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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination/remyelination, Segmental peripheral demyelination, Onion bulb ... OMIM:606483
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Lower limb muscle weakness, Demyelinating senso... ORPHA:208981
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelina... OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal amyotrophy, Peripheral axonal neuropathy... OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Decreased number of... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Peripheral demyelination, Motor conduction block, Abnormal nerve conduction... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:118220
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Peripheral demyelination, Hand muscle atrophy, Skeletal muscle atrophy, Decreased ner... ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Axonal degeneration/re... OMIM:607677
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Distal amyotrophy, Decreased number of large peripheral myelinated nerve fi... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal amyotrophy, Foot dorsiflexor weakness, Decreased number of peripheral... OMIM:607731
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Decreased motor nerve conduction velocity, Peri... OMIM:609311
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Proximal amyotrophy, Degeneration of anterior horn cells, Decreased number of peripheral... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal amyotrophy, Axonal degeneration/regeneration, P... OMIM:614436
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Distal amyotrophy, Peripheral ax... OMIM:610100
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor ne... OMIM:182815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude, Distal lower limb amyotrophy, Distal lower ... OMIM:619112
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Abnormal myelination, Distal lower limb amyotrophy, A... ORPHA:431329
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Intrinsic hand muscle atrophy, Distal lower lim... ORPHA:90103
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle weakness, Thenar muscle atrophy, Distal l... ORPHA:139536
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:609260
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination DECIPHER:59
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Decrea... ORPHA:868
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Demyelinating sensory neuropathy, Lower limb muscle weakness, Abnor... ORPHA:99939
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Abnor... OMIM:609524
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399081
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Degeneration of anterior horn ce... OMIM:602433
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Decreased motor nerve conduction velocity, Axonal regeneration, Decre... OMIM:605285
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Abnormal sensory nerve conduction ve... ORPHA:276435
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, Decreased nerve conduction velocit... ORPHA:280234
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Arrhythmia, Flexion contracture, Lower limb muscle we... OMIM:300695
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Skeletal muscle atrophy,... OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Flexion contracture, Decreased number of peripheral my... OMIM:607706
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Optic atrophy, Peripheral demyelination OMIM:165200
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Upper li... OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Hand muscle weakness, Achilles tendon contracture, Dec... OMIM:302800
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Upper li... OMIM:302801
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal amyotrophy... OMIM:601382
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Weakness of the intrinsic han... OMIM:615575
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy ORPHA:98916
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Distal amyotrophy, Decrea... OMIM:601455
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Axonal degeneration/regeneration, Foot dorsiflexor weakness, Peripheral demyel... OMIM:607736
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Proximal muscle weakness in ... OMIM:619216
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Spinocerebellar Ataxia Type 43
Distal lower limb muscle weakness, Distal amyotrophy, Peripheral axonal neuropathy, Cerebellar ve... ORPHA:497764
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Proximal muscle weakness in lower limbs, Decreased motor nerve conduction velocity, Distal lower ... OMIM:618912
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... OMIM:601170
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Limb muscle weakness OMIM:614228
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Axonal loss, Demyelinating peripheral neuropath... OMIM:612954
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... OMIM:252320
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Distal amyotrophy, Segmental peripheral demyelination/remyelination, Optic ... OMIM:311070
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Foot dorsiflexor weakness OMIM:616155
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Distal upper limb amyotrophy, Degeneration of anterio... ORPHA:65684
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral hypomyelination, ... OMIM:604168
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, Skeletal mu... ORPHA:101082
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal amyotrophy, Peripheral axonal neuropathy, Limb ... OMIM:600361
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Skeletal muscle atrophy, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal ... OMIM:615490
