Gene: Stmn1 MGI:96739

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.

Human diseases associated with Stmn1 (0 diseases)
Human diseases predicted to be associated with Stmn1 (688 diseases)

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	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal amyotrophy, Segmental peripheral demyelination, Decreased number of peripheral myelinated ...	OMIM:606482
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Basal lamina onion bulb formation, CNS hypomyelinati...	OMIM:214400
Charcot-Marie-Tooth Disease Type 2B1	Distal lower limb muscle weakness, Clusters of axonal regeneration, Hand muscle weakness, Axonal ...	ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Distal amyotrophy, Peripheral axonal atrophy, Peripheral axonal neuropathy, Decreased number of p...	OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Clusters of axonal regeneration, Distal amyotrophy, Decreased motor nerve conduction velocity, De...	OMIM:607734
Charcot-Marie-Tooth Disease, Type 4J	Distal arthrogryposis, Decreased nerve conduction velocity, Decreased motor nerve conduction velo...	OMIM:611228
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Lower limb amyotrophy, Upper limb amyotrophy, Intrinsic hand muscle...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Proximal muscle weakness in lower limbs, Distal amyotrophy, Decreased motor nerve conduction velo...	OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti...	OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Distal amyotrophy, Decreased nerve conduction velocity, Decreased mot...	OMIM:601098
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Decreased nerve conduction velocity, Onion bulb formation	OMIM:608236
Chronic Inflammatory Demyelinating Polyneuropathy	Hand muscle weakness, Motor conduction block, Decreased nerve conduction velocity, Abnormal nerve...	ORPHA:2932
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Distal amyotrophy, Decreased motor nerve conduction velocity, ...	OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas...	OMIM:118200
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand muscle weakness, Froment sign, Decreased motor nerve conduction velocity, Segmental peripher...	OMIM:162500
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Distal amyotrophy, Hand muscle weakness, Axonal rege...	OMIM:608323
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Arrhythmia, Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelinatio...	ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4H	Distal lower limb amyotrophy, Small thenar eminence, Distal lower limb muscle weakness, Small hyp...	OMIM:609311
Subacute Inflammatory Demyelinating Polyneuropathy	Abnormality of the calf musculature, Decreased sensory nerve conduction velocity, Motor conductio...	ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Distal amyotrophy, Segmental peripheral demyelination, Thenar muscle atrophy, Foot dorsiflexor we...	OMIM:606483
Obsolete: Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies	Lower limb muscle weakness, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Sym...	ORPHA:208981
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal amyotrophy, Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decrease...	OMIM:605588
Charcot-Marie-Tooth Disease, Type 4C	Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Distal amyotrophy, Segmenta...	OMIM:601596
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Segmental periph...	OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Limb muscle weakness, Distal amyotrophy, Decreased motor nerve conduc...	OMIM:118220
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Basal lamina onion bulb formation, Intrinsic hand muscle atrophy, Distal amyotrophy, Skeletal mus...	OMIM:614895
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ...	ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axo...	OMIM:614436
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy, Decreased motor nerve conduction velocity, Peripheral axonal n...	OMIM:610100
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotro...	OMIM:608340
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas...	OMIM:180800
Scapuloperoneal myopathy, myh7-related	Weakness of facial musculature, Scapuloperoneal myopathy, EMG: myopathic abnormalities, Myopathy	OMIM:181430
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased sensory nerve conduction velocity, Distal amyotrophy, Peripheral axonal atrophy, Decrea...	OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Decreased number...	OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Distal amyotrophy, Axonal regeneration, Foot dorsiflexor weakness, Decreased number of peripheral...	OMIM:607731
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Distal lower limb muscle weakness, Hypertrophic nerv...	OMIM:145900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in lower limbs, Decreased nerve conduction velocity, Proximal muscle wea...	OMIM:618138
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy	DECIPHER:59
Charcot-Marie-Tooth Disease Type 4G	Lower limb amyotrophy, Distal lower limb muscle weakness, Distal amyotrophy, Motor conduction blo...	ORPHA:99953
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Abnormality of the Achilles tendon, Abnormal myelination, Abnormali...	ORPHA:431329
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Axonal regeneration, Peripheral ...	OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Distal lower limb muscle weakness, Distal amyotrophy, Fatty replacement of skeletal muscle, Perip...	OMIM:618279
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Demyelinating sensory neuropathy, Lower limb muscle weakness, Distal amyotrophy, Abnormal motor e...	ORPHA:99939
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Foot dorsiflexor weakness, Onion bulb formation	OMIM:616039
Null Syndrome	CNS hypomyelination, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Pe...	ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Motor axonal neuropathy, Proximal amyotrophy, Intrinsic hand muscle...	OMIM:620068
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Claw hand deformity, Distal lower limb muscle weakness, Axonal rege...	OMIM:605285
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Proximal amyotrophy, Decreased number of peripheral myelinated nerve fibers, Gliosis, Axonal dege...	OMIM:604484
Charcot-Marie-Tooth Disease, Type 4B1	Distal amyotrophy, Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evo...	OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Peripheral axo...	OMIM:613287
Amyotrophic Lateral Sclerosis 4, Juvenile	Diffuse axonal swelling, Distal amyotrophy, Atrophy of the spinal cord, Abnormal lower motor neur...	OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal amyotrophy, Peripheral ax...	OMIM:600882
Spastic Paraplegia With Neuropathy And Poikiloderma	Distal amyotrophy, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb f...	OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Intrinsic hand muscle atrophy, Decreased muscle mass, Knee flexion contracture, Peripheral axonal...	OMIM:615490
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Hand muscle weakness, Decreased ...	OMIM:302800
