Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calnexin
Synonyms:
1110069N15Rik,  CNX

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Canx 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Spontaneous pain sensation, Difficulty walking, Motor conduction blo... ORPHA:2932
Null Syndrome
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Progressive spastic q... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral hypomyelination, Axonal l... OMIM:611228
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Sensory axona... ORPHA:98765
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Sensory ataxia, Vocal cord paresis, Basal lamina onion... OMIM:614895
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Dystonia, Basal ganglia gliosis, Hypertonia, Tetraparesis, Rigidity, Spasticity, At... ORPHA:225154
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Abnormal cerebral white matter morphology, Megalencephaly, Ata... OMIM:249240
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal s... OMIM:617672
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Cerebe... ORPHA:497764
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal periventricular white matter morphology, Abnormal motor nerve conduction veloc... OMIM:618404
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Hypoplasia of the corpus callosum, Gait disturbance, Axonal loss, Cerebral atro... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Difficulty walking, Steppage gait, Frequent falls, Onion bulb formation OMIM:618279
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction, Cognitive impairment, Mental deterior... ORPHA:306617
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Frequent falls, Decreased motor nerve conduction velocity, Falls, Distal sensory impairment OMIM:614228
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Difficulty walkin... OMIM:302800
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... ORPHA:99953
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination, Onion bulb formation, Distal sensory impairment, Axonal degen... OMIM:606483
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... ORPHA:352675
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Autosomal Recessive Spastic Paraplegia Type 21
Apraxia, Abnormality of extrapyramidal motor function, Difficulty walking, Hypoplasia of the corp... ORPHA:101001
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ataxia, ... OMIM:618174
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased sensory nerve conduction vel... ORPHA:101081
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Distal sensory impairment, Onion bulb formation OMIM:616039
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Abnormal periventricular white matter morphology, Decreased nerve conduction velocit... OMIM:249900
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Hypertonia, Abnormal pyramidal sig... OMIM:600361
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Axonal regeneration, Distal sensory impairment, Onion bulb formation OMIM:615185
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Tetraparesis, Upper mo... ORPHA:206448
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Limb tremor, Spastic gait, Lower limb spasticity... ORPHA:401820
Ataxia-Pancytopenia Syndrome
Abnormal cerebral white matter morphology, Ataxia, Ankle clonus, Cerebellar atrophy, Unsteady gai... OMIM:159550
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... OMIM:610100
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypoplasia of the corpus callosum, Hypertonia, Slurred speech, Toe walking, Tetrapare... ORPHA:2386
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, E... ORPHA:100070
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, Impaired vib... ORPHA:3115
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Clonus, Difficulty walking, Hypoplasia of the corpus callosum, Onion bulb for... OMIM:615035
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101078
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Intention tremor, Babinski sign, Decreased nerve conduction velo... ORPHA:98890
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Impaired pain sensation, Paresthesia, Impaired tactile sensation, Difficulty walking, Gait distur... ORPHA:435387
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Impa... OMIM:618912
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Spastic gait, ... OMIM:613162
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of t... ORPHA:139578
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Abnormal pyr... ORPHA:204
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Demyelinating sensory neuropathy, Gait disturbance, Abnormal motor evoked pote... ORPHA:99939
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101075
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, ... ORPHA:101111
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Abnormal myelination, Babinski sign, Abnormality of periph... ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral my... OMIM:604484
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Abnormal myelination, Lower limb spasticity, Spastic gait, Bab... ORPHA:401840
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... OMIM:270550
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Tremor, Spastic paraparesis, Diffic... ORPHA:101077
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment, Peripheral demy... ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:607677
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased number of peripheral myelina... OMIM:145900
Neuronopathy, Distal Hereditary Motor, Type Vc
Chaddock reflex, Difficulty walking, Decreased compound muscle action potential amplitude, Babins... OMIM:619112
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Distal sensory impairment, Decreased number of la... OMIM:608340
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Dystonia, Decreased motor nerve conduction velocity, Rigidity, Spastic paraparesi... OMIM:608804
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Axonal regeneration, Distal sensory impairment, Decreased number of peripheral mye... OMIM:607731
