralysis, Proximal amyotrophy OMIM:262900
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Distal muscle weakness, Abno... OMIM:601382
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Fatigable weakness, Scoliosis, Proximal muscle weakness OMIM:614750
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Myopathy, Proximal, With Ophthalmoplegia
Neck muscle weakness, Scoliosis, Scapular winging, Congenital contracture, Proximal muscle weakne... OMIM:605637
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Frequent falls, Impaired vibratory sensation, Lower limb muscle weakness, Proximal muscle weaknes... OMIM:616924
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness, Difficulty walking OMIM:619024
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Distal amyotrophy, Decreased number of large peripheral myelinated nerve fi... OMIM:608340
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, M... OMIM:158810
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Scoliosis, Joint laxity, Congenital muscular dystrophy, Respiratory i... OMIM:254090
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelina... OMIM:607791
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Spastic diplegia, Ataxia, Myoclonus, Short s... OMIM:619065
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Proximal musc... ORPHA:97240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Hyperlordo... OMIM:606612
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myasthenic Syndrome, Congenital, 18
Muscle weakness, Flexion contracture, Difficulty walking, Ataxia OMIM:616330
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Flexion contracture, Rigidity OMIM:613869
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
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, Ragged-red muscle fibers, Facial palsy OMIM:609283
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Proximal muscle weakness OMIM:613158
Spinal Muscular Atrophy, Jokela Type
Tremor, Spinal muscular atrophy, Difficulty walking, Skeletal muscle atrophy, Fasciculations, Cal... OMIM:615048
Amyotrophic Lateral Sclerosis 8
Postural tremor, Proximal muscle weakness, Distal muscle weakness, Progressive muscle weakness, S... OMIM:608627
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Scapular winging, Flexion contracture, Fatigable weakness, Gowers sign,... OMIM:616228
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis, Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture, Gowers sign OMIM:611588
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Dist... OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Axonal degeneration/re... OMIM:607677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscle weakness, Inability to walk, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, ... OMIM:615350
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Distal lower limb mus... ORPHA:497764
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Roussy-Lévy Syndrome
Scoliosis, Genu valgum, Postural tremor, Gait ataxia, Intrinsic hand muscle atrophy, Difficulty w... ORPHA:3115
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber ... ORPHA:169186
Congenital Myopathy With Myasthenic-Like Onset
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Respiratory insuffic... ORPHA:424107
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... ORPHA:401840
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Juvenile Amyotrophic Lateral Sclerosis
Scoliosis, Dystonia, Axial dystonia, Hypertonia, Spastic diplegia, Head titubation, Toe walking, ... ORPHA:300605
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Joint hyperflexibility, Gait disturbance, Congenital muscular dystrophy, Kyphosis ORPHA:1875
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal amyotrophy, Foot dorsiflexor weakness, Decreased number of peripheral... OMIM:607731
Neuronopathy, Distal Hereditary Motor, Type Iid
Spinal muscular atrophy, Difficulty walking, Weakness of the intrinsic hand muscles, Lower limb m... OMIM:615575
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Kyphosis, Proximal muscle weakness in lower limbs, P... OMIM:618138
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Respiratory insufficiency due to muscle weakness, Progres... ORPHA:663
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:118220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Muscular dystrophy, Flexion contracture, Gowers sign, Right ventricular... OMIM:253700
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Scoliosis, Spinal muscular atrophy, Difficulty walking, Respiratory insufficienc... ORPHA:254875
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Hypertonia, Flexion contracture, Ataxia, Failure to thrive, ... OMIM:616881
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Arthrogryposis multiplex congenita, Small for gestational age, Failure to thrive, Kyphoscoliosis,... OMIM:212540
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Frequent falls, Difficulty walking, Quadriceps muscle weakness, Pelvic girdle m... OMIM:603689