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Delayed myelination, Gliosis, Neuronal loss in central nervous system OMIM:614959
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Peripheral demyelination, Myopathy, Optic atrophy, Hypertrophic cardiomyopathy OMIM:618237
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Hand muscle weakness, Intrinsic hand muscle atrophy, D... ORPHA:101077
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Abnormal motor nerve conduction velocity, Hand muscle atrophy, Distal amyot... ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Krabbe Disease
Decreased nerve conduction velocity, Neurodegeneration, EEG abnormality, Optic atrophy, Periphera... OMIM:245200
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Neurodegeneration, Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, ... OMIM:617672
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Motor axonal neuropathy, Joint contractures involving the joints of the feet, Cerebral atrophy, S... ORPHA:457205
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Brain atrophy, Limb muscle weakness, Decreased nerve conduction velocity OMIM:615284
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Orthostatic hypotension, Decreased number of... OMIM:608720
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, M... OMIM:158810
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Axonal loss, Cerebral atrophy, EEG abnormality, Peripheral demyelination, Caudate atrophy OMIM:221770
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Axonal degeneration, Decreased nerve conduction... OMIM:604320
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Demyelina... ORPHA:101081
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Distal amyotrophy, Joint contracture of the hand, Peripheral demyelination, Optic atrophy, Distal... OMIM:258650
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Gliosis, Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of... OMIM:118301
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Distal amyotrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal lower limb amyotrophy, Distal upper limb amyotrophy ORPHA:101075
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Corpus callosum atrophy, Cardiomyopathy OMIM:225740
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Axonal degeneration, Weakness of facial musculature, Foot... OMIM:618811
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal amyotrophy, Chronic axonal neuropathy, Foot dor... OMIM:606595
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Cerebral atrophy, Gliosis, Cerebellar atrophy OMIM:618369
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal amyotrophy, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased distal sens... OMIM:618400
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia, Myopathy, Optic atrophy ORPHA:104
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Flexion contracture, Demyelinating peripheral neuropath... OMIM:618404
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction, Lower limb muscle weakness, Frontotemporal cerebral a... ORPHA:101001
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Lower limb muscle weakness, Thenar muscle atrophy, Decreased nerve ... ORPHA:352675
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... OMIM:167320
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Abnormal nerve conduction velocity, Muscular dystrophy, Aplasia/Hypoplas... ORPHA:2926
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed myelination, Gliosis, Flexion contracture, Abnormal autonomic nervous system physiology, ... OMIM:614498
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Wild Type Abeta2M Amyloidosis
Macroglossia, Decreased amplitude of sensory action potentials, Arrhythmia, Gastrointestinal hemo... ORPHA:85446
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Brachial plexus neuropathy, Skeletal muscle atrophy, Peripheral axonal degen... OMIM:162100
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Spinal muscular atrophy, Foot dorsi... OMIM:605726
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:105550
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Upper limb mus... OMIM:302802
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Skeletal muscle atrophy OMIM:618184
Hemimegalencephaly
Interictal EEG abnormality, Gliosis, Hemihypsarrhythmia, EEG with burst suppression, EEG with pol... ORPHA:99802
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity DECIPHER:29
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Adducted Thumbs Syndrome
Cerebral dysmyelination, Myelin-dependent gliosis, Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Immunodeficiency 83, Susceptibility To Viral Infections
EEG abnormality, Gliosis OMIM:613002
Microcephaly 10, Primary, Autosomal Recessive
Arthrogryposis multiplex congenita, Delayed myelination, Gliosis, Cerebral atrophy, Cerebellar at... OMIM:615095
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Sensory axonal neuropathy, Upper limb amyot... OMIM:616924
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal upper limb amyotrophy, Axonal loss, Onion bulb formation, Distal lower limb amyotrophy, Fo... OMIM:614455
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... OMIM:300580
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Skeletal muscle atrophy, ... OMIM:162400
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Optic atrophy, Brain atrophy, Hypertrophic cardiomyopathy OMIM:618236
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscle weakness, Achille... ORPHA:2596
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy OMIM:602541
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Skeletal muscle atrophy, Axonal degenera... OMIM:615157
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Salih Myopathy
