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Gene: Afg3l2 MGI:1916847

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
AFG3-like AAA ATPase 2
Synonyms:
par,  Emv66,  2310036I02Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Afg3l2 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 Afg3l2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 28
Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ... OMIM:610246
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Dysmetria, Spas... ORPHA:313772
Spinocerebellar Ataxia Type 28
Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, O... ORPHA:101109
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdiadochokine... OMIM:614487
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977

The table below shows human diseases predicted to be associated to Afg3l2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal muscle fibers, A... OMIM:271150
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... ORPHA:178400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... OMIM:604484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... OMIM:619733
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor... ORPHA:247604
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... ORPHA:90103
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Peripheral axonal degene... OMIM:302800
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Abn... ORPHA:95434
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:605285
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ... OMIM:158600
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Limb mus... OMIM:500002
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... OMIM:615424
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... ORPHA:401768
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping OMIM:614369
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... OMIM:614436
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gli... OMIM:213200
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... ORPHA:99947
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Diaphragmatic para... OMIM:620011
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Small for gestational age, Spinal muscula... OMIM:604320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... OMIM:167320
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... OMIM:253400
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Vocal cord paresis OMIM:158580
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Distal muscle weakness, Spinal muscular atrophy, Proximal... OMIM:611067
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... OMIM:105500
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... OMIM:607706
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... OMIM:619178
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Achille... ORPHA:2596
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... OMIM:620068
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Babin... OMIM:611105
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Gliosis, Neuronal loss in central nervous system OMIM:143100
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Progressive external ophthalmoplegia, Cerebellar atrophy, Ataxia,... OMIM:208920
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... OMIM:620235
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... OMIM:602099
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lowe... ORPHA:309169
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Myopathy, Centronuclear, 4
Frequent falls, Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal m... OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Poor head control, Fa... ORPHA:353327
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... OMIM:616228
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... OMIM:158590
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... OMIM:614321
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Prog... OMIM:620285
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Distal muscle weakness, Paralysis, Distal sensory impairment, Lower-limb... OMIM:613710
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Gliosis, Global brain atrophy OMIM:236792
Oculopharyngodistal Myopathy
Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs,... ORPHA:98897
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616437
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Gait disturbance, Gait imbalance, G... OMIM:618369
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of periphe... ORPHA:65684
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Fatty replacemen... ORPHA:52430
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Pa... OMIM:611890
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Chorea, Limb ataxia, Dysm... OMIM:607136
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... OMIM:618823
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs,... ORPHA:99013
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Somatic sensory dysfunction, Proximal muscle weakness, Ragged-red m... OMIM:616924
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... OMIM:605820
Arts Syndrome
Ataxia, Progressive muscle weakness, Optic atrophy, Tetraplegia, Spinal cord posterior columns my... OMIM:301835
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneratio... OMIM:618811
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Impaired temperature sensatio... OMIM:619574
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... OMIM:157640
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Impaired distal vibrat... ORPHA:276435
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness OMIM:616231
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Combined Oxidative Phosphorylation Deficiency 46
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV OMIM:618952
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:617066
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... OMIM:618940
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... OMIM:612999
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:608634
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... OMIM:616287
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Progressive gait ataxia, ... ORPHA:276244
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Respiratory insufficiency due to muscle weakness,... ORPHA:2590
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Respiratory insufficiency due to muscle weak... OMIM:618276
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... ORPHA:86812
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... OMIM:181400
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Hand muscle weakness, Hypoesthesia, Vocal cord ... OMIM:162500
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Congenital Myopathy 3 With Rigid Spine
Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:602771