Gne Myopathy	Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we...	ORPHA:602
Klhl9-Related Early-Onset Distal Myopathy	Abnormality of the calf musculature, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities,...	ORPHA:399081
Distal Myopathy, Welander Type	Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy, EMG: myopathic abnormalities, Distal upp...	ORPHA:603
Myopathy, Myofibrillar, 5	Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting, Abnor...	OMIM:609524
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Decreased nerve conduction velocity, Central nervous system degeneration...	ORPHA:868
Charcot-Marie-Tooth Disease, Type 4B2	Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased number of peripheral myel...	OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Distal lower limb muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Nemaline bodies...	OMIM:607684
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ...	OMIM:609115
Distal Hereditary Motor Neuropathy Type 5	Thenar muscle weakness, Distal lower limb muscle weakness, Distal amyotrophy, First dorsal intero...	ORPHA:139536
Myopathy, Distal, 5	Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ...	OMIM:617030
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str...	OMIM:617158
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ...	ORPHA:276435
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction vel...	OMIM:618184
Neuropathy, Hereditary Motor, With Myopathic Features	Motor axonal neuropathy, Proximal muscle weakness in lower limbs, Lower limb amyotrophy, Distal l...	OMIM:619216
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Distal lower limb amyotrophy, Claw hand deformity, Chronic axonal neuropathy, Decreased motor ner...	OMIM:606595
Myopathy, Distal, 4	Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat...	OMIM:614065
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Lower limb muscle weakness, Skeletal muscle atrophy, Decreased...	OMIM:615284
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Distal arthrogryposis, Fiber type grouping, Wrist drop, Plantar flexion contracture, Arthrogrypos...	OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Distal amyotrophy, Peripheral demyelination, Axonal degeneration/regeneration, Foot dorsiflexor w...	OMIM:607736
Neuronopathy, Distal Hereditary Motor, Type Vc	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Thenar muscle...	OMIM:619112
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral...	OMIM:604168
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Distal amyotrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyel...	OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Lower limb amyotrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large...	OMIM:617087
Neuronopathy, Distal Hereditary Motor, Type Vb	Peroneal muscle weakness, Thenar muscle atrophy, Peroneal muscle atrophy, Decreased motor nerve c...	OMIM:614751
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Decreased nerve ...	ORPHA:101082
Hereditary Motor And Sensory Neuropathy V	Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot ...	OMIM:600361
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Decreased motor nerve conduction...	OMIM:605726
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Wrist drop, Weakness of facial musculature, Distal amyotrophy, Dist...	OMIM:619519
Carnitine Deficiency, Myopathic	Reduced muscle carnitine level, Myopathy	OMIM:212160
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Foot dorsiflexor weakness, Vestibular schwa...	OMIM:613641
Spinocerebellar Ataxia Type 43	Distal lower limb muscle weakness, Distal amyotrophy, Peripheral axonal neuropathy, Decreased num...	ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Lower limb muscle weakness, Upper limb muscle weakness, Axonal degeneration, Foot dorsiflexor wea...	OMIM:616155
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Proximal amyotrophy, Compound muscle action potential amplitude facilitation, Distal amyotrophy, ...	OMIM:616040
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation, Distal lower limb muscle weakness	ORPHA:98916
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Distal amyotrophy, Decreased motor ...	OMIM:615376
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Intrinsic hand muscle atro...	ORPHA:101077
Methionine Adenosyltransferase I/Iii Deficiency	Peripheral demyelination, CNS demyelination	OMIM:250850
Leber Hereditary Optic Neuropathy	Myopathy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Optic atrophy	ORPHA:104
Monomelic Amyotrophy	Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degeneration of anterio...	ORPHA:65684
Developmental And Epileptic Encephalopathy 71	Gliosis, CNS demyelination, EEG with burst suppression	OMIM:618328
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Motor axonal neuropathy, Cerebral atrophy, Sensory axonal neuropathy, EEG abnormality, Skeletal m...	ORPHA:457205
Krabbe Disease	EEG abnormality, Diffuse cerebral atrophy, CNS demyelination, Decreased nerve conduction velocity...	OMIM:245200
Charcot-Marie-Tooth Disease Type 4A	Shoulder girdle muscle weakness, Hand muscle weakness, Weakness of facial musculature, Distal amy...	ORPHA:99948
Myopathy, Myofibrillar, 3	Distal amyotrophy, Cardiomyopathy, Myofibrillar myopathy, Achilles tendon contracture, Muscle fib...	OMIM:609200
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Axonal regeneration, Decreased motor nerve conduction velocity, Decreased numb...	OMIM:607831
Merrf	Optic atrophy, Ragged-red muscle fibers, Myopathy	ORPHA:551
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Camptodactyly of finger, Spinal muscular atrophy, Distal amyotrophy, Denervation of the diaphragm...	OMIM:604320
Neuronopathy, Distal Hereditary Motor, Type Iid	Lower limb amyotrophy, Spinal muscular atrophy, Lower limb muscle weakness, Triceps weakness, Dec...	OMIM:615575
Bethlem Myopathy 1	Camptodactyly of finger, Torticollis, Myopathy, Skeletal muscle atrophy, Congenital muscular tort...	OMIM:158810
Charcot-Marie-Tooth Disease, Type 4K	Peripheral demyelination, Skeletal muscle atrophy, Axonal loss	OMIM:616684
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy	OMIM:609500
Mitochondrial Myopathy With Diabetes	Proximal amyotrophy, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Facial p...	OMIM:500002
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Decreased motor nerve c...	OMIM:607678
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac...	ORPHA:611
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral demyelination, Peripheral axonal neuropathy	ORPHA:231445
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Myopathy	OMIM:208100
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Peripheral demyelination, Decreased nerve conduction velocity, CNS demyelination	OMIM:249900
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Decreased motor nerve c...	OMIM:302801
Nonaka Myopathy	Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol...	OMIM:605820
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, EEG abnormality, Peripheral demyelination, Gliosis, Axonal loss, Caudate atrophy	OMIM:221770
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle amyotrophy, Shoulder ...	OMIM:167320