Arrhythmia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Dilate... OMIM:611705
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:183050
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Myopathy, ... OMIM:603034
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Distal amyotrophy, Peripheral axonal degeneration, Decreased number of large ... OMIM:208920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Autonomic bladder dysfunction, Gliosis, Symmetric peripheral demyelination, Ortho... OMIM:169500
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension, Peripheral demyelination OMIM:616733
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Spinocerebellar Ataxia 25
Facial myokymia, Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1188
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
CNS demyelination, Gliosis, Neuronal loss in central nervous system OMIM:221820
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Degeneration of... OMIM:301830
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Neurodegeneration, Cerebellar atrophy, Facial palsy, CNS hypomyelination, Skeletal muscl... OMIM:616239
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Flexion contracture, Nemaline bodies, Distal amyotroph... OMIM:607684
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Decreased nerve conduction velocity, My... ORPHA:397744
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... OMIM:118300
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Cardiomyopathy OMIM:615119
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Scapular winging, Quadriceps muscle weakness, Hand muscle atrophy, Proximal muscle weakness in up... ORPHA:435387
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Nemaline Myopathy 7
Myofibrillar myopathy, Nemaline bodies, Minicore myopathy OMIM:610687
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Decreased nerve co... ORPHA:329478
Tangier Disease
Myocardial infarction, Distal amyotrophy, Peripheral axonal neuropathy, Left ventricular hypertro... OMIM:205400
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Cerebellar atrophy, EEG abnormality, Atrophy/Degeneration affecting th... OMIM:614946
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture OMIM:616471
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:101078
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Distal lower l... OMIM:609284
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Corticospinal tract atrophy OMIM:551500
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Global brain atrophy, Severe demyelination of the white matter,... OMIM:236792
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... ORPHA:399103
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Myopathy, Flexion contracture, Facial palsy OMIM:201470
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Cerebral atrophy, Sensory axonal neuropathy, Cerebellar a... ORPHA:254886
B4Galt1-Cdg
Myopathy ORPHA:79332
Rigid Spine Syndrome
Hamstring contractures, Cardiac conduction abnormality, Skeletal muscle atrophy, Hip contracture,... ORPHA:97244
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Decreased nerve conduction velo... OMIM:256600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Huntington Disease
Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system OMIM:143100
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Hand muscle atrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy,... ORPHA:101085
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Demy... ORPHA:99950
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:614932
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Sudden cardiac death, Atrial arrhythmia... OMIM:310300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Long-segment aganglionic megacolon, Abnorma... OMIM:609136
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, EEG with burst suppression, Diffuse demyelination of the cerebral white matter, Cerebell... ORPHA:168486
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia, Decreased nerve conduction velocity ORPHA:2928
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Lower limb muscle weakness, Abnormal peripheral action ... ORPHA:90117
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Galloway-Mowat Syndrome 5
Brain atrophy, Peripheral demyelination OMIM:617731
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Gliosis, Peripheral demyelination OMIM:220111
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Intrinsic hand muscle atrophy, Lower limb muscle weakn... ORPHA:3115
Myopathy, Spheroid Body
Myopathy, Skeletal muscle atrophy, Proximal amyotrophy OMIM:182920
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Optic atrophy, Motor axonal neur... ORPHA:1215
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Nemaline bodies, Facial palsy OMIM:615348
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Abnorma... ORPHA:478029
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Decreased sensory nerve conduction velocity, Peripheral demyelinat... OMIM:609033
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:218000
Cerebrooculofacioskeletal Syndrome 1
Arthrogryposis multiplex congenita, Delayed myelination, Gliosis, Camptodactyly, Knee flexion con... OMIM:214150
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Multifocal Motor Neuropathy
Motor conduction block, Weakness of long finger extensor muscles, Limb muscle weakness ORPHA:641
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal... ORPHA:139578
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Sensory axonal neuro... OMIM:608804
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Optic atrophy, Cardiomyopathy ORPHA:26792
Spinocerebellar Ataxia Type 25
Facial myokymia, Diffuse cerebellar atrophy, Decreased number of large peripheral myelinated nerv... ORPHA:101111
