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Gene: Scn8a MGI:103169

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Gene Summary

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

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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 3.85×10-06
increased spleen weight Scn8aem1(IMPC)Bay HET Early adult 1.87×10-05
preweaning lethality, incomplete penetrance Scn8aem1(IMPC)Bay HOM   Early adult 0.00

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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.

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MicroCT E18.5

Embryo reconstruction

8 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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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
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Choreoathetosis, Involuntary movements, Paroxysmal dyskinesia, Dystonia ORPHA:31709
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Ataxia, Brain atrophy, Cerebral atrophy, Limb hypertonia, Myoclonus, Rigidity... ORPHA:442835
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Dysmetria, Generalized hypotonia, Gait ataxia, Hypotonia OMIM:614306
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080

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
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia OMIM:209100
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Autosomal Dominant Focal Dystonia, Dyt25 Type
Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... ORPHA:329466
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Dystonia, Difficulty walking, Laryngeal dystonia OMIM:619681
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
X-Linked Spastic Paraplegia Type 34
Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Shuffling gait, Low... ORPHA:171607
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Ataxia, Sensory, 1, Autosomal Dominant
Gait instability, worse in the dark, Positive Romberg sign, Babinski sign, Sensory ataxia OMIM:608984
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Dystonia 25
Torticollis, Lingual dystonia, Laryngeal dystonia, Limb dystonia OMIM:615073
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity OMIM:615685
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Generalized hypotonia, Hypotonia OMIM:213000
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia ORPHA:2672
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generalized dystonia OMIM:128101
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Normokalemic Periodic Paralysis
Periodic paralysis, Percussion myotonia OMIM:170600
Striatonigral Degeneration, Childhood-Onset
Hypertonia, Loss of ambulation, Craniofacial dystonia, Unsteady gait, Dystonia OMIM:617054
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Dystonia 33
Axial dystonia, Babinski sign, Spasticity, Limb dystonia, Dystonia, Axial hypotonia OMIM:619687
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... ORPHA:94122
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia OMIM:601238
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Neuronopathy, Distal Hereditary Motor, Type Vc
Babinski sign, Frequent falls, Chaddock reflex, Decreased compound muscle action potential amplit... OMIM:619112
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia OMIM:168885
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor, Neonatal hypotonia OMIM:300703
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, Myotonia, Periodic hypokalem... ORPHA:684
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Hereditary Motor And Sensory Neuropathy V
Hypertonia, Distal muscle weakness, Decreased motor nerve conduction velocity, Babinski sign, Abn... OMIM:600361
Developmental And Epileptic Encephalopathy 38
Hypertonia, Ataxia, Generalized hypotonia, Dystonia OMIM:617020
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Segmental peripheral demyelination/remyelination, Decreased motor nerve con... OMIM:162500
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Generalized hypotonia, A... OMIM:615159
Autosomal Recessive Spastic Paraplegia Type 56
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Spastic gait, Dystonia ORPHA:320411
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Dystonia 30
Torticollis, Leg dystonia, Oromandibular dystonia, Loss of ambulation, Writer's cramp, Dystonia, ... OMIM:619291
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure OMIM:611631
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Dystonia OMIM:615030
Autosomal Recessive Spastic Paraplegia Type 24
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Proximal muscle weakness in lower limbs, Onion bulb formation, Decreased mot... OMIM:607706
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Difficulty w... ORPHA:435387
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of the Achilles tendon, Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity,... ORPHA:431329
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... ORPHA:210571
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... ORPHA:603
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypotonia ORPHA:494526
Subacute Inflammatory Demyelinating Polyneuropathy
Tremor, Difficulty walking, Abnormality of somatosensory evoked potentials, Peripheral demyelinat... ORPHA:206594
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... ORPHA:2589
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Arm dyston... OMIM:619565
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Neonatal hypotonia, Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve condu... OMIM:605253
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebral atrophy, Myoclonus, Cerebellar atrophy, Seizure, Increased neuronal autofluoresc... OMIM:600143
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... OMIM:615362
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Motor conduction block, Decreased nerve conduction velocity, Segmental peri... ORPHA:2932
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Appendicular hypotonia, Ataxia, Inability to walk, Hypotonia OMIM:619333
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Distal muscle weakness, Foot dorsiflexor weakne... OMIM:302802
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Hypotonia OMIM:617917
Spastic Paraplegia 87, Autosomal Recessive