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... ORPHA:101097
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy,... OMIM:617018
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... ORPHA:300605
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... OMIM:608340
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... OMIM:619042
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dystonia OMIM:300857
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot... OMIM:182980
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... ORPHA:97240
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Distal muscle weakness, Ataxia, Peripheral axonal neuropathy, Tr... OMIM:607317
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:255200
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Vocal cord pares... OMIM:614895
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... OMIM:603034
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn... OMIM:616155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Resting tremor, Lower limb spasticity, Distal muscle weakness, Corp... OMIM:601162
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili... OMIM:619473
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity, Muscle weakness OMIM:545000
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... ORPHA:603
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Onion bulb formation, Distal muscle weakness, Facial palsy, Impaired pain se... OMIM:607684
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... OMIM:611705
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Atrophy/Degeneration involv... ORPHA:225154
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Demyelinating s... OMIM:618387
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... OMIM:614373
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... ORPHA:169186
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p... OMIM:616209
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... OMIM:614298
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... ORPHA:88628
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... ORPHA:1320
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne... OMIM:612577
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Muscle weakness, Gait ataxia ORPHA:401953
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Type 1 muscle fiber predominance OMIM:616304
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations OMIM:619141
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity OMIM:611895
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... OMIM:604168
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Involuntary movements, Generalized muscle weakness, Tongue fasciculation... ORPHA:238329
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... ORPHA:486815
Myopathy, Myofibrillar, 8
Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Proximal muscle wea... OMIM:617258
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Babinski sign, Cerebellar vermis atrophy, Limb ataxia, Dysmetria, S... ORPHA:1175
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... OMIM:609200
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... OMIM:609524
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... OMIM:620166
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Demyelinating peripheral neuropathy, Limb ataxia, Hand tremor, D... OMIM:607596
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness OMIM:614808
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... OMIM:616286
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... ORPHA:98913
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropat... OMIM:616668
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Gliosis, Cerebellar hypo... OMIM:225753
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Abnormal... ORPHA:401820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, M... OMIM:258450
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... ORPHA:254361
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... ORPHA:98896
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finge... OMIM:614399
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... ORPHA:457050
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... OMIM:300718
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w... OMIM:612069
Spinocerebellar Ataxia 18
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... OMIM:607458
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Respiratory paralysis, In... ORPHA:681
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... OMIM:612937
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in... ORPHA:254875
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Childhood-Onset Nemaline Myopathy
Scapular winging, Fatigable weakness of bulbar muscles, Respiratory insufficiency due to muscle w... ORPHA:171439
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscl... OMIM:619790
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal muscle weakness, Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased ... OMIM:618279
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy... OMIM:619065
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,... OMIM:300816
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... OMIM:605809
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Gait disturbance, Dystonia, Neuronal loss in central nervous system, Cerebral corti... OMIM:600795
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Abnor... ORPHA:330050
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophtha... ORPHA:254886
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal... OMIM:256600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Optic atrophy, Spasticity, Failure to thrive ORPHA:772
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Distal sensory impairm... OMIM:263570
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Central... OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Corpus callosum atrophy, Gait disturbance, Shuffling gait, Gliosis, ... OMIM:221820
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system ORPHA:204
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... ORPHA:101085
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... OMIM:160500
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Myoclonus, Apraxia, Abnormal upper... OMIM:221770
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Generalized hyp... OMIM:254210
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... OMIM:162100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:171863
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Progressive muscle weakness, Ragged... OMIM:607426
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Peroneal muscle atrophy, Thenar muscle atrophy, Degeneration of the latera... ORPHA:171617