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Gliosis, Neuronal loss in central nervous system OMIM:604218
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Congestive heart failure ORPHA:66631
Isolated Glycerol Kinase Deficiency
Myopathy, EEG abnormality ORPHA:408
Pontocerebellar Hypoplasia, Type 4
Gliosis, Congenital contracture OMIM:225753
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Abnormality of peripheral nerve conduction, Cerebral cortical atrophy, M... ORPHA:48431
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy OMIM:616321
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Spinal muscular atrophy, Limb-girdle muscle atrophy, Distal lower limb amyo... ORPHA:466768
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fib... OMIM:125250
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Leukoencephalopathy With Vanishing White Matter
CNS demyelination, Optic atrophy, Gliosis, Cerebral hypomyelination OMIM:603896
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Limb-girdle mus... ORPHA:370980
Combined Oxidative Phosphorylation Deficiency 29
Delayed CNS myelination, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atroph... OMIM:616811
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb muscle weakness, EEG abnormality, Peri... ORPHA:206448
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Hypsarrhythmia, Cerebral atrophy, Neuronal loss in central nervous system ORPHA:204
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Cerebellar atrophy, Skelet... ORPHA:98755
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Gliosis, Global brain atrophy, Abnormal lower m... ORPHA:275872
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Flexion contracture of finger, Camptodactyly, Abnormal sensory nerve conduction velocity, Axonal ... ORPHA:88628
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Palpitations, Abnormal muscle fiber protein expression, Intrinsic h... ORPHA:488650
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Onion bulb... OMIM:610532
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy, Myopathy OMIM:618242
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Carcinoid Syndrome
Palpitations, Intestinal carcinoid, Right ventricular failure, Atypical pulmonary carcinoid tumor... ORPHA:100093
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber... ORPHA:319514
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Motor axonal neuropathy, Dilated cardiomyopathy, Myopathy, C... OMIM:300842
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Flexion contracture, Congestive heart failure, Skeletal muscle atrophy, Myopathy ORPHA:157973
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Cerebellar atrophy, Distal amyotrophy, Decreased nerve conduction ve... OMIM:612674
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Multiple joint contractures, Distal... ORPHA:98911
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Palpitations, Scapular winging, Proximal muscle weakness in lower l... ORPHA:206569
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis OMIM:612936
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting,... OMIM:609452
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Limb-girdle muscle weakness, Multiple joint contractures ORPHA:352470
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Decreased amplitude of sensory action potentials, Decreased nerve c... OMIM:618733
Neutral Lipid Storage Disease With Myopathy
Myopathy, Cardiomyopathy, Increased muscle lipid content OMIM:610717
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Achilles tendon contracture, Distal ... ORPHA:254361
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Syncope OMIM:603472
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Multiple jo... ORPHA:320406
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Adrenomyeloneuropathy
Leg muscle stiffness, Abnormality of peripheral nervous system electrophysiology, Atrophy/Degener... ORPHA:139399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Gliosis, Hypsarrhythmia, Flexion contracture, Cerebral atrophy, Cerebellar... ORPHA:79243
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Amyotrophic lateral scleros... ORPHA:600
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Cerebral atrophy, Generalized amyotrophy, Ragged-red muscle fibers,... OMIM:609560
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Lower limb muscle weakness, Thenar muscle atrop... OMIM:604360
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Peroneal ... OMIM:270550
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy ORPHA:93476
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Decrease... OMIM:615368
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy, Arterial rupture ORPHA:300179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Distal amyotro... OMIM:256850
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Autosomal Recessive Spastic Paraplegia Type 55
Arthrogryposis multiplex congenita, Decreased sensory nerve conduction velocity, Lower limb muscl... ORPHA:320375
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neuronal loss in central nervous system OMIM:607136
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
X-Linked Charcot-Marie-Tooth Disease Type 2
Tibialis atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Intrinsic hand... ORPHA:101076
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Shoulder girdle muscle wea... OMIM:606070
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Flexion contracture, Abnormal autonomic nervous system physiology, Cereb... ORPHA:35069
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:618356
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Cerebral atrophy, Gliosis, Peripheral demyelination OMIM:252160
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:159550
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atr... ORPHA:52430
Leigh Syndrome
