Gene: Gan MGI:1890619

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

giant axonal neuropathy

Synonyms:

gigaxonin

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 Gan 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 Gan (2 diseases)
Human diseases predicted to be associated with Gan (873 diseases)

The table below shows human diseases associated to Gan by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Giant Axonal Neuropathy		Spasticity, Falls, Difficulty walking, Limb muscle weakness, Abnormality of the Achilles tendon, ...	ORPHA:643
Giant Axonal Neuropathy 1, Autosomal Recessive		Spastic paraplegia, Distal amyotrophy, Proximal muscle weakness, Abnormal pyramidal sign, Steppag...	OMIM:256850

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

Disease	Matching phenotypes	Source
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy	OMIM:183020
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D...	ORPHA:399096
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, General...	OMIM:620285
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes...	OMIM:607641
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w...	ORPHA:98912
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Distal amyotrophy, Fasciculations, Tremor, Proximal muscle weakness, Loss of ambulation, Spinal m...	OMIM:182980
Oculopharyngodistal Myopathy	Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss, Tibialis mus...	ORPHA:98897
Amyotrophic Lateral Sclerosis 8	Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur...	OMIM:608627
Spastic Paraplegia 62, Autosomal Recessive	Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon...	OMIM:615681
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea...	ORPHA:399086
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Tip-toe gait, Shoulder gird...	ORPHA:2596
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	OMIM:620402
Distal Nebulin Myopathy	Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Slender build, Progre...	ORPHA:399103
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ...	ORPHA:59135
Distal Myotilinopathy	Distal amyotrophy, Difficulty walking, Progressive distal muscle weakness, Multiple joint contrac...	ORPHA:98911
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Spinal Muscular Atrophy, Type Iii	Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb...	OMIM:253400
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Fasciculations, Difficulty walking, Tremor, Spinal muscular atrophy, Cal...	OMIM:615048
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Lower limb muscle weakness, Fasciculations, Difficulty walking, Spinal muscular atrophy, Proximal...	OMIM:615575
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Desminopathy	Difficulty walking, Axial muscle weakness, Distal lower limb muscle weakness, Loss of ambulation,...	ORPHA:98909
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Lower limb muscle weakness, Dif...	ORPHA:2590
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Generalized-...	OMIM:159950
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ophthalmoparesis, Skeletal muscle atrophy, Generalized-onset seizure, Difficulty walking, Failure...	ORPHA:254875
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Tremor, Hip contracture, Progress...	ORPHA:98902
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Distal amyotrophy, Seizure, Fasciculations, Lower limb muscle weakness, Myoclonus, Ga...	OMIM:607317
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Distal Myopathy With Anterior Tibial Onset	Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li...	ORPHA:178400
Multifocal Motor Neuropathy	Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak...	ORPHA:641
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in upper limbs, Proximal muscle ...	ORPHA:276435
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno...	ORPHA:95434
Muscular Dystrophy, Congenital, With Or Without Seizures	Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Proximal m...	OMIM:620166
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper...	ORPHA:98896
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Skeletal muscle hypertrophy, Proximal muscle weaknes...	OMIM:611588
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Generalized muscle weakness, Distal lower limb mus...	ORPHA:254361
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Leg...	ORPHA:391411
Bethlem Muscular Dystrophy	Difficulty walking, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture...	ORPHA:610
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne...	OMIM:615290
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia, Generalized myoclonic...	OMIM:545000
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress...	OMIM:609452
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Fasciculations, Distal lower limb amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Ste...	OMIM:606595
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,...	OMIM:248800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in lower limbs, Spasticity, Proximal muscle weakness in upper limbs, Inc...	OMIM:613954
Epilepsy, Progressive Myoclonic, 9	Generalized amyotrophy, Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizur...	OMIM:616540
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Generalized muscle weakness, Tor...	ORPHA:98810
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ...	ORPHA:309169
Developmental And Epileptic Encephalopathy 37	Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti...	OMIM:616981
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, D...	ORPHA:240094
Developmental And Epileptic Encephalopathy 69	Congenital contracture, Inability to walk, Myoclonus, Hyperkinetic movements, Status epilepticus,...	OMIM:618285
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor, Generalized ...	ORPHA:2589
Combined Oxidative Phosphorylation Deficiency 49	Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers	OMIM:619024
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Generalized amyotrophy, Facial dipl...	ORPHA:169186