Childhood-Onset Nemaline Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Scoliosis, Arthrogryposis multiplex congenita... ORPHA:171439
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Toe walking, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contrac... ORPHA:496689
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Opisthotonus, Hypertonia, Muscular hypotonia of the trunk, Skeletal muscle atrophy OMIM:616896
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscle weakness, Macroglossia, Muscular dystrophy, Tetraparesis, Triangular tongue, Skeletal musc... OMIM:616827
Muscular Dystrophy, Becker Type
Muscle weakness, Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Ullrich Congenital Muscular Dystrophy 2
Joint hypermobility, Congenital muscular dystrophy, Flexion contracture, Facial palsy, Kyphoscoli... OMIM:616470
Spastic Paraplegia 42, Autosomal Dominant
Muscle weakness, Spastic paraplegia, Spastic gait, Babinski sign, Skeletal muscle atrophy OMIM:612539
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness OMIM:612999
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Diabetes mellitus, Cochlear degeneration, Ataxia OMIM:172500
X-Linked Charcot-Marie-Tooth Disease Type 6
Lower limb muscle weakness, Sensorineural hearing impairment, Impaired vibration sensation in the... ORPHA:352675
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Short neck OMIM:168400
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Limb tremor, Lower limb spasticity, Generalized amyotrophy, Spastic gait, B... ORPHA:401820
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Muscle weakness, Tremor, Flexion contracture, Ataxia, Babinski sign, Skeletal muscle atrophy, Spa... OMIM:611105
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Muscular hypotonia of the trunk, Opisthotonus... OMIM:612389
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Leg muscle stiffness, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:101010
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis, Hand muscle weakness, Congenital foot contraction deformities, Difficulty walking,... ORPHA:363454
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Generalized amyotrophy, Myoclonus, Intent... ORPHA:2589
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Congenital muscular torticollis, Toe walking, Elbow flexion contr... ORPHA:536516
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Proximal muscle weakness in ... OMIM:619216
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Decreased motor nerve conduction velocity, Peri... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Distal muscle weakness, Decreased motor nerve conduction velocity, Limb muscle weakness, Distal s... OMIM:614228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Scoliosis, Arthrogryposis multiplex congenita, Hyper... OMIM:161800
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Loss of ability to walk, Pelvic girdle muscle weakness, Achilles te... ORPHA:254361
B4Galt1-Cdg
Myopathy ORPHA:79332
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Distal lower limb amyotrophy, Impaired pai... ORPHA:101075
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Distal muscle... OMIM:611228
Myopathy, Myofibrillar, 8
Neck muscle weakness, Muscle weakness, Scoliosis, Scapular winging, Centrally nucleated skeletal ... OMIM:617258
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Rhabdomyolysis, Delayed myelination OMIM:618331
Central Core Disease
Congenital hip dislocation, Joint laxity, Central core regions in muscle fibers, Pelvic girdle mu... ORPHA:597
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Foo... OMIM:302801
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Foot dorsiflexor weakness, Ankle flexion contracture, Kyphoscoliosis OMIM:616668
Autosomal Dominant Spastic Paraplegia Type 4
Leg muscle stiffness, Impaired vibration sensation at ankles, Lower limb muscle weakness, Ataxia,... ORPHA:100985
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Congenital Muscular Dystrophy, Ullrich Type
Muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Scoliosis, Short... ORPHA:75840
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Neck muscle weakness, Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness OMIM:614302
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscle weakness, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Proximal muscle wea... OMIM:615352
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal amyotrophy, Peripheral axonal neuropathy... OMIM:608673
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Focal Myositis
Muscle weakness, Myositis ORPHA:48918
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Abnormality of peripheral nerve conduction, Abnormal myelination, Distal lowe... ORPHA:431329
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Lower limb muscle weakness, Cryoglobulinemia ORPHA:209004
