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Gene: Pmp22 MGI:97631

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peripheral myelin protein 22
Synonyms:
Gas-3,  TRE002

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pmp22 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 Pmp22 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... OMIM:162500
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal sensory impairment, Ac... ORPHA:101081
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Postural tremor, Babinski sign, Limb ataxia, Clumsines... ORPHA:3115
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... OMIM:118300
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Impaired temperature sensation, Peroneal muscle atrophy, Hand muscle weaknes... ORPHA:90658

The table below shows human diseases predicted to be associated to Pmp22 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon... OMIM:620378
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Sensorineural hearing impairment, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation OMIM:212890
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... OMIM:601098
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, G... OMIM:614561
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Impaired distal vibration sensation, Babinski sign, Hand tremor, Distal ... OMIM:618279
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Sensorineural hearing impairment, Axonal loss, Difficulty walking, Dystonia, Peripheral d... OMIM:616684
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... OMIM:604484
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... OMIM:606483
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... ORPHA:2932
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spasticity, Spastic paraplegia, Scissor gait OMIM:615685
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... ORPHA:206594
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait OMIM:607584
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Megalencephaly With Dysmyelination
Spasticity, Ataxia, EEG with photoparoxysmal response, Cerebral dysmyelination OMIM:249240
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... OMIM:607731
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Episodic Ataxia Type 5
Vertigo, Ataxia, Truncal ataxia ORPHA:211067
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Babinski sign, ... ORPHA:101007
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Intellectual Developmental Disorder, Autosomal Recessive 63
Inability to walk, Spasticity, Hypotonia, Interictal epileptiform activity OMIM:618095
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Cerebella... OMIM:302800
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... OMIM:311070
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity OMIM:616494
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Rigidity, Hypotonia, Hypertonia, Spasticity ORPHA:2672
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibration sensation, H... OMIM:300905
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... ORPHA:2386
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia OMIM:209100
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Adult onset sensorineural hearing impairment, Distal sensory impairment OMIM:212710
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Truncal ataxia, Limb a... OMIM:617560
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Hearing impairment, Spastic paraparesis OMIM:312910
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality, Spasticity, Ataxia, Hypotonia OMIM:619228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a... OMIM:615035
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... OMIM:162500
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal... OMIM:610100
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Hypotonia, Gait ataxia,... OMIM:249900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... OMIM:208920
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Ataxia, Spastic tetraparesis, Cavitating leukodystrophy OMIM:619061
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Sensorineural hearing impairment, Distal sensory impairment, Steppage gait, Progressive sensorine... OMIM:607736
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Prolonged brainstem auditory evoked potentials, Decreased motor n... OMIM:601596
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,... ORPHA:401820
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... OMIM:618404
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Autosomal Recessive Spastic Paraplegia Type 57
Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasticity, Abnormality o... ORPHA:431329
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai... OMIM:609311
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Hypogo... ORPHA:2815
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction OMIM:612577
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Impaired d... OMIM:601455
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:118200
Spastic Paraplegia 62, Autosomal Recessive
Lower limb spasticity, Clonus, Babinski sign, Tip-toe gait, Difficulty walking, Spasticity, Spast... OMIM:615681
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Peripheral axonal neuropathy, Spastic paraplegia, Ataxia, CNS hypomyelination OMIM:619688
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Peripheral ... OMIM:607250
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond... ORPHA:65684
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Peripheral axonal neuropathy, Ataxia, Sensorineural hearing impairment, Abnormal pyramidal sign, ... OMIM:619196
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... OMIM:607791
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Spastic paraplegia, Onion bulb ... OMIM:182815
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Abnormal pyramidal sign, Cerebral atrophy,... ORPHA:527497
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... ORPHA:99953
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hearing impairment, Hand tremor, Spastic dysarthria, Abnormal myelination,... ORPHA:401830
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Babinski sign, Abnormal pyramidal sign, Spastic diplegia, Optic atrophy, Gait dis... OMIM:616859
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Facial palsy, Demyelinating motor neuropathy, Rigidity, Head titubation, Babins... OMIM:608804
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment OMIM:616155
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... OMIM:607706
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Inability to walk, Cerebral atrophy, Delayed CNS myelination, Tetraplegia OMIM:618331
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... ORPHA:2589
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, EEG abnormality, Hypertonia, Hearing impairment ORPHA:2732
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS... OMIM:607694
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:605588
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Krabbe Disease
Axial hypotonia, Decreased nerve conduction velocity, Optic atrophy, Hypotonia, EEG abnormality, ... OMIM:245200
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairmen... OMIM:605285
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Peripheral demyelination, Distal sensory impairment ORPHA:99944
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... ORPHA:1368
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dys... OMIM:612438
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, EEG... OMIM:606777
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Leukodystrophy, ... OMIM:610532
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Optic atrophy, Cerebral atrophy, CNS hypomye... OMIM:617951
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy ORPHA:309169
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Spastic Paraplegia 63, Autosomal Recessive
Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia, Gait disturbance, Impaired v... OMIM:615686
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Babinski sign, Spasticity, Frequent falls, S... OMIM:619742
Pelizaeus-Merzbacher Disease, Transitional Form
Spastic tetraparesis, CNS hypomyelination ORPHA:280224
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Delayed myelination, Seizure, EEG abnormality, Myo... OMIM:617391
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He... ORPHA:101075
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Frequent falls, Babinski sign, Decreased compound muscle action potential amplitude, Chaddock reflex OMIM:619112
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Axonal loss, Inappropriate behavior, Gliosis, Myoclonus, Gait disturbance, Apraxia... OMIM:221770
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Inability to walk, Chorea, CNS hypomyelination, Spasticity OMIM:618557
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... OMIM:608634
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Abnormal pyramidal sign ORPHA:85163
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage... OMIM:608340
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Diaphragmatic paralysis ORPHA:868
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, CNS demyelination, Gliosis, Gait disturbance, Cerebral hypomyelinat... OMIM:603896
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Optic atrophy, Tetraplegia, Cerebral atrophy, Dyston... OMIM:300475
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppa... OMIM:615376
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance, H... ORPHA:101078
Hereditary Methemoglobinemia
Cerebellar atrophy, Delayed myelination, Spastic tetraplegia, Temporal cortical atrophy, Athetosi... ORPHA:621
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Seizure, Hypertonia OMIM:614023
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased testicular size, Decreased motor nerve conduction veloc... OMIM:604168
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, S... OMIM:300423
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai... OMIM:600882
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Optic atrophy, Tetraplegia,... ORPHA:369939
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... OMIM:613722
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ... OMIM:607641
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, CNS hypomy... OMIM:614381
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis... OMIM:616291
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Inability to walk, Babinski sign, CNS hypomyelination, Lower limb hypertonia, ... OMIM:619328
Choreoathetosis, Familial Inverted
Rigidity, Abnormal pyramidal sign, Seizure, Gait disturbance, Progressive choreoathetosis OMIM:118750
Spastic Paraplegia 44, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination,... OMIM:613206
Spinocerebellar Ataxia 13
Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, Limb ataxia, Gait at... OMIM:605259
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Proximal muscle weakness, Tremor, Fasciculations, Loss of ambulation OMIM:182980
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gliosis, Gait disturbance, Shuffli... OMIM:221820
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Generalized hypo... ORPHA:94122
Gemignani Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Abnorm... ORPHA:2074
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia OMIM:300857
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Delayed CNS myelination, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral atrophy,... OMIM:616657
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Giant Axonal Neuropathy
Facial palsy, Babinski sign, Unsteady gait, CNS hypomyelination, Falls, Diffuse axonal swelling, ... ORPHA:643
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis... ORPHA:300605
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... OMIM:615490
Cerebellar Ataxia, Cayman Type
Broad-based gait, Hypotonia, Gait ataxia, Truncal ataxia, Intention tremor OMIM:601238
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Hypertonia, Sp... OMIM:600361
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status ep... ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp... OMIM:615768
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... ORPHA:280219
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Lower limb spasticity, Optic disc pallor, Ataxia, Babinski sign, Spastic diplegia, CNS hypomyelin... OMIM:615281
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... OMIM:105500
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Delayed myelination, Chorea, ... ORPHA:79097
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... OMIM:236792
