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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Sensory ataxia, Decreased sensory nerve conduction velocity, Myelin tomacula, S... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... OMIM:162500
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Demyelinating peripheral neuropathy, Sensory ataxia, ... ORPHA:101081
Roussy-Lévy Syndrome
Clumsiness, Limb ataxia, Decreased motor nerve conduction velocity, Babinski sign, Frequent falls... ORPHA:3115
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Charcot-Marie-Tooth Disease Type 1E
Gait imbalance, Inability to walk, Hand muscle atrophy, Difficulty walking, Distal lower limb amy... ORPHA:90658

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Difficulty walking, Steppage gait OMIM:618279
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
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
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Progressive gait ataxia, Demyelinating motor neuropathy, Symmet... ORPHA:208981
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Sensory axonal neuropathy, Gait disturbance, Motor axonal n... ORPHA:98765
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Steppage gait OMIM:616039
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration, Steppage gait OMIM:615185
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia, Axonal loss OMIM:212890
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Ataxia, Peripheral demyelination, CNS demyelination OMIM:165200
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Glutathionuria
Tremor OMIM:231950
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... ORPHA:2932
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech 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
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Lower limb spasticity, Progressive spastic paraplegia, Spastic gait, ... ORPHA:401840
Null Syndrome
Ataxia, Inability to walk, Demyelinating peripheral neuropathy, Decreased nerve conduction veloci... ORPHA:280234
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Hypoesthesia, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... OMIM:614895
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Ataxia, Difficulty walking, Hearing impairment, Dystonia, Perip... OMIM:616684
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... OMIM:601068
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity... OMIM:614561
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Ataxia-Deafness-Retardation Syndrome
Ataxia, Progressive sensorineural hearing impairment OMIM:208850
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... OMIM:606483
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity OMIM:615685
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... OMIM:609260
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... OMIM:607677
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Tremor, Difficulty walking, Abnormality of somatosensory evoked p... ORPHA:206594
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor n... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607731
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Cerebral dysmyelination, Ataxia, Spasticity OMIM:249240
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Bab... ORPHA:101007
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormality of extrapyramidal motor function... OMIM:617672
Intellectual Developmental Disorder, Autosomal Recessive 63
Inability to walk, Spasticity, Interictal epileptiform activity, Hypotonia OMIM:618095
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enha... OMIM:615127
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Loss of ambulation, Impaired vibratory sensation, Decreased number of ... ORPHA:101097
Episodic Ataxia Type 5
Vertigo, Ataxia, Truncal ataxia ORPHA:211067
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Decreased nerve conduction velocity, Onion bulb formation, Decreased ... OMIM:611228
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... ORPHA:497764
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Status epilepticus, Inability to walk, Delayed myelination, Seizure, Tetraplegia OMIM:618331
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... OMIM:311070
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia ORPHA:2672
Leukodystrophy, Hypomyelinating, 11
Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, CNS hypomyelination OMIM:616494
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis, Hypogonadism OMIM:312910
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia OMIM:209100
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Hypertonia, Clumsiness, Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated ner... ORPHA:2386
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Impaired distal proprioception, Peripheral demyelination ORPHA:231445
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration OMIM:616155
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment, Adult onset sensorineural hearing impairment OMIM:212710
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Sensory ataxia, Decreased sensory nerve conduction velocity, Myelin tomacula, S... OMIM:145900
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Limb ataxia, Leukodystrophy, Abnormal pyramidal sign, Truncal ataxia, Head titubatio... OMIM:617560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... ORPHA:99953
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Distal sensor... OMIM:608340
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Babinski sign, Generalized hypotonia, Gait ataxia, CNS demye... OMIM:249900
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Broad-based gait, Positive Romberg sign, Distal sensory impairment, Optic atrophy, Gait ataxia, P... OMIM:258650
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Distal sensory impairment, Opt... OMIM:615035
