banner
Genes Phenotypes Help, News, Blog

Gene: Stmn1 MGI:96739

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
stathmin 1
Synonyms:
Lag,  pig,  op18,  p18,  PP18,  prosolin,  19K,  PP17,  p19,  PR22,  metablastin,  SMN,  Lap18,  leukemia associated phosphoprotein p18,  oncoprotein18

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 Stmn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Stmn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... OMIM:214400
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... OMIM:620378
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Proximal ... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... OMIM:601098
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... OMIM:605253
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Decreased motor nerve conduction velocity, Froment sign, Segmental peripher... OMIM:162500
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... OMIM:608323
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Small hypot... OMIM:609311
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Arrhythmia, Pe... ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination, Thenar muscle... OMIM:606483
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph... OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Decreased motor ... OMIM:614895
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Foot dorsiflexor weakn... OMIM:614436
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cardiomyopathy, Distal a... OMIM:610100
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... OMIM:608340
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Distal amyotr... OMIM:607677
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Foot dorsiflexor weakn... OMIM:607731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Optic atrophy, Abnormal myelination, Abnormality of the Achilles te... ORPHA:431329
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Axonal regeneration, Distal lower lim... OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Fatty replacement of skeletal muscle, Decreased compound muscle action potential amplitude, Dista... OMIM:618279
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, D... ORPHA:99939
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera... ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Proximal amyotrophy,... OMIM:604484
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Dec... OMIM:605285
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased mo... OMIM:613287
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Distal amyotrophy, Demyelinating sensory neuropathy, Onion bulb f... OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Decreased m... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal lo... OMIM:302800
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Klhl9-Related Early-Onset Distal Myopathy
Peripheral axonal neuropathy, Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormali... ORPHA:399081
Myopathy, Myofibrillar, 5
Abnormal peripheral nervous system morphology, Myofibrillar myopathy, Muscle fiber cytoplasmatic ... OMIM:609524
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy... ORPHA:603
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Decrea... ORPHA:868
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased d... OMIM:607684
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Upper li... ORPHA:139536
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Decreased motor ... OMIM:618184
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Foot dorsiflexor weakness, Flexion con... OMIM:619216
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Upp... OMIM:606595
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Lower limb muscle weakness, Decreased nerve conduction velocity, Upper l... OMIM:615284
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Plantar flexion contr... OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Foot dorsiflexor weakness, Peripheral demyelination, Axonal degeneration/regen... OMIM:607736
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... OMIM:619112
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Acute rhabdomyolysis, ... OMIM:604168
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal amyotrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyel... OMIM:311070
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Severe demyelination of the white matter, Corpus callosum atrophy, Optic atro... OMIM:236792
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Skele... ORPHA:101082
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle weakness, The... OMIM:614751
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Limb ... OMIM:600361
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Foot dorsiflexor wea... OMIM:613641
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... OMIM:619519
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cereb... ORPHA:497764
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Axonal degeneration, Lower limb muscle weakness, Foot dorsiflexor wea... OMIM:616155
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Distal lower limb muscle weakness, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neurop... ORPHA:101077
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Myopathy, Arrhythmia ORPHA:104
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... ORPHA:65684
Developmental And Epileptic Encephalopathy 71
CNS demyelination, EEG with burst suppression, Gliosis OMIM:618328
Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Ne... OMIM:245200
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Quadriceps mu... ORPHA:99948
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve... OMIM:604320
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W... OMIM:615575
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Axonal loss, Peripheral demyelination OMIM:616684
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... OMIM:607678
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination OMIM:249900
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... OMIM:302801