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Seizure, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive ex...	OMIM:609286
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure	OMIM:618425
Arts Syndrome	Progressive muscle weakness, Tetraplegia, Seizure, Ataxia	OMIM:301835
Infantile Refsum Disease	Spasticity, Failure to thrive, Seizure, Progressive muscle weakness, Ataxia, Facial palsy	ORPHA:772
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Lower limb muscle weakness, Distal lower limb amyotrophy, Limb fasciculations, Steppage gait, Upp...	ORPHA:99940
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia...	ORPHA:725
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy, Muscle weakness, Fasciculations	ORPHA:85162
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil...	OMIM:613721
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre...	OMIM:157640
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Seizure, Difficulty walking, Chorea, Myopathy, Hyperkinetic movem...	ORPHA:369847
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Abnormal posturing, Seizure, Tip-toe gait, Inability to walk, Opisthotonus, Gait dist...	ORPHA:216866
Huntington Disease-Like 1	Involuntary movements, Abnormal posturing, Seizure, Incoordination, Chorea, Gait ataxia, Simultan...	ORPHA:157941
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia, Distal muscle weakness	OMIM:615957
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Failure to thrive, Seizure, Fasciculations, Incoordination, Abnormality ...	ORPHA:309162
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Proximal muscle weakness...	ORPHA:300605
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Gait imbalance, Myoclonus, Proximal muscle weakness, Bilateral tonic-clonic seizure, Ata...	OMIM:301020
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator...	ORPHA:663
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Ophthalmoparesis, Incoordination, Difficulty walking, Chorea, Myoclonus,...	OMIM:500003
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism...	OMIM:162350
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki...	OMIM:619911
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Failure to thrive, Myoclonus...	OMIM:620145
Coenzyme Q10 Deficiency, Primary, 1	Seizure, Myoclonus, Ragged-red muscle fibers, Tremor, Loss of ambulation, Decreased level of coen...	OMIM:607426
Isolated Succinate-Coq Reductase Deficiency	External ophthalmoplegia, Spasticity, Spastic paraparesis, Generalized muscle weakness, Proximal ...	ORPHA:3208
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Epilepsy, Progressive Myoclonic, 6	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T...	OMIM:614018
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Seizure, Slender build, Ragged-red muscle fibers, Generalized muscle weakness, Progressive extern...	OMIM:613662
Huntington Disease-Like 2	Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss	ORPHA:98934
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Dystonia 31	Difficulty walking, Parkinsonism, Abnormal posturing	OMIM:619565
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi...	OMIM:611302
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Bilateral tonic-clonic seizure...	OMIM:616230
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Monomelic Amyotrophy	Muscle weakness, Fasciculations, Distal upper limb amyotrophy, Tremor, Degeneration of anterior h...	ORPHA:65684
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements...	OMIM:618497
Dk1-Cdg	Failure to thrive, Seizure, Infantile spasms, Progressive muscle weakness, Bilateral tonic-clonic...	ORPHA:91131
Valinemia	Hyperkinetic movements, Failure to thrive, Muscle weakness	OMIM:277100
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Immunoneurologic Disorder, X-Linked	Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age	OMIM:300076
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Upper limb muscle weakness, Lower limb muscle weakness, Tetraparesis, Failure to thri...	ORPHA:225154
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor	OMIM:611092
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Myoclonus, Seizure, Ataxia	OMIM:600143
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Proximal muscle weakness, Generalized t...	OMIM:612016
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Myoclonus, Babinski...	OMIM:619065
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemipl...	ORPHA:225147
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Seizure, Akinesia, Myoclonus, Tremor, Rigid...	OMIM:606693
Juvenile Huntington Disease	Broad-based gait, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, Ataxia, Bradyki...	ORPHA:248111
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Distal amyotrophy, Fasciculations, Incoordination, Difficulty walking, Gait ataxia, Foot dorsifle...	OMIM:616688
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy, Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations	OMIM:608030
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Myoclonic seizure, Seizure, Polymicrogyria, Inability to walk, Epileptic spasm, Chore...	OMIM:614254
Hemimegalencephaly	Seizure, Oculomotor nerve palsy, Polymicrogyria, Epileptic spasm, Gray matter heterotopia, Myoclo...	ORPHA:99802
Epilepsy, Progressive Myoclonic, 11	Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu...	ORPHA:561854
Frontotemporal Dementia With Motor Neuron Disease	Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abn...	ORPHA:275872
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s...	OMIM:615362
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto...	OMIM:602099
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:619733
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy, Muscle weakness, Fasciculations	ORPHA:84142
Spinocerebellar Ataxia Type 37	Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy...	ORPHA:363710
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson...	OMIM:605407
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L...	ORPHA:209335
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis	OMIM:125370