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, Cerebellar atrophy, A... OMIM:617225
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,... OMIM:620221
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus OMIM:617171
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Periventricular Nodular Heterotopia 8
Delayed CNS myelination, Cerebellar vermis atrophy, Spasticity OMIM:618185
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Delayed CNS myelination, Inability to walk, Cerebral a... OMIM:618468
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Limb dystonia, Sp... OMIM:619125
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak... OMIM:158590
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Spastic dy... ORPHA:447896
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... ORPHA:352675
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination ORPHA:401835
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Atrophy/Degenerat... OMIM:613477
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... ORPHA:280210
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P... ORPHA:71211
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... OMIM:616139
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo... ORPHA:163721
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment ORPHA:1186
Developmental And Epileptic Encephalopathy 97
Tremor, Seizure, Epileptic spasm, Inability to walk OMIM:619561
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower... ORPHA:438114
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal sensory impairment, Ac... ORPHA:101081
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... ORPHA:206443
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Difficulty walking, Muscle weakness OMIM:613710
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De... OMIM:270550
Multiple Mitochondrial Dysfunctions Syndrome 4
Spasticity, Optic atrophy, Leukodystrophy OMIM:616370
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Waddling gait, Peripheral axonal neuropathy, Delayed CNS myelination, Babinski sign, Hypotonia, S... OMIM:619090
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Impotence, Leu... OMIM:169500
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Bilate... ORPHA:314603
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination OMIM:618559
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Optic atrophy, Limb... OMIM:614322
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Delayed CNS myelination, Axial hypotonia, Ataxia, Clonus, Exaggerated star... OMIM:616881
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Chorea, Benign Familial
Chorea OMIM:215450
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:615006
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls, Clonus, Tongue fasciculations OMIM:618811
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Optic atrophy, Cerebral atrophy, CNS... OMIM:618012
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... OMIM:619862
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Impaired ... OMIM:162400
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure OMIM:619639
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Delayed CNS myelination, Cerebral atrophy OMIM:618875
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain sensation, Babinski... OMIM:608703
Developmental And Epileptic Encephalopathy 74
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical... OMIM:618396
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Imp... ORPHA:99948
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia... OMIM:617836
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity, Hearing impairment OMIM:312840
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Sensorineural hearing impairment, Babinski sign, Distal sensory impairment... OMIM:617882
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Spinal Muscular Atrophy, Type Iii
Proximal muscle weakness, Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, ... OMIM:253400
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Severe muscular hypotonia, Fac... OMIM:617519
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, ... ORPHA:504476
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukodyst... OMIM:617916
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Developmental And Epileptic Encephalopathy 58
Delayed myelination, Optic atrophy, Spastic diplegia, Hypsarrhythmia, Seizure, Status epilepticus OMIM:617830
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Hypotonia, Limb dystonia, Hearing impairment OMIM:620270
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity, Leukodystrophy, Dystonia OMIM:614932
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Somatic sensory dysfunction, Tremor, Inability to walk, Gait distur... ORPHA:101077
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Retinal Dystrophy With Leukodystrophy
Waddling gait, Truncal titubation, Dysmetria, CNS hypomyelination, Falls OMIM:618863
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Hypotonia, Ataxia ORPHA:85297
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... OMIM:614487
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Postural tremor, Babinski sign, Limb ataxia, Clumsines... ORPHA:3115
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Optic atrophy, EEG abnormali... ORPHA:457205
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk, Dysmetria, Ga... OMIM:618090
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... OMIM:615924
Developmental And Epileptic Encephalopathy 34
Delayed CNS myelination, Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizur... OMIM:616645
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Ataxia, Cerebral dysmy... OMIM:609136
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Rigidity, Inability to walk, CNS hypomyelination, Choreoathetosis, Hypertonia OMIM:620023
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... OMIM:603516
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Impaired proprioception, Impaired vibration sensation in the lower limb... OMIM:609033
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore... OMIM:612164
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dysmetria, Spasticity,... OMIM:612674
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, EEG with generalized spikes, Myo... OMIM:613855
Huppke-Brendel Syndrome
Cerebellar atrophy, Inability to walk, Cerebral atrophy, CNS hypomyelination OMIM:614482
