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Gene: Scn8a MGI:103169

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Gene Summary

Name:
sodium channel, voltage-gated, type VIII, alpha
Synonyms:
med,  seal,  motor end-plate disease,  nmf2,  ataxia 3,  mnd2,  mnd-2,  C630029C19Rik,  nmf58,  NaCh6,  Nav1.6,  nmf335,  NMF335,  nur14

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Scn8aem1(IMPC)Bay HET Early adult 3.73×10-06
increased spleen weight Scn8aem1(IMPC)Bay HET Early adult 6.88×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Scn8a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Scn8a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Infantile Convulsions And Choreoathetosis
Dystonia, Chorea, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Choreoathetosis ORPHA:31709
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Brain atrophy,... ORPHA:442835
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Attention deficit hyperactivity disorder, Generalized hypotonia, Ataxia OMIM:614306
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 13
Epileptic spasm OMIM:614558

The table below shows human diseases predicted to be associated to Scn8a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Mental Retardation, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Ataxia, Sensory, 1, Autosomal Dominant
Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark, Babinski sign OMIM:608984
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Generalized hypotonia, Abasia, Ataxia, Hypotonia OMIM:209100
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
X-Linked Spastic Paraplegia Type 34
Ankle clonus, Lower limb spasticity, Impaired vibration sensation in the lower limbs, Babinski si... ORPHA:171607
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Inability to walk, Difficulty walking, Scissor gait, Spasticity OMIM:615685
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Myoclonus, L... OMIM:602629
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Generalized hypotonia, Ataxia, Hypotonia OMIM:213000
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Spasticity, Ataxia, Rigidity, Hypotonia ORPHA:2672
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Distal muscle weakness, Falls, Distal sensory impairme... OMIM:614228
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Dystonia 15, Myoclonic
Writer's cramp, Dystonia, Myoclonus OMIM:607488
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Torticollis
Torticollis OMIM:189600
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia, Torticollis OMIM:611694
Normokalemic Periodic Paralysis
Myotonia, Periodic paralysis OMIM:170600
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Spasmus Nutans
Torticollis ORPHA:279882
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Neuronopathy, Distal Hereditary Motor, Type Vc
Chaddock reflex, Decreased compound muscle action potential amplitude, Thenar muscle atrophy, Dis... OMIM:619112
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Generalized hypotonia, Intention t... ORPHA:94122
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Generalized hypotonia, Ataxia OMIM:618384
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Hypertonia, Abnormal pyramidal sig... OMIM:600361
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myoto... ORPHA:684
Cerebellar Ataxia, Cayman Type
Gait ataxia, Generalized hypotonia, Intention tremor, Broad-based gait, Hypotonia OMIM:601238
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Generalized hypotonia, Ataxia OMIM:617020
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Generalized hypotonia, Truncal ataxia, Unsteady gait, Dysmetria, Hypotonia OMIM:616127
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Seizure, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Toe walking, Spastic gait, Unsteady gait, Babinski sign ORPHA:320411
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis OMIM:118800
Mental Retardation, Autosomal Recessive 63
Inability to walk, Spasticity OMIM:618095
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Generalized hypotonia, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Dystonia 30
Dystonia, Loss of ability to walk, Writer's cramp, Torticollis, Leg dystonia, Arm dystonia, Oroma... OMIM:619291
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral hypomyelination, Axonal l... OMIM:611228
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Ataxia, Action tremor OMIM:300703
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Distal upper limb muscle weakness, Poor fine motor coordination, Toe walking, Impaired distal vib... ORPHA:435387
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Dist... OMIM:618912
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:616187
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Abnormal myelination, Distal lower limb amyotrophy, Abnormality of the Achill... ORPHA:431329
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Fatiguable weakness of proximal limb muscles, Spontaneous pain sensa... ORPHA:2932
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Ste... OMIM:302801
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Clumsiness, Steppage gait, Difficult... ORPHA:603
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Distal muscle weakness, Hypertrophic nerve changes, On... OMIM:601098
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Generalized amyotrophy, Myoclonus, Intent... ORPHA:2589
Seizures, Benign Familial Infantile, 2
Focal-onset seizure, Generalized-onset seizure OMIM:605751
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Axial dystonia, Dystonia, Blepharospasm, Laryngeal dystonia, Torticollis, Ge... ORPHA:306734
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Muscular hypotonia of the trunk, Unsteady gait, Frequent falls ORPHA:494526
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Myoclonic absence seizure, Atypical absence seizure OMIM:618596
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morphology, In... OMIM:162350
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Neonatal hypotonia,... OMIM:605253
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:600143
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morpho... OMIM:615362
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Primary Dystonia, Dyt6 Type
Dystonia, Blepharospasm, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis... ORPHA:98806
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal muscle weakness, Distal amyotrophy, Decreased nerve conduction velocity, Foot... OMIM:302802
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Muscle weakness, Gait ataxia, Generalized hypotonia, Decreased nerve conduction velocity, Spastic... OMIM:249900
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Neuropathy, Hereditary, With Liability To Pressure Palsies
Muscle weakness, Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental perip... OMIM:162500
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the trunk, Unsteady ... OMIM:616921
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets, Abnormal pyramidal sign, Ataxia, Seizure, Cere... OMIM:612016
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Steppage gait, Foot dorsiflexo... OMIM:607678
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Motor conduction block, Progressive muscle weakness, Fascicul... ORPHA:641
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Appendicular hypotonia, Ataxia, Hypotonia OMIM:619333
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Gait dist... ORPHA:276435
Glutathionuria
Tremor OMIM:231950
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... ORPHA:352675
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Hand muscle weakness, Abnormal motor nerve conduction velocity, Hand muscle atro... ORPHA:100998
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonge... OMIM:601596
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Int... OMIM:617964
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Seizure, Myoclonus, Myopathy, Generalized myoclonic seizure, Sp... OMIM:545000
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Difficulty walking, Lower limb muscle weakness, Tricep... OMIM:615575
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Steppage gait, Toe walking, Peripheral axonal degenera... OMIM:614436
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech ORPHA:98766
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function,... OMIM:615159
Hyperkalemic Periodic Paralysis
Myotonia, Periodic hyperkalemic paralysis OMIM:170500
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Ataxia-Microcephaly-Cataract Syndrome
Generalized hypotonia, Ataxia, Hypotonia OMIM:208870
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Impaired pain sensation, Gait disturbance, Ataxia, Distal muscle weakness, Decreased nerv... ORPHA:101078
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... ORPHA:98763
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Impaired tandem gait, Myoclonus, Dysme... OMIM:619028
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Distal upper limb muscle weakness,... ORPHA:90103
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Decreased motor nerve conduction velocity, Hand tremor, Difficulty walkin... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Diaphragmatic paralysis, Muscular dystrophy, Respiratory insufficie... OMIM:612954
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia OMIM:613720
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Hypotonia ORPHA:1397
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Paral... OMIM:605285
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Isolated Cerebellar Agenesis
Hypertonia, Ataxia, Hypotonia ORPHA:1398
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal muscle weakness, Distal amyotrophy, Peri... OMIM:608673
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Ankle clonus, Bradykinesia, Muscular hypotonia of the trunk, ... OMIM:617013
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Generalized hypotonia, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Oculo... OMIM:617384
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis OMIM:614820
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Generalized hypotonia, Frequent falls, Muscle fiber tubular inclusions, Ragged-... ORPHA:353327
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Gait disturbance, Hyperkinetic movements, Cerebral atrophy, Seizure, Cerebellar ... OMIM:616981
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Spast... ORPHA:101010
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea, Dystonia, Generalized hypotonia, Spasticity OMIM:613970
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Myoclonus, Hypotonia OMIM:159900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Proximal muscle weakness, Distal muscle weakness, Hand muscle atrophy, ... ORPHA:99944
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Gait disturbance, Lower limb muscle weakness, Abnormal motor evoked potentials... ORPHA:99939
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:118220
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Craniofacial dystonia, Laryngeal dystonia, Torticollis, ... OMIM:617284
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Myoclonus, Spasticity OMIM:617829
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Null Syndrome
Decreased nerve conduction velocity, Progressive spastic quadriplegia, Demyelinating peripheral n... ORPHA:280234
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle weakness, Thenar muscle atrophy, Distal l... ORPHA:139536
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Spinocerebellar Ataxia Type 11
Dystonia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance ORPHA:98767
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Muscular hypotonia of the trunk, Myoclonus, Babinski sign,... OMIM:607317
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 43
Generalized hypotonia, Spastic paraparesis, Flexion contracture of finger, Poor fine motor coordi... ORPHA:320370
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Seizure, Increased neuron... OMIM:204300
Myotonia Congenita, Autosomal Dominant
Percussion myotonia, Handgrip myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up pheno... OMIM:160800
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Flexion contracture, Decreased num... OMIM:607706
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Gait disturbance, Abnormal pyramidal sign, Somatic sensory dysfunction, Babin... ORPHA:357043
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Diaphragmatic paralysis, Hypotonia, Decreased nerve conduction velocity ORPHA:868
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Myoclonus, Infantile muscular h... OMIM:612736
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Generalized hypotonia, Segmental peripheral demyelinat... OMIM:145900
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Neonatal hypotonia, Pelvic girdle musc... ORPHA:2596
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Dementia, Splenomegaly ORPHA:2274
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination/remyelination, Segmental peripheral demyelination, Distal musc... OMIM:606483
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Rigidity, Spasticity ORPHA:385
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Scoliosis, Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal muscle weakness, Dis... OMIM:606595
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Tremor, Hand muscle weakness, Spastic paraparesis, Int... ORPHA:101077
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Choreoathetosis OMIM:104290
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal muscle weakness, Onion bulb formation, Peripher... OMIM:610100
Merrf
Ragged-red muscle fibers, Ataxia, Myopathy, Optic atrophy, Generalized myoclonic seizure ORPHA:551
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased sensory nerve conduction vel... ORPHA:101081
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure, R... OMIM:613869
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Monomelic Amyotrophy
Muscle weakness, Tremor, Degeneration of anterior horn cells, Abnormality of peripheral nerve con... ORPHA:65684
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Spinal muscular atrophy, Difficulty walking, Progressive distal muscular atrophy, Degener... OMIM:159950
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Weakness of the intrinsic hand m... ORPHA:98912
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Dystonia, Spastic ataxia OMIM:108600
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Distal upper limb muscle weakness, Limb ataxia, Progressive cereb... ORPHA:497764
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Muscular... OMIM:181350
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Torticollis, Myoclonus, Limb myoclonus ORPHA:36899
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Muscle weakness, Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity OMIM:611105
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Steppage gait, Hi... ORPHA:602
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle... ORPHA:34515
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Seizure, Myocl... OMIM:615924
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Chor... OMIM:125370
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Enhancement of the C-reflex OMIM:615127
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Tremor, Proximal amyotrophy, Neonatal hypotonia, Respiratory insuff... ORPHA:98902
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, Motor conduction bl... ORPHA:99953
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Pontocerebellar Hypoplasia, Type 1E
Cerebellar hypoplasia, Cerebellar atrophy, Myoclonus, Knee flexion contracture, Optic atrophy, El... OMIM:619303
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Distal amyotrophy, Dysm... OMIM:611302
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Tremor, Abnormal nerve conduction velocity, Paraparesis, Skeletal muscle hypertr... ORPHA:99014
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Respiratory insufficiency due to mu... OMIM:618184
Oculopharyngodistal Myopathy
Vocal cord paresis, Abnormality of facial musculature, Distal upper limb muscle weakness, Fatigab... ORPHA:98897
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Generalized hypotonia, Gait disturbance, Dysmetria, Hyperactivity, Rig... OMIM:618090
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Writer's cramp, Involuntary movements, Athetosis ORPHA:98809
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Peroneal muscle atrophy, Increased muscle lipid content... ORPHA:609
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Distal ... OMIM:607641
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Difficulty walking, L... ORPHA:399081
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Giant somatosensory evoked potenti... OMIM:613608
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Respiratory insufficiency, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, Impaired vib... ORPHA:3115
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Generalized neonatal hypotonia, Action tremor, Unsteady gait, Intenti... ORPHA:314978
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Pelvic girdle muscle weakness, Facial palsy, Scapulohumeral muscular dystrophy,... OMIM:158901
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb formation, Distal amyotrophy, De... OMIM:182815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Ventricular hypertrophy, Proximal amyotrophy, Muscular dystrophy, Calf muscle h... OMIM:601287
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral myelinated ... OMIM:604484
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Hypotonia, Ataxia, Spasticity OMIM:619228
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal motor nerve conduction velocity, Spastic tetraplegia, Failure to thrive, Decre... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Chorea, Spasticity, Hypotonia OMIM:616139
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Poor coordination, Ataxia, Broad-based gait OMIM:617665
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Myo... OMIM:614018
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia, Spasticity OMIM:203450
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Seizure, Increased... OMIM:204500
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Spastic paraplegia, Muscle weakness, Somatic sensory dysfunction, Babinski sig... OMIM:615658
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Ankle clonus, Bradykinesia, Infantile axial hypotonia, Progressive inability to... ORPHA:521406
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Decreased size of nerve terminals, Generalized hypotonia, Respiratory insu... OMIM:603034
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Generalized hypotonia, Difficulty walking, Progressive gait ataxia, Spasticity, Progr... ORPHA:284332
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Steppage gait, Flexion contracture, Lower limb muscle... OMIM:300695
Spastic Paraparesis And Deafness
Hearing impairment, Tremor, Spastic paraparesis OMIM:312910
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Intention tremor, Babinski sign, Decreased nerve conduction velo... ORPHA:98890
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:616421
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Parkinsonism, Involuntary movements ORPHA:98934
Dandy-Walker Syndrome
Truncal ataxia, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cereb... OMIM:220200
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Arthrogryposis multiplex congenita, Corpus callosum atrophy, Hyperki... OMIM:618285
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia OMIM:616267
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Leg muscle stiffness, Hypomimic face, Akinesia, Abnorma... ORPHA:391411
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluor... OMIM:256731
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Dista... OMIM:606482
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Parkinsonism, Babinski sign, Spasticity OMIM:610246
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:603511
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babinski sign, Dilated cardio... ORPHA:263494
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Lower limb spasticity, Spastic g... OMIM:607565
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Distal muscle weakness, Faci... OMIM:601382
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Developmental And Epileptic Encephalopathy 43
Generalized hypotonia, Ataxia, Hyperactivity OMIM:617113
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental peripheral... OMIM:607791
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitud... ORPHA:99950
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Muscle weakness, Clumsiness, Hypertonia, Slurred speech, Tetraparesis, EEG with generalized slow ... ORPHA:2386
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Hemidystonia OMIM:619052
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Progressive cerebellar ataxia, Dysmetria, Spastic dysarthr... ORPHA:314603
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Type 1 muscle fiber predominance, ... OMIM:618655
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Spastic diplegia, Ataxia, Bilateral tonic-cl... OMIM:619065
Caribbean Parkinsonism
EMG: myopathic abnormalities, Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypot... ORPHA:97355
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic paraparesis, Spa... OMIM:614487
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy OMIM:612998
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Generalized hypotonia, Abnormality of extrapyramidal motor function, Abnormal... OMIM:618224
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Nemaline Myopathy 6
Gait disturbance, Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Generalized hypotonia, Hypotonia, Limb ataxia, Ataxia, Unste... OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Generalized hypotonia, Hypotonia, Ataxia, Dysmetria, Intention tremor, S... OMIM:608029
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Distal muscle weakness, Dista... OMIM:605726
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment, Optic atrophy, Optic di... OMIM:165300
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Autosomal Recessive Spastic Paraplegia Type 21
Apraxia, Abnormality of extrapyramidal motor function, Difficulty walking, Gait disturbance, Abno... ORPHA:101001
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Myopathy, Spheroid Body
Tremor, Proximal amyotrophy, Waddling gait, Skeletal muscle atrophy, Myopathy, Broad-based gait OMIM:182920
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hyper... ORPHA:324588
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Arthrogryposis multiplex congenita, Neonatal hypotonia, Respiratory insuffi... OMIM:608930
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Impaired vibration sensation at ankles, Babinski sign, Dysdiadochokinesis ORPHA:101007
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Gait disturbance, Musc... ORPHA:178464
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Developmental And Epileptic Encephalopathy 40
Seizure, Cerebral cortical atrophy, Myoclonus, Choreoathetosis, Spasticity OMIM:617065
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Generalized hypotonia, Spasticity, Ataxia, Hypotonia OMIM:614458
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Tremor, Torticollis OMIM:224500
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Progressive distal muscle we... ORPHA:399058
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Limb ataxia, Oculomoto... OMIM:208920
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Muscular Dystrophy, Congenital, Lmna-Related
Congenital muscular dystrophy, Flexion contracture, Respiratory insufficiency due to muscle weakn... OMIM:613205
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Paresthesia, Impaired tactile sensation, Flexion ... OMIM:619216
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal amyotrophy... OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal muscle weakness, Peripheral axonal neuropathy, ... OMIM:613287
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, EEG with parietal focal spike wav... ORPHA:163727
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Focal hemifacial clonic seizure, Prolonged somatosensory evoked pote... OMIM:608105
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Generalized hypotonia, Gait disturbance, Ataxia, Rigidity OMIM:618239
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Hypergonadotropic hypogonadi... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Frequent falls, Impaired vibratory sensation, Ragged-red muscle fibers, Lower limb muscle weaknes... OMIM:616924
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Babinski sign, Ataxia OMIM:618418
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Muscular hypotonia of the trunk OMIM:251280
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Distal muscle weakne... OMIM:607731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Myotonia, Dysmetria, Int... OMIM:615491
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Abnormal pyramidal sign, Hemiparesis, Babinski sign, Limb dystonia ORPHA:306741
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101075
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Generalized hypotonia, Spinal muscular atrophy, Spastic ataxia, Spastic tetraparesis, Distal amyo... ORPHA:496756
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Seizure, Status epilepticus, Generalized amyotrophy, Myoclonus OMIM:616540
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:352596
Papilloma Of Choroid Plexus
Hemiplegia/hemiparesis, Hypertonia, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging OMIM:310095
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Action tremor, Ataxia, Intention tremor OMIM:302500
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia OMIM:617133
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Distal amyotrophy, Decreased number of large peri... OMIM:608340
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... ORPHA:79263
Maple Syrup Urine Disease
Hemiplegia/hemiparesis, Ataxia, Hypotonia ORPHA:511
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Tetraparesis, Ataxia, Tongue fasciculations, ... OMIM:618276
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnormal lower ... ORPHA:275872
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, F... ORPHA:2382
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Congenital muscular dystrophy, Muscular dystrophy OMIM:613152
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2