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Sensorineural hearing impairment, Distal sensory impairment, Axonal degeneration/regeneration, Pe... OMIM:607736
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity OMIM:611105
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Loss of ambulation, Limb at... OMIM:208920
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, EEG abnormality, Acroparesthesia, Hoffmann sign... ORPHA:206448
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait distu... ORPHA:2815
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... OMIM:607706
Leukodystrophy, Hypomyelinating, 6
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... OMIM:612438
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... OMIM:609311
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Babinski sign, Lower limb spasticity, Difficulty walking, Progressive ... ORPHA:401820
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Myoclonus, Dysdiadochokinesis, Truncal ataxia, Falls, Limb dysm... ORPHA:363710
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 57
Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity, Abnormality of peripheral nerve con... ORPHA:431329
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal senso... OMIM:118200
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Babinski sig... OMIM:618404
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal muscle weakness, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, EEG abnormality, Spasticity, Hypotonia OMIM:619228
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Cavitating leukodystrophy, Seizure, Ataxia OMIM:619061
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... OMIM:270500
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... ORPHA:98856
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Ataxia, Delayed myelination, Leukodystrophy, Optic atrophy, Spasticity, Clonus OMIM:616881
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Decreased nerve conduction velocity OMIM:612577
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Generalized hypotonia, Hypotonia OMIM:213000
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... OMIM:605588
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve cond... ORPHA:65684
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demy... ORPHA:99944
Microcephaly 10, Primary, Autosomal Recessive
Hypertonia, Gliosis, Delayed myelination, Cerebral atrophy, Spasticity, Cerebellar atrophy, CNS h... OMIM:615095
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Cerebral atrophy, Leukodystrophy, Abnormal pyramidal sign, Head titubation, Progressive s... ORPHA:527497
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... OMIM:610245
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Leukodystrophy, Hypomyelinating, 2
Ataxia, Cerebral atrophy, Demyelinating motor neuropathy, Spastic paraparesis, Intention tremor, ... OMIM:608804
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... ORPHA:1368
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, Ataxia, CNS hypomyelination, Peripheral axonal neuropathy OMIM:619688
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:619964
Pelizaeus-Merzbacher Disease
Ataxia, Cerebellar vermis atrophy, Inability to walk, Sudanophilic leukodystrophy, Optic atrophy,... OMIM:312080
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Charcot-Marie-Tooth Disease, Type 4B2
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... OMIM:604563
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Abnormal pyramidal sign, Cerebral hypomyelination, Optic atrophy, Cerebellar at... OMIM:300475
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spastic Paraplegia 62, Autosomal Recessive
Tip-toe gait, Babinski sign, Difficulty walking, Spasticity, Clonus, Spastic gait, Lower limb spa... OMIM:615681
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations OMIM:183050
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Lower limb spasticity, Progressive spastic paraplegia, Hearing i... ORPHA:401830
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Sensorineural hearing impairment, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Peripheral axo... OMIM:619196
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia OMIM:600116
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy, Spastic diplegia, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Gait dis... OMIM:616859
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria OMIM:612437
Leukodystrophy, Hypomyelinating, 5
Loss of ambulation, Truncal titubation, Intention tremor, Onion bulb formation, Decreased motor n... OMIM:610532
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... OMIM:608105
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Dysmetria, Leukodystrophy, Babinski sign, ... OMIM:607694
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment, Abnormal nerve con... ORPHA:101075
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Hearing impairment, Abnormality of extrapyramidal motor... OMIM:165300
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Krabbe Disease
Hypertonia, EEG abnormality, Decreased nerve conduction velocity, Decerebrate rigidity, Optic atr... OMIM:245200
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... ORPHA:2589
Olivopontocerebellar Atrophy-Deafness Syndrome
Hypertonia, Ataxia, EEG abnormality, Optic atrophy, Hearing impairment ORPHA:2732
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Diffuse cerebellar atrophy, Progres... ORPHA:101111
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Spasticity, Cerebella... OMIM:619742
Leukodystrophy, Hypomyelinating, 15
Ataxia, Loss of ambulation, Cerebral atrophy, Intention tremor, Leukodystrophy, Abnormal pyramida... OMIM:617951
Developmental And Epileptic Encephalopathy 93
Inability to walk, Cerebral atrophy, Optic atrophy, Gait disturbance, Cerebellar atrophy, Spastic... OMIM:618012