Spastic Paraplegia 55, Autosomal Recessive	Lower limb amyotrophy, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Peripheral a...	OMIM:615035
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Distal amyotrophy, Peripheral axonal neuropathy, Decreased number of peripheral...	OMIM:607250
Nemaline Myopathy 6	Limb muscle weakness, Skeletal muscle atrophy, Nemaline bodies, Myopathy	OMIM:609273
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Gliosis, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:614959
Macular Degeneration, Age-Related, 3	Distal amyotrophy, Decreased nerve conduction velocity, Peripheral axonal neuropathy	OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Decreased motor nerve...	OMIM:616687
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy	Proximal muscle weakness in lower limbs, Decreased amplitude of sensory action potentials, Decrea...	OMIM:618912
Tibial Muscular Dystrophy	Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Cardiomyopathy, EMG: ...	ORPHA:609
Leukodystrophy, Hypomyelinating, 18	Abnormal motor nerve conduction velocity, Atrophy/Degeneration affecting the brainstem, Decreased...	OMIM:618404
Congenital Myopathy 5 With Cardiomyopathy	Minicore myopathy, Myopathy, Weakness of facial musculature, Arrhythmia, Severely reduced left ve...	OMIM:611705
Mitochondrial Dna Depletion Syndrome 18	Distal amyotrophy, Weakness of facial musculature, Axonal degeneration, Foot dorsiflexor weakness...	OMIM:618811
Hemimegalencephaly	EEG with focal spikes, EEG with focal sharp slow waves, Gliosis, EEG with burst suppression, EEG ...	ORPHA:99802
Spinal Muscular Atrophy, X-Linked 2	Spinal muscular atrophy, Myopathy, Facial palsy, Decreased compound muscle action potential ampli...	OMIM:301830
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Axonal loss, Neurodegeneration, C...	OMIM:617672
Myasthenic Syndrome, Congenital, 25, Presynaptic	Flexion contracture, Generalized amyotrophy, Decreased compound muscle action potential amplitude...	OMIM:618323
Wild Type Abeta2M Amyloidosis	Macroglossia, Abnormality of the thenar eminence, Abnormal tendon morphology, Arrhythmia, Decreas...	ORPHA:85446
Amyotrophy, Hereditary Neuralgic	Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen...	OMIM:162100
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Axonal loss, Amyotrophic lateral sclerosis	OMIM:300857
Lethal Congenital Contracture Syndrome 8	Distal arthrogryposis, Facial diplegia, Distal amyotrophy, Peripheral hypomyelination, Flexion co...	OMIM:616287
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Myelin-dependent gliosis, Cerebral dysmyelination, Myopathy	OMIM:201550
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, CNS demyelination, Hypertrophic cardiomyopathy, Flexion contracture, Optic atrophy, Cer...	OMIM:618237
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a...	ORPHA:178464
Charcot-Marie-Tooth Disease Type 1A	Decreased sensory nerve conduction velocity, Acute demyelinating polyneuropathy, Skeletal muscle ...	ORPHA:101081
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Myopathy, Facial palsy, Dilated cardiomyopathy, Type 1 fibers relative...	OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Muscular dystrophy, EMG: myopathic ab...	OMIM:611307
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Distal amyotrophy, Decreased nerve conduction velocity, Abnormal auditory ev...	OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Distal amyotrophy, Decreased distal sensory nerve action potential, Foot dorsiflexor weakness, Pe...	OMIM:618400
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Distal amyotrophy, Decreased motor nerve conduction velocity	OMIM:605589
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic la...	OMIM:105550
Autosomal Recessive Spastic Paraplegia Type 21	Lower limb muscle weakness, Abnormality of peripheral nerve conduction, Frontotemporal cerebral a...	ORPHA:101001
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic erectile dysfunction, Symmetric peripheral demyelination, Autonomic bladder dysfunction...	OMIM:169500
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske...	OMIM:616313
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr...	OMIM:608358
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Abnormal motor nerve conduction velocity, EMG: myopathic abnormalities, ...	OMIM:614399
Myopathy, Myofibrillar, 6	Mitral regurgitation, Lower limb muscle weakness, Muscular dystrophy, Knee flexion contracture, M...	OMIM:612954
Autosomal Dominant Spastic Paraplegia Type 17	Distal amyotrophy, Hand muscle weakness, Abnormal motor nerve conduction velocity, Abnormality of...	ORPHA:100998
Scapuloperoneal Myopathy, X-Linked Dominant	Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion...	OMIM:300695
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Proximal amyotrophy, Myopathy, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Scapular winging, ...	OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Sensory axonal ne...	OMIM:616924
Myopathy, Distal, Tateyama Type	Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ...	OMIM:614321
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Optic atrophy, Brain atrophy, Myopathy	OMIM:618236
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar musc...	OMIM:118300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Facial diplegia, Skeletal muscle atrophy, Decreased ...	OMIM:218000
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Hypertrophic nerve changes, Decreased motor nerve conduction velocity	DECIPHER:29
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Hypomimic face, Atrophy/Degeneration affecting the brainstem, Abnormal nerve conduct...	OMIM:619862
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Myopathy, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Kne...	OMIM:310300
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, I...	OMIM:608099
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Shoulder...	ORPHA:2596
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Distal upper limb amyotrophy, Abnormal nerve conduction velocity	ORPHA:101075
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Global brain atrophy, CNS demyelination, Gliosis, Corpus callosum atrophy, Neuronal loss in centr...	OMIM:221820
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus...	OMIM:615424
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Scapulohumeral muscular dystrophy, Myopathy	OMIM:160570
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Distal upper limb amyotrophy, Axonal loss, Foo...	OMIM:614455
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Distal amyotrophy, De...	ORPHA:435387
Combined Oxidative Phosphorylation Deficiency 24	CNS hypomyelination, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Gliosis, ...	OMIM:616239
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Myopathy	OMIM:255100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy...	OMIM:254110
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Congenital Myopathy With Myasthenic-Like Onset	Rhabdomyolysis, Minicore myopathy, Myopathy, Type 1 muscle fiber predominance, EMG: myopathic abn...	ORPHA:424107