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Impaired tactile sensation, Abnormal peripheral myelination OMIM:147530
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetri... OMIM:618356
Spinocerebellar Ataxia 25
Abolished vibration sense, Ataxia, Decreased number of peripheral myelinated nerve fibers, Cerebe... OMIM:608703
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Impaire... OMIM:614436
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Tremor, Gait ataxia, Clumsiness, Focal T2 hyperintense basal ganglia lesion, EEG wi... ORPHA:282166
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellum, Ataxia, Decreased nerve conducti... ORPHA:1188
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Positive Romberg sign, Gait ataxia, Distal sensory impairment, Peripheral demyelination, Optic at... OMIM:258650
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencepha... OMIM:607341
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Aut... OMIM:169500
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar at... ORPHA:85292
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Impaired vibration sensation at an... ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormality of extrapyramidal motor function, Gait disturbance, EEG with continuous... ORPHA:275864
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Leukodystrophy, Decreased motor nerve conduction velocity, Cerebral white matt... OMIM:610532
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Babinski... OMIM:300660
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Distal ... OMIM:618387
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Cerebellar atrophy, Periventricular leukomalacia, Progressive ... OMIM:615889
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Abnormal periventricular wh... OMIM:604360
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Decreased nerve conduction velocity, Dis... OMIM:612674
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Abnormal cerebral white matter morphology, Ataxia, Peripheral axon... OMIM:607317
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Gait disturbance, Onion bulb formation, Distal sensory impairment, Optic atrophy, Segmental perip... OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Chronic axonal neuropathy, Distal senso... OMIM:606595
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Onion bulb formation, Distal sensory impairment, Decreased nerve conduction vel... OMIM:615284
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Mixed demyelinating and axonal polyneuropathy, Impaired vibratory sensat... ORPHA:101085
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, G... OMIM:603472
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babin... OMIM:600795
Spinocerebellar Ataxia 1
Abnormality of extrapyramidal motor function, Impaired proprioception, Spasticity, Dysdiadochokin... OMIM:164400
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Abnormal myelination, Lower limb spasticity, Cerebral cortical atrop... ORPHA:401830
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... OMIM:615376
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Diffuse cerebellar atrophy, Trunca... ORPHA:363710
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... OMIM:608673
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy OMIM:615957
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Distal ... OMIM:601455
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Paraparesis, Ataxia, Impaired pain ... ORPHA:99014
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... OMIM:607706
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... ORPHA:94122
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spinocerebellar tract degeneration, Spastic ataxia, Gait di... ORPHA:2572
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Abnormal nerve conduction velocity, Gait disturban... ORPHA:98755
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitud... ORPHA:99950
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Peripheral... DECIPHER:59
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Peripheral hypomyeli... OMIM:604168
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Paraparesis, Distal sensory impairment, Decreased nerve conduction velocity OMIM:302802
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnormal cerebel... OMIM:270500
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Unsteady gait, Cerebellar atrophy, Sp... OMIM:256600
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Spinocerebellar tract degeneration, Progressive gait ataxia, Limb... ORPHA:1175
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar atroph... OMIM:618090
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination OMIM:607736
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unstead... OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Posterior Column Ataxia With Retinitis Pigmentosa
Positive Romberg sign, Sensory ataxia, Decreased sensory nerve conduction velocity, Hyperintensit... OMIM:609033
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Unsteady gait... OMIM:616948
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Motor axonal neuropathy, Cerebral atrophy, Sensory axonal neuropathy... ORPHA:457205
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy,... OMIM:617862
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... OMIM:607791
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Metachromatic Leukodystrophy
Dystonia, Decreased nerve conduction velocity, Gait disturbance, Chorea, Abnormal cerebral white ... OMIM:250100
Combined Oxidative Phosphorylation Defect Type 39
Hypsarrhythmia, Toe walking, Deep white matter hypodensities, Corpus callosum atrophy, Hypoplasia... ORPHA:565624
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, CNS demyelination, Peripheral demyelination OMIM:250850
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity, Spastic gait, Babinski sign, Distal se... ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus... OMIM:604213
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells, Corticospinal tract pallor OMIM:600333