CNS demyelination, Optic atrophy, Gliosis OMIM:256000
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Abnormality of the extraocular ... ORPHA:298
Sengers Syndrome
Myopathy, Hypertrophic cardiomyopathy OMIM:212350
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Decreased size of nerve terminals, Hip flexor weakness, Weakness of... ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal amyotrophy, Peripheral axonal neuropathy, Atrop... OMIM:256840
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy, Cerebellar atrophy, Generalized amyotrophy, Myopathy, Ragged-... ORPHA:352447
Cerebrotendinous Xanthomatosis
Gliosis, Global brain atrophy, Abnormal motor evoked potentials, Tendon xanthomatosis, Hypermyeli... ORPHA:909
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Leber Optic Atrophy
Myopathy, Optic atrophy, Optic neuropathy, Arrhythmia OMIM:535000
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... OMIM:606612
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Skeletal muscle atr... ORPHA:168563
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Torticollis, Distal amyotrophy, Cerebellar atrophy, Peripheral demyelination ORPHA:397946
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy OMIM:608807
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Autosomal Recessive Spastic Paraplegia Type 35
Corpus callosum atrophy, Pontocerebellar atrophy, Lower limb hypertonia, Cerebral cortical atroph... ORPHA:171629
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Distal amyotrophy, Axonal degeneration/regeneration, O... OMIM:601152
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154275
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Corpus callosum atrophy, Hypsarrhythmia, Cerebral atrophy, Limb hyp... ORPHA:565624
Spinocerebellar Ataxia, Autosomal Recessive 2
Gliosis OMIM:213200
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fiber predominanc... OMIM:161800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy ORPHA:369840
Neuropathy, Hereditary Sensory, Type Ie
Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:310440
Spinocerebellar Ataxia, X-Linked 3
Gliosis, Cerebellar atrophy, Optic atrophy, Neuronal loss in central nervous system, Optic disc p... OMIM:301790
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:262
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, EEG abnormality, Gliosis ORPHA:157941
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154276
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Multiple Sulfatase Deficiency
Cerebellar atrophy, CNS demyelination, Cerebral atrophy, Peripheral demyelination OMIM:272200
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia ORPHA:2349
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1933
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Corpus callosum atrophy, Temporal optic disc pallor, Cerebellar atrophy, Skelet... ORPHA:98673
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Cerebral atrophy, Gliosis, Peripheral demyelination OMIM:252150
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Hypertension, Myopathy, Caudate atrophy, Neuronal loss in central nervous system ORPHA:363400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Arthrogryposis multiplex congenita, Gliosis, Cerebellar atrophy, Skeletal muscle atrophy, Diffuse... OMIM:617193
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Arrhythmia, Viral infection-induced rhabdomy... ORPHA:57
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Flexion contracture, Decreased sensory nerve conductio... OMIM:619026
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy, Cardiomyopathy OMIM:232400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Mitral regurgitation, Sensory axonal neuropathy, Generalized amyotr... OMIM:258450
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Decreased muscle mass, Arrhythmia, Right bundle branc... ORPHA:263297
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Abnormal myelination, Abnormal morphology of musculature of pharynx, Cerebral hypomyelin... ORPHA:280210
Kanzaki Disease
Lip telangiectasia, Cerebral atrophy, Telangiectasia of the oral mucosa, Peripheral axonal neurop... OMIM:609242
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Caribbean Parkinsonism
EMG: myopathic abnormalities, Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal au... ORPHA:97355
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Spinal muscular atrophy, Weakness of facial musculature, Skeletal muscle atrophy ORPHA:254875
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy OMIM:615419
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Gliosis, Cardiomyopathy, Neurodegeneration OMIM:618321
Cardiomyopathy, Familial Hypertrophic, 4
Right bundle branch block, Left bundle branch block, Atrioventricular block, Transient ischemic a... OMIM:115197
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Cerebral atrophy, Bradycardia, Sensory axonal neuropath... OMIM:609286
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, Cerebral cortical atrophy, CNS hypomyelination, Myopathy, Cardiomyopathy OMIM:614922
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Spinocerebellar Ataxia 10
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:603516
Peho Syndrome
Peripheral dysmyelination, Hypsarrhythmia, Cerebellar atrophy, Optic atrophy, Neuronal loss in ce... OMIM:260565
Muscle-Eye-Brain Disease
Myopathy, Optic atrophy, EEG abnormality ORPHA:588
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy, Cardiomyopathy OMIM:617713
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Increased QRS voltage, Left ventricu... OMIM:619040
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Combined Oxidative Phosphorylation Defect Type 7
Lower limb muscle weakness, Decreased number of peripheral myelinated nerve fibers, Distal amyotr... ORPHA:254930
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies, Cardiomyopathy OMIM:616549