Periventricular Nodular Heterotopia 8
Delayed myelination, Spasticity, Seizure OMIM:618185
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... OMIM:617831
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... OMIM:600882
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal impaired awareness seizure, EEG with generalized polyspikes, EEG w... ORPHA:725
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... OMIM:615686
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... OMIM:601382
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia OMIM:117210
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation, H... ORPHA:101078
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Pelizaeus-Merzbacher Disease, Transitional Form
Spastic tetraparesis, CNS hypomyelination ORPHA:280224
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... OMIM:607458
Phosphoserine Phosphatase Deficiency
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation, Seizure OMIM:614023
Neuronopathy, Distal Hereditary Motor, Type Vc
Frequent falls, Babinski sign, Chaddock reflex, Decreased compound muscle action potential amplitude OMIM:619112
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... OMIM:615490
Hypomyelination-Congenital Cataract Syndrome
Abnormal pyramidal sign, Cerebral hypomyelination ORPHA:85163
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... ORPHA:94122
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Tremor, Gait disturbance OMIM:300660
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... OMIM:618184
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decreased motor nerve ... OMIM:604168
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Seizure OMIM:616187
Glut1 Deficiency Syndrome 1
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... OMIM:606777
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukoencephalopathy With Vanishing White Matter
Gliosis, Cerebral hypomyelination, Optic atrophy, Gait disturbance, Spasticity, Unsteady gait, CN... OMIM:603896
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Hereditary Motor And Sensory Neuropathy V
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... OMIM:600361
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure OMIM:619561
Neuronopathy, Distal Hereditary Motor, Type Viib
Distal muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Facia... OMIM:607641
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Sensorineural hearing impairment, Progressive cerebellar ataxia, Impaired vibration sensation in ... ORPHA:352641
Hereditary Methemoglobinemia
Temporal cortical atrophy, Hypertonia, Frontal cortical atrophy, Delayed myelination, Cerebral hy... ORPHA:621
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Leukodystrophy, Dysdiadochokinesi... OMIM:614381
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles of ... OMIM:608634
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... OMIM:607317
Galloway-Mowat Syndrome 5
Hearing impairment, Spasticity, Peripheral demyelination, Ataxia OMIM:617731
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Corpus callosum atrophy, Parkinso... OMIM:221820
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Brain atrophy, Abnormal pyramidal sign, Corpus callosum atrophy, Cereb... ORPHA:369939
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Cerebral atrophy, Ankle clonus, Babinski sign, Spastic tetraplegia, Spasticity... OMIM:616657
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Spasticity, Apraxia, Cauda... OMIM:221770
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Status epilepticus, Inability to walk, Delayed myelination, Spastic diplegia, S... OMIM:617830
Developmental And Epileptic Encephalopathy 78
Inability to walk, Cerebral palsy, Chorea, Spasticity, CNS hypomyelination OMIM:618557
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... OMIM:618387
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, EEG with spike-w... OMIM:618587
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... OMIM:617145
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Seizure OMIM:118750
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Decreased nerve conduction velocity, Hand tremor, Impaired vibr... ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Optic atrophy, Tremor, Gait disturbance, Impaired pain sensation, Hearing im... ORPHA:99014
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, EEG with spike-wave complexes, Focal aware seizure, Visually-in... OMIM:614417
Giant Axonal Neuropathy
Babinski sign, Falls, Difficulty walking, Spasticity, Unsteady gait, Diffuse axonal swelling, Fac... ORPHA:643
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo... OMIM:615768
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Distal muscle weakness, Tremor, Proximal muscle weakness, Fasciculations OMIM:182980
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Intention tr... ORPHA:98762
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Amyotrophic lateral sclerosis, Ataxia, Hypertonia, Axial dystonia, Inabil... ORPHA:300605
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, Decreased motor nerve conduction velocity, Cerebral hypomyelination, Cerebellar... OMIM:601170
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia OMIM:601238
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Ataxia, Spastic diplegia, Babinski sign, Lower limb spasticity, Optic disc pallor, CNS hypomyelin... OMIM:615281
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis, M... OMIM:105500
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Cerebellar a... OMIM:613477
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia, Axonal loss OMIM:300857
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Leukodystrophy, Rigidity, Tremor, Dystonia OMIM:615010
Developmental And Epileptic Encephalopathy 76
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination, Upper limb spas... OMIM:618468
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, E... OMIM:609446
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... OMIM:210000
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cerebral hypomyeli... ORPHA:280219
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Folinic Acid-Responsive Seizures
Broad-based gait, Hypertonia, Ataxia, Delayed myelination, Cerebral hypomyelination, Chorea, Opti... ORPHA:79097
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Tetraplegia, Babinski sign, Generalized hypotonia, C... OMIM:250100
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Leukodystrophy, Spasticity OMIM:616370
Benign Familial Infantile Epilepsy
Status epilepticus, Hypertonia, Focal motor seizure, Focal impaired awareness seizure, Generalize... ORPHA:306
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Inability to walk, Focal hemiclonic seizure, Bilateral tonic-clonic seizure w... OMIM:616645
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... OMIM:614018
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, He... ORPHA:71277
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Leukodystrophy, Hypomyelinating, 22
Inability to walk, Optic disc pallor, Lower limb hypertonia, CNS hypomyelination, Upper limb hype... OMIM:619328
Kaya-Barakat-Masson Syndrome
Cerebral atrophy, Spasticity, Cerebellar atrophy, Limb dystonia, Spastic tetraplegia, CNS hypomye... OMIM:619125
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Dystonia 23
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance,... OMIM:614860
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Cerebral cortical atrophy, Upper motor neuron dysfunction, Clumsiness, Dysmetria, Intenti... ORPHA:447896
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment, Truncal ataxia, Ataxia OMIM:614504
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous spike and waves during slow sleep, EEG with focal sharp waves, Bilateral tonic-clonic ... ORPHA:163721
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Neuronal loss in central nervous system, Paraplegia, Peripheral demy... ORPHA:71211
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Demyelinating peripheral neuropathy, Sensory ataxia, ... ORPHA:101081
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... OMIM:270550
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal muscle weakness, Peripheral axonal neuropathy, Difficulty walking, Paralysis, Muscle weakness OMIM:613710
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Gliosis, Inability to walk, Cerebral hypomyelination, Titubation, Abnormal myelination, D... ORPHA:280210
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intention tremor, Myoclonus, ... OMIM:618356
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... ORPHA:308
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Tremor, Difficulty walking, Lower limb spasticity, Slurred speech, Axial hypo... ORPHA:206443
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system, Ataxia ORPHA:1186
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles... OMIM:158590
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Spasticity, Abnormality of extrapyramidal mo... OMIM:616140
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Impotence, Pseudobulbar paralysis, Autonomic erectile dysfunction, Orthostatic hypotensio... OMIM:169500
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Progressive cerebellar ataxia, Dysmetria, Spastic dysarthria, Gait ataxia, Spasticity, Dystonia, ... ORPHA:314603
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremor, Cerebellar atrophy, Abnormali... OMIM:615362
Autosomal Spastic Paraplegia Type 72
Spastic gait, Impaired vibration sensation at ankles, Rigidity, Postural tremor ORPHA:401849
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Delayed myelination, Cerebral cortical atrophy,... OMIM:614959
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Seizure,... OMIM:619851
Myopathy, Spheroid Body
Broad-based gait, Distal muscle weakness, Neck flexor weakness, Tremor, Waddling gait, Muscle wea... OMIM:182920
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... OMIM:254800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Axonal degeneration,... ORPHA:88628
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination, Spasticity OMIM:618559
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Cerebral hypomyelination, Optic atrophy, Tremor, Cerebella... ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor, Abnormal ne... OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera... OMIM:615369
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Cerebral atrophy, Delayed CNS myelination OMIM:618875
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocere... OMIM:616053
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Babinski sign, Peripheral axonal neuropathy, Spasticity, Waddling gait, Delayed CNS myelination, ... OMIM:619090
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerv... ORPHA:101077
Developmental And Epileptic Encephalopathy 91
Delayed myelination, Spasticity, Hypsarrhythmia, Seizure, Multifocal epileptiform discharges OMIM:617711
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Cerebral hypomyelination, Progressiv... ORPHA:438114
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Sensorineural hearing impairment, Chronic axonal neuropathy, Decreased number of large peripheral... OMIM:162400
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Mitochondrial Dna Depletion Syndrome 18
Clonus, Tongue fasciculations, Falls, Axonal degeneration OMIM:618811
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Sensorineural hearing impairment, Ataxia, Babinski sign, Distal sensory impairment, Gait disturba... OMIM:617882
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Peripheral axonal neuropathy, Limb ataxia OMIM:615957
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... ORPHA:423275
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... OMIM:616139
Roussy-Lévy Syndrome
Clumsiness, Limb ataxia, Decreased motor nerve conduction velocity, Babinski sign, Frequent falls... ORPHA:3115
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Sensory ataxia, Decreased sensory nerve conduction velocity, Impaired v... OMIM:609033
Schimke X-Linked Mental Retardation Syndrome
Hearing impairment, Choreoathetosis, Spasticity OMIM:312840
Spinocerebellar Ataxia 25
Ataxia, Abolished vibration sense, Babinski sign, Decreased number of peripheral myelinated nerve... OMIM:608703
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, B... OMIM:245570
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral... OMIM:617836
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Demyelinating peripheral neuropathy, Progressive cerebellar ata... ORPHA:504476
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
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, Type 4B3
Brain atrophy, Decreased nerve conduction velocity, Onion bulb formation, Distal sensory impairme... OMIM:615284
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Neonatal hypotonia, EEG ab... OMIM:617519
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... OMIM:125250
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Degeneration of anterior horn cells, Pelvic girdle muscle weakne... OMIM:253400
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... OMIM:617282
Abetalipoproteinemia
Ataxia, Peripheral demyelination, CNS demyelination OMIM:200100
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Opti... ORPHA:216873
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Dysmetria, Falls, Waddling gait, CNS hypomyelination OMIM:618863
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... OMIM:616341
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tongue fasciculations, Gait disturbance, Tremor, Impaired distal vibration sen... ORPHA:276435
Neuronopathy, Distal Hereditary Motor, Type Iid
Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Developmental And Epileptic Encephalopathy 17
Delayed myelination, Generalized tonic seizure, Chorea, Athetosis, Hypsarrhythmia, Dystonia OMIM:615473
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Spastic Paraplegia-Nephritis-Deafness Syndrome
Sensorineural hearing impairment, Paraplegia, Spasticity, Gait disturbance ORPHA:2820
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
You-Hoover-Fong Syndrome
Hearing impairment, Generalized hypotonia, Spasticity, Ataxia OMIM:616954
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... OMIM:615924
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia, Hypotonia ORPHA:85297
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... OMIM:616688
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... OMIM:600363
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyelinating motor neurop... ORPHA:99939
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed myelination, Exaggerated startle response, Spasticity, Cerebellar atrophy, CNS hypomyelin... OMIM:618367
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Progressive hearing impairment, Dystonia, Hypogonadism OMIM:616113
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:604360
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Developmental And Epileptic Encephalopathy 54
EEG abnormality, Delayed myelination, Seizure OMIM:617391
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal se... OMIM:608720
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination, Dystonia OMIM:618910
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... ORPHA:210571
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Steppage gait, Distal sensory impairment, Axonal loss OMIM:614455
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... OMIM:612674
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:139426
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials OMIM:618876
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Febrile seizure ... ORPHA:477673
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, Inability to walk, Cerebral atrophy, Leukodystrophy, Babinski sign, Hy... OMIM:616420
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy OMIM:614482
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Babinski sign, Head titubation, Optic atroph... OMIM:618688
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Inabi... ORPHA:2590
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Abnormal autonomic nervous system physiology, EEG with focal epileptiform di... ORPHA:101046
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Infertility, Ataxia, Impaired vibration sensation at ankles, Reduced sperm moti... ORPHA:320391
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... OMIM:613855
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Degeneration of anterior horn cells, Myoclonus, Facial palsy, Tongue fasciculations,... OMIM:159950
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Gliosis, Tremor, CNS demyelination, Peripheral demyelination OMIM:220111
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure, EEG abnormality OMIM:610003
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... OMIM:608029
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Lower limb spasticity, Inability to walk, Short stature OMIM:619639
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... ORPHA:139578
Spastic Ataxia 3, Autosomal Recessive
Dysmetria, Mild hearing impairment, Gait ataxia, Spasticity, Dystonia, Hearing impairment, Spasti... OMIM:611390
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Optic atrophy, Spasticity, C... OMIM:616239
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Demyelinating motor neuropathy, Limb ataxia, Head tremor, Demyelinating sensor... ORPHA:101085
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... ORPHA:1175
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, Inability to walk, Myoclonus, Delayed CNS myelination, CNS hypomyelination OMIM:616158
Deafness, X-Linked 5, With Peripheral Neuropathy
Sensory axonal neuropathy, Abnormal middle ear reflexes, Distal sensory impairment, Tinnitus, Uns... OMIM:300614
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Abno... OMIM:162350
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Peripheral axonal ... ORPHA:320406
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Gait disturbance, ... ORPHA:98764
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Delayed myelination, Difficulty walking, Spasticity, Seizure OMIM:617393
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Peripheral hypomyelination, Spasticity, Peripheral demyelination, Absent brainstem audito... OMIM:609136
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:79137
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia,... OMIM:610357
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Dystonia OMIM:616763
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Cerebral cortical atroph... OMIM:604326
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... OMIM:615643
Combined Saposin Deficiency
Neuronal loss in central nervous system, Myoclonus, Babinski sign, Hyperkinetic movements, Optic ... OMIM:611721
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Optic atrophy, Tremor, Difficulty w... ORPHA:137898
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypertonia, Dysmetria, Intention tremor, Leukodystrophy, Abnormal pyramidal sig... OMIM:617964
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, EEG with ... ORPHA:36387
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Leukoencephalopathy, Cystic, Without Megalencephaly
Sensorineural hearing impairment, Ataxia, Athetosis, Spasticity, Abnormal CNS myelination, Dystonia OMIM:612951
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... OMIM:619911
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Decreased nerve conduction v... OMIM:603516
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P... ORPHA:101082
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, Action tremor, EEG abnormality, EEG with polyspi... OMIM:617665
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... OMIM:616409
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Spasticity, Apraxia, Abnormality of peripheral nerve conduction, Abnorma... ORPHA:101001
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Tinnitus, Frequent falls, Gait ataxia, Spasticity OMIM:617691
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb d... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... ORPHA:1941
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Cerebral hypomyelin... OMIM:612164
Hsd10 Disease
Ataxia, Infantile muscular hypotonia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tr... ORPHA:391417
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Babinski sign, Spastic paraplegia, Spastic gait, Postu... OMIM:270685
Chorea, Benign Familial
Chorea OMIM:215450
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, Spastic paraparesis, Hand apraxia, Babinski sign, Gait disturbance, Difficulty... ORPHA:280229
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy, Distal sensory impairment OMIM:616668
Autosomal Dominant Spastic Paraplegia Type 19
Female sexual dysfunction, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski... ORPHA:100999
Intellectual Developmental Disorder, Autosomal Recessive 60
Delayed CNS myelination OMIM:617432
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity OMIM:222350
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Postural tremor, Babinski sign, Abnormal motor nerve conduction velocity ORPHA:100998
Spastic Paraplegia 44, Autosomal Recessive
Sensorineural hearing impairment, Upper limb spasticity, Dysmetria, Intention tremor, Babinski si... OMIM:613206
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Focal hemiclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Toni... OMIM:619317
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Sensorineural hearing impairment, Ataxia, Difficulty walking, Delayed peripheral myelination, Pro... ORPHA:464282
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Babinski sign, Rigidity, ... ORPHA:100984
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dysmyelinating leukodystrophy, Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign... OMIM:612319
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... ORPHA:2382
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Opisthotonus,... OMIM:619913
Autosomal Recessive Spastic Paraplegia Type 60
Impaired vibration sensation in the lower limbs, Limb hypertonia, Spastic paraplegia, Lower limb ... ORPHA:401800
Gabriele-De Vries Syndrome
Abnormal pinna morphology, Delayed myelination, Tremor, Waddling gait, Posteriorly rotated ears, ... OMIM:617557
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum OMIM:609161
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Hypotonia, Hearing imp... ORPHA:139485
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Fasciculations, Decreased motor nerve conduction velocity OMIM:606595
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... ORPHA:99027
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity OMIM:618912
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... ORPHA:284324
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Optic atrophy, Tremor, Spasticity, Delayed CNS myelination OMIM:300983
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Atypical absence seizure, Focal motor seizure, Bilateral tonic-clo... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Hypertonia, Inability to walk, Spasticity, Delayed CNS myelination, CNS hypomyelination OMIM:616577
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Broad-based gait, Inability to walk, Spasticity, Delayed CNS myelination OMIM:619884
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Spasticity, Dystonia OMIM:617829
Charcot-Marie-Tooth Disease Type 4D