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Loss of abili... OMIM:616812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Difficulty walking, Congenital muscular dystrophy, Kyphos... OMIM:607155
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Impaired pain sensation, Distal upper limb muscle weakness, Paresthesia, Impaired tactile sensati... ORPHA:435387
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Fatiguable weakness of proximal limb muscles, Spontaneous pain sensa... ORPHA:2932
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Scapular winging, Frequent falls, Muscle fiber tubular inclusions, Ragged-red muscle f... ORPHA:353327
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Mental Retardation, Autosomal Recessive 60
Microcephaly, Delayed myelination, Small for gestational age OMIM:617432
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Bethlem Myopathy 2
Muscle weakness, Scapular winging, Kyphosis, Flexion contracture, Myopathy OMIM:616471
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Spastic tetraplegia, Failure to thrive, Peripheral demyelination, Myopathy, ... OMIM:618237
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Spinal muscular atrophy OMIM:182980
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Scoliosis, Tremor, Paraparesis, Gait disturbance, Skeletal muscle hypertrophy, K... ORPHA:99014
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Growth delay, Ataxia, Babinski sign, Myopathy, Spasticity OMIM:618242
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Congenital Multicore Myopathy With External Ophthalmoplegia
Scoliosis, External ophthalmoplegia, Muscular dystrophy, Muscle fiber hypertrophy, Shoulder girdl... ORPHA:98905
Immunodeficiency 8
Lymphopenia OMIM:615401
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Rigidity, Parkinsonism with favorable response to dopa... OMIM:157640
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Generalized muscle weakness, Ty... ORPHA:178145
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... OMIM:300580
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Mitochondrial Myopathy, Infantile, Transient
Neck muscle weakness, Increased muscle glycogen content, Muscle weakness, Macroglossia, Increased... OMIM:500009
Cednik Syndrome
Pachygyria, Macrotia, Dolichocephaly, Poor head control, Ataxia, Abnormal corpus callosum morphol... ORPHA:66631
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetrapares... OMIM:607483
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Skin rash, Scapular winging, Fatiguable weakness of proximal limb m... ORPHA:206569
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Tremor, Distal muscle weakness, Distal amyotrophy, Skeletal muscle atrophy OMIM:614369
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Elbow ankylosis, Failure to thrive, Kyphoscoliosis, Osteochondrosi... ORPHA:96183
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Sensorineural hearing impairme... OMIM:118300
Classic Multiminicore Myopathy
Scoliosis, Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy,... ORPHA:324604
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb amyotrophy, Steppage gait, L... ORPHA:99940
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Scoliosis, Paraparesis, Distal muscle weakness, Distal amyotrophy, Distal sensory impairment, Ste... OMIM:302802
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Charcot-Marie-Tooth Disease Type 1B
Muscle weakness, Peripheral dysmyelination, Somatic sensory dysfunction, Hearing impairment, Peri... ORPHA:101082
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Myoclonus, L... OMIM:602629
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Difficulty walking, Short stature, Fasciculations, Myopathy OMIM:610717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Decreased nerve conduction velocity, Skeletal muscle atrophy, Peripheral dem... ORPHA:99944
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Distal amyotrophy, Monoclonal immunoglobulin M proteinemia ORPHA:639
Charcot-Marie-Tooth Disease Type 1A
Sensory ataxia, Paresthesia, Gait disturbance, Distal muscle weakness, Kyphoscoliosis, Distal sen... ORPHA:101081
Nemaline Myopathy 1
Neck muscle weakness, EMG: myopathic abnormalities, Shoulder girdle muscle atrophy, Scoliosis, Fl... OMIM:609284
Snijders Blok-Fisher Syndrome
Generalized hypotonia, Facial hypotonia, Opisthotonus, Choreoathetosis, Spasticity OMIM:618604
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy ORPHA:98916
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Distal amyotrophy, Myoclonus, Babinski sign, Fasciculation... OMIM:607317
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Distal muscle weakness, Onion bulb formation, Hearing impairment, Abnormal auditory ... OMIM:601455
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal muscle weakness, Onion bulb formation, Peripher... OMIM:610100
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sensory impairment, Dec... OMIM:615376
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Kyphosc... ORPHA:3433
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, External ophthalmoplegia, Shoulder girdle muscl... OMIM:158900
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal muscle weakness, Peripheral axonal neuropathy, ... OMIM:600361
Spinocerebellar Ataxia Type 35
Neck muscle weakness, Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progr... ORPHA:276193
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Skeletal muscle atrophy, Peripheral demyelination OMIM:616684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscle weakness, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hyperton... OMIM:615351
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Flexion contracture, Kyphoscoliosis OMIM:617977
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Dystonia, Gait ataxia, Sudden episodic apnea, Sco... ORPHA:3095
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Peripheral demyelination, Spastic ataxia, Chorea, Erratic myoclonus, Abnorma... ORPHA:397946
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Scoliosis, Knee clonus, Lower limb muscle weakness, Ankle clonus, Ataxia, Low... OMIM:604187
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Scoliosis, Gait ataxia, Difficulty walking, Lower limb muscle weakness, Ataxi... OMIM:616907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contr... OMIM:613155
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Inability to walk, Myopathy OMIM:616321
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Hand muscle weakness, Decreased motor nerve conduction velocity, Frequent falls, Incoordi... OMIM:302800
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Flexion contracture, Decreased num... OMIM:607706
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Gait ataxia, Distal amyotrophy, Joint contracture of the hand, Peripheral demyelination, Optic at... OMIM:258650
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Distal amyotrophy, Segmental peripheral demyelination/remyelination, Optic ... OMIM:311070
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Spinocerebellar Ataxia 35
Neck muscle weakness, Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intenti... OMIM:613908
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the trunk, Frequent ... OMIM:616921
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scapular winging, Spinal muscular atrophy, Toe walking, Achilles tendon contracture, Waddling gai... OMIM:615290
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Involuntary movements, Respiratory insufficiency due to muscle weakness, Skeleta... OMIM:300816
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Skeletal muscle atrophy ORPHA:85162
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Null Syndrome
Peripheral demyelination, Progressive spastic quadriplegia, Demyelinating peripheral neuropathy, ... ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Axonal degeneration/regeneration, Foot dorsiflexor weakness, Peripheral demyel... OMIM:607736
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal sign, Decre... OMIM:617672
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Scoliosis, Truncal ataxia, Difficulty walking, Chorea, Limb-girdle muscular dystrophy, Hyperkinet... ORPHA:369847
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Nemaline bodies, Facial palsy OMIM:615348
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Lower limb muscle weakness, Abnormal motor evoked potentials, Proximal muscle weakness, Distal mu... ORPHA:99939
Stiff-Person Syndrome
Axial muscle stiffness, Proximal limb muscle stiffness, Opisthotonus, Exaggerated startle respons... OMIM:184850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Sensory ataxia, Gait disturbance, Progressive external ophthalmople... OMIM:609286
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexio... OMIM:613156
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Dist... ORPHA:99950
Myopathy, Myofibrillar, 7
Muscle weakness, Scoliosis, Type 2 muscle fiber predominance, Difficulty walking, Thoracic kyphos... OMIM:617114
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Severe short stature OMIM:204730
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Myoclonus, Infantile muscular h... OMIM:612736
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Pelvic girdle muscle atrophy, Gait di... OMIM:167320
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Dysmetria, Spasticity OMIM:610743
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Decreased... ORPHA:1368
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Arthrogryposis multiplex congenita, Hyperkinetic movements, Congenit... OMIM:618285
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Spinal muscular atrophy, Difficulty walking, Respiratory insufficiency ... OMIM:611067
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Positive Romberg sign, Impaired distal proprioception, Gait ataxia,... OMIM:258450
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... OMIM:601170
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Upp... OMIM:607678
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Progressive muscle weakness, Generalized amyotrophy, Failure to thrive, Respiratory insufficiency... OMIM:613561
D-Glyceric Aciduria
Neonatal hypotonia, Muscular hypotonia of the trunk, Opisthotonus, Spastic tetraplegia, Myoclonus OMIM:220120
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Flexion contracture, Kyphoscoliosis OMIM:617105
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Hereditary Continuous Muscle Fiber Activity
Slurred speech, Ataxia, Type 1 muscle fiber predominance, Spastic gait, Congenital diaphragmatic ... ORPHA:972
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Distal lower limb muscle ... ORPHA:139536
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia OMIM:250800
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Sensorineural hearing impairment, Ataxia, Decreased nerve conduction v... ORPHA:1188
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Richieri Costa-Da Silva Syndrome
Inability to walk, Genu valgum, Decreased muscle mass, Generalized bone demineralization, Beaking... ORPHA:3101
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Myopathy, Decreased muscle mass, Limb muscle weakness OMIM:603034
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Re... ORPHA:1145
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, S... OMIM:606777
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Ophthalmoplegia, Distal sensory impairment, Decreased nerve conduction velo... OMIM:615284
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Myopat... ORPHA:119
Myopathy, Tubular Aggregate, 2
Neck muscle weakness, Muscle weakness, Flexion contracture, Proximal muscle weakness, Generalized... OMIM:615883
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Riboflavin Transporter Deficiency
Muscle weakness, Tremor, Limb muscle weakness, Ataxia, Facial palsy, Cachexia, Skeletal muscle at... ORPHA:97229
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Muscle weakness, Contractures of the joints of the lower limbs, Paralysis, Skeletal muscle atrophy OMIM:613710
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Goiter, Hypothyroidism, Ataxia, Enlarged vestibular aqueduct,... ORPHA:705
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Flexion contracture, Respiratory distress, Kyphoscoliosis OMIM:618006
Ravine Syndrome
Decreased body weight, Ataxia, Abnormality of the basal ganglia, Abnormal auditory evoked potenti... ORPHA:99852
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Progressive external ophthalmoplegia, Generalized muscle weakness, At... OMIM:613662
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Skeletal muscle atrophy, Involuntary movements, Tongue fasciculation... ORPHA:238329
Spastic Paraplegia 20, Autosomal Recessive
Hyperextensible hand joints, Difficulty walking, Camptodactyly, Flexion contracture, Lower limb m... OMIM:275900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Platyspondyly, Enlarged interphalangeal joints, Joint swel... OMIM:208230
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Distal amyotrophy, Dysmetria, Babinski sign... OMIM:611302
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Distal amyotrophy, Dysmetria, Limb fascicu... OMIM:606183
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Scoliosis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cere... ORPHA:1175
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Skeletal muscle atrophy, Fasciculations, Rigidity, Spasticity OMIM:183050
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Progressive cerebellar ataxia, Hearing impairment, Impaired v... ORPHA:95433
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Isaac Syndrome
Muscle weakness, Weight loss, Distal sensory impairment, Fasciculations, Calf muscle hypertrophy ORPHA:84142
Typical Nemaline Myopathy
Scoliosis, Arthrogryposis multiplex congenita, Waddling gait, Short neck, Limb-girdle muscle weak... ORPHA:171436
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Muscular dystrophy, Flexion contracture, Hypoglycosyla... ORPHA:272
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Pendred Syndrome
Compensated hypothyroidism, Goiter, Cochlear malformation, Vestibular dysfunction, Thyroid carcin... OMIM:274600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Frequent falls OMIM:618279
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, External ophthalmoplegia, Weight loss, Cachexia, Failure to thrive OMIM:612075
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Myoclonus, Hypotonia OMIM:159900
Combined Oxidative Phosphorylation Deficiency 13
Poor head control, Sensorineural hearing impairment, Choreoathetosis, Decreased nerve conduction ... OMIM:614932
Usher Syndrome Type 1
Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment... ORPHA:231169
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Muscular dystrophy, Proximal muscle weakness OMIM:615980
Combined Oxidative Phosphorylation Deficiency 27