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Paraplegia, Myelitis, Peripheral demyelination ORPHA:71211
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Microcephaly, Optic atrophy,... OMIM:614322
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Neuron... OMIM:607596
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, CNS demyelination, Decerebrate rigidity, EEG abn... OMIM:245200
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Lissencephaly 3
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ataxia, Polymicrogyr... OMIM:611603
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Cognitive impairment, Broad... OMIM:117360
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Anxiety, Myoclonus, Upper motor neuron dysfunctio... ORPHA:401901
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Giant somatosensory evoked potentials, ... OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Decreased motor nerve conduction velocity, Limb ataxia,... ORPHA:95
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Spasti... OMIM:256840
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Galloway-Mowat Syndrome 5
Pachygyria, Ataxia, Peripheral demyelination, Microcephaly, Spasticity OMIM:617731
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Corpus callosum atrophy, Difficulty walking, Hypoplasia o... ORPHA:171629
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atrophy, Progressive i... ORPHA:521406
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Progressive Myoclonic Epilepsy Type 1
Dementia, Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal ganglia, EEG with foc... ORPHA:101029
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria OMIM:612437
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal motor evoked potentials, Spasticity, Impaired vibratory sensation, Hypoplasia of the cor... ORPHA:98
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... OMIM:618170
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Degeneration... OMIM:602433
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Abnormality of the seventh cranial nerve, Tremor, Somatic sensory dysfunction,... ORPHA:90117
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased n... ORPHA:101082
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Dystonia, Tremor, Rigidity, Ataxia, Cerebellar atrophy, Cerebral hypomyelination,... OMIM:612438
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Impaired vibratory sensation, Paresthesia, Hand tremor, Impaired temperature sen... ORPHA:99947
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy... OMIM:300983
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Spastic paraparesis, Spinoc... OMIM:312920
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Hemiparesis, Unilateral pol... OMIM:610031
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Yuan-Harel-Lupski Syndrome
Gait ataxia, Demyelinating peripheral neuropathy, Unsteady gait, Syringomyelia, Distal sensory im... OMIM:616652
Autosomal Dominant Spastic Paraplegia Type 19
Abnormal lower-limb motor evoked potentials, Degeneration of the lateral corticospinal tracts, Di... ORPHA:100999
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity OMIM:608895
Spinocerebellar Ataxia, Autosomal Recessive 25
Cognitive impairment, Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, ... OMIM:616140
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Cerebel... OMIM:614860
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Gliosis, Ataxia, Peripheral demyelination, CNS demyelination OMIM:220111
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ataxia, Ankle clonus, Cerebellar atrophy, Spastic gait, Peripheral axonal neu... OMIM:610357
Neuroectodermal Melanolysosomal Disease
Tremor, Cerebral cortical hemiatrophy, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cer... ORPHA:33445
Leukodystrophy, Hypomyelinating, 16
Leukodystrophy, Dystonia, Gait ataxia, Hypoplasia of the corpus callosum, Hypertonia, Abnormal py... OMIM:617964
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Aggressive behavior, Paresthesia, Chorea, Paroxysmal dyskinesia, Atax... ORPHA:98811
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Limb ataxia, Oculomotor apraxia, ... OMIM:208920
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Sensory axonal neuropathy, Cerebellar atrophy, D... OMIM:617770
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Slowed slurred speech, Ataxia OMIM:172500
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Decreased number of peripheral myelinated nerve fibe... OMIM:256850
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Polymyoclonus, Infantile
Irritability, Myoclonus, Ataxia OMIM:263550
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, O... OMIM:218000
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Abnormal corpus striatum morphology, Lower limb hypertonia, Abnormal corpus ... ORPHA:319514
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cer... ORPHA:98763
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Agyria, Agenesis of corpus callosum, Lissencephaly, Spasticity OMIM:300067
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Cerebral atrophy, Progressive ... ORPHA:352641
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Leukodystrophy, Hypoplasia of the corpus callosum, Ataxia, Abnormal up... OMIM:607694
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic paraparesis, Peripheral demyelination, Peripheral hypomyelination, Long-segment aganglion... OMIM:609136
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Impaired vibratory sensation, Spastic paraparesis, Poor coordination, Abnormal pyramida... OMIM:238970
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Abnormal cerebral white matter morphology, Waddling gait, Axonal degeneration, Decreased nerve co... OMIM:618138
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Dystonia, Tremor, Loss of ability to walk, Cerebral calcification, Microcephaly, ... OMIM:615010
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Dysmetria, Myoclonus, Mental deterioration, Attention defici... OMIM:619191
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Clu... ORPHA:228360