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia ORPHA:423296
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Distal muscle weakness, Postura... OMIM:270685
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Demyelinating motor neuropathy, Motor conducti... ORPHA:206594
Hsd10 Mitochondrial Disease
Choreoathetosis, Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Tremor,... OMIM:118300
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... OMIM:617892
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Cerebral a... ORPHA:412217
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy ORPHA:98773
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidism, Gait distur... OMIM:300957
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... OMIM:615957
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness OMIM:205250
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystr... OMIM:614561
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... ORPHA:324581
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Leukodystrophy, Spasticity OMIM:618242
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Peripheral axonal neuropathy, Facial pals... OMIM:617519
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... OMIM:608030
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... OMIM:253601
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gliosis, Gait disturbance, Decreased testicular size, Cerebellar dysplasia ORPHA:457240
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... ORPHA:75840
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of ant... ORPHA:2254
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross... OMIM:619903
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Clonus... OMIM:616479
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Hand muscle weak... ORPHA:99965
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar hypoplasia, Difficulty ... ORPHA:280210
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... OMIM:620351
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Spinal cord posterior columns myelin loss,... ORPHA:98756
Spinocerebellar Ataxia 28
Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ... OMIM:610246
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... OMIM:609283
Huntington Disease-Like 1
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Gait disturbance, Gliosis, Cerebral cortical ... ORPHA:157941
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet... ORPHA:169189
Myopathy, Distal, 3
Distal muscle weakness, Clumsiness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu... OMIM:610099
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Cere... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Cere... ORPHA:276241
Porphyria, Acute Hepatic
Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Babinski sign, Spastic paraplegia, Abnormal myelination, Spasticity... ORPHA:431329
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Gait ataxia, Central nervous system degeneration, Progressive cerebellar ataxia, ... ORPHA:282166
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... OMIM:600462
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Lower limb muscle weakness, Clonus, Peroneal muscle atrophy, Degeneration ... ORPHA:100989
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Spinocere... OMIM:617916
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predomi... OMIM:619542
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gait disturbance, Difficulty walking ORPHA:352470
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp... OMIM:500013
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Ataxia, Gliosis OMIM:612936
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... ORPHA:270
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Prolonged miniature endplate currents, Axial muscl... ORPHA:98915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... OMIM:617069
Immunoneurologic Disorder, X-Linked
Neonatal death, Progressive proximal muscle weakness, Spastic paraplegia, Small for gestational age OMIM:300076
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Quadricep... OMIM:620389
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cere... OMIM:607454
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... OMIM:620161
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Fatiguable weakness of proximal limb muscles, Abnormality of... ORPHA:90117
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Cerebral atrophy, Gliosis, Br... OMIM:604377
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Peripheral... OMIM:617070
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Neck flexor weakness, Facial palsy, Frequent falls, Proximal muscle weakness, Respi... OMIM:161800
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Cerebellar gliosis, Cerebral atrophy, Gliosis, Dystonia, Basal ganglia... ORPHA:79243
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal motor function, Dystonia OMIM:615159
Triosephosphate Isomerase Deficiency
Optic disc pallor, Skeletal muscle atrophy, Tremor, Progressive muscle weakness, Respiratory insu... OMIM:615512
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Gliosis, Cerebral atrophy OMIM:615095
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... OMIM:254130
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Lim... OMIM:109150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu... OMIM:603511
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... OMIM:609285
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... ORPHA:972
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Myoclonus, Intractable, Neonatal
Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus, Increased variability i... OMIM:617235
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Frequent falls, Gowers sig... ORPHA:353
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia, Cereb... OMIM:618637
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dyst... OMIM:618416
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... OMIM:616165
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel... OMIM:300580
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Ophthalmoplegia, Flexion contracture, Optic atrophy, Ragged-red muscle fibers, ... OMIM:252011
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyr... ORPHA:98757
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Akinesia, Choreoathetosis, Truncal ataxia, Decreased activity of mitochondria... OMIM:618249
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Dystonia, Cerebral ... OMIM:277470
Poliomyelitis
Skeletal muscle atrophy, Bulbar palsy, Abnormal motor nerve conduction velocity, Hypoplasia of th... ORPHA:2912
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Decreased nerve conduction ... ORPHA:397744
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Neurode... OMIM:615919
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Decreas... ORPHA:101078