Upper limb spasticity, Babinski sign, Spastic gait, Lower limb spasticity, Dystonia OMIM:619966
Glutathionuria
Tremor OMIM:231950
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Babinski sign, Generalized hypotonia, Gait ataxia, Muscle we... OMIM:249900
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Distal upper limb muscle weakness, Impaired vibratory sensation, Proximal muscle weakness in lowe... OMIM:618912
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia ORPHA:98809
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Multifocal Motor Neuropathy
Motor conduction block, Progressive muscle weakness, Limb muscle weakness, Weakness of long finge... ORPHA:641
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Dis... OMIM:302801
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Hypertrophic Neuropathy Of Dejerine-Sottas
Proximal muscle weakness, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental... OMIM:145900
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Hand tremor, Impaired vibration sensation in the lower limbs... ORPHA:352675
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypot... OMIM:616921
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Myoclonus, Ragged-red muscle fibers, Spasticity, Seizure, ... OMIM:545000
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Ataxia-Microcephaly-Cataract Syndrome
Ataxia, Generalized hypotonia, Hypotonia OMIM:208870
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia ORPHA:1182
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Dystonia, Inability to walk, Spastic tetraplegia OMIM:618646
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Distal muscle weakness, Gait disturbance, Tremor, Im... ORPHA:101078
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... OMIM:118210
Hyperkalemic Periodic Paralysis
Myotonia, Periodic hyperkalemic paralysis OMIM:170500
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Babinski sign, Abnormality of the foot musculature, Hand muscle atrophy, Fo... ORPHA:100998
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Distal muscle weakness, Decreased motor nerve conduc... OMIM:608323
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Developmental And Epileptic Encephalopathy 19
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, M... OMIM:615744
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Lower limb s... OMIM:619028
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Poor head control, Severe muscular hypotonia, Onion bulb formation, Decreased mo... OMIM:618184
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... OMIM:615575
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Amyotrophy of ankle musculature, Di... ORPHA:90103
Primary Dystonia, Dyt21 Type
Torticollis, Axial dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Focal dystonia, Dy... ORPHA:306734
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Difficulty walking, Rigidity, Dystonia, Sensory ataxia OMIM:619661
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Sensorineural hearing impairment, Dysmetria, Axonal degeneration, Hand tremor, Onion... OMIM:302800
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Hypotonia ORPHA:1397
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Distal ... OMIM:605285
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... OMIM:612954
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Proximal muscle weakness, Distal muscle weakness, Decreased motor... OMIM:616688
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Favorable response o... ORPHA:353327
Isolated Cerebellar Agenesis
Hypertonia, Ataxia, Hypotonia ORPHA:1398
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Peripheral ... OMIM:608673
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia OMIM:619647
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Null Syndrome
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Progressive spa... ORPHA:280234
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal muscl... OMIM:118200
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Increased intramyocellular lipid droplets, Tremor, Ce... OMIM:612016
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Upp... OMIM:607678
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Lower limb muscle weakness, Demyelinating sensory neuropathy, Pro... ORPHA:208981
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Spinocerebellar Ataxia Type 11
Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Dystonia ORPHA:98767
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... OMIM:601068
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Primary Dystonia, Dyt6 Type
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Craniofacial dystonia, Limb dys... ORPHA:98806
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Distal muscle weakness, Hand muscle atrophy, Proximal muscle... ORPHA:99944
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, Spasticity, Hypotonia OMIM:619228
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilat... OMIM:617831
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle we... ORPHA:139536
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... OMIM:605588
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Hypotonia ORPHA:868
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Progressive proximal muscle weakness, Limb-girdle muscle weakness,... ORPHA:98912
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle weakness, Impaired vibration sensation in the lower limbs, Distal ... OMIM:270685
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Distal muscle w... ORPHA:320370
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Inability to walk by childhood/adolescence, Decreased sensory nerve conduction ve... OMIM:214400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Hepatomegaly, Splenomegaly ORPHA:2274
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Babinski sign, Nonprogress... ORPHA:453521
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Scoliosis, Steppage gait, Axonal degeneration OMIM:616155
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech ORPHA:98766
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle... OMIM:500003
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Spastic ataxia, Gait disturbance OMIM:108600
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Foot dorsiflexor... OMIM:616040
Myopathy And Diabetes Mellitus