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesi... ORPHA:35069
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:118300
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Limb dysmetria, Difficulty walking, Limb ataxia... ORPHA:100989
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Gait ataxia, Decreased motor nerve conduction velocity, Tremor, Progressive gait ataxia... OMIM:606002
Lissencephaly 4
Hypertonia, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus cal... OMIM:614019
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria, Memory ... OMIM:618317
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Cednik Syndrome
Pachygyria, Ataxia, Abnormal corpus callosum morphology, Polymicrogyria, Abnormality of periphera... ORPHA:66631
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, EEG a... OMIM:617810
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Hypoplasia of the corpus callosum, Tremor, Peripheral axonal neuropathy, Distal sensory impairment OMIM:616668
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of vincristine, Degeneratio... OMIM:118301
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Cerebellar atrophy, Torticollis, Frequent falls, Spasticity OMIM:618369
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Giant somatosensory evoked potenti... OMIM:613608
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Paresthesia, Dysesthesia, Axonal loss, Tetrapar... ORPHA:85446
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Hypertonia, Toe walking, Upper motor neuron dysfunction, Mixed demyelina... ORPHA:466768
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Masa Syndrome
Spastic paraplegia, Gait disturbance, Hemiplegia/hemiparesis, Agenesis of corpus callosum ORPHA:2466
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Dystonia, Gait ataxia, Clumsiness, Punctate periventricular T2 hyperintense foci,... ORPHA:309256
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Intention tremor, Abnormal pyramidal sign, Ataxia, Cerebral cortical atrophy, Dysmet... ORPHA:48431
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Mucolipidosis Iv
Dystonia, Cerebral dysmyelination, Dysplastic corpus callosum, Cerebellar atrophy, Spastic tetrap... OMIM:252650
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Difficulty walking, Spinal cord lesion, Lower l... ORPHA:171612
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Impaired distal tactile sensation, Peripheral axonal neuropathy, Decreased dist... OMIM:618400
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Gliosis, Limb ataxia, Chorea, Ataxia, Brad... OMIM:607136
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, C... ORPHA:79263
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Astrocytosis, Dystonia, Truncal ataxia, Spastic paraparesis, Difficulty walki... ORPHA:309854
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypsarrhythmia, Spasticity, Cerebral cortical atrophy, Myoclonus, Microcephaly, Optic a... OMIM:617669
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Optic atrophy, Spastic tetraplegia, Peripheral demyelination OMIM:618237
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment OMIM:607684
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Gait disturbance, Ataxia, Abnormal sensory nerve conduction v... ORPHA:88628
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Cortical dysplas... OMIM:608716
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Abnormal moto... ORPHA:909
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Lower limb hypertonia, Spinal cord lesion, Lowe... ORPHA:171863
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Metachromatic Leukodystrophy, Juvenile Form
Leukodystrophy, Dystonia, Clumsiness, Punctate periventricular T2 hyperintense foci, Progressive ... ORPHA:309263
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:618492
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Microcephaly, Agenesis of ... OMIM:614039
Autosomal Recessive Spastic Paraplegia Type 46
Truncal ataxia, Corpus callosum atrophy, Difficulty walking, Impaired vibration sensation at ankl... ORPHA:320391
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Spastic paraparesis, Gait disturbance, Optic neuropath... ORPHA:101076
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Lower limb spastici... OMIM:600363
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Cerebellar atrophy, Impaired tandem gait, Lower limb spasticity, Myoclonus, Dysme... OMIM:619028
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... OMIM:213600
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, C... ORPHA:464282
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, Spastic diplegia, Ataxia, Lower limb spasticity, Babinski sign... OMIM:615281
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, N... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, EEG with spike-wave complexes, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral whi... OMIM:618587
Childhood-Onset Spasticity With Hyperglycinemia
Leukodystrophy, Hypertonia, Spastic diplegia, Spinal cord lesion, Ataxia, Unsteady gait, Myoclonu... ORPHA:401866
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Abnormal cerebral white matter morphology, Bradykinesia, Leukoencephalopathy, C... OMIM:221820
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Cerebral atrophy, Cerebellar atrophy, Facial palsy, Ce... OMIM:601170
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Decreased nerve conduction velocity ORPHA:2928
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Paresthesia, Orthostatic hypotension, Gait disturbance, Abnormal cerebral whi... OMIM:263570
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Distal sensory impair... OMIM:607250
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Cerebral atrophy, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Metachromatic Leukodystrophy, Adult Form
Leukodystrophy, Dystonia, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Punct... ORPHA:309271
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremor, Abnormal... ORPHA:280219