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Gliosis, Cerebellar hypoplasia, Abnormal astrocyte morphology ORPHA:168486
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... ORPHA:424107
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity ORPHA:217012
Dpm3-Cdg
Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle... ORPHA:263494
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Abnormal cerebellum morphology, Ataxia, Gliosis OMIM:169500
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa... ORPHA:79139
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Neurodegeneration, Gliosis, D... OMIM:616239
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Gait disturbance, Astrocytosis ORPHA:275864
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Cerebral atrophy, Myopathy, Hyperkinetic movements,... ORPHA:369847
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Generalized mus... OMIM:612954
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Park... ORPHA:329478
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... OMIM:301830
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... OMIM:615157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Proximal muscle weakness, Ragged-re... ORPHA:70595
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Myopathy, Increased ... OMIM:125250
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Distal muscle weakness, Impaired pain sensation, Tremor, Limb ataxia, Di... OMIM:616719
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Hemiplegia/hemiparesis, Ra... ORPHA:480
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Distal amyotrophy, Spastic pa... ORPHA:909
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Riboflavin Transporter Deficiency
Optic disc pallor, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor,... ORPHA:97229
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Abnormal mito... ORPHA:543470
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... ORPHA:319514
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Akinesia, Tremor, Cerebral atrophy, Neurodegeneration, Dystonia OMIM:300894
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Bulbar palsy, Pa... ORPHA:99857
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Muscle weakness, Fasciculations OMIM:613435
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a... ORPHA:401830
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu... OMIM:254090
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Ataxia, Cachexia, Ragged-red muscle fibers, Generalized mus... OMIM:613662
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... ORPHA:34515
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... ORPHA:99014
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... OMIM:607855
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myopathy, Periodic paralysis OMIM:613345
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi... OMIM:615911
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:614959
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia, Muscle weakness OMIM:618951
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Poor head control, Generalized muscle weakness, Decreased miniature endplate potentials, Prolonge... OMIM:616321
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Distal sensory impairment OMIM:604218
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Distal amyotrophy, Ataxia OMIM:619099
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Tremor, Dysmetria OMIM:615578
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Tremor, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Rigidity... OMIM:183090
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Myoclonus,... OMIM:612016
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Cerebellar atrophy, Ataxia OMIM:615945
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Intention trem... ORPHA:247234
Muscle Filaminopathy
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... ORPHA:171445
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... ORPHA:521406
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Brain atrophy, Dystonia... ORPHA:391411
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Neurodegeneration, Cerebellar hypop... OMIM:214150
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Impai... OMIM:162400
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Poor head control, Small for gestational age, Ataxia, Failure to thrive ... ORPHA:59
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... OMIM:211530
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis OMIM:170400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... OMIM:610131
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... ORPHA:101075
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu... OMIM:616867
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, S... OMIM:601104
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, ... OMIM:617302
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, Abnorma... OMIM:272750
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predomi... OMIM:619028
Non-Specific Early-Onset Epileptic Encephalopathy
Poor head control, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, ... ORPHA:442835
Parkinsonism-Dystonia 2, Infantile-Onset
Poor head control, Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochoki... OMIM:618049
Rabies
Vocal cord paresis, Cerebral palsy, Paresthesia ORPHA:770
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Generalized muscle weakness, Fail... OMIM:614096
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Decreased motor nerve conduction velocity, Failure to thrive in infancy, External... OMIM:619026
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100993
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... ORPHA:268882
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Ophthalmoparesis, Progressive cerebellar ataxia, D... ORPHA:254881
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... OMIM:609033
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Dysmetria, Spas... ORPHA:313772
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, External ophthalmoplegia, Babinski sign, Limb ataxia, Ankle clonus, T... OMIM:615768
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Diaph... OMIM:606071
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Poor head control, Ataxia, Increased neuronal autofluorescent lipopigment, Tr... ORPHA:79263
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor, Abnormal myelination ORPHA:401835
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... ORPHA:216873
Typical Nemaline Myopathy
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... ORPHA:171436
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Optic atrophy, Defective DNA repair after ultraviolet radiation dama... OMIM:278800