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Proximal musc...	OMIM:205100
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Spastic paraplegia, Tongue fasciculations, Limb fasciculations, Generalized muscle weakness, Babi...	ORPHA:329475
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot...	OMIM:204300
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal amyotrophy, Fasciculations, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Dista...	OMIM:600882
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to...	OMIM:617493
Combined Saposin Deficiency	Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure	OMIM:611721
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet...	OMIM:151800
Amyotrophic Lateral Sclerosis 16, Juvenile	Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness	OMIM:614373
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Seizure, Slender build, Myoclonus, Limb tremor, Hypertonia, Focal tonic seizure, Distal muscle we...	OMIM:300699
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response...	ORPHA:314632
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Ataxia	OMIM:617829
Autosomal Recessive Spastic Paraplegia Type 48	Broad-based gait, Progressive spastic paraplegia, Lower limb muscle weakness, Myoclonus, Parkinso...	ORPHA:306511
Autosomal Spastic Paraplegia Type 58	Spasticity, Distal amyotrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,...	ORPHA:397946
Huntington Disease	Involuntary movements, Decreased body mass index, Seizure, Difficulty walking, Inability to walk,...	ORPHA:399
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations, Loss of ambulation, Muscle ...	OMIM:613435
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait	OMIM:610090
Perioral Myoclonia With Absences	Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon...	ORPHA:139426
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle ...	OMIM:600462
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Distal amyotrophy, Lower limb muscle weaknes...	OMIM:614487
Spastic Paraplegia 70, Autosomal Recessive	Spasticity, Skeletal muscle atrophy, Fasciculations, Ankle clonus, Achilles tendon contracture	OMIM:620323
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of...	ORPHA:13
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Failure to thrive, Seizure, Myoclonus, Dysmetria	OMIM:618251
Dystonia 23	Head tremor, Gait disturbance, Myoclonus, Torticollis	OMIM:614860
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Distal amyotrophy, Lower limb muscle weaknes...	ORPHA:313772
Developmental And Epileptic Encephalopathy 40	Spasticity, Small for gestational age, Seizure, Myoclonus, Spastic tetraparesis, Choreoathetosis	OMIM:617065
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction	ORPHA:401901
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Poor head control, Myoclonus, Failure to thrive, Tremor	OMIM:619651
Amyotrophic Lateral Sclerosis 18	Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness	OMIM:614808
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Limb muscle weakness, Muscle weakness, Amyotrophic lateral sclerosis, Fasciculations	OMIM:619141
Lennox-Gastaut Syndrome	Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,...	ORPHA:2382
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Proximal muscle weakness, Gait disturbance, Proximal amyotrophy, Tet...	OMIM:604484
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Distal amyotrophy, Congenital contracture, Muscle weakness, Hand tremor, F...	OMIM:607596
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Neck muscle weakness, Myoclonus, Facial myokymia, ...	OMIM:606703
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis	OMIM:615426
Amyotrophic Lateral Sclerosis 4, Juvenile	Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl...	OMIM:602433
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral t...	OMIM:619028
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness	OMIM:614885
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va...	OMIM:620138
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Bilateral tonic-cl...	OMIM:618093
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Triosephosphate Isomerase Deficiency	Spasticity, Skeletal muscle atrophy, Failure to thrive, Tremor, Myopathy, Progressive muscle weak...	OMIM:615512
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Distal amyotrophy, Tip-toe gait, Fasciculations, Foot dorsiflexor weakness, Steppage gait, Distal...	OMIM:614436
Myoclonic-Atonic Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli...	OMIM:616421
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Skeletal muscle atrophy, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Seizure, Myoclonus, Limb muscle weakness, Tremor, Bulbar palsy, Cachexia...	ORPHA:97229
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Facial diplegia, Foot ...	ORPHA:329478
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	External ophthalmoplegia, Failure to thrive, Seizure, Gait ataxia, Cachexia, Weight loss, Status ...	OMIM:612075
Dravet Syndrome	Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni...	ORPHA:33069
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neur...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neur...	OMIM:616437
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Myopathy, Axial muscle weakness, Cachexia, Gait disturbance, Poor head c...	ORPHA:157973
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia	OMIM:619191
Amyotrophic Lateral Sclerosis 1	Spasticity, Skeletal muscle atrophy, Muscle weakness, Amyotrophic lateral sclerosis, Pseudobulbar...	OMIM:105400
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Abnormality of the Achilles tendon, Progre...	ORPHA:98763
Spinocerebellar Ataxia Type 2	Ophthalmoparesis, Abnormal cortical gyration, Fasciculations, Chorea, Postural tremor, Gait ataxi...	ORPHA:98756
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor...	OMIM:612736
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo...	OMIM:615400
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	OMIM:616366
Developmental And Epileptic Encephalopathy 27	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil...	OMIM:616139
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Extrapyramidal dyskinesi...	ORPHA:71277
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness,...	ORPHA:79263
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Myoclonus-Dystonia Syndrome	Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus	ORPHA:36899
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochoki...	OMIM:256731
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure	OMIM:615127
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia	OMIM:615924
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Progressive muscle weakness, Joint contracture, Ataxia, Unsteady...	OMIM:615919
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic mov...	OMIM:271980
Congenital Fiber-Type Disproportion Myopathy	Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m...	ORPHA:2020
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Skeletal muscle atrophy, Failure to thrive, Seizure, Generalized-onset seizure, Inabi...	OMIM:612073
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Failure to thrive, Seizure, Limb muscle weakness, Progressive external ophthalmoplegia, Progressi...	OMIM:610131
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Inability to walk, Multiple joint contractures, Tremor, Babins...	OMIM:128100
Congenital Disorder Of Glycosylation, Type In	Spasticity, Failure to thrive, Seizure, Myoclonus, Ataxia	OMIM:612015
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor	ORPHA:86814
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Seizure, Tremor, Hyperkinetic movements, Abnormality of neuronal migration, Gait dist...	OMIM:300957
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Seizure, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, Babinsk...	OMIM:252011
Salt And Pepper Developmental Regression Syndrome	Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis	OMIM:609056
Spinocerebellar Ataxia, Autosomal Recessive 10	Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor	OMIM:613728
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Upper limb ...	OMIM:620538
Congenital Myopathy 9A	Tongue fasciculations, Akinesia, Obesity, EMG: myopathic abnormalities	OMIM:618822
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Seizure, Ataxia	OMIM:204500
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Neck ...	ORPHA:466768
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis	OMIM:123400
Baker-Gordon Syndrome	Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Athetoid cerebral palsy...	OMIM:618218
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Gerstmann-Straussler Disease	Spasticity, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Pa...	OMIM:137440
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Seizure, Myoclonus, Tremor, Proximal muscle weakness, Abnormal pyramidal sign, Progressive cerebe...	ORPHA:139485
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo...	OMIM:608105
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ...	OMIM:619574
Mohr-Tranebjaerg Syndrome	Intrinsic hand muscle atrophy, Spasticity, Abnormal posturing, Tremor	OMIM:304700
Postencephalitic Parkinsonism	Involuntary movements, Resting tremor, Seizure, Akinesia, Cogwheel rigidity, Rigidity, Generalize...	ORPHA:97349
Benign Familial Neonatal Epilepsy	Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni...	ORPHA:1949
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Failure to thrive, Seizure, Difficulty walking, Abnormality of...	ORPHA:442835
Mitochondrial Complex I Deficiency, Nuclear Type 28	Failure to thrive, Generalized-onset seizure, Akinesia, Lower limb spasticity, Abnormal pyramidal...	OMIM:618249
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ...	ORPHA:726
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Skeletal muscle atrophy, Limb myoclonus, Hand tremor, Fasciculations, Diff...	ORPHA:276198
Alexander Disease Type I	Spasticity, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, Ataxia, Palatal tremor	ORPHA:363717
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Fasciculations, Shoulder girdle muscle weakness, Difficulty walking, Neck muscle...	ORPHA:98908
Aids Wasting Syndrome	Cachexia, Weight loss, Skeletal muscle atrophy	ORPHA:90081
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Seizure, Epileptic spasm, Myoclonus, Ataxia, Erratic myoclonus, Spastic tetraplegia	OMIM:619971
Spinocerebellar Ataxia 17	Broad-based gait, Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Park...	OMIM:607136
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Retrocollis, Myoclonus, Tremor, Gait disturbance, Torticollis	OMIM:617284
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Hypertonia, Choreoathetosis	OMIM:261630
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia	OMIM:254800
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Infantile spasms, Inability to walk	OMIM:618374
Spinocerebellar Ataxia 2	Spasticity, Distal amyotrophy, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tr...	OMIM:183090
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn...	ORPHA:803
Spinocerebellar Ataxia With Epilepsy	Ophthalmoparesis, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmet...	ORPHA:254881
Pulmonary Blastoma	Weight loss	ORPHA:64741
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Spinal Muscular Atrophy, Ryukyuan Type	Proximal amyotrophy, Spinal muscular atrophy, Fasciculations	OMIM:271200
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv...	ORPHA:98773
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Polymicrogyria, Inability to walk, Myoclonus, Gait ataxia, Tr...	OMIM:618877
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Leg muscle stiffness, Fasciculations, Generalized-onset seizure, L...	ORPHA:284289
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress...	OMIM:607346
Dystonia 11, Myoclonic	Myoclonus, Tremor, Torticollis	OMIM:159900
Developmental And Epileptic Encephalopathy 103	Ataxia, Spastic tetraplegia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epilepti...	OMIM:619913
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	External ophthalmoplegia, Broad-based gait, Increased variability in muscle fiber diameter, Myopa...	OMIM:607459
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept...	ORPHA:289266
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Head tremor, Hand muscle atrophy, Flexion contracture of...	ORPHA:101085
Unilateral Polymicrogyria	Spastic tetraplegia, Involuntary movements, Abnormal posturing, Seizure, Pseudobulbar paralysis, ...	ORPHA:268943
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Left ve...	ORPHA:401866
Spinocerebellar Ataxia 36	Tongue fasciculations, Skeletal muscle atrophy, Fasciculations, Incoordination, Limb ataxia, Gait...	OMIM:614153
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Tre...	ORPHA:240071
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyramidal sign, Hypertonia, Poor h...	OMIM:308350
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Seizure, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:300894
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Seizure, Hyperkinetic movements, Gait disturbance, Hypertonia	OMIM:236270
Hsd10 Disease	Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis	ORPHA:391417
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Weakness...	ORPHA:52430
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia	OMIM:168605
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Facial diplegia, Paucity of ante...	OMIM:611890
Pontocerebellar Hypoplasia, Type 1D	Tongue fasciculations, Spasticity, Failure to thrive, Seizure, Fasciculations, Multiple joint con...	OMIM:618065
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal ...	ORPHA:352596
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Facial myokymia, Limb hypertonia	ORPHA:324588
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis...	OMIM:204200
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Seizure	ORPHA:397933
Thyrocerebrorenal Syndrome	Seizure, Myoclonus, Abnormality of the musculature of the limbs, Nonprogressive cerebellar ataxia...	ORPHA:3327
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram...	OMIM:607454
Early Myoclonic Encephalopathy	Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto...	ORPHA:1935
Pelizaeus-Merzbacher Disease, Connatal Form	Failure to thrive, Pachygyria, Difficulty walking, Inability to walk, Abnormal morphology of musc...	ORPHA:280210
Dystonia 3, Torsion, X-Linked	Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor	OMIM:314250
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Familial Infantile Myoclonic Epilepsy	Ataxia, Blepharospasm, Limb myoclonus, Seizure, Periventricular nodular heterotopia, Focal-onset ...	ORPHA:352582
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Skeletal muscle atrophy, Failure to thrive, Seizure, Loss of ambulation, Progre...	OMIM:256810
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Lower limb muscle weakness, Fasciculations, Generalized limb muscle atrophy, Facial diplegia, Foo...	ORPHA:521411
Myoclonic Epilepsy Of Infancy	Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb...	ORPHA:86909
Clcn4-Related X-Linked Intellectual Disability Syndrome	Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure, Chorea, Infantile spasms...	ORPHA:485350
Mitochondrial Complex I Deficiency, Nuclear Type 19	Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait disturbance, Athetosis	OMIM:618241
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Developmental And Epileptic Encephalopathy 16	Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil...	OMIM:615338
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Foot dorsiflexor weakness, Fasciculations	OMIM:137200
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Ophthalmoparesis, Tetraparesis, Fasciculations, Postural tremor, Dysmetria, A...	OMIM:615491
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ...	ORPHA:97355
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myoclonus, Rigidity,...	OMIM:617282
Bilateral Generalized Polymicrogyria	Spasticity, Generalized myoclonic seizure, Typical absence seizure, Spastic tetraplegia, Generali...	ORPHA:208447
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Abnormal upper motor neuron morphology, Decreased compound muscle a...	OMIM:606353
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Seizure, Myoclonus, Ataxia, Flexion contracture	OMIM:256730
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Distal amyotrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hyper...	OMIM:616505
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Seizure, Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia	OMIM:250620
Pontocerebellar Hypoplasia Type 4	Arthrogryposis multiplex congenita, Hypertonia, Myoclonus, Seizure	ORPHA:166063
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus...	OMIM:253310
Atypical Rett Syndrome	Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor...	ORPHA:3095
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Seizure, Myoclonus, Ataxia, Slurred speech	OMIM:274240
Leukodystrophy, Hypomyelinating, 10	Spasticity, Skeletal muscle atrophy, Failure to thrive, Seizure, Inability to walk, Hyperkinetic ...	OMIM:616420
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, Myoclonus, Babinski sign, Apraxia, Gait disturbance	OMIM:618193
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Bilateral tonic-clonic seizure, Overwe...	ORPHA:457240
Peho-Like Syndrome	Polymicrogyria, Myoclonus, Bilateral tonic-clonic seizure, Pachygyria, Status epilepticus, Lissen...	OMIM:617507
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Hypomimic face, Bradykinesia	OMIM:619862
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy	ORPHA:1216
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Episodic Ataxia Type 7	Hyperkinetic movements, Muscle weakness, Episodic ataxia	ORPHA:209970
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Focal impaired awareness seizure, Limb ataxia, Gait ataxia,...	OMIM:117360
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Seizure, Inability to walk, Diastasis recti, Progressive muscle weakness...	ORPHA:488632
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Ophthalmoparesis, Skeletal muscle atrophy, Fasciculations, Chorea,...	ORPHA:98755
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Increased body weight, Progressive muscle weakness, Limb...	ORPHA:79240
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Seizure, Myoclonus, Ataxia, Pachygyria	OMIM:620094
Tay-Sachs Disease	Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Inability to walk, Dysm...	ORPHA:845
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Seizure, Decreased body weight, Hyperkinetic movements, Ophthalmoplegia,...	OMIM:300243
Hyperekplexia 4	Seizure, Infantile spasms, Myoclonus, Distal arthrogryposis, Hypertonia, Camptodactyly, Flexion c...	OMIM:618011
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Frequent falls	OMIM:619647
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis	OMIM:233910
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Progres...	ORPHA:368
Spinocerebellar Ataxia Type 18	Skeletal muscle atrophy, Head tremor, Gait ataxia, Dysmetria, Titubation, Muscle weakness	ORPHA:98771
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Congenital Myopathy 12	Joint contracture of the hand, Akinesia, Respiratory insufficiency due to muscle weakness, Campto...	OMIM:612540
Christianson Syndrome	Decreased muscle mass, Generalized-onset seizure, Gait ataxia, Ophthalmoplegia, Cachexia, Truncal...	ORPHA:85278
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Huntington Disease-Like 2	Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia	OMIM:606438
Spinocerebellar Ataxia 1	Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Fasciculations, Chorea, Limb ataxia, Dysm...	OMIM:164400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Febrile seizure (within the age range of 3 months to 6 years), Fatigable...	ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ophthalmoplegia, Ataxia	OMIM:618225
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Ophthalmoparesis, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia,...	ORPHA:101
Alexander Disease	Spasticity, Seizure, Dysmetria, Babinski sign, Ataxia, Palatal tremor	OMIM:203450
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Spasticity, Skeletal muscle atrophy, Seizure, Gait ataxia, Hyperkinetic movements, Babinski sign,...	OMIM:620089
Pontocerebellar Hypoplasia, Type 4	Spasticity, Congenital contracture, Seizure, Myoclonus, Hypertonia	OMIM:225753
Narp Syndrome	Seizure, Proximal muscle weakness, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia	ORPHA:644
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Failure to thrive, Seizure, Akinesia, Generalized tonic seizure, Hyper...	OMIM:619147
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize...	OMIM:619092
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
Machado-Joseph Disease Type 3	Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ...	ORPHA:276244
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Chorea, Myoclonus, Athetosis, Clonic seizure	OMIM:617235
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Failure to thrive, Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hypertonia, At...	OMIM:618356
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston...	ORPHA:280219
Dystonia 6, Torsion	Myoclonus, Torticollis	OMIM:602629
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Gait ...	ORPHA:306682
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Failure to thrive, Increased body weight, Progressive muscle weakness, I...	ORPHA:264580
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Seizure, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia, G...	OMIM:221770
Hereditary Hyperekplexia	Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia	ORPHA:3197
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Myopa...	ORPHA:363400
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Machado-Joseph Disease	External ophthalmoplegia, Spasticity, Distal amyotrophy, Facial-lingual fasciculations, Fascicula...	OMIM:109150
Optic Atrophy 11	Increased variability in muscle fiber diameter, Seizure, Facial diplegia, Dysmetria, Hyperkinetic...	OMIM:617302
Cog8-Cdg	Skeletal muscle atrophy, Failure to thrive, Seizure, Myoclonus, Ataxia, Poor head control	ORPHA:95428
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Seizure, Failure to thrive in infancy, Epileptic spasm, Myoclonus, Kne...	ORPHA:284417
Epilepsy With Eyelid Myoclonia	Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of...	ORPHA:139431
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, External ophthalmoplegia, Ophthalmoparesis, Increased variability in muscle fibe...	OMIM:164310
Autosomal Recessive Ataxia, Beauce Type	Ophthalmoparesis, Spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Fasciculations...	ORPHA:88644
Developmental And Epileptic Encephalopathy 68	Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response, Flexion contractu...	OMIM:618201
Chronic Hiccup	Weight loss, Abnormality of the diaphragm	ORPHA:396
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo...	ORPHA:282166
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal...	OMIM:615859
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Parkinsonism with favorable res...	ORPHA:411602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Seizure, Difficulty walking, Speech apraxia, Chorea, Inability to...	OMIM:615356
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Pontocerebellar Hypoplasia, Type 1E	Elbow flexion contracture, Myoclonus, Knee flexion contracture	OMIM:619303
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Parkinsonism, Nocturnal seizures, Bilateral...	OMIM:619725
Idiopathic Achalasia	Weight loss	ORPHA:930
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:105550
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia	OMIM:619738
Amyotrophy, Monomelic	Interosseus muscle atrophy, Upper limb muscle weakness, Cold paresis, Fasciculations	OMIM:602440
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ...	ORPHA:101150
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram...	OMIM:613135
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Seizure, Inability to walk, Myoclonus, Clumsiness, Paraparesis, Low...	OMIM:617854
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei...	OMIM:610539
Hyperkalemic Periodic Paralysis	Ophthalmoparesis, Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic ...	ORPHA:682
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Seizure, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor funct...	ORPHA:79279
Autosomal Recessive Spastic Paraplegia Type 77	Seizure, Progressive spastic paraplegia, Myoclonus, Loss of ambulation, Babinski sign, Scissor ga...	ORPHA:466722
Hsd10 Disease, Infantile Type	Poor coordination, Seizure, Hyperkinetic movements, Loss of ambulation, Poor head control, Spasti...	ORPHA:391428
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand...	ORPHA:53351
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Glycogen Storage Disease Due To Acid Maltase Deficiency	Failure to thrive, Lower limb muscle weakness, Difficulty walking, Inability to walk, Flexion con...	ORPHA:365
Gerstmann-Straussler-Scheinker Syndrome	Gait ataxia, Limb myoclonus, Lower limb muscle weakness, Abnormality of extrapyramidal motor func...	ORPHA:356
Poliomyelitis	Hypoplasia of the musculature, Skeletal muscle atrophy, Muscle flaccidity, Lower limb muscle weak...	ORPHA:2912
Neutral Lipid Storage Disease With Ichthyosis	Shoulder girdle muscle weakness, Difficulty walking, Myopathy, Increased intramyocellular lipid d...	ORPHA:98907
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Limb muscle weakness, Tremor, Bulbar palsy, Calf muscle hypertrophy	OMIM:313200
Mepan Syndrome	Spasticity, Failure to thrive, Chorea, Myoclonus, Gait disturbance, Ataxia, Muscle weakness	ORPHA:508093
Focal Myositis	Myositis, Weight loss, Muscle weakness	ORPHA:48918
Ataxia-Telangiectasia-Like Disorder	Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Frequent...	ORPHA:251347
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hypertonia, Clonic s...	OMIM:617290
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the musculature, Seizure, Polymicrogyria, Akinesia, Joint contracture	OMIM:225790
Multicentric Reticulohistiocytosis	Cachexia, Muscle weakness	ORPHA:139436
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Seizure, Myoclonus, Ataxia, Slurred speech	OMIM:230650
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit...	ORPHA:48818
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multipl...	OMIM:619334
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Spasticity, Seizure, Febrile seizure (within the ...	OMIM:612949
Alzheimer Disease 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Apraxia, Optic a...	OMIM:607822
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, Inability to walk, Myocl...	ORPHA:168491
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali...	ORPHA:411986
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Seizure, Inability to walk, Failure to thrive in infancy, Hip contracture, Cachexia, ...	OMIM:616801
Spinocerebellar Ataxia Type 13	Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradyk...	ORPHA:98768
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Failure to thrive, Epileptic spasm, Myoclonus, Decreased body weight, Poor head control	OMIM:619060
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonic seizure, Failure to thrive, Seizure, Infantile spasms, Myoclonus...	OMIM:620352
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension	OMIM:263570
Gaucher Disease, Type Iii	Spastic paraparesis, Myoclonus, Decreased body weight, Ataxia, Generalized myoclonic seizure	OMIM:231000
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus, Seizure	OMIM:610992
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Skeletal muscle atrophy, Seizure, Ataxia	ORPHA:1933
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Ophthalmoplegia, Gait disturbance...	OMIM:301310
Spinocerebellar Ataxia 34	Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ...	OMIM:133190
Infantile Krabbe Disease	Spasticity, Failure to thrive, Seizure, Shoulder girdle muscle weakness, Neck muscle weakness, My...	ORPHA:206436
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy	OMIM:215470
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Seizure, Episodic ataxia, Myoclonus, Tremor, Choreoathetosis	OMIM:312170
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait, Status epilepticus	ORPHA:79096
O'Sullivan-Mcleod Syndrome	Upper limb muscle weakness, Cold paresis, Hand muscle weakness, Fasciculations, Tremor, Intrinsic...	ORPHA:99965
Sialidosis Type 1	Skeletal muscle atrophy, Seizure, Myoclonus, Tremor, Gait disturbance, Ataxia, Muscle weakness, S...	ORPHA:812
Spinocerebellar Ataxia 13	Spasticity, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyramidal sign, Progres...	OMIM:605259
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Limb muscle weakness, Rigidity, Babinski sign, Ataxia, Palatal t...	ORPHA:363722
Brody Disease	Skeletal muscle hypertrophy, Flexion contracture, Muscle weakness, Fasciculations	OMIM:601003
Spastic Tetraplegia And Axial Hypotonia, Progressive	Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype...	OMIM:618598
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Failure to thrive, Seizure, Polymicrogyria, Myoclonus, Rigidity	OMIM:300673
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Rhabdomyolysis, Periodic paralysis, Muscle weakness	OMIM:188580
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis	OMIM:619724
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Akinesia, Skeletal muscle atrophy	OMIM:607598
Pelizaeus-Merzbacher Disease	Spasticity, Seizure, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Choreoathe...	ORPHA:702
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms...	OMIM:614498
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Combined Oxidative Phosphorylation Deficiency 51	Myoclonus, Small for gestational age, Rigidity	OMIM:619057
Schindler Disease, Type I	Spasticity, Myoclonus, Seizure, Generalized amyotrophy	OMIM:609241
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Machado-Joseph Disease Type 1	Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ...	ORPHA:276241
Behavioral Variant Of Frontotemporal Dementia	Fasciculations, Abnormality of extrapyramidal motor function, Gait disturbance, Bilateral tonic-c...	ORPHA:275864
Flynn-Aird Syndrome	Cachexia, Skeletal muscle atrophy, Seizure, Ataxia	ORPHA:2047
Rett Syndrome	Spasticity, Skeletal muscle atrophy, Seizure, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia	OMIM:312750
Moynahan Syndrome	Cachexia, Seizure	ORPHA:2574
Developmental And Epileptic Encephalopathy 101	Seizure, Myoclonus, Opisthotonus, Poor head control, Limb joint contracture	OMIM:619814
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Myoclonic seizure, Failure to thrive, Infantile spasms, Myoclonus, Opisthotonus, Toni...	OMIM:615851
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Skeletal muscle atrophy, Seizure, Myoclonu...	OMIM:614969
Mitochondrial Neurogastrointestinal Encephalomyopathy	External ophthalmoplegia, Ophthalmoparesis, Decreased muscle mass, Foot dorsiflexor weakness, Rag...	ORPHA:298
Neuraminidase Deficiency	Skeletal muscle atrophy, Seizure, Myoclonus, Dysmetria, Muscle weakness, Slurred speech	OMIM:256550
Lafora Disease	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ...	ORPHA:501
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Babinski sign, Gait disturbance, Myoclonus, Rigidity	OMIM:600795
Glycine Encephalopathy 1	Myoclonus, Seizure	OMIM:605899
Leigh Syndrome	Spasticity, Involuntary movements, Skeletal muscle atrophy, Muscle weakness, Seizure, Failure to ...	ORPHA:506
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Spastic tetraplegia, Small for gestational age, Seizure, Febrile seizure (within the ...	OMIM:619847
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Decreased muscle mass, Akinesia, Tremor, Rigidity, Abnormality of extr...	OMIM:234200
Adult-Onset Cervical Dystonia, Dyt23 Type	Neck muscle hypertrophy, Difficulty walking, Head tremor, Myoclonus, Limb tremor, Torticollis, Un...	ORPHA:420492
Autosomal Recessive Spastic Paraplegia Type 75	Spastic paraplegia, Spasticity, Distal lower limb amyotrophy, Dysmetria, Babinski sign, Abnormal ...	ORPHA:459056
Sandhoff Disease	Ataxia, Spasticity, Myoclonic seizure, Skeletal muscle atrophy, Fasciculations, Bilateral tonic-c...	OMIM:268800
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements, Myoclonic seizure, Gait disturbance	OMIM:620469
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Myoclonus, Seizure	OMIM:616158
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Poor head c...	OMIM:614299
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive	OMIM:614857
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:607876
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Akinesia, Multiple joint contractures, Arthrogryposis multiplex congenit...	ORPHA:994
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Atonic seizure, Seizure, Inability to walk, Hyperkinetic movements, Lo...	OMIM:617799
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Seizure, Facial diplegia, Babinski sign, Cachexia, Hypomimic face, Limb joint contrac...	OMIM:618186
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea...	OMIM:617600
Adenylosuccinase Deficiency	Spasticity, Skeletal muscle atrophy, Seizure, Inability to walk, Hemiplegia, Myoclonus, Gait atax...	OMIM:103050
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture	OMIM:607225
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc...	OMIM:618060
Giant Axonal Neuropathy	Spasticity, Falls, Difficulty walking, Limb muscle weakness, Abnormality of the Achilles tendon, ...	ORPHA:643
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein, Seizure, Myoclonus, Parkinsonism, Oculomotor apr...	ORPHA:1020
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Flexion con...	OMIM:616271
X-Linked Creatine Transporter Deficiency	Seizure, Chorea, Cachexia, Hypertonia, Ataxia, Athetosis	ORPHA:52503
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
X-Linked Cerebral Adrenoleukodystrophy	Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Hamstring contractures, Dysmetria...	ORPHA:139396
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Failure to thrive, Myoclonus, Abnormality of extrapyramidal motor function, Opi...	OMIM:605711
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Seizure, Slender build, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Fac...	ORPHA:364028
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Failure to thrive, Generalized non-motor (absence) seizure, Fatigable ...	ORPHA:404454
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Myoclonic seizure, Failure to thrive, Seizure, Infantile spasms, Myoclonus, Knee flex...	OMIM:618076
Gm1 Gangliosidosis	Spasticity, Failure to thrive, Seizure, Camptodactyly of finger, Tremor, Abnormality of extrapyra...	ORPHA:354
Japanese Encephalitis	Muscle flaccidity, Opisthotonus, Paucity of anterior horn motor neurons, Focal motor seizure, Cho...	ORPHA:79139
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
Central Diabetes Insipidus	Weight loss, Failure to thrive, Seizure	ORPHA:178029
Microcephaly, Amish Type	Flexion contracture, Myoclonus, Limb hypertonia, Failure to thrive	OMIM:607196
Subependymal Nodular Heterotopia	Limb myoclonus, Seizure, Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotop...	ORPHA:101030
Fatal Familial Insomnia	Weight loss, Myoclonus, Ataxia	OMIM:600072
Wilson Disease	Proximal muscle weakness in lower limbs, Failure to thrive, Difficulty walking, Increased body we...	ORPHA:905
Microtriplication 11Q24.1	Hyperkinetic movements, Speech apraxia, Obesity	ORPHA:289522
Gaucher Disease, Perinatal Lethal	Seizure, Akinesia, Decreased body weight, Opisthotonus, Arthrogryposis multiplex congenita	OMIM:608013
Intellectual Developmental Disorder, Autosomal Dominant 42	Lower limb muscle weakness, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Ce...	OMIM:616973
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Seizure, Myoclonus, Gait disturbance, Macroglossia, Unsteady gait	ORPHA:412217
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Torticollis, Vocal tremor	ORPHA:420485
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