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Cerebral atrophy, EEG abnormality, Axonal loss, Gliosis, Peripheral demyelination OMIM:221770
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, Temporal ... OMIM:167320
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Optic... OMIM:615035
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... OMIM:607250
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:614959
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Proximal musc... OMIM:616687
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Distal lower ... OMIM:618912
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Axonal degeneration, Distal amyotrophy, Weakness of facial musculature, Foot... OMIM:618811
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... ORPHA:99802
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... OMIM:301830
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, C... OMIM:617672
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... OMIM:618323
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Abnor... ORPHA:85446
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... OMIM:162100
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Axonal loss, Gliosis OMIM:300857
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Facial diplegia, Distal amyotrophy, Distal arthrogryposis, Peripheral hypomy... OMIM:616287
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Lower limb muscle weakness, Abnormality of peripheral nerve cond... ORPHA:101001
Adducted Thumbs Syndrome
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita, Cerebral dysmyelination OMIM:201550
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Flexion contracture, Optic atrophy, Myopathy, CNS demyelination, Hypertrophic... OMIM:618237
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Acute demyelinating polyneuro... ORPHA:101081
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Distal amyotrophy,... OMIM:618400
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Corpus callosum atrophy, Gliosis, Leukodystrophy, Autonomic b... OMIM:169500
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab... OMIM:614399
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Hypertrophi... OMIM:612954
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... ORPHA:100998
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Card... OMIM:612999
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotroph... OMIM:616924
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Axonal ... OMIM:118300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Hypertrophic cardiomyopathy, Optic atrophy, Brain atrophy OMIM:618236
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity ORPHA:2386
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes DECIPHER:29
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Corpus callosum atrophy, Gliosis, CNS demyelination, Neuronal loss in central nervous system, Glo... OMIM:221820
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Atrophy/Degeneration affecting the brainstem, Abnormal nerve con... OMIM:619862
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Achilles tendon contracture, Proximal... ORPHA:2596
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Abnormal nerve conduction velocity ORPHA:101075
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Scapu... ORPHA:435387
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Axonal loss, Distal upper limb amyotrophy, Oni... OMIM:614455
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... OMIM:256600
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, CNS hypomye... OMIM:616239
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Myopathy, ... OMIM:603034
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... OMIM:609284
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, EEG with burst suppression, Optic atrophy, Gliosis, Bradycardia, Abnorma... OMIM:614498
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Diffuse cerebral atrophy, Decreased compound muscle ac... OMIM:619279
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture, Peripheral demyelination OMIM:616733
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder... OMIM:603511
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... ORPHA:171442
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat... OMIM:208920
Huntington Disease
Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis OMIM:143100
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Cardiac conduction abnormality, Elbow flexion contractu... ORPHA:97244
Immunodeficiency 83, Susceptibility To Viral Infections
EEG abnormality, Gliosis OMIM:613002
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... ORPHA:2926
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Lower limb muscle weakness, Th... ORPHA:352675
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fiber... ORPHA:254886
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Flexion contracture of finger, Decreased sensory nerve conduction veloci... OMIM:609033
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Thenar muscle atrophy OMIM:620111
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Tangier Disease
Peripheral axonal neuropathy, Myocardial infarction, Facial diplegia, Distal amyotrophy, Left ven... OMIM:205400
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Gliosis, Arthrogryposis multiplex ... OMIM:615095
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Limb-girdle muscle weakness, Optic atrophy, Myopathy, Cardio... ORPHA:1215
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy ORPHA:1188
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Brain atrophy, Leukodystrophy, Periph... OMIM:614877
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Distal amyotrophy, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... ORPHA:101085
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Axonal degeneration, Neurodegeneration, Abnormal autonomic... ORPHA:478029
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies OMIM:615348
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Cer... OMIM:619851