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Optic atro... OMIM:616505
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals... ORPHA:297
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Inability to walk, Retractile testis, Glios... OMIM:617193
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... ORPHA:314632
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi... ORPHA:477774
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... OMIM:310440
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... OMIM:609560
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy OMIM:300983
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, A... OMIM:617710
Central Core Disease
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... ORPHA:597
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Gait disturbance, Gliosis OMIM:603896
Hemimegalencephaly
Gliosis, Abnormal neuron morphology ORPHA:99802
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Distal muscle w... OMIM:601152
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Ataxia, Facial palsy, Autophagic vacuoles, Proximal muscle weakness, Trem... OMIM:164310
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Gliosis, Cerebellar hypoplasia, ... ORPHA:3240
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... OMIM:615924
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,... ORPHA:478029
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, External ophthalmoplegia, Periodic paralysis OMIM:614198
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye... ORPHA:99949
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... OMIM:616816
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Generalized muscle weakness, Paroxysmal dyskinesia... OMIM:606703
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, In... ORPHA:502423
Leigh Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Decreased activity of mitochondrial respiratory chain, Chor... ORPHA:506
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... OMIM:613327
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy... OMIM:616053
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:613752
Dk1-Cdg
Progressive muscle weakness, Failure to thrive ORPHA:91131
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number ORPHA:352447
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Distal muscle weakness, Periphe... ORPHA:298
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... ORPHA:363710
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... ORPHA:99027
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff... OMIM:614946
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Lim... ORPHA:70594
Progressive Supranuclear Palsy
Tremor, Unsteady gait, Blepharospasm, Falls, Gliosis, Dystonia, Neuronal loss in central nervous ... ORPHA:683
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Supranucl... OMIM:164500
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Gait dist... ORPHA:845
Congenital Myopathy 24
Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, M... OMIM:617336
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... ORPHA:33445
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Tremor, Defective DNA repair after ultraviolet radiation damag... OMIM:278780
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... OMIM:617228
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Op... ORPHA:682
Leigh Syndrome
Ataxia, Gliosis, Dystonia OMIM:256000
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis ORPHA:449285
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ... ORPHA:99956
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... OMIM:616494
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Progressive cerebe... ORPHA:139485
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Dy... OMIM:210000
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction... OMIM:615368
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Distal muscle weakness, Multiple joint contractures, Vestibular areflexia, Babinski sign, Dysmetr... ORPHA:504476
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Tremor, Corpus callosum atrophy, Impaired distal vibration sensation, Ba... OMIM:616586
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Muscle weakness, Abnormal muscle fiber protein expression ORPHA:330054
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... ORPHA:79240
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Delayed CNS myelination, Clonus, Flexion contracture, Brain atrophy, Muscle fiber atrophy, Failur... OMIM:620240
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Spinocerebellar Ataxia Type 28
Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, O... ORPHA:101109
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, ... OMIM:203700
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Akinesia, Tremor, Chorea, Limb ataxia, Gait ataxia, Blepharospasm,... ORPHA:48818
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... ORPHA:240094
Corticobasal Syndrome
Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Gait disturbance, Limb dystonia ORPHA:454887
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadochokinesis, Distal amy... OMIM:617675
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Generalized muscle weakness, Hand tremor, Periodic paralysis OMIM:609153
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal mitochondrial shape ORPHA:485421
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Cerebellar atrophy, Distal ... OMIM:606002
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdiadochokine... OMIM:614487
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... ORPHA:171433
Variegate Porphyria
Paralysis OMIM:176200
Manganese Poisoning
Postural tremor, Akinesia, Abnormality of mitochondrial metabolism, Gait disturbance, Dystonia ORPHA:306682
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Slurred speech, Ophthalmo... ORPHA:1349
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Gliosis, Cerebral cortical... OMIM:248500
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Ophthalmop... ORPHA:1170
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Tremor, Decreased ... ORPHA:206443
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness OMIM:619133
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Gait disturbance, Shuffling gait, Gliosis, Dystonia, Loss of ambulation, Global b... OMIM:168601
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98853
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormality of the dorsal column of the spinal cord, Tremor, Corpus callosum atrophy, Babinski si... ORPHA:447753
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Gliosis, Difficulty walking, Dystonia, Decreased activity of mitochondrial complex I OMIM:618222
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Progressive muscle weakness, Increased ... ORPHA:264580