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Microcephaly, Cerebral calcification, Ataxia, Decreased nerve conduction velocity ORPHA:1933
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Axonal loss, Distal sensory impairment, Onion bulb formation OMIM:614455
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... ORPHA:391417
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Distal sensory impairment... OMIM:162400
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, EEG abnormality, Rigidity OMIM:617836
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Spastic paraplegia, Impaired vibratory sensation, Abnormality of extrapyr... ORPHA:100996
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypop... ORPHA:300573
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Hyperactivity, Tetraplegia, Microcephaly, Optic atrophy, ... OMIM:274270
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Basal ganglia calc... OMIM:616505
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Megalencephaly, Difficulty walking, Astrocytosis OMIM:611087
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Rigidity, Tremor, Delayed CNS myelinati... OMIM:618877
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Difficulty walking, Amyotrophic lateral sclerosis, Unsteady gait, Distal sens... ORPHA:600
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Gabriele-De Vries Syndrome
Dystonia, Tremor, Delayed myelination, Abnormal cerebral white matter morphology, Waddling gait OMIM:617557
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Clumsiness, Cerebral cortical atrophy, Upper motor neuron dysfunction, Spasticity, Post... ORPHA:447896
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Cerebral atrophy, Ataxia, Cerebellar atrophy, P... OMIM:272200
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Sialidosis Type 1
Tremor, Slurred speech, Gait disturbance, Ataxia, EEG abnormality, Myoclonus, Decreased nerve con... ORPHA:812
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, EEG with burst suppression, Cerebellar hypoplasia, Neuronal loss in the cere... ORPHA:168486
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign OMIM:605726
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... OMIM:312080
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Myoclonus, Cerebral calcification, Microcephaly, Choreoathetosis OMIM:261630
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Abnormal cerebral white matter morphology OMIM:618951
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Abnormal pyramid... ORPHA:527497
Glutathionuria
Tremor OMIM:231950
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... ORPHA:2590
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations, Facial pa... OMIM:159950
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Abnormal pyramidal sign, Dysplastic corpus callosum, Cerebellar atrophy, Polymicrogyria, Optic ne... OMIM:614833
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Spastic paraparesis, Hypoplasia of the corpus callos... ORPHA:320375
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Bradykinesia, Ankle clon... OMIM:617435
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Cerebellar atrophy, Basal ganglia calcification, Decreased nerve conduction velocity, Mic... OMIM:610651
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Difficulty walking, Decreased number of peripheral ... ORPHA:320406
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Hypoplasia of the corpus ... OMIM:614409
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Enhancement of the C-reflex, Jerk-locked premyoclonus spikes OMIM:615127
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Dysmetria, Babin... OMIM:618093
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia, Cognitive impairment OMIM:616267
Spinocerebellar Ataxia, X-Linked 4
Morphological abnormality of the pyramidal tract, Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Dystonia, Poor fine motor coordination, Ataxia, Unsteady gait, Spastic tetrap... OMIM:245349
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity OMIM:143100
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Parkinsonism, Decreased nerve conduction velocity, Fasciculations, Fr... ORPHA:329478
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Friedreich Ataxia
Gait ataxia, Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction... OMIM:229300
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Cerebellar atrophy, Dysmetria, Microcephaly, Op... OMIM:617988
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Tetraparesis, Head titubation, Spastic gait, Ab... ORPHA:99027
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Abnormality of extrapyramidal... ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebellar at... OMIM:617633
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypopl... ORPHA:2524
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Involuntary movements, Limb ata... ORPHA:101
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Hypoplasia of the corpus callosum, Babinski sign,... ORPHA:477673
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Positive Romberg sign, Decreased motor nerve conduction velocity, Vocal cord paresis, Distal sens... OMIM:601152
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Facial diplegia, Spastic paraparesis, Difficulty walking, Hypoplasia of the co... ORPHA:254930
Pontocerebellar Hypoplasia, Type 14
Dystonia, Delayed CNS myelination, Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Simpli... OMIM:619301
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Tremor, Ataxia, Spasticity OMIM:278780
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Spinal cord po... ORPHA:1187
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Axonal loss, Paralysis, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Gaba-Transaminase Deficiency
Leukodystrophy, Lethargy, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia gliosis, Gliosis, Hypsarrhythmia, EEG with focal spikes, Cerebellar cyst,... ORPHA:79243
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensi... ORPHA:485421
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Spinocerebellar tract degenera... OMIM:183090
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Impaired tactile sensation, Difficulty walking, Gait disturbance, Impaired tem... ORPHA:90658
Foxg1 Syndrome
Inability to walk, Dystonia, Delayed myelination, Pachygyria, Difficulty walking, Hypoplasia of t... ORPHA:561854
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased motor nerve conduction velocity, Axial dystonia, Decreased sensory ... OMIM:619026
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, EEG with multifocal slow activity, Hypsarrhythmia, Difficulty walking, Abnormality of coo... ORPHA:442835
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neur... OMIM:615490
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Hypoplasia of the corpus callosum, Axonal loss, Hypertonia, Cerebral atrophy, Opisthoton... OMIM:252160
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Abnormal periventricular white matter morphology, Diff... ORPHA:139396
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Hypertonia, Paralysis, Ataxia, Cerebellar atrophy, Myoclonus, Cerebral cor... OMIM:203700
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Hypoplasia of the corpus callosum, Periventricular cysts, Cerebral atrophy, Tetraparesis, Spastic... ORPHA:255182
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Cerebellar hypoplasia, Oculomotor apraxia, Cerebellar at... ORPHA:529665
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormality of extrapyramidal... ORPHA:79139
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Caudate atrophy, Spastic tetraplegia, Optic atrophy, Choreoathetosis, Agenesis of corpu... OMIM:618238
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Gliosis, Chorea, Gait disturbance, Poor fine motor coord... ORPHA:157941
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, EEG abnormality, Parkinsonism, Babinski sign, Microcephaly, Choreoa... OMIM:300055
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... ORPHA:313772
Pontocerebellar Hypoplasia, Type 15
Dystonia, Delayed CNS myelination, Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Simpli... OMIM:619302
Glutaric Acidemia I
Dystonia, Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, Spasti... OMIM:231670
Metachromatic Leukodystrophy
Dystonia, Tremor, Incoordination, Gait disturbance, Toe walking, Ataxia, Decerebrate rigidity, Hy... ORPHA:512
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Cerebellar atrophy, Oculogyric crisis, D... ORPHA:330050
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Gait ataxia, Atrophy of the spinal cord, Lower limb spasticity, Cerebellar at... ORPHA:139480
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Cerebellar atrophy, Torticollis... ORPHA:71517
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus OMIM:608105
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Difficulty walking, Limb ataxia, Spinal cord le... ORPHA:100993
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Cerebellar hypoplasia, Ataxia, Abnormal myelinati... ORPHA:280210
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Masa Syndrome
Spastic paraplegia, Lower limb spasticity, Microcephaly, Paraplegia, Agenesis of corpus callosum,... OMIM:303350
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Spinocerebellar tract degeneration, Abnor... OMIM:109150
Polymicrogyria With Optic Nerve Hypoplasia
Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, ... ORPHA:250972
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Sensory axonal neur... OMIM:618733
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Abnormal myelination, Agenesis of corpus callosum, Par... ORPHA:85179
Tangier Disease
Peripheral demyelination, Impaired temperature sensation, Peripheral axonal neuropathy, Impaired ... OMIM:205400
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atroph... OMIM:608768
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Peripheral axonal neur... ORPHA:98771
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Neuroferritinopathy
Dystonia, T2 hypointense thalamus, Palatal myoclonus, Abnormal dentate nucleus morphology, Chorea... ORPHA:157846
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal lower ... OMIM:614298
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy... ORPHA:83629
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276244
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Frontotemporal cerebral atr... ORPHA:171617
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Myoclonus, Dysmetria, Agenesis of corpus callosum OMIM:250620
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Degeneration of anterior horn cells, Peripheral axonal degeneration, Dec... OMIM:604320
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Bradykinesia, Dysplastic corpu... OMIM:614924
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Microcephaly, Choreoa... OMIM:261640
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Delayed CNS myelination, Head titubation, Ataxia, Dysmetria, Intention tremor, Ba... OMIM:618688
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
Warburg Micro Syndrome 4
Inability to walk, Decreased motor nerve conduction velocity, Perisylvian polymicrogyria, Hypopla... OMIM:615663
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, Choreoathetosis, Spast... OMIM:612716
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive gait ataxia, Atrophy of the spinal cord, Spastic gait, Progressive i... ORPHA:447757
Trigeminal Neuralgia
Paresthesia, Cranial nerve compression, Somatic sensory dysfunction, Peripheral demyelination, CN... ORPHA:221091
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonis... OMIM:612953
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Episodic ataxia, Lethargy, Basal ganglia cysts, Cerebral atrophy, Microcephaly, Choreoa... OMIM:312170
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Demyelinating peripheral neuropathy, Progr... ORPHA:504476
Multifocal Motor Neuropathy
Motor conduction block, Fasciculations ORPHA:641
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Paraparesis, Spastic paraplegia ORPHA:101005
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Ataxia OMIM:618637
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Br