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Corticospinal tract atrophy OMIM:551500
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Isolated Glycerol Kinase Deficiency
Myopathy, EEG abnormality ORPHA:408
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, EEG with burst suppression, Gliosis, Diffuse d... ORPHA:168486
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:604218
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cardiac arrest, Basal ganglia gliosis, Cerebral atrophy, Myopathy, Gliosis, B... OMIM:604377
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Optic atrophy, Gliosis OMIM:603896
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Flexion contracture, Elbow fle... OMIM:214150
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Onion bulb formation, Lower limb muscle weakness, CNS ... OMIM:610532
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... ORPHA:272
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers, Leukodystrophy OMIM:618242
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Optic atrophy, Cardiomyopathy ORPHA:26792
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Leukodystrophy OMIM:614932
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Optic atrophy, Increased variability in muscle fiber diameter, Abnormal auditory evoked... OMIM:125250
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Torticollis, Lower limb hypertonia, Gliosis, Cerebral cortical atrophy OMIM:618369
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Abnormal peripheral action potential amplitude, Abnormality of the se... ORPHA:90117
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Cerebral dysmyelination,... OMIM:609136
Nemaline Myopathy 7
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... OMIM:610687
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:183050
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Diffuse cerebellar atrophy, Facial ... ORPHA:101111
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of large per... OMIM:162400
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Third degree atrioventricular ... OMIM:601419
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Hypsarrhythmia, Gliosis, Neuronal loss in central nervous system ORPHA:204
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu... ORPHA:466768
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Abnormal sensory nerve conduction velocity, Camptodactyly, Abnormal peripher... ORPHA:88628
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Motor axonal neuropathy, Cerebral cortical atrophy... ORPHA:48431
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Gliosis OMIM:225753
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Myopathy, Increased va... ORPHA:397744
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... ORPHA:3115
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Upper limb amyotrophy, Distal lower limb muscle weakne... ORPHA:99950
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, At... ORPHA:98755
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis OMIM:615119
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:101078
Carcinoid Syndrome
Tricuspid regurgitation, Right ventricular failure, Heart murmur, Pulmonary carcinoid tumor, Myop... ORPHA:100093
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Distal amyotrophy, Sensory axonal neuropathy, Abnormal... ORPHA:139578
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Spinocerebellar Ataxia With Epilepsy
Myopathy, Optic atrophy, Sensory axonal neuropathy, EEG with occipital epileptiform discharges ORPHA:254881
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrop... OMIM:612674
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Cednik Syndrome
Congestive heart failure, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Flexion contracture, EEG with focal sharp waves, Cerebral atrophy, Hypsarrhyt... ORPHA:79243
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
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
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Gliosis... ORPHA:275872
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia ORPHA:157973
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, ... OMIM:271245
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Delayed myelinat... ORPHA:319514
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Upper limb muscle weakness, EEG abnormality, CNS ... ORPHA:206448
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Cardiomyopathy OMIM:610717
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Congestive heart failure... ORPHA:206569
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Optic at... OMIM:608804
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Optic disc pallor, Gliosis, Limb hypertonia OMIM:612936
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexion contracture, Calf mu... OMIM:618733
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Arterial rupture, Myopathy ORPHA:300179
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia, Camptodactyly of finger ORPHA:2928
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98853
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ... OMIM:270685
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... ORPHA:171433
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Neuronal loss in central nervous system, Gliosis OMIM:607136
Central Core Disease
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... ORPHA:597
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Spinocerebellar Ataxia, Autosomal Recessive 2
Gliosis, Cerebellar vermis atrophy OMIM:213200
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tibialis muscle weakness, ... ORPHA:320375
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98863
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Decreased number of large per... OMIM:270550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Astro... ORPHA:100070
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... OMIM:201300
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, EEG abnormality, Gliosis, Atrophy... OMIM:614946
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Degeneration of ... OMIM:604360
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Dec... ORPHA:909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Congestive heart failure, Cr... ORPHA:52430
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:250100
Leigh Syndrome
CNS demyelination, Optic atrophy, Gliosis OMIM:256000
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Gliosis OMIM:606688
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Abnormal periph... ORPHA:168563
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Facial diplegia, Generalized am... OMIM:609560
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co... OMIM:256840
Leber Optic Atrophy
Myopathy, Arrhythmia, Optic atrophy, Optic neuropathy OMIM:535000
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Distal amyotrophy, Sensory ... OMIM:256850
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar gliosis, Flexion contracture, Optic ... ORPHA:35069
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154275
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques OMIM:608907
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
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Senile plaques DECIPHER:48
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Tibia... ORPHA:101076
Multifocal Motor Neuropathy
Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block ORPHA:641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon con... OMIM:606612
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s... OMIM:615368
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Lower limb muscle weakness, Distal amyotrophy, Increased intramyocellular lip... OMIM:614487
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Torticollis, Cerebral atrophy, Distal amyotrophy, Peripheral demyelination ORPHA:397946
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Generalized amyot... ORPHA:352447
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Huntington Disease-Like 1
Cerebellar atrophy, EEG abnormality, Gliosis, Cerebral cortical atrophy ORPHA:157941
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154276
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased muscle mass, F... ORPHA:298
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Corpus callosum atrophy, Decreased nerve conduction velocity, Cerebral atrophy... ORPHA:565624
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy, Cardiomyopathy OMIM:232400
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hypertension, Myopathy, Muscular dystrophy, Lower limb muscle weakness OMIM:615980
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy ORPHA:2349
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Lower limb hypertonia, Pontocerebella... ORPHA:171629
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Gliosis, Abnormal myelination, Cerebral hypomyelin... ORPHA:280210
Pontocerebellar Hypoplasia, Type 2A
Congenital contracture, Gliosis, Optic atrophy, Cerebral cortical atrophy OMIM:277470
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:607485
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Intrinsic hand muscle atrophy, Distal amyotrophy, Wris... OMIM:616688
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Cerebral atrophy, Axonal loss, Gliosis, Peripheral demyelination OMIM:252160
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Cerebral atrophy, Myopathy, Hypertension, Neuronal loss in central nervous system ORPHA:363400
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Corpus callosum atrophy, Optic atr... ORPHA:98673
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Senile plaques OMIM:605055
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:159550
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness OMIM:615156
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Peripheral dysmyelination, Neuronal loss in ce... OMIM:260565
De Sanctis-Cacchione Syndrome
Axonal degeneration, Optic atrophy, Cerebral atrophy, Telangiectasia, Leukodystrophy, Global brai... OMIM:278800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Optic atrophy, CNS hypomye... OMIM:617193
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... OMIM:212350
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Syncope OMIM:603472
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy ORPHA:93476
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal amyotrophy, L... OMIM:601152
Muscle-Eye-Brain Disease
Myopathy, Optic atrophy, EEG abnormality ORPHA:588
Congenital Myopathy 16
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature ORPHA:254875
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Facial myokymia OMIM:608703
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Multiple Sulfatase Deficiency
Cerebellar atrophy, CNS demyelination, Peripheral demyelination, Cerebral atrophy OMIM:272200
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Spasticity of facial muscles, Cerebral cort... OMIM:606353
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion ... OMIM:248800
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Gliosis, Peripheral demyelination, Cerebral atrophy OMIM:252150
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, ST segment elevation, Ventricular tachy... ORPHA:263297
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di... OMIM:620080
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Joint contracture, Optic atrophy OMIM:615419
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Cerebral atrophy, Hypsarrhythmia, Neurodegeneration, Gliosis... OMIM:618321
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Optic Atrophy 11
Delayed CNS myelination, Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facia... OMIM:617302
Mcleod Syndrome
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Motor axon... OMIM:300842
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy OMIM:616549
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis OMIM:613724
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... ORPHA:254930
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Optic atrophy, Myopathy, Muscular dystrophy, Aplasia/Hypoplasia involvin... ORPHA:559