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Obesity, Central nervous system degeneration, Myopa... ORPHA:98907
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... ORPHA:119
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis OMIM:260540
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... ORPHA:324604
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dys... OMIM:612438
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph... OMIM:613561
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Tremor, Head titubation, S... OMIM:312080
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Poor head control, Increased variability in muscle fiber diameter, Myoclonus, Type 1 muscle fiber... OMIM:612949
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Muscle weakness, Weight loss OMIM:188580
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Truncal ataxia, Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Dystonia,... ORPHA:309854
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, External ophthalmoplegia, Optic atrophy, Cerebral atrophy, Choreoathetosis, Dysto... OMIM:619422
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia, Hypomimic face OMIM:128235
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Neurodegeneration, Gliosis, ... OMIM:618321
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Blepharospasm, Cho... OMIM:606159
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Fa... ORPHA:209335
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Proximal muscle weakness, Tremor, Gowers sign, Chor... OMIM:615673
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pontocerebellar atrophy, Astrocytosis ORPHA:258
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hype... OMIM:619737
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS... OMIM:607694
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Frontotemporal c... ORPHA:100070
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability... OMIM:616866
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... OMIM:619461
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, G... OMIM:610185
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Diffuse demyel... ORPHA:139396
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Poor head control, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordin... ORPHA:352649
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Progressive muscle weakness, Macroglossia, Global brain... ORPHA:488632
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... OMIM:137440
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia... ORPHA:329284
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, T... ORPHA:369840
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Flexion contracture, Muscle weakness ORPHA:87876
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... OMIM:616720
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... OMIM:255125
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Bulbar palsy, Tremor, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness OMIM:313200
Arthrogryposis Multiplex Congenita 6
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... OMIM:619334
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, ... ORPHA:365
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Mitochondrial hypertrophy OMIM:602541
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Decreased pyruvate carboxylase act... OMIM:229300
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Clonus, Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than ... OMIM:619424
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys... ORPHA:178148
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Distal sensory impairment, Gait disturbance, Dystonia OMIM:606693
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Gliosis, Truncal ataxia, Cerebral cortical atrophy OMIM:301072
Congenital Myasthenic Syndrome
Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent episodes of respi... ORPHA:98914
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia OMIM:600116
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Ragged-red muscle fibers, Hemiparesis, Myopathy, Left ventricular hypertrophy OMIM:540000
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Facial hypotonia, Parkinsonism, Tremor, Flexion contracture, Babinski sig... OMIM:300055
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination, Ab... ORPHA:255210
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness OMIM:106100
Myoclonic-Atonic Epilepsy
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus OMIM:616421
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... OMIM:620278
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:614381
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Ataxia, Dysmetria OMIM:617917
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Flexion contracture, Defective DNA repair after ultraviolet radiation damage, Bra... OMIM:278760
Hypermanganesemia With Dystonia 2
Limb dystonia, Cerebellar atrophy, Generalized dystonia, Limb joint contracture, Parkinsonism, Tr... OMIM:617013
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Ankle clo... OMIM:617435
Barth Syndrome
Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Hypertonia, Ataxia ORPHA:31
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... ORPHA:254892
Ataxia-Telangiectasia
Skeletal muscle atrophy, Abnormality of chromosome stability, Ataxia, Tremor, Spasticity, Failure... ORPHA:100
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Poor head control, Diffuse cerebral atrophy, Small for gestational age, Hypertonia, Myoclonus, Ab... ORPHA:289266
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Small thenar emin... OMIM:620080
Lissencephaly, X-Linked, 2
Gliosis, Decreased testicular size OMIM:300215
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Granulovacuolar degeneration, Falls, Gait imbalance, R... OMIM:609454
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia OMIM:617106
Cockayne Syndrome Type 3
Dense calcifications in the cerebellar dentate nucleus, Unsteady gait, Astrocytosis, Brain atroph... ORPHA:90324
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Cerebellar hypoplasia, Akinesia OMIM:225790
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Gliosis, Shuffling gait, Dystonia, Cerebral cortical atrophy ORPHA:411602
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, EMG: myopathic abnormalities, Ophthalmoplegia, Muscle weakness ORPHA:457365
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia OMIM:617162
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Cerebral atrophy, Opisthotonus, Gliosis, Limb dystonia OMIM:619847
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... ORPHA:247245
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a... ORPHA:306669
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Cerebellar hypoplasia ORPHA:261652
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram... OMIM:128100