Myasthenic Syndrome, Congenital, 5	Myopathy, Decreased muscle mass, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, D...	OMIM:603034
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Facial diplegia, Distal lower limb muscle weakness, Shoulder girdle...	OMIM:609284
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Peripheral demyelination, Hypertension, Left ventricular hypertrophy	OMIM:616733
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Limb hypertonia, Abnormal autonomic nervous system physiology, Gliosis, Neuronal loss in central ...	OMIM:614498
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination, Neuronal loss in central nervous system	ORPHA:71211
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Weakness of facial musculature, Cardiomyopathy, EMG: myopathic ab...	ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Decrea...	OMIM:603511
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Distal lower limb muscle weakness, Cardiomyopathy, Flexion contracture of finger, Increased endom...	ORPHA:206549
Adult-Onset Nemaline Myopathy	Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit...	ORPHA:171442
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Distal amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Peripheral axona...	OMIM:208920
Rigid Spine Syndrome	Myopathy, Hamstring contractures, Skeletal muscle atrophy, Cardiac conduction abnormality, Hip co...	ORPHA:97244
Adult-Onset Distal Myopathy Due To Vcp Mutation	Abnormality of the musculature of the lower limbs, Facial diplegia, Intrinsic hand muscle atrophy...	ORPHA:329478
Huntington Disease	Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy	OMIM:143100
Immunodeficiency 83, Susceptibility To Viral Infections	EEG abnormality, Gliosis	OMIM:613002
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Myopathy	OMIM:551500
X-Linked Charcot-Marie-Tooth Disease Type 6	Distal lower limb amyotrophy, Lower limb muscle weakness, Thenar muscle atrophy, Decreased nerve ...	ORPHA:352675
Digital Extensor Muscle Aplasia-Polyneuropathy	Camptodactyly of finger, Muscular dystrophy, Skeletal muscle atrophy, Abnormal nerve conduction v...	ORPHA:2926
Alpha-B Crystallin-Related Late-Onset Myopathy	Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber ...	ORPHA:399058
Multiminicore Myopathy	Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Abnormal muscle fiber morph...	ORPHA:598
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebral atrophy, Myopathy, Hand muscle weakness, Sensory axonal neuropathy, Cardiomyopathy, Musc...	ORPHA:254886
Posterior Column Ataxia With Retinitis Pigmentosa	Decreased sensory nerve conduction velocity, Camptodactyly, Skeletal muscle atrophy, Flexion cont...	OMIM:609033
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Thenar muscle atrophy, Decreased motor nerve conduction velocity	OMIM:620111
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers	OMIM:609283
Tangier Disease	Facial diplegia, Left ventricular hypertrophy, Distal amyotrophy, Peripheral axonal neuropathy, P...	OMIM:205400
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy	OMIM:616471
Microcephaly 10, Primary, Autosomal Recessive	Arthrogryposis multiplex congenita, Cerebral atrophy, Gliosis, Delayed CNS myelination, Cerebella...	OMIM:615095
Congenital Disorder Of Glycosylation, Type Iid	Decreased muscle mass, Myopathy	OMIM:607091
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Muscle fiber splitting, Myofibrillar myopathy, Nemaline bodies,...	ORPHA:97240
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Skeletal muscle hypertrophy, Abnormal nerve conduction velocity	ORPHA:99014
Autosomal Dominant Optic Atrophy Plus Syndrome	Motor axonal neuropathy, Temporal optic disc pallor, Absent brainstem auditory responses, Myopath...	ORPHA:1215
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle...	OMIM:302802
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity	ORPHA:1188
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Peroxisome Biogenesis Disorder 8B	Peripheral demyelination, Cerebellar vermis atrophy, Corpus callosum atrophy, Optic atrophy, Brai...	OMIM:614877
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Increased vari...	OMIM:612937
Parkinsonism With Polyneuropathy	Decreased compound muscle action potential amplitude, Diffuse cerebral atrophy, Decreased amplitu...	OMIM:619279
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Shoulder girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Fatty replace...	ORPHA:266
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Distal lower limb muscle weakness, Hand muscle weakness, Opt...	ORPHA:101085
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Optic neuropathy, Delayed myelination, Abnormal autonomic nervous system ph...	ORPHA:478029
Childhood-Onset Nemaline Myopathy	Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Type 1 muscle fiber predominance, ...	ORPHA:171439
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Gliosis, Corpus callosum atrophy, Severe demyelination of the white matter,...	OMIM:236792
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Decreased nerve conduction velocity, Gliosis, Neurodegeneration, Neuronal loss ...	OMIM:256600
Nemaline Myopathy 8	Flexion contracture, Facial palsy, Myofibrillar myopathy, Nemaline bodies	OMIM:615348
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Leukodystrophy, Hypomyelinating, 24	Cerebral atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexio...	OMIM:619851
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy	ORPHA:1878
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Proximal muscle weakness in lower limbs, Wolff-Parkinson-White syndrome, Distal lower limb muscle...	OMIM:619566
Isolated Glycerol Kinase Deficiency	EEG abnormality, Myopathy	ORPHA:408
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap...	OMIM:618129
Congenital Neuronal Ceroid Lipofuscinosis	Gliosis, Abnormal astrocyte morphology, EEG with burst suppression, Diffuse demyelination of the ...	ORPHA:168486
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy	ORPHA:270
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Cerebral atrophy, Myopathy, Hypertrophic cardiomyopathy, Brain atrophy, Gliosis, ...	OMIM:604377
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
Leukodystrophy, Hypomyelinating, 5	Lower limb amyotrophy, CNS hypomyelination, Lower limb muscle weakness, Decreased motor nerve con...	OMIM:610532
Cerebrooculofacioskeletal Syndrome 1	Camptodactyly, Arthrogryposis multiplex congenita, Delayed myelination, CNS demyelination, Knee f...	OMIM:214150
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Myopathy, Muscular dystrophy, EEG abnormality, Hypoglycosylation of alph...	ORPHA:272
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Myopathy	OMIM:545000
Myopathy, Tubular Aggregate, 1	Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea...	OMIM:160565
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Gliosis, CNS demyelination, Cerebral hypomyelination	OMIM:603896
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Mitochondrial Complex I Deficiency, Nuclear Type 21	Leukodystrophy, Ragged-red muscle fibers, Myopathy	OMIM:618242
Myopathy, Centronuclear, 1	Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta...	OMIM:160150