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS myelination, D... ORPHA:477673
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... ORPHA:52368
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Peripheral axonal neuropathy, Broad-based gait, Ataxia, Babinski sign, Abn... ORPHA:320391
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Spastic Paraplegia-Nephritis-Deafness Syndrome
Spasticity, Gait disturbance, Paraplegia, Sensorineural hearing impairment ORPHA:2820
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... ORPHA:216873
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Seizure, Athetosis, Dystonia, Focal sensory seizure ORPHA:98809
Developmental And Epileptic Encephalopathy 86
Dystonia, CNS hypomyelination OMIM:618910
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Involuntary movements, Hypergonadotropic hypogonadism, Decreased number of large peripher... OMIM:271245
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... OMIM:615528
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Ataxia, Poor coordination, Generalized non-motor (absence) sei... OMIM:617665
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo... OMIM:614959
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Combined Saposin Deficiency
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations, CNS demyelinatio... OMIM:611721
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating motor neuropathy, Impaired proprioception, Han... ORPHA:101085
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Spastic paraplegia, Impaired ... OMIM:614409
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, Broad-based gait, Inability to walk, CNS hypomyelination, Myoclonus OMIM:616158
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfolding... OMIM:615284
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Sensorineural hearing impairment, Ataxia,... OMIM:614116
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Seizure, Decreased sensory n... OMIM:603472
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... ORPHA:31709
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... OMIM:118300
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Spas... OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia, Spasticity, Intenti... OMIM:608029
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Hypergonado... OMIM:613724
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Multifocal epileptiform ... OMIM:617904
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, Spastic paraplegia, D... OMIM:610357
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... OMIM:617113
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Apraxia, Spasticity, Abnor... ORPHA:101001
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Myoclonus, Atypical absence... ORPHA:2382
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Sensorineural hearing impairment, Athetosis, Abnormal CNS myelination, Dystonia, Spasticity OMIM:612951
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod... OMIM:618688
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Sensorineural hearing impairment, Distal sensory impairment, Axonal loss, Steppage gait, Onion bu... OMIM:614455
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased nerve conduction velocity, Limb trem... OMIM:218000
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclon... OMIM:616409
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased nerve conduction velocity, P... ORPHA:101082
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity... OMIM:619911
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment OMIM:616287
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Abnormal motor evoked potentials, Demyelinating sensory neur... ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Fasciculations OMIM:606595
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebellar ataxia, Progressive gait a... ORPHA:101112
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... ORPHA:276435
Autosomal Recessive Spastic Paraplegia Type 60
Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Diffi... ORPHA:401800
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Dystonia OMIM:616763
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy, Spasticity OMIM:300983
Developmental And Epileptic Encephalopathy 109
Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:620145
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Cerebral atrophy, CNS hypomyelination, Hyperkinetic movements, ... OMIM:616420
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Spastic ... OMIM:238970
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... OMIM:613672
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Landau-Kleffner Syndrome
Speech apraxia, Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic... ORPHA:98818
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesi... OMIM:618356
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Inability to walk, Babinski sign, CNS hypomyelination, Gait disturbance, D... ORPHA:280229
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:608323
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Proximal muscle weakness, Tremor, Gowers sign, Respiratory insufficiency due to mus... OMIM:159950
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Delayed CNS myelination, Broad-based gait, Abnormal pyramidal sign, Dysmetria,... OMIM:617964
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls, Tinnitus OMIM:617691
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Gait ataxia, Opisthotonus, CNS hypomyeli... OMIM:103050
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Seizure, Spasticity, Frequent falls OMIM:620068
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Delayed peripheral myelination, Se... ORPHA:464282
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis... OMIM:213600
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, Inability to walk, CNS hypomyelination, Hypertonia, Spasticity OMIM:616577
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Myoclonus, Dystonia, H... ORPHA:139485
Developmental And Epileptic Encephalopathy 17
Delayed CNS myelination, Inability to walk, Chorea, Cerebral atrophy, Athetosis, Dystonia OMIM:615473
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG... ORPHA:86909
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... ORPHA:140927
Spinocerebellar Ataxia 17