Gitelman Syndrome
Ataxia, Paralysis, Rhabdomyolysis, Generalized muscle weakness, Paresthesia, Failure to thrive, M... OMIM:263800
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Muscle weakness ORPHA:820
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers,... OMIM:615084
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Neuronal loss in central nervous system, Gliosis OMIM:614498
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Abnormality of mitochondrial metabolism, Cerebral atr... ORPHA:314404
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Delayed CNS myelination, Spastic tetraparesis, Ophthalmoplegia, Ragged-red mus... OMIM:614924
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Failure to thrive ORPHA:477673
Fetal Akinesia Deformation Sequence
Cryptorchidism, Dandy-Walker malformation, Akinesia ORPHA:994
Glioblastoma
Muscle weakness, Paralysis ORPHA:360
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... ORPHA:1020
Pseudohypoaldosteronism Type 2
Muscle weakness, Periodic paralysis ORPHA:757
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Cerebra... OMIM:618877
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis, Decreased circulating carnitine concentration ORPHA:26791
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Athetosis, Gliosis, Dystonia, Li... ORPHA:404454
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Unsteady gait, Decreased activity of mitochondrial complex IV, Decr... ORPHA:17
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia ORPHA:240071
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Cerebral atrophy, Decreased activity of mitochondrial complex III, Gl... OMIM:124000
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spast... OMIM:616795
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti... ORPHA:228360
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... OMIM:105210
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... ORPHA:94080
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetraparesis, Brain atrop... OMIM:617186
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, Myo... ORPHA:812
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Muscle weakness, Paralysis OMIM:176000
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Paresthesia, Tremor by anatomical site ORPHA:97349
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Gliosis ORPHA:88619
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Decreased pyruvate c... OMIM:601992
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy... ORPHA:2388
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Poor head control, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, ... ORPHA:572798
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Failure to thrive, Facial palsy, Muscle weakness OMIM:606407
Perry Syndrome
Tremor, Short stepped shuffling gait, Akinesia, Dystonia OMIM:168605
Congenital Myopathy 9A
Cryptorchidism, Akinesia OMIM:618822
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Sneddon Syndrome
Tremor, Hemiplegia, Facial palsy, Impaired distal tactile sensation OMIM:182410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Ataxia, Proximal muscle weakness, Tremor, Gowers sign, Chorea... OMIM:615356
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Optic atrophy, Spasticity, Choreoathetosis, Dystonia, Joint contracture OMIM:617664
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Brain atrophy, Cerebral atrophy, Abnormal myelination ORPHA:85179
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Tremor, Rhabdomyolysis, Myopathy, Muscle weakness ORPHA:713
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Jaberi-Elahi Syndrome
Appendicular spasticity, Distal muscle weakness, Tremor, Optic atrophy, Cerebellar vermis atrophy... OMIM:617988
Multiple Acyl-Coa Dehydrogenase Deficiency
Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Gliosis OMIM:231680
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness OMIM:232800
Hyperkalemic Periodic Paralysis
Episodic flaccid weakness, Periodic hyperkalemic paralysis OMIM:170500
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore... OMIM:612164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy, Leukodystr... OMIM:616538
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Tremor, Babinski sign... ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:615595
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... ORPHA:171430
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Decreased activity of mitochondrial respiratory chain, Akinesia OMIM:619147
Neuromuscular Oculoauditory Syndrome
Poor head control, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hyp... OMIM:618733
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Small for gestational age, ... OMIM:615471
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Ophthalmoparesis, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Cockayne Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Action tremor, Inability to walk, Crypto... ORPHA:191
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Ataxia, Muscle weakness OMIM:530000
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
12Q14 Microdeletion Syndrome
Tremor, Skeletal muscle atrophy, Failure to thrive, Syringomyelia ORPHA:94063
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Decreased activity of mitochondrial compl... OMIM:220111
Melas
Progressive external ophthalmoplegia, Peripheral axonal neuropathy, Abnormal central motor functi... ORPHA:550
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Inhalational Botulism
Muscle weakness, Paralysis ORPHA:254504
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Cerebral cortical atrophy, Akinesia, Limb dystonia OMIM:616840
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Gliosis OMIM:261515
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Poor head control, Ataxia, Optic ... OMIM:252010
Kanzaki Disease
Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneration, Cerebral atrophy, Dist... OMIM:609242
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Hypoesthesia, Ragged-red ... OMIM:603041
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Abnormal cerebellum morphology, Cerebellar hypoplasi... ORPHA:86309
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... OMIM:146500
Glycogen Storage Disease Xv
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance OMIM:613507
Danon Disease
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... OMIM:300257
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness ORPHA:228302
Asparagine Synthetase Deficiency
Exaggerated startle response, Caudate atrophy, Optic nerve hypoplasia, Clonus, Tremor, Delayed my... OMIM:615574
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... ORPHA:99845
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired vibratory sensation, Decreased muscle mass, Peripheral axonal neuropathy, Generalized mu... ORPHA:1900