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... ORPHA:485421
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Cardiomyopathy, Bradycardia, Ar... OMIM:609286
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atroph... OMIM:258450
Machado-Joseph Disease
Cerebellar atrophy, Distal amyotrophy, Gliosis, Abnormal autonomic nervous system physiology OMIM:109150
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Flexion co... OMIM:618186
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Myopathy, Mitral regurgitation, Cardiomyopathy, Reduced muscle carnitin... OMIM:212140
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy OMIM:614116
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Myocardial infarction ORPHA:457240
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:618356
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, R... OMIM:601104
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Myopathy, Cardiomyopathy, Cerebral cortical atrophy OMIM:614922
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Increased variability in muscle fiber diameter, Decrea... OMIM:619026
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy, EEG abnormality ORPHA:85329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Gliosis ORPHA:3240
Hereditary Sensory And Autonomic Neuropathy Type 1
Distal amyotrophy, Motor axonal neuropathy, Abnormality of the autonomic nervous system, Foot dor... ORPHA:36386
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Atrophy/Degenera... OMIM:616192
Leigh Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Congestive heart failur... ORPHA:506
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Demyelinating periph... ORPHA:90658
Kanzaki Disease
Peripheral axonal neuropathy, Telangiectasia of the oral mucosa, Axonal degeneration, Lip telangi... OMIM:609242
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Cardiomyopat... ORPHA:26791
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1933
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet... ORPHA:169189
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Severe demyelination of the white matter, Atrophy of the spinal cord, Dilated... ORPHA:79282
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Peripheral axonal neuropathy, Scapular winging, Centrally nucleated skel... OMIM:607459
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyop... OMIM:300257
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Decreased size of ... ORPHA:98915
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Cerebral cortical atrophy OMIM:238970
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Macroglossia, Gliosis, Cerebral... OMIM:248500
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Severe demyelination of the white matter, Optic atroph... ORPHA:1187
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Cerebral atrophy ORPHA:369847
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Peripheral axonal neuropathy, Atrial fibrillation, Facial palsy, Quadriceps m... ORPHA:254892
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... ORPHA:682
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Arrhythmia, Distal arthrogryposis, Myopathy ORPHA:42
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Decreased nerve conduc... ORPHA:477817
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy ORPHA:683
Melas
Wolff-Parkinson-White syndrome, Peripheral axonal neuropathy, Cardiac conduction abnormality, Rag... ORPHA:550
Intellectual Developmental Disorder, X-Linked 12
Gliosis OMIM:300957
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Optic disc pallor, Facial hypotonia, Limb joint contracture, Delayed myelinat... ORPHA:404454
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Abnormality of the musculature of the lower limbs, Delayed peripheral myelination ORPHA:464282
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Axonal loss, Abnormal autono... OMIM:614575
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Brain atrophy OMIM:620326
Sialidosis Type 1
Decreased nerve conduction velocity, Skeletal muscle atrophy, EEG abnormality ORPHA:812
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Skeletal muscle atrophy, Optic atro... OMIM:164400
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion contracture, Abno... ORPHA:367
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Decreased muscle mass, Cerebral dysmyelination, Decreased nerve conduction ve... OMIM:261515
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Increased intramyocellular lipid... OMIM:255125
Tay-Sachs Disease
Cerebellar atrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Quadriceps muscle atroph... ORPHA:845
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, My... ORPHA:99901
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Granulovacuolar degeneration, Gliosis, Retrocollis, Neuronal loss in cen... OMIM:609454
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen... OMIM:229300
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Warburg Micro Syndrome 4
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion con... OMIM:615663
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity ORPHA:93474
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Peripheral hypomyelination, Lower limb muscle w... ORPHA:199343
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... OMIM:261740
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Abnormal CNS myelination, Decreased nerve conduction velocity, Optic atrophy OMIM:610651
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Segmental peripheral demyelination/remyelination, Dilated cardiom... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, EEG with burst suppression, Myopathy, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy ORPHA:369840
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Decreased motor nerve... ORPHA:99949
Hereditary Late-Onset Parkinson Disease
Gliosis, Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfunction, Hypomim... ORPHA:411602
Neutral Lipid Storage Disease With Ichthyosis
Central nervous system degeneration, Myopathy, Cardiomyopathy, Shoulder girdle muscle weakness, I... ORPHA:98907
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Congestive heart failure, Delayed myelination, Neurofibroma, M... OMIM:619475
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Gliosis, Cerebral atrophy OMIM:619847
Scleromyxedema
Transient ischemic attack, Raynaud phenomenon, Abnormal skeletal muscle morphology, Myopathy, Abn... ORPHA:167635
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Gliosis ORPHA:88619
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... OMIM:615418
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Spinocerebellar Ataxia 10
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:603516
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia OMIM:609015
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Hyperten... ORPHA:1358
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Arrhythmia, Rhabdomyolysis, Cardiomyopathy ORPHA:228305
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Abnormal autonomic nervous system physiology, Cerebral cortical atrophy OMIM:616840
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Cerebellar atrophy, Peripheral axonal neuropathy, Decreased motor ne... OMIM:606002
Friedreich Ataxia
Hand muscle atrophy, Decreased motor nerve conduction velocity, Optic atrophy, Cardiomyopathy, Se... ORPHA:95
Axial Osteomalacia
Myopathy OMIM:109130
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Astrocytoma, Abnormal cardiovascular system physiology, Myopathy, ... ORPHA:79086
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309256
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Foot join... ORPHA:456312
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Skeletal muscle atrophy, Flexion contracture, Su... ORPHA:90324
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309263
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Flexion contracture, Lower l... OMIM:301072
Triosephosphate Isomerase Deficiency
Optic disc pallor, Skeletal muscle atrophy, Congestive heart failure, Cerebral atrophy, Myopathy OMIM:615512
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Cockayne Syndrome
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Skeletal muscle atrophy, Cer... ORPHA:191
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Delayed CNS myelination, Rhabdomyolysis, Ragged-red muscle fibers, Cerebral a... OMIM:124000
Immunodeficiency 10
Myopathy OMIM:612783
Parkinson Disease 1, Autosomal Dominant
Gliosis, Global brain atrophy OMIM:168601
Hurler Syndrome
Angina pectoris, Camptodactyly of finger, Macroglossia, Hypertension, Cardiomyopathy, Abnormal ne... ORPHA:93473
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Cockayne Syndrome A
Cerebellar atrophy, Hip contracture, Abnormal peripheral myelination, Abnormal auditory evoked po... OMIM:216400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis ORPHA:713
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Optic atrophy, Cerebral atrophy, Neurodegeneration OMIM:610217
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Delayed myelination, Flexion contracture, Elbow flexion contracture, Knee flexio... OMIM:300868
Papillorenal Syndrome
Hypertension, Optic disc coloboma, Gliosis OMIM:120330
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Spontaneous, recurrent epistaxis, Neurodegeneration, Foot do... OMIM:214500
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Cerebral cortical atrophy, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertension, Mitral regurgitation, Gliosis, Left ventricular hypertrophy, CNS demyelination, Hyp... OMIM:220111
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunction, Optic ... ORPHA:309271
Congenital Disorder Of Deglycosylation 1
Delayed CNS myelination, Facial hypotonia, Delayed myelination, Intrinsic hand muscle atrophy, Gl... OMIM:615273
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa... ORPHA:746
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Distal lower limb muscle weakness OMIM:613640
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Weakness of facial musculature, Flexion contracture, Myopathy, Cardiomyopathy OMIM:201470
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Cerebral cortic... ORPHA:886
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Kleefstra Syndrome Due To A Point Mutation
Gliosis ORPHA:261652
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Cystinosis
Myopathy, Portal hypertension ORPHA:213
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... ORPHA:280365
Wolfram Syndrome
Gastrointestinal hemorrhage, Optic atrophy, Myopathy, Cardiomyopathy, Abnormal autonomic nervous ... ORPHA:3463
Cockayne Syndrome B
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... OMIM:133540
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Localized Scleroderma
Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy, Arrhythmia ORPHA:90289
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Optic atrophy, Hypertension, Abnorma... ORPHA:90321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Adrenomyodystrophy
Myopathy ORPHA:977
Alzheimer Disease 3
Neurofibrillary tangles, Cerebral cortical atrophy OMIM:607822
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Gerstmann-Straussler Disease
Neurofibrillary tangles, Cerebellar atrophy, Lower limb muscle weakness OMIM:137440
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Stormorken Syndrome
Myopathy, Epistaxis, Subarachnoid hemorrhage OMIM:185070
Chylomicron Retention Disease
Myopathy, EMG: myopathic abnormalities ORPHA:71
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Weakness of facial musculature, Acute de... ORPHA:79138
Immunodeficiency 9
Myopathy OMIM:612782
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Alzheimer Disease 4
Neurofibrillary tangles, Senile plaques OMIM:606889
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Xanthinuria, Type I
Myopathy OMIM:278300
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... ORPHA:97355
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, Gliosis,... OMIM:203700
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Optic disc pallor, Cerebellar atrophy, Facial hypotonia, Macroglossia, Myop... ORPHA:309282
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Hypertension, Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Hypert... OMIM:164310
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Cardiomyopa... ORPHA:565612
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal muscle fi... ORPHA:1320
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... OMIM:256800
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Elbow flexion contracture, Knee flexion contracture, EEG abnormality, EMG: myopa... ORPHA:371364
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Peripheral axonal neuropathy, Decreased muscle mass, Congestive heart failure, Elbow flexion cont... ORPHA:1900
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Myopathy, Pheochromocytoma, Ganglioneuroma OMIM:162300
Xp21 Deletion Syndrome
Calf muscle hypertrophy, Myopathy, Decreased muscle mass ORPHA:261476
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Gliosis OMIM:618222
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Optic atrophy, Arrhythmia, EMG: myopat... ORPHA:480864
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Myopathy, Hypertension, Congestive heart failure ORPHA:85450
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Arrhythmia, Rhabdomyolysis, Cardiomyopathy ORPHA:157
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Increased variability in muscle fiber diameter, Increased muscle glycogen cont... ORPHA:502423
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Caudate atr... ORPHA:2388
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy ORPHA:109
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Optic atrophy, Myopathy, Neurodegeneration, Cerebral degeneration, Global ... OMIM:234200
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber a... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber a... ORPHA:98914
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Joint contracture, Gliosis, Camptodactyly, H... OMIM:617403
Musculocontractural Ehlers-Danlos Syndrome
Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy ORPHA:2953
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Helsmoortel-Van Der Aa Syndrome
Mitral regurgitation, Gliosis, Facial palsy, Heart murmur OMIM:615873
Chédiak-Higashi Syndrome
Cerebellar atrophy, Epistaxis, Decreased nerve conduction velocity, Atrophy of the spinal cord, B... ORPHA:167
Stromme Syndrome
Myopathy, Optic nerve hypoplasia OMIM:243605
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Hypertension, Orthostatic hypotensi... OMIM:223900
Congenital Myopathy 9A
EMG: myopathic abnormalities OMIM:618822
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial palsy, EEG with burst ... ORPHA:79139
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities ORPHA:684
Mucopolysaccharidosis Type 2
Papilledema, Decreased nerve conduction velocity, Optic atrophy, Macroglossia, Contractures of th... ORPHA:580
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Neuronal loss in central nervous system OMIM:257220
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... ORPHA:800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, CNS hypomyelination, Gliosis, Aortic valve stenosis, Cerebral cortical atrophy ORPHA:268261
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy, Limb muscle w... OMIM:277900
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber lysosomes, Fle... ORPHA:365
Hereditary Xanthinuria
Myopathy ORPHA:3467
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Myopathy OMIM:618975
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Myopathy, Mitral regurgitation, Type 1 muscle f... OMIM:614557
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia... ORPHA:199351
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Delayed myelination, Distal arthrogryposis, Gliosis ORPHA:506358
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hype... OMIM:242840
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Bohring-Opitz Syndrome
Flexion contracture, Delayed peripheral myelination, Camptodactyly OMIM:605039
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Congestive heart failure ORPHA:14
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Myopathy, Mitral regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:612541
Diets-Jongmans Syndrome
Gliosis, Congenital diaphragmatic hernia OMIM:618846
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Myopathy, An... ORPHA:536545
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
1P36 Deletion Syndrome
Camptodactyly of finger, Dilated cardiomyopathy, Optic atrophy, Telangiectasia, Myopathy, EEG abn... ORPHA:1606
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy OMIM:256810
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Inflamm... ORPHA:221
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
Niemann-Pick Disease, Type C2
Neurofibrillary tangles OMIM:607625
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy OMIM:307030
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy, Cerebral atrophy OMIM:219800
Williams Syndrome
Sudden cardiac death, Myocardial infarction, Atrophy/Degeneration involving the corticospinal tra... ORPHA:904
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles OMIM:117300
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnormality of pe... OMIM:601992
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:285
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Flexion contracture, Myopathy ORPHA:3042
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Syncope, Abnormality of peripheral nerve conduction,... ORPHA:642
Proteus Syndrome
Myofibrillar myopathy, Decreased muscle mass, Sudden cardiac death, Pulmonary embolism ORPHA:744

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 Stmn1

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 Stmn1.

No publications found that use IMPC mice or data for Stmn1.

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
Stmn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stmn1tm234548(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter