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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
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R... OMIM:607136
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Babinski sign, Spastic paraplegia, Abnormal au... ORPHA:139578
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... ORPHA:391417
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Spasticity OMIM:617829
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clon... OMIM:619913
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Seizure, Tongue fasciculations, Leukodystrophy OMIM:619851
Developmental And Epileptic Encephalopathy 29
Chorea, Cerebral atrophy, CNS hypomyelination, Blepharospasm, Limb dystonia, Spasticity OMIM:616339
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... OMIM:610185
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... OMIM:620011
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Gliosis, Neurodegeneration, Spasticity, N... OMIM:616239
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Generalized non-motor (absence) seizure, D... OMIM:617810
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... OMIM:616230
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen... OMIM:615643
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... OMIM:612319
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Babinski sign,... OMIM:270685
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:608636
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... ORPHA:401768
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1188
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait... OMIM:620317
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Coenzyme Q10 Deficiency, Primary, 8
Hypotonia, Peripheral demyelination, Generalized hypotonia, Hearing impairment OMIM:616733
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... OMIM:210000
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Delayed myelination, Optic atrophy, Hemiparesis, Status epilepticus, Myoclonus, A... OMIM:615338
Autosomal Dominant Spastic Paraplegia Type 17
Babinski sign, Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity ORPHA:100998
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of ... OMIM:610743
Spinocerebellar Ataxia Type 18
Peripheral axonal neuropathy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, He... ORPHA:98771
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Sensorineural hearing imp... OMIM:270800
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd... OMIM:618049
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis OMIM:302802
Leukodystrophy, Childhood-Onset, Remitting
Gait disturbance, Leukodystrophy OMIM:619864
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Progressive Myoclonic Epilepsy With Dystonia
Delayed CNS myelination, Diffuse cerebral atrophy, Abnormal pyramidal sign, Optic atrophy, Hemipa... ORPHA:352596
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Cerebellar atrophy, Clonus, Delayed myelination, Chorea, Spastic tetrapl... OMIM:613811
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Inability to walk, Broad-based gait, Delayed CNS myelination, Spasticity OMIM:619884
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Muscle weakness, Tongue fasciculations, Hand tremor OMIM:253550
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Babinski sign, Optic atrophy, CNS hypomyelination, Frontal cortical atrophy, S... OMIM:618437
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, Allodynia, CNS demyelination... ORPHA:221091
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... ORPHA:99950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Neurodevelopmental Disorder With Involuntary Movements
Delayed CNS myelination, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms,... OMIM:617493
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Focal mo... OMIM:617711
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... OMIM:616710
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... OMIM:266100
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Ataxia, Hemiplegia/hemiparesis, Vertigo, Optic atrophy, Abnormal pyramidal sign, Gait disturbance ORPHA:3151
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Ankle clonus OMIM:159550
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Optic atrophy, Hypotonia, Dysmetria, Dystonia, Spasticity, Hearing imp... OMIM:617954
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Poor coordination, Axonal degeneration, Neurodegeneration,... ORPHA:478029
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Seizure, Decreased nerve conduction velocity, Vocal cord paralysis ORPHA:397744
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss,... ORPHA:98756
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Incoordination, Ataxia, Dystonia, Episodic generalized hypotonia, S... OMIM:601338
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure OMIM:612621
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, O... OMIM:617193
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig... ORPHA:98759
Episodic Ataxia Type 3
Episodic ataxia, Vertigo, Hemiplegia, Tinnitus ORPHA:79135
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia, Brain atrophy, Cer... ORPHA:306669
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Seizure, Progressi... ORPHA:309263
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... ORPHA:79263
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Peripheral axonal neuropathy, Sensorineural hearing impairment, Babinski s... ORPHA:352641
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, S... OMIM:619301
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy ORPHA:2821
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... ORPHA:33445
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to w... OMIM:619653
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Macrotia, Waddling gait OMIM:616269
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... ORPHA:453521
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Delayed myelin... OMIM:616756
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Spastic paraplegia, Babinsk... ORPHA:100988
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Dystonia, Spasticity OMIM:619286
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Abnormal pyramidal si... ORPHA:98
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Gait ataxia, Seizu... ORPHA:309256
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Postural tremor, Triceps weakness, Quadriceps muscle ... ORPHA:99947
Multiple Sulfatase Deficiency
Ataxia, Neonatal hypotonia, CNS demyelination, Spasticity, Peripheral demyelination, Hearing impa... OMIM:272200
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Clumsiness, Gait ataxia,... OMIM:616127
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Ch... OMIM:619725
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Cerebellar atrophy, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Multifocal seizures, Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Status ... OMIM:615905
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... OMIM:256850
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607831
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... ORPHA:289266
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Chor... ORPHA:225154
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Delayed CNS myelination, To... OMIM:619606
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Ataxia, Cerebral atrophy, CNS hyp... OMIM:619260
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Dysmetria, CNS hypomyelination, Leu... OMIM:619576
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Axial hypotonia, Ataxia, Low-set ears OMIM:618951
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,... ORPHA:319514
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy, CNS hypomyelination OMIM:615760
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Babinski sign, Gait disturbance, Myoclonus, Apraxia, CNS demyelination, Cerebral... OMIM:618193
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthr... ORPHA:313772
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb m... ORPHA:466768
Spinocerebellar Ataxia Type 36
Ataxia, Hearing impairment, Vertigo, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ... ORPHA:276198
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Oculomotor apraxia, Sensorineural hearing impairment, Unsteady gait, Dysmetria, G... OMIM:614867
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babin... OMIM:616795
Ddost-Cdg
Tremor, Oromotor apraxia, CNS hypomyelination ORPHA:300536
Succinic Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) ... OMIM:271980
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys... ORPHA:53583
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... OMIM:618877
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, EEG abnormality, Focal impaired awareness seizur... OMIM:613970
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) se... OMIM:619157
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... ORPHA:101076
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Infantile spasms, Tremor, Growth delay, Spasticity OMIM:278780
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus... OMIM:619065
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Pseudobulbar paralysis... OMIM:616140
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Optic atrophy, Dysmetria, Bradykinesia, Progressive cere... ORPHA:98755
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Optic disc pallor, Bilateral tonic-clonic seizure, Pseudobulbar paralysi... OMIM:617082
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Hypotonia OMIM:619470
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Hearing impairmen... OMIM:300623
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa... OMIM:615889
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Seizure, Spasticity, Ataxia OMIM:300067
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Pro... OMIM:613954
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, S... OMIM:619302
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paralysis, Seizure, Tongue ... OMIM:614399
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Babinski sign, Focal to... OMIM:617105
Spinocerebellar Ataxia 34
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... OMIM:133190
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block ORPHA:641
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Del... OMIM:618451
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... OMIM:205100
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Sandhoff Disease, Infantile Form
Exaggerated startle response, CNS hypomyelination, Myoclonus, Spasticity, Cerebral cortical atrophy ORPHA:309155
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Gen... OMIM:617384
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Axial hypotonia, Ataxia, Parkinsonism, Facial hypotonia, Dystonia, Tremor, Babins... OMIM:300055
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... ORPHA:401866
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Seizure, P... ORPHA:309271
Spinocerebellar Ataxia 27B, Late-Onset
Vertigo, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor,... ORPHA:352649
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment, Infantile muscular hypotonia ORPHA:79234
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Lissencephaly 8
Appendicular spasticity, Cerebral hypomyelination, Optic atrophy OMIM:617255
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Seizure, Delayed myelination, Unsteady gait, Gait ataxia OMIM:618158
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... ORPHA:53351
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Choreoathetosi... OMIM:609056
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, EEG abnormality, Dystonia OMIM:612126
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... OMIM:616505
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a... OMIM:614831
Autosomal Dominant Spastic Paraplegia Type 9B
Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Focal d... ORPHA:447757
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Difficulty walking, Leukodystrophy, Spasticity OMIM:618242
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy, Spasticity OMIM:617613
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Severe demyelination of the white matter, Inability to walk, CNS hypomyelination, Difficu... ORPHA:481152
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur... ORPHA:209370
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... ORPHA:3124
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Delayed myelination, Optic atrophy, Cerebral atrophy, CNS hypomyelination, ... OMIM:614261
Developmental And Epileptic Encephalopathy 35
Delayed CNS myelination, Brain atrophy, Limb tremor, Cerebral atrophy OMIM:616647
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Poor head control, Myoclonus, Dystonia OMIM:619651
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Inability to walk, Gait ataxia, Opisthotonus... OMIM:619580
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Crypt... OMIM:618917
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Abnormal pyramidal sign, Spastic tetraplegia, Optic ... OMIM:256600
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Babinski sign, Cerebral atrophy, Choreo... OMIM:278800
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, Proximal muscle weakness,... OMIM:608627
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity OMIM:613287
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Tetraparesis, Tetraplegia, Decreased amplitude of sensory ac... ORPHA:85446
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Incoordination, Ataxia, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Dysd... OMIM:616204
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Ataxia, Sensorineural hearing impairment, Impaired distal vibration... OMIM:614871
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... OMIM:606703
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hearing impairment, Inability to walk, Chorea, Babinsk... ORPHA:95
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Foxg1 Syndrome
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Delayed mye... ORPHA:561854
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormal peripheral myelination, Testicular dysgenesis, Primary amenorrhea, Steppag... ORPHA:168563
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Posteriorly rotated... OMIM:618598
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Babinski sign, CNS hypomyelination, Facial diplegia, Dystonia, Spasticity OMIM:618186
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Epileptic spasm, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhy... ORPHA:485421
Sialidosis Type 1
Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, Seizure, EEG abnormality, My... ORPHA:812
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Tangier Disease
Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip... OMIM:205400
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Vertigo, Dystonia, Hemiplegia, Tinnitus ORPHA:97
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Delayed CNS myelination, Diffuse cerebral atrophy, Clonus, Hypertonia, Spasticity OMIM:613668
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Glutaric Acidemia I
Rigidity, Delayed myelination, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmet... OMIM:231670
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Babinski sig... ORPHA:93952
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypotonia, Progressive hearing impairment, Hypog... ORPHA:97229
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, EEG w... OMIM:617976
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation, Spasticity, Hearing... OMIM:611390
Richards-Rundle Syndrome
Ataxia, Hypergonadotropic hypogonadism, Hypertonia, Gait disturbance, Hearing impairment ORPHA:1399
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... OMIM:301058
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Facial palsy, Hearing impairment, Optic atrophy, Cogwheel rigidity, Bradykinesia, Distal ... ORPHA:254886
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Delayed myelination, Seizure, Athetosis, Gait disturbance, Myoclonus... OMIM:618241
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Seizure, Ataxia ORPHA:1933
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, CNS hypomyelination OMIM:619908
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Babinski sign, Spastic ... OMIM:256840
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Optic disc pallor, Involuntary movements, Decreased nerve conduction veloc... ORPHA:565624
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Progressive external ophthalmoplegia, Peripheral axonal n... ORPHA:276244
Spinocerebellar Ataxia 36
Incoordination, Ataxia, Babinski sign, Hypotonia, Limb ataxia, Gait ataxia, Hypertonia, Tongue fa... OMIM:614153
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oculo... ORPHA:208447
East Syndrome
Peripheral axonal neuropathy, Ataxia, Inability to walk, Sensorineural hearing impairment, Periph... ORPHA:199343
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Gowers sign, Upper limb muscle weakness, Fasciculations, Shuffling gait, L... ORPHA:209335
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... ORPHA:289560
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:99949
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Periodic paralysis OMIM:614198
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Ataxia, Clonus, Inability to walk, Babinski sign, Spastic paraplegia, Sp... OMIM:300523
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Optic atrophy, Dysmetria, CNS hypomyelination, Leuko... OMIM:619708
Developmental And Epileptic Encephalopathy 72
Inability to walk, Delayed CNS myelination, Hyperkinetic movements, Cerebral atrophy OMIM:618374
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, EEG with focal sharp waves... OMIM:617302
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal s... OMIM:607483
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Athetosis, Dystonia, Spasticity OMIM:617132
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Corpus callosum atrophy, Babinski sign, Impaired distal vibration sensation, Spastic para... OMIM:616586
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypotonia, Large fleshy ears, Hypertonia OMIM:619556
Snijders Blok-Fisher Syndrome
Delayed CNS myelination, Facial hypotonia, Cryptorchidism, Cupped ear, Opisthotonus, Choreoatheto... OMIM:618604
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Delayed myelination, Optic atrophy, Cerebral hypomyelination, Spasticity OMIM:616683
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Growth delay, Seizure, Axonal ... OMIM:252160
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin... OMIM:128100
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... ORPHA:254930
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Delayed CNS myelination, EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizur... OMIM:619428
Hypermanganesemia With Dystonia 2
Axial hypotonia, Generalized dystonia, Parkinsonism, Dystonia, Tremor, Inability to walk, Babinsk... OMIM:617013
Spinocerebellar Ataxia 21
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Lim... OMIM:607454
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... ORPHA:98897
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Axial dystonia, Spastic paraplegia, Seizure, Decreased... OMIM:619026
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Babinski sign, Unsteady gait, F... ORPHA:98761
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Cednik Syndrome
Seizure, Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction ORPHA:66631
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Mu... OMIM:617166
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Generalized hypotonia, Difficulty... ORPHA:529665
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairmen... OMIM:105210
Piebald Trait With Neurologic Defects
Ataxia, Hearing impairment OMIM:172850
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Diaphragmatic paralysis, Axo... OMIM:604320
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Severe demyelination of the white matter, Gait ataxia, Growth del... ORPHA:488635
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Br... ORPHA:13
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Gait disturbance, Sp... ORPHA:909
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:313200
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Myoclonus, Tongue fasciculations, Cerebral cortical atr... OMIM:614922
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertoni... OMIM:261640
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Poor fine motor coordination, Decreased nerve conduction velocity, Frequent falls ORPHA:435387
Leukodystrophy, Hypomyelinating, 25
Delayed CNS myelination, Dystonia, Gait ataxia OMIM:620243
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Decreased nerve conduction velocity, Facial diplegia, Fasciculations, Frequ... ORPHA:329478
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis OMIM:616286
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, ... ORPHA:95433
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Glutamine Deficiency, Congenital
Brain atrophy, CNS hypomyelination OMIM:610015
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Hypsarrhythmia, Seizure, Limb hypertonia OMIM:617162
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Delayed ... ORPHA:485350
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Pseudopapilledema, Tetraparesis ORPHA:140989
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Abnormal pyramidal sign, Spastic tetrap... OMIM:615419
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Spinocerebellar Ataxia 6
Incoordination, Ataxia, Vertigo, Abnormal vestibulo-ocular reflex, Slurred speech, Dysmetria, Pro... OMIM:183086
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... ORPHA:99956
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Tremor, Sei... ORPHA:3077
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Sensorineural hearing impairment, Hypertonia, Gait disturbance ORPHA:1192
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... ORPHA:1187
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... OMIM:164400
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Inability to walk OMIM:618006
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Tremor, Chorea, Impaired distal vibra... OMIM:606002
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Brain atrophy, Cerebral atrophy, Abnormal myelination ORPHA:85179
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Inability to walk, Tetraplegia, Cerebral atrophy, Abnormal CNS myelination, G... OMIM:619641
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Hypertonia, Gliosis, Spasticity OMIM:615095
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, EEG abnormality, Low-set ears, Infantile muscular hypotonia, Spasticity OMIM:618718
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... ORPHA:320375
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Sandhoff Disease
Exaggerated startle response, Ataxia, CNS hypomyelination, Fasciculations, Spasticity, Upper moto... OMIM:268800
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,... OMIM:168600
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... ORPHA:98768
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy, Athetosis, Demyelinat... OMIM:614559
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... OMIM:617290
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized... OMIM:233910
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Optic atrophy, Hypertonia, Leukodystrophy, Dystonia, CNS demyelination OMIM:264470
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, Optic atrophy, Choreoathetosis, Bilateral sensorineural hearing ... OMIM:619422
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Delayed myelination, Seizure, Generalized myoclonic seizure, Spasticity OMIM:609304
Alg2-Cdg
Cerebral hypomyelination ORPHA:79326
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Brain atrophy, CNS hypomyelination OMIM:615966
Intellectual Developmental Disorder, Autosomal Recessive 79
Delayed CNS myelination, Incoordination, Broad-based gait, Gait ataxia, Intention tremor OMIM:620393
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Dystonia, Progressive sensorineural hearing... OMIM:304700
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Leukodystrophy, Progressive ... OMIM:612233
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Slurred speech, Ataxia, Myoclonus OMIM:274240
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Gliosis, Dystonia, Neuronal ... ORPHA:683
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spasticity, D... ORPHA:496641
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Optic atrophy, Spastic tetraplegia, Dystonia, CNS demyelination OMIM:618237
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor... OMIM:618170
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Variegate Porphyria
Paralysis OMIM:176200
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... ORPHA:206436
Cystathioninuria
Cystathioninemia, Tremor ORPHA:212
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Growth delay, Seizure, Axonal loss, Glio... OMIM:252150
Spinocerebellar Ataxia Type 3
Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, ... ORPHA:98757
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia OMIM:615651
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spasti... OMIM:615031
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... OMIM:271900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Abnormal pyramidal sign, Dysmetria, Abnormality of peripheral nerve conduction, Intention... ORPHA:48431
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Vocal cord paresis ORPHA:600
Japanese Encephalitis
Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res... ORPHA:79139
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper lim... ORPHA:457240
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Brain atrophy, Limb dystonia, Cerebral hypomyelination, Spasticity, Cerebral c... ORPHA:457351
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Sensorineural hearing... ORPHA:255210
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Diffuse demyelination of the cerebr... OMIM:203450
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Episodic Ataxia, Type 4
Episodic ataxia, Spasticity, Vertigo, Tinnitus OMIM:606552
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Ataxia, Falls, Leukodystrophy, Dystonia, Spasticity OMIM:619224
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Primary amenorrhea, Distal sensory imp... OMIM:617675
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Hypoesth... OMIM:619737
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Oculopharyngodistal Myopathy 3
Tremor, Conductive hearing impairment, Sensorineural hearing impairment, Ataxia OMIM:619473
Hypokalemic Periodic Paralysis
Paralysis, Episodic flaccid weakness, Respiratory paralysis, Late-onset proximal muscle weakness,... ORPHA:681
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Brain atrophy, Leukodystrophy, Spasticity OMIM:618225
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Rigidity, Tremor, Growth delay, Bradykinesia, Dystonia, Muscle... ORPHA:70594
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... ORPHA:803
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Optic atrophy, Tetra... OMIM:616034
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Myo... OMIM:614498
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Intellectual Developmental Disorder, X-Linked 12
Tremor, Cryptorchidism, Sensorineural hearing impairment, Hypotonia, Hyperkinetic movements, Gait... OMIM:300957
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Distal muscle weakness, Short stature, Babinski sign, Hoff... OMIM:601162
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic se... ORPHA:98784
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypertonia, CNS hypomyelination OMIM:618622
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... OMIM:613280
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Brown-Vialetto-Van Laere Syndrome 1
Bulbar palsy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Generaliz... OMIM:211530
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Delayed CNS myelination, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity OMIM:615599
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Axonal loss, Positive... OMIM:614575
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesis, Inability to walk, Opt... OMIM:617481
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Delayed myelination, Cerebellar gliosis, Abnormal pyramidal sign, CNS hypomyelina... ORPHA:3008
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Paraparesis, Delayed my... OMIM:617854
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Abnormality of... OMIM:600142
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Growth delay, Hemiplegia OMIM:614483
Combined Oxidative Phosphorylation Deficiency 53
Spasticity, CNS hypomyelination OMIM:619423
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... OMIM:272750
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Tremor, Polyminimyoclonus, First dorsal interossei muscle weakness, Impai... OMIM:619574
Myoclonus, Intractable, Neonatal
Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus OMIM:617235
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Hippocampal atrophy, Limb hypertonia OMIM:618922
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Choreoathetosis, Athetosis, Delayed CNS myelination, Chorea OMIM:309541
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Delayed CNS myelination, Ataxia, Myoclonus, Dystonia, Spasticity OMIM:620094
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro... OMIM:617710
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... ORPHA:98808
Peho Syndrome
Severe muscular hypotonia, Optic atrophy, Hypsarrhythmia, Myoclonus, Generalized hypotonia, Perip... OMIM:260565
Leigh Syndrome
Ataxia, Optic atrophy, Gliosis, Dystonia, CNS demyelination, Spasticity OMIM:256000
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Pseudohypoaldosteronism Type 2
Growth delay, Short stature, Muscle weakness, Periodic paralysis ORPHA:757
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... OMIM:606070
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Obesity, Hyperphagia, And Developmental Delay
Seizure, Delayed myelination, Generalized non-motor (absence) seizure OMIM:613886
Neuromuscular Oculoauditory Syndrome
Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural hearing impairment, ... OMIM:618733
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination, Spasticity, Myoclonus OMIM:612949
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 1
Delayed CNS myelination, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hyperton... OMIM:308350
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Inability to w... ORPHA:139396
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Ataxia, Sensorineural hearing impairment, Hypotonia, Dysdiadochokinesis, Peripheral hypomyelinati... OMIM:612780
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, ... ORPHA:168491
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Fa... OMIM:157640
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Hypotonia, Abnormal auditory evoked potentials OMIM:617523
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Tremor, Anteverted ears, Poor coordination, Hypotonia, Gait disturbance, Abnormality of p... ORPHA:544254
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, CNS hypomyelination, H... OMIM:618367
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Babinski ... OMIM:616192
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal... OMIM:260600
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Gai... ORPHA:458803
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Astro... OMIM:601104
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Protruding ear, Hypertonia, Leukodystrophy, Otitis media, Intention tremor, Ataxia, Hypsa... OMIM:619475
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Proximal muscle weakness, Tremor, Gowers sign, Chor... OMIM:615673
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Bab... ORPHA:157846
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Impaired vibrat... ORPHA:447753
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ... ORPHA:98760
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Hypsarrhythmia, Myoclon... OMIM:619877
Sialidosis Type 2
Tremor, Ataxia, Generalized hypotonia, Hearing impairment ORPHA:87876
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Abnormal pyramidal sign ORPHA:93476
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Seizure, Choreoathetosis, ... ORPHA:765
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Impaired temperature sensation, Peroneal muscle atrophy, Hand muscle weaknes... ORPHA:90658
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy OMIM:312170
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia OMIM:610651
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, ... ORPHA:77299
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Spastic diplegia, Protruding ear, Generalized hypotonia, Dystonia, Chronic otitis media, ... ORPHA:480907
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Seizure, Decerebrate rigidit... ORPHA:512
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination, Progressive spastic paraplegia ORPHA:521390
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Periodic paralysis OMIM:613345
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Delayed myelination, Multifocal epileptiform discharges, EEG with... ORPHA:488613
Multiple Sclerosis, Susceptibility To
CNS demyelination, Spasticity, Incoordination OMIM:126200
Machado-Joseph Disease Type 1
Progressive external ophthalmoplegia, Substantia nigra gliosis, Facial-lingual fasciculations, Ba... ORPHA:276238
Machado-Joseph Disease Type 2
Progressive external ophthalmoplegia, Substantia nigra gliosis, Facial-lingual fasciculations, Ba... ORPHA:276241
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... OMIM:619338
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Optic atrophy, Brain atrophy, Leukodystrophy OMIM:618226
Pyruvate Carboxylase Deficiency
Athetosis, Clonus, Leukodystrophy OMIM:266150
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, C... OMIM:610217
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Joubert Syndrome 33
Oculomotor apraxia, Delayed CNS myelination, Ataxia OMIM:617767
Marbach-Rustad Progeroid Syndrome
Intention tremor, CNS hypomyelination OMIM:619322
Fucosidosis
Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Dystonia, Hemiplegia, Spastic gait OMIM:230000
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Axial hypotonia, Head titubation, Vestibular areflexia, Spas... ORPHA:3240
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Muscle weakness, Periodic paralysis OMIM:170400
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Gait ataxia OMIM:616652
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Migraine, Familial Hemiplegic, 2
Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Grow... OMIM:615716
Friedreich Ataxia
Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conductio... OMIM:229300
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Cerebral hypomyelination, Spasti... ORPHA:79351
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Tremor, Growth delay, Intrauterine growth retardation, Muscle weakness OMIM:617744
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypogonadotropic hypogon... ORPHA:298
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... ORPHA:309246
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... OMIM:607060
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Optic atrophy OMIM:601152
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Seizure, Optic atrophy, Abnormal myelination ORPHA:352682
Ataxia With Vitamin E Deficiency
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... OMIM:277460
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic... ORPHA:90321
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Low... ORPHA:845
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Spastic tetraplegia, Sei... OMIM:615663
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Dystonia, Spasticity OMIM:610333
Marchiafava-Bignami Disease
Ataxia, Facial palsy, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Gait disturban... ORPHA:221074
Ataxia-Telangiectasia
Short stature, Ataxia, Tremor, Seizure, Gait disturbance, Delayed puberty, Spasticity, Abnormal t... ORPHA:100
Glioblastoma
Seizure, Paralysis ORPHA:360
Sneddon Syndrome
Tremor, Chorea, Vertigo, Hemiparesis ORPHA:820
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Leukodystrophy, Limb dystonia OMIM:620269
Infantile Neuroaxonal Dystrophy
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Optic atrophy, Seizure, Abnormal autonomic... ORPHA:35069
Schilder Disease
Ankle clonus, CNS demyelination, Ataxia ORPHA:59298
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, CNS hypomyelination ORPHA:88618
Leber Optic Atrophy
Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Dystonia OMIM:535000
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Seizure, Optic atrophy, Ataxia OMIM:614863
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epileptiform disc... OMIM:619827
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Optic atrophy, Cere... ORPHA:79282
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Ataxia, Hearing impairment, Intention tremor OMIM:117300
Trisomy X
Tremor, Seizure, Secondary amenorrhea ORPHA:3375
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... OMIM:619983
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Gait disturbance, Myoclonus, Oculomotor apraxia, Cerebral hypomyelination ORPHA:247262
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, EEG with burst suppression, Hypsarrhythmia, Seizure, EEG abnormality, Un... ORPHA:1934
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Hypotonia, D... OMIM:617988
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Primary amenorrhea, Progressiv... ORPHA:502423
Progressive Multifocal Leukoencephalopathy
Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemiplegia/hemiparesis, Abnormal ol... ORPHA:217260
11Q22.2Q22.3 Microdeletion Syndrome
Delayed myelination, Abnormal social behavior, Poor head control ORPHA:444002
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, CNS hypomyelination, Hypertonia, Diff... ORPHA:86309
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Dystonia, Short s... OMIM:168605
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Amish Nemaline Myopathy
Tremor, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Optic disc pallor, Cerebral atrophy, Leukodystrophy, Dystonia OMIM:617762
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Pulsatile tinnitus, Tremor, Cranial nerve compression, Paroxysmal... ORPHA:94080
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypotonia, Generalized hyp... OMIM:109120
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
D-Glyceric Aciduria
Delayed CNS myelination, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Spastic tetraple... OMIM:220120
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Delayed CNS myelination, Corpus callosum atrophy, Inability to walk, Babinski... OMIM:617339
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... ORPHA:329308
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... ORPHA:48818
D-2-Hydroxyglutaric Aciduria 1
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclon... OMIM:600721
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait disturbance ORPHA:83629
Waardenburg Syndrome, Type 4A
Ataxia, Leukodystrophy, Spastic paraparesis OMIM:277580
Scheie Syndrome
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis ORPHA:93474
Wilson Disease
Dystonia, Poor motor coordination, Tremor, Rigidity, Decreased nerve conduction velocity, Hand tr... OMIM:277900
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... OMIM:300607
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Young-Onset Parkinson Disease
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Gait imbalanc... ORPHA:2828
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, Ophthalmoplegia, Short stature, Muscle weakness ORPHA:457365
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Paralysis, Focal-onset seizure, Status epilepticus, Abnormal autonomic... ORPHA:83601
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Gliosis, Neurodegeneration, Br... OMIM:214150
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Axial hypotonia, Hearing impairment, Tremor, Cryptorchidism, Fascic... OMIM:620327
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Vocal cord paralysis, Optic atrophy, Hypsarrhythmia, Seizure, Increased cup-to-d... ORPHA:500144
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Delayed CNS myelination, Brain atrophy, Exaggerated startle response OMIM:620114
Cockayne Syndrome A
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Abnormal pinna morp... OMIM:216400
Chediak-Higashi Syndrome
Tremor, Seizure, Decreased nerve conduction velocity, Ataxia OMIM:214500
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Babinski sign, Abnormal pyramida... ORPHA:79138
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis, Muscle weakness OMIM:620161
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Clonus, Hypertonia, Myoclonic spasms, Brain atrophy, Cerebral hypomyelination ORPHA:447997
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Hearing impairment OMIM:278760
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... OMIM:146500
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Ataxia, Optic atrophy, Abnormal social behavior, Upper motor n... ORPHA:530983
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... ORPHA:314404
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Hypergonadotropic hypogonadism, Tremor, Sensorineural hearing impairment, Hypotonia, Myoc... OMIM:607426
Poliomyelitis
Bulbar palsy, Paralysis, Paraparesis, Inability to walk, Upper limb muscle weakness, Hyperkinetic... ORPHA:2912
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Wolfram Syndrome 1
Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Testicular atrophy OMIM:222300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina... ORPHA:480864
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Kallmann Syndrome
Dyspareunia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Sensorineural hearing... ORPHA:478
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Gene... ORPHA:456312
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Spastic tetraplegia, CNS hypomyelination OMIM:619306
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, EEG ... ORPHA:98794
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Abnormal pinna morpholo... ORPHA:477817
Nipah Virus Disease
Tremor, Vertigo, Myoclonus ORPHA:99825
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, CNS hypomyelination, Hypertonia, Gliosis, Gait disturbance, Cerebral co... ORPHA:268261
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive c... ORPHA:431361
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impai... ORPHA:2388
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Tremor, Hypotonia, Dysmetria, Low-set ears, Truncal ataxia, CNS demyelination, ... OMIM:220111
Congenital Disorder Of Deglycosylation 1
Delayed CNS myelination, Involuntary movements, Chorea, Delayed myelination, Dysmetria, Myoclonic... OMIM:615273
Sneddon Syndrome
Tremor, Hemiplegia, Facial palsy, Impaired distal tactile sensation OMIM:182410
Hyperkalemic Periodic Paralysis
Episodic flaccid weakness, Periodic hyperkalemic paralysis OMIM:170500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine m... ORPHA:309854
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Clonus OMIM:620080
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling gait, Dystonia... ORPHA:411602
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Ataxia, Postnatal growth retardation, Abnormal pyramidal sign, Dys... ORPHA:453533
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Ophthalmoparesis, Episodic flaccid weakness, Hyp... ORPHA:682
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Leukodystrophy, S... OMIM:614299
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Abnormal pinna morp... OMIM:133540
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... ORPHA:268940
Classic Phenylketonuria
Tremor, Paraplegia, Growth delay, Seizure, Hypertonia, Hemiplegia ORPHA:79254
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Athetosis, Low-set ears, Lim... ORPHA:572798
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... ORPHA:646
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Optic atrophy, Spastic tetraplegia, Leukodystrophy OMIM:615330
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Delayed CNS myelination, Myoclonus, Cerebral atrophy OMIM:619609
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... OMIM:617281
Secondary Syringomyelia
Paraplegia, Progressive cerebellar ataxia, Pseudobulbar paralysis, Difficulty walking, CNS demyel... ORPHA:99857
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Severe muscular hypotonia, Poor motor coordination, Tremor, Rigidity, Chorea, V... ORPHA:25
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure, Cerebral dysmyelina... OMIM:261515
Aicardi-Goutieres Syndrome 5
Spasticity, Leukodystrophy OMIM:612952
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Sjogren-Larsson Syndrome
CNS demyelination, Spasticity, Spastic paraparesis OMIM:270200
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Progressive muscle weakness OMIM:605355
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Delayed CNS myelination, Bilateral tonic-clonic seizure OMIM:618832
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Cerebral atrophy, Myoclonus, Leukodystrophy OMIM:614462
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior ORPHA:1020
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Limb muscle weakness, Paralysis OMIM:612300
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... ORPHA:2203
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Cerebral dysmyelination, Infantile spasms, Tremor, I... ORPHA:72
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Crania... ORPHA:276621
Cockayne Syndrome
Optic disc pallor, Ataxia, Cerebral dysmyelination, Action tremor, Decreased nerve conduction vel... ORPHA:191
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Short stature, Bilateral tonic-clonic seizure with focal onset... OMIM:614947
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Congenital Disorder Of Glycosylation, Type Ij
Infantile spasms, Tremor, Hypsarrhythmia, Seizure, Hypertonia OMIM:608093
Chédiak-Higashi Syndrome
Ataxia, Parkinsonism, Tremor, Decreased nerve conduction velocity, Spastic paraplegia, Seizure ORPHA:167
Insulinoma
Tremor, Paresthesia, Abnormality of pain sensation, Lethargy, Neuroendocrine neoplasm ORPHA:97279
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Asparagine Synthetase Deficiency
Exaggerated startle response, Axial hypotonia, Optic nerve hypoplasia, Clonus, Tremor, Simple ear... OMIM:615574
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atrophy, Global brain atrophy OMIM:617186
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination, Hypertonia OMIM:611584
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Muscle weakness, Periodic paralysis OMIM:188580
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, EEG with focal spike waves, Ataxia, Generalized clonic seizure, Tremor, Fo... OMIM:619229
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy... ORPHA:395
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Leukodystrophy, Truncal ataxia OMIM:619051
Ataxia-Telangiectasia
Dystonia, Short stature, Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, ... OMIM:208900
Porphyria, Acute Intermittent
Seizure, Respiratory paralysis, Paralysis OMIM:176000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Paralysis, Astrocytosis, Hypertonia, Status epilepticus, My... OMIM:203700
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Tremor, Optic atrophy, Abnormal pyramidal si... OMIM:612199
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Seizure, Choreoathetosis, Hyperkinetic mo... OMIM:616271
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Facial palsy, Paralysis, Tremor, Focal... ORPHA:297
Combined Oxidative Phosphorylation Deficiency 4
Spasticity, Leukodystrophy, Opisthotonus OMIM:610678
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,... OMIM:256810
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Ataxia, Postnatal growth retardation, Dystonia, Dec... OMIM:616113
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ataxia, Tremor, Bilateral cryptorchidism, Cryptorchidism, Absent antihelix, Hypotonia, Gait ataxi... OMIM:300998
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... ORPHA:2131
Chromosome 18Q Deletion Syndrome
Delayed CNS myelination, Broad-based gait, Tremor, Cryptorchidism, Chorea, Poor coordination, Opt... OMIM:601808
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Peripheral axonal neuropathy, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia... ORPHA:254892
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Tremor, Hypotonia, Gait disturb... ORPHA:220497
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Inhalational Botulism
Muscle weakness, Paralysis ORPHA:254504
Joubert Syndrome
Ataxia, Aganglionic megacolon, Tremor, Hypotonia, Gait disturbance, Low-set ears, Oculomotor apraxia ORPHA:475
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, ... OMIM:617799
3-Methylglutaconic Aciduria, Type Viia
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic sei... OMIM:619835
Gabriele-De Vries Syndrome
Waddling gait, Delayed CNS myelination, Facial hypotonia, Posteriorly rotated ears, Tremor, Crypt... OMIM:617557
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Optic disc pallor, Dystonia, Inability to walk, Delayed myelination, Chorea, ... ORPHA:404454
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... ORPHA:79330
Leigh Syndrome
Cerebellar atrophy, Ataxia, Involuntary movements, Chorea, Optic atrophy, Spastic diplegia, Chore... ORPHA:506
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Paralysis OMIM:242100
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Hypogonadism, Ataxia ORPHA:79095
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Ophthalmoparesis, Episodic flaccid weakness, Respiratory paralysi... ORPHA:79102
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Tremor, Spastic diplegia, Thickened ears, Protruding ear, Gait disturbance, Gait imbalanc... OMIM:300966
Arnold-Chiari Malformation Type I
Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the vestibulocochl... ORPHA:268882
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Abnormal glossopharyngeal nerve morp... ORPHA:221098
Aicardi-Goutieres Syndrome 1
Inability to walk, Cerebral atrophy, Abnormality of extrapyramidal motor function, Dystonia, CNS ... OMIM:225750
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Wiedemann-Rautenstrauch Syndrome
Ataxia, Action tremor, Tremor, Optic atrophy, CNS hypomyelination, Hypertonia, Leukodystrophy, Tr... ORPHA:3455
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Otitis media OMIM:613179
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Ataxia, Facial palsy, Proximal muscle weakness, Tremor, External ophthalm... OMIM:164310
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Tremor, Hypotonia, Gait disturb... ORPHA:220493
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Gitelman Syndrome
Ataxia, Paralysis, Growth delay, Seizure, Delayed puberty OMIM:263800
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... ORPHA:98863
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Cerebral atrophy, Choreoathetosis, Leukodyst... OMIM:615471
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... ORPHA:98853
Alexander Disease
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, EE... ORPHA:58
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Crania... ORPHA:29072
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Seizure, Period... ORPHA:37553
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Respiratory insufficiency due to muscle weakness, Progressive muscle w... OMIM:615512
Multiple Sulfatase Deficiency
Seizure, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Paramyotonia Congenita Of Von Eulenburg
Cold paresis, Periodic hypokalemic paresis ORPHA:684
Hurler Syndrome
Abnormal nerve conduction velocity, Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis ORPHA:93473
Alg8-Cdg
Optic atrophy, Ataxia, Cerebral cortical atrophy, Leukodystrophy ORPHA:79325
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Paralysis, ... ORPHA:2072
Trisomy 10P
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Cerebral hypomyelination, Broad-based gait, Gait ataxia ORPHA:513456
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Abnormality of the autonomic nervous sy... ORPHA:43116
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Seizure, Abnormal myelination OMIM:617333
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia OMIM:201100
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Incoordination, Decreased number of large peripheral myelinated nerve fi... OMIM:223900
Immunodeficiency 23
Abnormal CNS myelination, Ataxia, Myoclonus, Cortical myoclonus OMIM:615816
Pineoblastoma
Papilledema, Seizure, Paralysis ORPHA:251909
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Generalized muscle weakness, Facial palsy, Clonus OMIM:619424
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno... ORPHA:51
African Trypanosomiasis
Papilledema, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor,... ORPHA:3385
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Low-set ears, Generalized hypotonia, Limb hy... ORPHA:401973
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity OMIM:256800
Combined Oxidative Phosphorylation Deficiency 3
Bilateral tonic-clonic seizure, Ataxia, Optic neuropathy, Tremor, Optic atrophy, Seizure, Dystoni... OMIM:610505
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... ORPHA:91347
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Acute Disseminated Encephalomyelitis
Ataxia, Involuntary movements, Diaphragmatic paralysis, Abnormal pyramidal sign, Hemiparesis, CNS... ORPHA:83597
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Seizure, Papilledema, Optic atrophy ORPHA:580
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination, Subcortical cerebral atrophy ORPHA:440713
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Hypotonia, Delayed peripheral myelination, Hearing impairment ORPHA:364577
Orofaciodigital Syndrome Xiv
Optic disc coloboma, CNS hypomyelination OMIM:615948
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression, Short stature OMIM:259730
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Delayed CNS myelination, Tremor, Babinski sign, Hypertonia, Brain atrophy, Spasticity OMIM:616539
Bohring-Opitz Syndrome
Short stature, Delayed peripheral myelination, Mesomelic/rhizomelic limb shortening, Seizure, Int... OMIM:605039
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials ORPHA:36386
Cockayne Syndrome Type 3
Optic disc pallor, Seizure, Abnormality of peripheral nerve conduction, Abnormal myelination, Dem... ORPHA:90324
Rere-Related Neurodevelopmental Syndrome
CNS demyelination, Optic atrophy ORPHA:494344
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Nonprogressive cerebellar ataxia, Abno... ORPHA:314647
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Sensorineural hearing impairment, Hypotonia, Hypertonia, Generalized hypotonia, D... OMIM:617248
Rift Valley Fever
Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Muscle weakness ORPHA:319251
Glycogen Storage Disease Ii
Abnormal CNS myelination, Diaphragmatic paralysis, Difficulty walking OMIM:232300
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination, Cerebral atrophy OMIM:614886
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Spasticity, CNS hypomyelination OMIM:619534
48,Xxxy Syndrome
Tremor, Abnormal social behavior ORPHA:96263
Distal Renal Tubular Acidosis
Short stature, Paralysis, Respiratory insufficiency due to muscle weakness, Growth delay, Muscle ... ORPHA:18
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Short stature, Periodic paralysis OMIM:170390
Hemophagocytic Lymphohistiocytosis, Familial, 2
Ataxia, Tetraplegia, Hypertonia, Hemiplegia, CNS demyelination OMIM:603553
Isolated Complex I Deficiency
Optic disc pallor, Optic neuropathy, Ataxia, Leukodystrophy ORPHA:2609
Hurler Syndrome
Abnormal CNS myelination, Neurodegeneration OMIM:607014
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior, Short stature, Optic nerve hypoplasia ORPHA:93932
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Spastic tetraplegia, Hypertonia, Dystonia, CNS demyelination, Cerebral cortical atrophy OMIM:620024
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Friedreich Ataxia 2
Babinski sign, Incoordination, Ataxia, Abnormality of peripheral nerve conduction OMIM:601992
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Babinski sign, Tongue fasciculat... OMIM:252010
Monosomy 18Q
Choreoathetosis, Seizure, Poor coordination, Abnormal myelination ORPHA:1600
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Paraplegia, Leukodystrophy ORPHA:79124
Acute Transverse Myelitis
Paraparesis, Babinski sign, Paraplegia, Abnormality of extrapyramidal motor function, Gait distur... ORPHA:139417
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy ORPHA:370997
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Leukodystrophy OMIM:601539
Gitelman Syndrome
Focal-onset seizure, Paralysis, Delayed puberty ORPHA:358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Inability to walk, Hypertonia ORPHA:1675
Tyrosinemia, Type I
Growth delay, Periodic paralysis OMIM:276700
Prader-Willi Syndrome Due To Translocation
Intrauterine growth retardation, Abnormal social behavior, Short stature, Impaired social interac... ORPHA:177907
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Postnatal growth retardation, Optic atrophy, Inappropriate laughter, Abnormal soc... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Postnatal growth retardation, Optic atrophy, Inappropriate laughter, Abnormal soc... ORPHA:363958
Rabson-Mendenhall Syndrome
CNS demyelination ORPHA:769
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Leukodystrophy OMIM:619575
Williams Syndrome
Ataxia, Short stature, Involuntary movements, Tremor, Dysmetria, Abnormality of extrapyramidal mo... ORPHA:904
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Abnormal social behavior, Pheochromocytoma, Carcinoid tumor ORPHA:805
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Orthostatic hypotension due to autonomic dysfunction... ORPHA:642
Degcags Syndrome
Vocal cord paralysis, Abnormal myelination OMIM:619488
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pmp22

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pmp22.

No publications found that use IMPC mice or data for Pmp22.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pmp22tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pmp22tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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