Myopathy, X-Linked, With Postural Muscle Atrophy	Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: my...	OMIM:300696
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Cardiomyopathy, Myopathy	ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy, Decreased nerve conduction velocity, Leukodystrophy	OMIM:614932
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor	ORPHA:98890
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, EMG: myopathic abn...	ORPHA:370980
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Increased variability in muscle fiber diamete...	OMIM:125250
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu...	ORPHA:86812
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Skeletal muscle atrophy, Chronic axonal neuropathy, ...	OMIM:162400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty ...	OMIM:608807
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the seventh cranial nerve, Upper limb muscle weakness, Abnormal peripheral action ...	ORPHA:90117
Laing Early-Onset Distal Myopathy	Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak...	ORPHA:59135
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Short-segment aganglionic megacolon, Dysmyelinating leukodystrophy, Cerebral atrophy...	OMIM:609136
Spinocerebellar Ataxia, Autosomal Recessive 27	Torticollis, Lower limb hypertonia, Gliosis, Cerebellar atrophy, Cerebral cortical atrophy	OMIM:618369
Combined Oxidative Phosphorylation Deficiency 29	Global brain atrophy, Optic neuropathy, Axonal degeneration, Delayed CNS myelination, Optic atrop...	OMIM:616811
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy, Decreased nerve conduction velocity	OMIM:183050
Nemaline Myopathy 7	Minicore myopathy, Shoulder girdle muscle weakness, Weakness of facial musculature, Knee flexion ...	OMIM:610687
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Facial myokymia, Diffuse cerebellar...	ORPHA:101111
Oculopharyngodistal Myopathy 2	Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl...	OMIM:618940
Adult Krabbe Disease	Lower limb muscle weakness, EEG abnormality, CNS demyelination, Peripheral demyelination, Upper l...	ORPHA:206448
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Distal lower limb muscle weakness, Hand muscle weakness, Atrophy of the spinal cord, Flexion cont...	ORPHA:466768
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H...	OMIM:601419
Sporadic Creutzfeldt-Jakob Disease	Hypsarrhythmia, Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system	ORPHA:204
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Camptodactyly, Abnormal sensory nerve conduction velocity, Flexion contracture of finger, Abnorma...	ORPHA:88628
Congenital Myasthenic Syndromes With Glycosylation Defect	Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Muscle fiber tubular inclus...	ORPHA:353327
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Motor axonal neuropathy, Camptodactyly of finger, Abnormality of peripheral nerve conduction, Acu...	ORPHA:48431
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Gliosis	OMIM:225753
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri...	ORPHA:34516
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Myopathy, Left ventricular hypertrophy, Arrhythmia, Hypertension,...	OMIM:540000
Roussy-Lévy Syndrome	Acute demyelinating polyneuropathy, Intrinsic hand muscle atrophy, Lower limb muscle weakness, Di...	ORPHA:3115
Spinocerebellar Ataxia Type 1	Atrophy/Degeneration affecting the brainstem, Skeletal muscle atrophy, Abnormal nerve conduction ...	ORPHA:98755
Charcot-Marie-Tooth Disease Type 4D	Lower limb amyotrophy, Distal lower limb muscle weakness, Decreased amplitude of sensory action p...	ORPHA:99950
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Distal amyotrophy, Abnormal autonomic nervous system physiology, Decreased motor nerve conduction...	ORPHA:139578
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Myopathy, Lower limb muscle weakness, Decreased nerve conduction velocity, EMG: myopathic abnorma...	ORPHA:397744
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Gliosis, Hypertrophic cardiomyopathy	OMIM:615119
Congenital Myopathy 6 With Ophthalmoplegia	Myopathy, Type 1 muscle fiber predominance, Scapular winging, Muscle fiber inclusion bodies, Cong...	OMIM:605637
Carcinoid Syndrome	Small intestine carcinoid, Myopathy, Facial telangiectasia, Palpitations, Tricuspid regurgitation...	ORPHA:100093
Amyotrophic Lateral Sclerosis 21	Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Abnorma...	OMIM:606070
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal...	OMIM:608423
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Myopathy	ORPHA:154
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Distal amyotrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Achi...	OMIM:612674
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Decreased nerve conduction velocity	ORPHA:101078
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ...	ORPHA:437572
Myopathy, Myofibrillar, 2	Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ...	OMIM:608810
Distal Myopathy, Tateyama Type	Intrinsic hand muscle atrophy, Palpitations, EMG: myopathic abnormalities, Abnormal muscle fiber ...	ORPHA:488650
Cednik Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction, Congestive heart failure	ORPHA:66631
Pyruvate Dehydrogenase E1-Alpha Deficiency	Hypsarrhythmia, Cerebral atrophy, EEG with generalized sharp slow waves, EEG with focal spikes, E...	ORPHA:79243
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy	ORPHA:91130
Finnish Upper Limb-Onset Distal Myopathy	Intrinsic hand muscle atrophy, Cardiomyopathy, EMG: myopathic abnormalities, Fatty replacement of...	ORPHA:399086
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Shoulder flexio...	OMIM:605355
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Abnormal lower motor neuron morphology, Gliosis, Degeneration of the latera...	ORPHA:275872
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	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy	OMIM:618992
Congenital Muscular Dystrophy Due To Lmna Mutation	Myopathy, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Flexion contracture	ORPHA:157973
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Fiber type grouping, Sensory axonal neuropathy, Distal amyotrophy, Cerebellar cortical atrophy, A...	OMIM:271245
Distal Myotilinopathy	Abnormal muscle fiber myotilin, Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, ...	ORPHA:98911
Vocal Cord And Pharyngeal Distal Myopathy	Abnormality of the calf musculature, Shoulder girdle muscle weakness, Decreased nerve conduction ...	ORPHA:600
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Muscle fiber splitting, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathi...	OMIM:609452
Combined Oxidative Phosphorylation Defect Type 13	Type 1 muscle fiber predominance, Delayed myelination, Decreased nerve conduction velocity, Type ...	ORPHA:319514
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy	OMIM:610717
Immune-Mediated Necrotizing Myopathy	Myocarditis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, Myopathy, Palpitations,...	ORPHA:206569
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Leukodystrophy, Hypomyelinating, 2	Cerebral hypomyelination, Cerebral atrophy, Sensory axonal neuropathy, Optic atrophy, Decreased m...	OMIM:608804
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Creatine Phosphokinase, Elevated Serum	Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf...	OMIM:123320
Abetalipoproteinemia	Peripheral demyelination, CNS demyelination	OMIM:200100
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Distal amyotrophy, Optic disc pallor, Multiple joint contractures, ...	ORPHA:320406
Mitochondrial Complex I Deficiency, Nuclear Type 25	Nemaline bodies, Myopathy	OMIM:618246
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical...	ORPHA:98855
Adrenomyeloneuropathy	Leg muscle stiffness, Distal lower limb muscle weakness, Atrophy of the spinal cord, Abnormality ...	ORPHA:139399
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Gliosis, Optic disc pallor, Limb hypertonia	OMIM:612936
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Spinal muscular atrophy, Weakness of facial musculature, ...	ORPHA:1145
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Proximal lower limb a...	OMIM:310440
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Calf muscle hypertrophy, Knee flexion contracture, Decreased amplitude...	OMIM:618733
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Dilated cardi...	OMIM:602541
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Arterial rupture, Myopathy	ORPHA:300179
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia, Camptodactyly of finger, Decreased nerve conduction velocity	ORPHA:2928
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Limb-girdle muscle weakness, Distal lower limb muscle weakness, Proximal upper limb muscle hypert...	ORPHA:254361
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities	OMIM:600334
Spastic Paraplegia 17, Autosomal Dominant	Thenar muscle weakness, Lower limb muscle weakness, First dorsal interossei muscle atrophy, Dista...	OMIM:270685
Nemaline Myopathy 2	Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type ...	OMIM:256030
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,...	OMIM:603689
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical...	ORPHA:98853
Intermediate Nemaline Myopathy	Facial diplegia, Type 1 muscle fiber predominance, Cardiomyopathy, Skeletal muscle atrophy, EMG: ...	ORPHA:171433
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome, Myopathy	OMIM:618234
Spinocerebellar Ataxia 17	Neuronal loss in central nervous system, Diffuse cerebral atrophy, Gliosis, Cerebellar atrophy	OMIM:607136
Central Core Disease	Myopathy, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Nemaline bodie...	ORPHA:597
Spinocerebellar Ataxia, Autosomal Recessive 2	Gliosis, Cerebellar vermis atrophy	OMIM:213200
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Limb muscle weakness, Type 2 muscle fiber atrophy, Myopathy	OMIM:605809
Autosomal Recessive Spastic Paraplegia Type 55	Decreased sensory nerve conduction velocity, Optic neuropathy, Lower limb muscle weakness, Skelet...	ORPHA:320375
Trigeminal Neuralgia	Cranial nerve compression, CNS demyelination, Peripheral demyelination	ORPHA:221091
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical...	ORPHA:98863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Achi...	OMIM:608840
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased sensory nerve conduction velocity, Peroneal muscle atrophy, Distal amyotrophy, Decrease...	OMIM:270550
Congenital Myopathy 1B, Autosomal Recessive	Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce...	OMIM:255320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Macroglossia, Myopathy, Increased muscle glycogen content, Increased muscle lipid content, Ragged...	ORPHA:254864
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Decreased numbe...	OMIM:201300
Tubular Aggregate Myopathy	Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr...	ORPHA:2593
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Proximal amyotrophy, Fourth heart sound, Right axis deviation, Type ...	OMIM:255160
Combined Oxidative Phosphorylation Deficiency 14	Cerebral atrophy, EEG abnormality, Atrophy/Degeneration affecting the brainstem, Diffuse cerebral...	OMIM:614946
Postsynaptic Congenital Myasthenic Syndromes	Shoulder girdle muscle weakness, Type 1 muscle fiber predominance, Triceps weakness, Skeletal mus...	ORPHA:98913
Metachromatic Leukodystrophy	Peripheral demyelination, Optic atrophy, Decreased nerve conduction velocity	OMIM:250100
Spastic Paraplegia 11, Autosomal Recessive	Lower limb muscle weakness, Skeletal muscle atrophy, Decreased number of peripheral myelinated ne...	OMIM:604360
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Distal amyotrophy, Atrophy of the spinal cord, Decreased amplitude of sensory action potentials, ...	OMIM:256840
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity	ORPHA:1368
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities...	OMIM:253601
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Motor axonal neuropathy, Sensory axonal neuropathy, Cardiomyopathy, EMG: myopathic abnormalities,...	ORPHA:52430
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Leigh Syndrome	Optic atrophy, Gliosis, CNS demyelination	OMIM:256000
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skeletal muscle, Z-band...	OMIM:618823
Infantile Neuroaxonal Dystrophy	Diffuse axonal swelling, Abnormal autonomic nervous system physiology, Peripheral axonal neuropat...	ORPHA:35069
Cerebrotendinous Xanthomatosis	Global brain atrophy, Optic neuropathy, Tendon xanthomatosis, Abnormality of the Achilles tendon,...	ORPHA:909
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Cerebral atrophy, Facial diplegia, EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-r...	OMIM:609560
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormal peripheral ...	ORPHA:168563
Leber Optic Atrophy	Optic neuropathy, Arrhythmia, Optic atrophy, Myopathy	OMIM:535000
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce...	OMIM:154275
Alzheimer Disease 9, Susceptibility To	Senile plaques, Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy	OMIM:608907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atroph...	OMIM:606612
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Intrinsic hand muscle atrophy, Di...	ORPHA:101076
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe...	OMIM:615422
Congenital Myopathy 3 With Rigid Spine	Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ...	OMIM:602771
Multifocal Motor Neuropathy	Motor conduction block, Limb muscle weakness, Weakness of long finger extensor muscles	ORPHA:641
Progressive Non-Fluent Aphasia	Senile plaques, Astrocytosis, Temporal cortical atrophy, Abnormal lower motor neuron morphology, ...	ORPHA:100070
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Neurofibrillary tangles	OMIM:606688
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Senile plaques, Neurofibrillary tangles	DECIPHER:48
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Autosomal Spastic Paraplegia Type 58	Torticollis, Cerebral atrophy, Distal amyotrophy, Peripheral demyelination, Cerebellar atrophy	ORPHA:397946
Spastic Ataxia 5, Autosomal Recessive	Lower limb muscle weakness, Distal amyotrophy, Increased intramyocellular lipid droplets, Cerebel...	OMIM:614487
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Myopathy, Weakness of facial musculature, Arrhythmia, Dilated cardiomyopathy, Generalized amyotro...	ORPHA:352447
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Decreased nerve conduction velocity, Congenital contracture, Centrally nucle...	OMIM:615368
Congenital Myopathy 2A, Typical, Autosomal Dominant	Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline bodies, Facial palsy, Di...	OMIM:161800
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce...	OMIM:154276
Huntington Disease-Like 1	Cerebellar atrophy, EEG abnormality, Gliosis, Cerebral cortical atrophy	ORPHA:157941
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myopathy	OMIM:158800
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy,...	ORPHA:298
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Joint contr...	OMIM:610099
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Myopathy	ORPHA:2598
Glycogen Storage Disease Iii	Distal amyotrophy, Cardiomyopathy, Myopathy	OMIM:232400
Lipodystrophy, Familial Partial, Type 6	Myopathy, Lower limb muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Hypertension	OMIM:615980
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased variability in muscle fiber di...	ORPHA:119
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Skeletal muscle hypertrophy, Myopathy	ORPHA:2349
Duchenne And Becker Muscular Dystrophy	Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Myopathy	ORPHA:262
Autosomal Recessive Spastic Paraplegia Type 35	Pontocerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Periph...	ORPHA:171629
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb amyotrophy, Cerebral hypomyelination, Abnormal myelination, Abnormal morphology of mus...	ORPHA:280210
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Macroglossia, Left ventricular systolic dysfunction, EMG: myopathic abnormalities, Right ventricu...	ORPHA:353
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Gliosis, Congenital contracture, Cerebral cortical atrophy	OMIM:277470
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Intrinsic hand muscle atrophy, Wrist drop, Distal amyotrophy, Decreased amplitude of sensory acti...	OMIM:616688
Combined Oxidative Phosphorylation Defect Type 39	Hypsarrhythmia, Cerebral atrophy, Congenital foot contractures, Limb hypertonia, EEG abnormality,...	ORPHA:565624
Severe Neurodegenerative Syndrome With Lipodystrophy	Cerebral atrophy, Myopathy, Hypertension, Neuronal loss in central nervous system, Caudate atrophy	ORPHA:363400
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity, Cerebellar atrophy	OMIM:159550
Myofibrillar Myopathy 11	Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z...	OMIM:619178
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Myopathy, Weakness of facial musculature, Atrophy/Degeneration affect...	ORPHA:98673
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neuronal loss in central nervous system, Gliosis, Neurofibrillary tangles, Cerebral cortical atrophy	OMIM:607485
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Senile plaques, Neurofibrillary tangles	OMIM:605055
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Diffuse cerebral atrophy, Peripheral demyelination, Gliosis, Axonal loss	OMIM:252160
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, S...	ORPHA:57
Peho Syndrome	Hypsarrhythmia, Peripheral dysmyelination, Neuronal loss in central nervous system, Optic atrophy...	OMIM:260565
De Sanctis-Cacchione Syndrome	Global brain atrophy, Cerebral atrophy, Telangiectasia, Axonal degeneration, Optic atrophy, Leuko...	OMIM:278800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle muscle weakness, Myopathy	OMIM:615156
Neuronal Intranuclear Inclusion Disease	Decreased sensory nerve conduction velocity, Syncope, Decreased motor nerve conduction velocity	OMIM:603472
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	CNS hypomyelination, Atrophy/Degeneration affecting the brainstem, Skeletal muscle atrophy, Diffu...	OMIM:617193
Sengers Syndrome	Cardiac arrest, Pulmonary arterial hypertension, Myopathy, Sudden cardiac death, Hypertrophic car...	OMIM:212350
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal nerve conduction velocity	ORPHA:93476
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Distal amyotrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, A...	OMIM:601152
Muscle-Eye-Brain Disease	EEG abnormality, Optic atrophy, Myopathy	ORPHA:588
Congenital Myopathy 16	Flexion contracture, EMG: myopathic abnormalities, Scapular winging	OMIM:618524
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Global brain atrophy, Amyotrophic lateral sclerosis	OMIM:619132
Myofibrillar Myopathy 10	Prolonged QTc interval, Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic ab...	OMIM:619040
Spinocerebellar Ataxia 25	Cerebellar atrophy, Facial myokymia, Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Weakness of facial musculature, Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy	ORPHA:254875
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Decreased compound muscle action potential amplitude, Cerebral cort...	OMIM:606353
Multiple Sulfatase Deficiency	Cerebellar atrophy, Peripheral demyelination, CNS demyelination, Cerebral atrophy	OMIM:272200
Typical Nemaline Myopathy	Facial diplegia, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Facial palsy, Foot ...	ORPHA:171436
Marinesco-Sjogren Syndrome	Myopathy, Cerebellar cortical atrophy, Skeletal muscle atrophy, Centrally nucleated skeletal musc...	OMIM:248800
Myopathy Due To Myoadenylate Deaminase Deficiency	Rhabdomyolysis, Skeletal muscle atrophy, Myopathy	OMIM:615511
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Giant Axonal Neuropathy 1, Autosomal Recessive	Motor axonal neuropathy, Sensory axonal neuropathy, Distal amyotrophy, Decreased number of periph...	OMIM:256850
Molybdenum Cofactor Deficiency, Complementation Group A	Peripheral demyelination, Gliosis, Axonal loss, Cerebral atrophy	OMIM:252150
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Shoulder girdle muscle weakness, Decreased muscle ...	ORPHA:263297
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Joint contracture	OMIM:615419
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Late-Infantile/Juvenile Krabbe Disease	EEG with persistent abnormal rhythmic activity, Abnormal CNS myelination, Decreased nerve conduct...	ORPHA:206443
Neuronopathy, Distal Hereditary Motor, Type X	Small thenar eminence, Fiber type grouping, Distal lower limb muscle weakness, Scapular winging, ...	OMIM:620080
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Glycogen Storage Disease X	Rhabdomyolysis, Myopathy	OMIM:261670
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Hypsarrhythmia, Cerebral atrophy, Left ventricular hypertrophy, Gliosis, Dilated cardiomyopathy, ...	OMIM:618321
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Cardiomyopathy, Nemaline bodies, Myopathy	OMIM:616549
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Fiber type grouping, Facial diplegia, Optic nerve hy...	OMIM:617302
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Minicore myopathy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Incr...	ORPHA:486815
Angioedema, Hereditary, 1	Axonal degeneration, Peripheral axonal neuropathy	OMIM:106100
Combined Oxidative Phosphorylation Defect Type 7	Facial diplegia, Lower limb muscle weakness, Distal amyotrophy, Skeletal muscle atrophy, Peripher...	ORPHA:254930
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Decreased motor nerve conduction velocity	OMIM:613724
Marinesco-Sjögren Syndrome	Myopathy, Muscular dystrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal ...	ORPHA:559
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacem...	OMIM:619790
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Hypsarrhythmia, EEG abnormality, Optic disc pallor, Decreased nerve conduction velocity, Optic at...	ORPHA:485421
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cerebral atrophy, Sensory axonal neuropathy, Arrhythmia, Cardiomyopathy, EMG: myopathic abnormali...	OMIM:609286
Neuropathy, Hereditary Sensory, Type Ie	Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Machado-Joseph Disease	Distal amyotrophy, Gliosis, Cerebellar atrophy, Abnormal autonomic nervous system physiology	OMIM:109150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Mitral regurgitation, Sensory axonal neuropathy, Weakness of facial musculature, Cardiomyopathy, ...	OMIM:258450
Neuropathy, Congenital Hypomyelinating, 3	CNS hypomyelination, Arthrogryposis multiplex congenita, Facial diplegia, Hypomimic face, Decreas...	OMIM:618186
Cardiomyopathy, Familial Hypertrophic, 4	Cardiac arrest, Reduced left ventricular ejection fraction, Myopathy, Syncope, First degree atrio...	OMIM:115197
Amish Nemaline Myopathy	Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder fle...	ORPHA:98902
Combined Oxidative Phosphorylation Deficiency 11	CNS hypomyelination, Myopathy, Cardiomyopathy, Delayed myelination, Cerebral cortical atrophy	OMIM:614922
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abnormal muscle fiber morpho...	ORPHA:75840
Carnitine Deficiency, Systemic Primary	Mitral regurgitation, Myopathy, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:212140
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Myocardial infarction, Gliosis	ORPHA:457240
Supranuclear Palsy, Progressive, 1	Senile plaques, Cerebral atrophy, Astrocytosis, Retrocollis, Neurofibrillary tangles, Gliosis, Gr...	OMIM:601104
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, Cerebellar atrophy	OMIM:618356
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor nerve conductio...	OMIM:619026
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,...	ORPHA:3208
Mcleod Syndrome	Rhabdomyolysis, Motor axonal neuropathy, Myopathy, Cardiomyopathy, Dilated cardiomyopathy, Atrial...	OMIM:300842
Hereditary Sensory And Autonomic Neuropathy Type 1	Motor axonal neuropathy, Distal amyotrophy, Decreased amplitude of sensory action potentials, Foo...	ORPHA:36386
Leigh Syndrome	Hypsarrhythmia, Sensory axonal neuropathy, Myopathy, Skeletal muscle atrophy, Multiple joint cont...	ORPHA:506
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Gliosis, Absent brainstem auditory responses	ORPHA:3240
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	EEG abnormality, Skeletal muscle atrophy, Myopathy	ORPHA:85329
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased sensory nerve conduction velocity, Cerebral atrophy, Atrophy/Degeneration affecting the...	OMIM:616192
Kanzaki Disease	Lip telangiectasia, Cerebral atrophy, Telangiectasia of the oral mucosa, Peripheral axonal neurop...	OMIM:609242
Myopathy, Centronuclear, 2	EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle...	OMIM:255200
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, ...	ORPHA:178148
Multiple Acyl-Coa Dehydrogenase Deficiency	Rhabdomyolysis, Arrhythmia, Cardiomyopathy, Skeletal muscle atrophy, Scapular winging, Gliosis, C...	ORPHA:26791
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Decreased nerve conduction velocity	ORPHA:1933
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Fiber type grouping, Myopathy, Sensory axonal neuropathy, Weakness of facia...	OMIM:607459
Charcot-Marie-Tooth Disease Type 1E	Distal lower limb amyotrophy, Peroneal muscle atrophy, Distal lower limb muscle weakness, Hand mu...	ORPHA:90658
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Cerebral atrophy, Subdural hemorrhage, Atrophy of the spinal cor...	ORPHA:79282
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in lower limbs, Type 1 muscle fiber predominance, EMG: myopathic abnorma...	ORPHA:169189
Danon Disease	Lower limb amyotrophy, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely...	OMIM:300257
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Cerebral atrophy, Myopathy	ORPHA:369847
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity, Cerebral cortical atrophy	OMIM:238970
Bethlem Myopathy	Limb-girdle muscle weakness, Camptodactyly of finger, Reduced muscle collagen VI, Muscular dystro...	ORPHA:610
Lissencephaly, X-Linked, 2	Gliosis	OMIM:300215
Synaptic Congenital Myasthenic Syndromes	Pulmonary arterial hypertension, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance...	ORPHA:98915
Lethal Ataxia With Deafness And Optic Atrophy	Spinal cord posterior columns myelin loss, EEG with focal epileptiform discharges, Decreased moto...	ORPHA:1187
Mannosidosis, Alpha B, Lysosomal	Macroglossia, Delayed myelination, Cerebellar atrophy, Gliosis, Corpus callosum atrophy, Cerebral...	OMIM:248500
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Autosomal Dominant Progressive External Ophthalmoplegia	Shoulder girdle muscle weakness, Facial diplegia, Hypomimic face, Left ventricular hypertrophy, M...	ORPHA:254892
Hyperkalemic Periodic Paralysis	Myopathy, Arrhythmia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Congestive heart fail...	ORPHA:682
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Decreased numb...	ORPHA:477817
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia, Skeletal muscle atrophy, Distal arthrogryposis, Myopathy	ORPHA:42
Melas	Abnormal mitochondria in muscle tissue, Pulmonary arterial hypertension, Concentric hypertrophic ...	ORPHA:550
Progressive Supranuclear Palsy	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy	ORPHA:683
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebral atrophy, Corneal neovascularization, EEG abnormality, Delayed myelination, Optic disc pa...	ORPHA:404454
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Delayed peripheral myelination, Abnormality of the musculature of the lower limbs, Cerebral atrophy	ORPHA:464282
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy	ORPHA:166002
Intellectual Developmental Disorder, X-Linked 12	Gliosis	OMIM:300957
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
Sialidosis Type 1	EEG abnormality, Skeletal muscle atrophy, Decreased nerve conduction velocity	ORPHA:812
Infantile Krabbe Disease	Abnormal heart rate variability, Shoulder girdle muscle weakness, Diffuse cerebral atrophy, Decre...	ORPHA:206436
Spinocerebellar Ataxia 1	Decreased sensory nerve conduction velocity, Distal amyotrophy, Skeletal muscle atrophy, Optic di...	OMIM:164400
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Abnormal autonomic nervous system physiology, Cerebellar vermis atrophy, Axonal loss, Cerebellar ...	OMIM:614575
Charcot-Marie-Tooth Disease Type 4B2

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