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Abnormal oligodendroglia morphology, ... ORPHA:217260
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Opt... OMIM:234200
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity... ORPHA:500144
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Abnormal skeletal muscle morphology, Weight loss ORPHA:142
Fumarase Deficiency
Mitochondrial swelling, Decreased fumarate hydratase activity, Cerebral atrophy OMIM:606812
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy, Dystonia OMIM:277410
Polymyositis
Abnormal muscle fiber morphology, Proximal muscle weakness, Weight loss ORPHA:732
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:607485
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Chorea, Dysmetria, Athetosis, Gliosis, Action tremor OMIM:615273
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Periodic hypokale... ORPHA:37553
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations,... OMIM:620327
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Glossopharyngeal Neuralgia
Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal g... ORPHA:221098
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Gliosis, Cerebral atrophy, Opisthotonus OMIM:252160
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Gliosis, Cerebellar hypoplasia, Neuronal loss in central nervous system... OMIM:300868
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... OMIM:607876
Acute Intermittent Porphyria
Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Distal muscle weakness, Tre... ORPHA:79276
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting OMIM:606408
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Cerebral atrophy, Opisthotonus OMIM:252150
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Overlap Myositis
Proximal muscle weakness in upper limbs, Proximal muscle weakness, Perifascicular muscle fiber at... ORPHA:206572
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Congenital Myopathy 12
Akinesia OMIM:612540
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... ORPHA:646
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting OMIM:611881
Alexander Disease
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Abnormal auto... ORPHA:58
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Cryptorchidism, Gait disturbance, Gliosis, Cerebral cortical atrophy ORPHA:268261
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Poor head control, Small for gestational age, Ataxia, ... OMIM:617799
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Rift Valley Fever
Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Muscle weakness ORPHA:319251
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Paresthesia, Failure to thrive, Muscle weakness ORPHA:358
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Delayed CNS myelination, Tremor, Babinski sign, Hypertonia, Brain atrophy, Spasticity, Failure to... OMIM:616539
Chediak-Higashi Syndrome
Foot dorsiflexor weakness, Ataxia, Tremor, Decreased nerve conduction velocity, Neurodegeneration... OMIM:214500
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Cachexia, Paralysis, Ophthalmoplegia, Spastic paraplegia, Limb ataxia, Hypertonia, O... ORPHA:2072
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Le... OMIM:615530
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus OMIM:608013
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Alternating Hemiplegia Of Childhood
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... ORPHA:2131
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Failure to thrive, Muscle weakness, Paralysis ORPHA:18
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Tremor, Rhabdomyolysis, Optic atrophy, Dystonia, Muscle weakness OMIM:610505
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Cryptorchidism, Gliosis, Dystonia ORPHA:506358
Arthrogryposis Multiplex Congenita 5
Dystonia, Akinesia, Hand tremor OMIM:618947
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Poor head control, Diffuse cerebral atrophy, Tremor, Delayed myelination, Cho... ORPHA:1934
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination, Camptodactyly OMIM:617333
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism OMIM:617660
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity OMIM:150800
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Flexion contracture, Optic atrophy, Abnormal pyramidal sign, Central ... ORPHA:581
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Gliosis OMIM:615873
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Abnormality of extrapyramidal motor function, Decreased methylmalonyl-CoA mutase activity... OMIM:277400
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Gliosis OMIM:617403
Methylmalonic Aciduria, Cbla Type
Tremor, Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251100
Diets-Jongmans Syndrome
Cryptorchidism, Gliosis OMIM:618846
Monosomy 18Q
Poor coordination, Choreoathetosis, Abnormal myelination, Failure to thrive, Slender build ORPHA:1600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy OMIM:613154
Tsh-Secreting Pituitary Adenoma
Tremor, Internal ophthalmoplegia, Weight loss, Oculomotor nerve palsy, Periodic hypokalemic paresis ORPHA:91347
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Unilateral vocal cord paralysis, Cerebral atrophy, Spasticity, Spina bifida o... OMIM:301030
Tyrosinemia, Type I
Failure to thrive, Periodic paralysis OMIM:276700
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Optic atrophy, Joint cont... ORPHA:324540
Schinzel-Giedion Syndrome
Aganglionic megacolon, Failure to thrive in infancy, Vocal cord paralysis, Macroglossia, Hyperton... ORPHA:798
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Degcags Syndrome
Small for gestational age, Vocal cord paralysis, Abnormal myelination, Diaphragmatic eventration,... OMIM:619488
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Esophageal Atresia
Vocal cord paresis, Hypertonia, Small for gestational age, Failure to thrive in infancy ORPHA:1199
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Codas Syndrome
Vocal cord paresis OMIM:600373
Williams-Beuren Syndrome
Incoordination, Failure to thrive in infancy, Poor coordination, Vocal cord paralysis, Flexion co... OMIM:194050
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Tendon rupture, Muscle weakness, Decreased body weight OMIM:182250
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Afg3l2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Afg3l2.

No publications found that use IMPC mice or data for Afg3l2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Afg3l2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Afg3l2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Afg3l2tm84232(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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