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:559
Scheie Syndrome
Abnormal nerve conduction velocity, Aortic regurgitation ORPHA:93474
Charcot-Marie-Tooth Disease Type 1E
Hand muscle weakness, Peroneal muscle atrophy, Demyelinating peripheral neuropathy, Peroneal musc... ORPHA:90658
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Gliosis OMIM:277470
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Barth Syndrome
Arrhythmia, Skeletal myopathy, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic car... OMIM:302060
Sialidosis Type 1
EEG abnormality, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:812
Friedreich Ataxia
Abnormal echocardiogram, Decreased amplitude of sensory action potentials, Decreased sensory nerv... OMIM:229300
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Gliosis ORPHA:3240
Machado-Joseph Disease
Cerebellar atrophy, Distal amyotrophy, Abnormal autonomic nervous system physiology, Gliosis OMIM:109150
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, Cerebellar atrophy, EEG abnormality, Decreased nerve conduction velocity, Optic a... ORPHA:485421
Carey-Fineman-Ziter Syndrome
Flexion contracture, Pectoralis hypoplasia, Facial palsy, Skeletal muscle atrophy, Myopathy OMIM:254940
Poliomyelitis
Abnormal motor nerve conduction velocity, Hypotension, Lower limb muscle weakness, Hypertension, ... ORPHA:2912
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Spinal cord po... ORPHA:1187
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy OMIM:307030
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Carnitine Deficiency, Systemic Primary
Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced muscle carnitine level OMIM:212140
Yuan-Harel-Lupski Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:616652
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Myocardial infarction, Gliosis ORPHA:457240
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:164400
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cerebral cortical atrophy, Decreased nerve conduction velocity OMIM:238970
Leigh Syndrome
Leukodystrophy, Gliosis, Hypsarrhythmia, Sensory axonal neuropathy, Cerebellar atrophy, Multiple ... ORPHA:506
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Cerebral atrophy, Atrophy of the spinal cord, Severe... ORPHA:79282
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Myopathy, EEG abnormality, Skeletal muscle atrophy ORPHA:85329
Charcot-Marie-Tooth Disease Type 4C
Tibialis atrophy, Scapular winging, Decreased muscle mass, Proximal amyotrophy, Abnormal motor ne... ORPHA:99949
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Myopathy With Lactic Acidosis, Hereditary
Palpitations, Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets OMIM:255125
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Increased intramyocellular lipid droplets, Gliosis, Arrhythmia, Rhabdomyolysis,... ORPHA:26791
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Delayed myelination, Corpus callosum atrophy, Gliosis, Cerebral cortical atrophy, C... OMIM:248500
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Central nervous system degeneration, Cerebral atrophy, Gliosis, Neuronal loss in central nervous ... OMIM:602613
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Decreased numb... ORPHA:477817
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Decreased size of nerve terminals, Type 1 muscle fiber pr... ORPHA:98915
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Cerebral c... OMIM:615663
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity OMIM:610651
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Cerebral atrophy ORPHA:369847
East Syndrome
Peripheral axonal neuropathy, Cerebellar atrophy, Peripheral hypomyelination, Lower limb muscle w... ORPHA:199343
Progressive Supranuclear Palsy
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system ORPHA:683
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Reduced ejection fraction, Palpitations, Ar... ORPHA:254892
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Pulmonary... ORPHA:550
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Lower limb hypertonia, Abnormal left ventricular function, Skeletal... ORPHA:3208
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal heart rate variability, Shoulder girdle ... ORPHA:206436
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Adrenomyodystrophy
Myopathy OMIM:300270
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure,... ORPHA:79083
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Facial hypotonia, Gliosis, Delayed myelination, Axonal loss, Cerebral atrophy, Achilles tendon co... ORPHA:404454
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Demyelinating peripheral neuropathy, Dilated cardiomyopathy, Ragg... ORPHA:255210
Hyperkalemic Periodic Paralysis
Arrhythmia, Skeletal muscle hypertrophy, Flexion contracture, Congestive heart failure, Skeletal ... ORPHA:682
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Distal arthrogryposis, Skeletal muscle atrophy, Arrhythmia ORPHA:42
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Hand muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness... OMIM:606071
Primary Pigmented Nodular Adrenocortical Disease
Myopathy, Hypertension, Skeletal muscle atrophy ORPHA:189439
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Congestive heart failure, Shortened PR interval, Myopathy, Bradycardia... OMIM:261740
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Intellectual Developmental Disorder, X-Linked 12
Gliosis OMIM:300957
Scleroderma
Intestinal bleeding, Pericarditis, Right ventricular failure, Flexion contracture, Cerebral atrop... ORPHA:801
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Delayed peripheral myelination ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Pontocerebellar atrophy, ... OMIM:606002
Friedreich Ataxia