Neonatal hypotonia, Progressive cerebellar ataxia, Progressive proximal muscle weakness, Weakness... ORPHA:2596
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Rigidity, Respiratory ... OMIM:613869
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Intrinsic hand muscle atrophy, Demyelinating peripheral neuropathy, Spastic... ORPHA:101077
Merrf
Ataxia, Generalized myoclonic seizure, Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Peroneal muscle weakness, Hand muscle weakness, Distal upper limb musc... ORPHA:101097
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex OMIM:615127
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Distal ... ORPHA:99939
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Developmental And Epileptic Encephalopathy 69
Status epilepticus, Cerebral cortical atrophy, Inability to walk, Myoclonus, Hyperkinetic movemen... OMIM:618285
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... OMIM:615686
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Dist... ORPHA:497764
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Myotonia Congenita, Autosomal Dominant
Myotonia with warm-up phenomenon, Percussion myotonia, Handgrip myotonia, Myotonia, EMG: myotonic... OMIM:160800
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity, Muscle weakness OMIM:611105
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, ... OMIM:616981
Brody Disease
Somatic sensory dysfunction, Fasciculations, Percussion myotonia, Myotonia OMIM:601003
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... ORPHA:609
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Pontocerebellar Hypoplasia, Type 1E
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Elbow flexion contractur... OMIM:619303
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Generalized hypotonia, Dystonia, Hypotonia OMIM:613720
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myotonia OMIM:170400
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Distal amyotrophy, Tremor, Frequent falls, Gait ataxia... OMIM:611302
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:614820
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Distal upper limb muscle weakness, D... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal muscle weakness, F... OMIM:606483
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Muscle weakness, Distal upper limb amyotrophy, Abnor... ORPHA:65684
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal upp... ORPHA:98897
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Progressive distal muscular atrophy, Myoclonus, Degeneration of an... OMIM:159950
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:104290
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Tremor, Muscle weakness, Abnorma... ORPHA:99014
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Roussy-Lévy Syndrome
Clumsiness, Limb ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity,... ORPHA:3115
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... OMIM:616127
Charcot-Marie-Tooth Disease, Type 4B1
Distal muscle weakness, Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular ... OMIM:601382
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Loss of ambulation, Abnormality o... ORPHA:399081
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Gen... OMIM:617384
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Muscular dystrophy, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Leukodystrophy, Hypomyelinating, 18
Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Babinski sign, Progressive spa... OMIM:618404
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Diaphragmatic weakness, Sensory ataxia, Decreased sen... ORPHA:101081
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... OMIM:500002
Myasthenic Syndrome, Congenital, 5
Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Generalized hypotonia, Fatigable ... OMIM:603034
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Amish Nemaline Myopathy
Hip contracture, Neonatal hypotonia, EMG: myopathic abnormalities, Type 1 muscle fiber predominan... ORPHA:98902
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal upper limb muscle weakness, Weakness of facial musculature, Foot dorsiflexor weakness, Wri... OMIM:619519
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... OMIM:619862
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations OMIM:183050
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Muscular dystrophy, Ventricular hypertrophy, Scapular winging, Proximal ... OMIM:601287
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Onion bulb formation, Distal amyotrophy, Spastic paraplegia, Demy... OMIM:182815
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Decrease... OMIM:604484
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... OMIM:607641
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal muscle weakness, Onion bulb formation, Decreased motor nerve conduction velocity, Peripher... OMIM:610100
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, ... OMIM:608105
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Smal... OMIM:609311
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Increas... OMIM:204500
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia OMIM:159900
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... OMIM:619065
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Loss of ambulation, Frontal cortical atrophy, Brain atrophy, Pelvic gi... OMIM:167320
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... ORPHA:98890
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... OMIM:615924
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Athetosis, Gait disturbance, Generalized non-motor (absence) seizu... OMIM:618141
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Dysmetria, Generalized myoclonic seizure, Spastic paraparesis, Myoclonus, Dysdiadochokine... OMIM:614487
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia OMIM:616267
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... OMIM:220200
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Progressive Myoclonic Epilepsy With Dystonia
Status epilepticus, Hemiplegia, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Myoclo... ORPHA:352596
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity ORPHA:401849
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... ORPHA:284332
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Dist... OMIM:606482
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti... OMIM:618418
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy, Seizure, Increa... OMIM:256731
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia OMIM:617829
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Progressive cerebellar ataxia, Dysmetria, Spastic dysarthria, Gait ataxia, Spasticity, Dystonia, ... ORPHA:314603
Nemaline Myopathy 6
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal muscle weakness, Distal amyotrophy, Uppe... OMIM:607791
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neonatal hypotonia, Gowers sign, Type 2 muscle fiber atrophy, Ophthalmoparesis, Decreased miniatu... OMIM:608930
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babi... ORPHA:263494
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Distal upper limb muscle weakness, Distal muscle weakness, Decreased motor ner... ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Distal muscle weakness, Decreased motor nerve conduction velocity, Foo... OMIM:606595
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Hypertonia, Clumsiness, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Mus... ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal muscle weakness, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, ... OMIM:613287
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... OMIM:608029
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Increased variabil... OMIM:616852
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Myoclonic status epilepticus, Difficulty w... OMIM:614018
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy OMIM:612998
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... OMIM:204300
Huntington Disease-Like 2
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Dystonia ORPHA:98934
Caribbean Parkinsonism
Action tremor, Bradykinesia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiol... ORPHA:97355
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination OMIM:165200
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Neonatal hypotonia OMIM:302500
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, I... ORPHA:86812
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... OMIM:616924
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia, Axial hypotonia ORPHA:324588
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Lower limb muscle weakness, Gait disturbance, Difficulty walking, Spasti... ORPHA:101001
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Decreased m... OMIM:615376
Neurodegeneration With Brain Iron Accumulation
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Dystonia ORPHA:385
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia ORPHA:211017
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Distal muscle weakness, Decreased motor nerve conduction velocity, Babinski sign, Foot dorsiflexo... OMIM:605726
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign ORPHA:101007
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure OMIM:208700
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Hemidystonia, Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait OMIM:619052
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... OMIM:605820
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Hearing impairment, Abnormality of extrapyramidal motor... OMIM:165300
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Limb-girdle ... ORPHA:399058
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal muscle weakness, Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers... OMIM:607677
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... OMIM:208920
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:101075
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Mitochondrial Complex I Deficiency, Nuclear Type 17
Ataxia, Generalized hypotonia, Rigidity, Gait disturbance, Dystonia OMIM:618239
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Diaphragmatic weakness, Intrinsic hand muscle atrophy, Decreased size of nerve terminals, Type 2 ... OMIM:601462
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Flexion contracture, Congenital muscular dystrophy, Generalized amyotrophy, Re... OMIM:613205
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Abnormal cerebellum morphology, Babinski sign, Difficulty walking, Spasticity, Generalize... OMIM:618242
Choreoathetosis, Familial Inverted
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis OMIM:118750
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis, Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Hyperg... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Decreased number of periphe... OMIM:607731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized hypotonia, Rigidity, Gait disturbance, Tremor OMIM:618090
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Generalized myoclonic seizure, Spastic paraparesis, Myoclonus, Dysdiadochokine... ORPHA:313772
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Seizure, Generalized amyotrophy OMIM:616540
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia, Dystonia, Axia... OMIM:619150
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... OMIM:610245
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Dysmetria, Intention tremor, Ankle clonus, Myotonia, Babinski sign, Head titubation, Spas... OMIM:615491
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Atoni... ORPHA:2590
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging OMIM:310095
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia OMIM:618317
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia ORPHA:284282
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Papilloma Of Choroid Plexus
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma ORPHA:2807
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Spinocerebellar Ataxia Type 12
Ataxia, Abnormal cerebellum morphology, Action tremor, Cerebral atrophy, Poor fine motor coordina... ORPHA:98762
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia OMIM:617133
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Dysmetria, Limb ... OMIM:607136
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Inability to walk, Tetraparesis, Spasticity, Muscle weakness, Hypotoni... OMIM:618276
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements