Gene Summary

Name:
contactin associated protein-like 1
Synonyms:
p190,  Caspr,  Nrxn4,  NCP1,  paranodin,  shm

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes

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 Cntnap1 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 Cntnap1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Facial diplegia, Paralysis, Cerebral atrophy OMIM:616286
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cerebellar atrophy, Cachexia, Babinski sign, CNS hypomyelination, Facial diplegia, Spas... OMIM:618186
Hypomyelination Neuropathy-Arthrogryposis Syndrome
ORPHA:2680

The table below shows human diseases predicted to be associated to Cntnap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ataxia, Sensory, 1, Autosomal Dominant
Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark, Babinski sign OMIM:608984
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
X-Linked Spastic Paraplegia Type 34
Ankle clonus, Lower limb spasticity, Impaired vibration sensation in the lower limbs, Babinski si... ORPHA:171607
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation OMIM:212890
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spastic Paraplegia 34, X-Linked
Spastic paraplegia, Impaired vibratory sensation, Spastic gait, Babinski sign, Clonus, Paraplegia OMIM:300750
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Frequent falls, Falls, Distal sensory impairment OMIM:614228
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Peripheral hypomyelinat... OMIM:611228
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Peripheral demyelination, Difficulty walking, Motor conduction block... ORPHA:2932
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Inability to walk, Difficulty walking, Scissor gait, Spasticity OMIM:615685
Autosomal Recessive Spastic Paraplegia Type 28
Impaired tactile sensation, Pain insensitivity, Abolished vibration sense, Lower limb spasticity,... ORPHA:101008
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... DECIPHER:29
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Neuronopathy, Distal Hereditary Motor, Type Vc
Chaddock reflex, Difficulty walking, Decreased compound muscle action potential amplitude, Babins... OMIM:619112
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Angelman syndrome (Type 2)
Truncal ataxia, EEG abnormality DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, EEG abnormality DECIPHER:4
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Leukodystrophy, Hypomyelinating, 18
Scoliosis, Dystonia, Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropath... OMIM:618404
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Ataxia OMIM:618384
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Babinski sign, Intention tr... ORPHA:98890
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... ORPHA:352675
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Null Syndrome
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Progressive spastic q... ORPHA:280234
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Impaired pain sensation, Gait disturbance, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Hypertonia, Abnormal pyramidal sig... OMIM:600361
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Inability to walk, Babinski sign, Abnormality of peripheral nerve conduction,... ORPHA:431329
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101075
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria OMIM:612437
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Babinski sign, Ab... ORPHA:101007
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Impa... OMIM:618912
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Spast... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Scoliosis, Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction ... OMIM:609260
Roussy-Lévy Syndrome
Scoliosis, Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, I... ORPHA:3115
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Gait disturbance, Abnormal pyramidal sign, Somatic sensory dysfunction, Babin... ORPHA:357043
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus, Jerk-locked premyoclonus spikes OMIM:615127
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Ataxia, Spasticity OMIM:249240
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Tremor, Spastic parapare... ORPHA:101077
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, EEG... OMIM:600143
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity OMIM:611105
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... ORPHA:171622
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... OMIM:610100
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, ... OMIM:618876
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased sensory nerve conduction vel... ORPHA:101081
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Sensory ataxia, Vocal cord paresis, Basal lamina onion... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Gait disturbance, Onion bulb formation, Abnormal auditory evoked potentials, Abnorma... OMIM:601455
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Giant somatosensory evoked potenti... OMIM:613608
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy OMIM:615957
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Clu... ORPHA:228360
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Periph... ORPHA:497764
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia ORPHA:1397
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Steppage gait, Toe walking, Impaired distal vibration ... OMIM:614436
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Abnormal nerve conduction velocity, Gait disturbance, Paraparesis, Kyphosis, A... ORPHA:99014
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, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Spinocerebellar Ataxia Type 25
Scoliosis, Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Decreased numb... ORPHA:101111
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy, Babinski sign OMIM:108650
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Chronic axonal neuropathy, Distal senso... OMIM:606595
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Poor coordination, Ataxia, Broad-based gait OMIM:617665
Charcot-Marie-Tooth Disease, Type 4H
Scoliosis, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased numbe... OMIM:609311
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Myoclonus, Failure ... OMIM:618356
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Developmental And Epileptic Encephalopathy 76
Inability to walk, Delayed CNS myelination, Upper limb spasticity, Cerebral atrophy, Multifocal e... OMIM:618468
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech ORPHA:98766
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonom... ORPHA:139578
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Abnormal nerve conduction velocity, Gait disturban... ORPHA:98755
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Impaired pain sensation, Paresthesia, Impaired tactile sensation, Difficulty walking, Gait distur... ORPHA:435387
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia 25
Scoliosis, Abolished vibration sense, Ataxia, Decreased number of peripheral myelinated nerve fib... OMIM:608703
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Cerebral atrophy, Ankle clonus, Lower limb spasticity, Sp... OMIM:611252
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Autosomal Dominant Spastic Paraplegia Type 31
Difficulty walking, Gait disturbance, Hypertonia, Spastic tetraparesis, Spastic gait, Distal sens... ORPHA:101011
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia ORPHA:2274
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Scoliosis, Spastic ataxia, Spastic tetraparesis, Cerebellar atrophy, Peripheral axonal neuropathy... ORPHA:496756
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Optic atrophy, EEG abnormality, Ataxia OMIM:614706
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... OMIM:615376
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Spastic Ataxia, Charlevoix-Saguenay Type
Scoliosis, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Decreased senso... OMIM:270550
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Ataxia-Deafness-Intellectual Disability Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Ataxia, Cerebral cortical atrophy, Decreased ner... ORPHA:1188
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... OMIM:608673
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality, Ataxia, Spasticity OMIM:619228
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Scoliosis, Paraparesis, Distal sensory impairment, Decreased nerve conduction velocity, Steppage ... OMIM:302802
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Babinski sign, Ataxia OMIM:618418
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Babinski sign, Dy... OMIM:607458
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Ankle clonus, Ataxia, Unsteady gait, Impaired vibration sens... OMIM:159550
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebral atrophy, Cerebellar atrophy, Myoclon... OMIM:616981
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Ataxia, Dysmetria, Intention tremor, Distal sensory impairme... OMIM:612674
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Peripheral axonal neur... OMIM:610743
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... ORPHA:276435
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Cerebellar atrophy, Failure to thrive, Tongue ... OMIM:618276
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Optic atrophy, Spasticity OMIM:614322
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Autosomal Recessive Spastic Paraplegia Type 21
Apraxia, Abnormality of extrapyramidal motor function, Difficulty walking, Gait disturbance, Abno... ORPHA:101001
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Dystonia, Choreoathetosis, Spastic par... OMIM:608804
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Abnormal ... ORPHA:52368
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
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Chronic axonal neuropathy, Ataxia OMIM:260970
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal motor evoked potentials, Spasticity, Impaired vibratory sensation, Abnormal pyramidal si... ORPHA:98
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Demyelinating sensory neuropathy, Gait disturbance, Abnormal motor evoked pote... ORPHA:99939
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Impaired vibration sensation at an... ORPHA:90103
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Spastic paraparesis, Babinski sign OMIM:613672
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degeneration affecting ... OMIM:616192
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Ataxia OMIM:616330
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal s... OMIM:617672
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment, Peripheral demy... ORPHA:99944
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent li... OMIM:256731
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Slurred speech, Cerebellar atrophy, EEG with occipital epileptiform discharges, Opti... OMIM:619323
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitud... ORPHA:99950
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Scoliosis, Delayed CNS myelination, Cerebral atrophy, Cerebellar atrophy, Waddling gait, Peripher... OMIM:619090
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Spastic Ataxia 9, Autosomal Recessive
Abnormal pyramidal sign, Ataxia, Cerebellar vermis atrophy, Babinski sign, Frequent falls, Spasti... OMIM:618438
Autosomal Recessive Spastic Paraplegia Type 76
Gait ataxia, Limb ataxia, Ataxia, Ankle clonus, Lower limb spasticity, Babinski sign ORPHA:488594
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Scoliosis, Clumsiness, Progressive gait ataxia, Limb ataxia, Axonal loss, Pro... ORPHA:1175
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Charcot-Marie-Tooth Disease Type 4G
Scoliosis, Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory... ORPHA:99953
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Charcot-Marie-Tooth Disease, Type 4B3
Scoliosis, Gait disturbance, Brain atrophy, Onion bulb formation, Distal sensory impairment, Decr... OMIM:615284
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Distal ... OMIM:618387
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, C... ORPHA:79263
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Neuronal Intranuclear Inclusion Disease
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, G... OMIM:603472
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Spasticity OMIM:613925
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fa... OMIM:607317
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Peripheral demyelination, Spastic tetraparesis, Babinski sign, Decreased nerve condu... OMIM:249900
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Sensory axonal neuropathy, Cerebellar atrophy, D... OMIM:617770
Hypermanganesemia With Dystonia 2
Scoliosis, Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Cere... OMIM:617013
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation, H... ORPHA:2815
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Peripheral axonal ... OMIM:610357
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity OMIM:614307
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity, Spastic gait, Babinski sign, Distal se... ORPHA:100998
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Optic atrophy, Truncal ataxia, Cerebral atrophy OMIM:611726
Charcot-Marie-Tooth Disease Type 1F
Scoliosis, Impaired proprioception, Mixed demyelinating and axonal polyneuropathy, Impaired vibra... ORPHA:101085
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potenti... OMIM:601596
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Optic atrophy... ORPHA:385
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Scoliosis, Dystonia, Chorea, Hyperkinetic movements, Cerebral atrophy, Oculogy... OMIM:614254
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
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesi... ORPHA:35069
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Scoliosis, Ataxia, Cerebellar atrophy, Spastic tetraplegia, Peripheral axonal neuropathy, Optic a... OMIM:617207
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Nescav Syndrome
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar... OMIM:614255
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebral atrophy, Ataxia, Cerebellar atrophy, EEG abnormality, Optic atrophy OMIM:610951
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Ga... OMIM:229300
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormal electroretinogram, Abnormality of visual evoked potentials, Ataxia, Decreased nerve cond... ORPHA:1933
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Scoliosis, Dystonia, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Progressive inability ... ORPHA:521406
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Delayed CNS myelination, Abnormality of extrapy... ORPHA:352596
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Oculomotor apraxia, Cerebellar hypoplasia, Ata... ORPHA:313772
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic tetraplegia, Decreased nerve conduction v... OMIM:256600
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Neur... OMIM:612319
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Scoliosis, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb spas... OMIM:611225
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Peripheral axonal neuropathy, Distal sensory impairment,... OMIM:617087
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Scoliosis, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... OMIM:614409
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Cortical myoclonus, EEG with spike-wave complexes, EEG with series of focal sp... ORPHA:168491
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased number of peripheral myelina... OMIM:145900
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Corpus callosum atrophy, Hypsarrhythmia, Hyperkinetic movements, Cer... OMIM:618285
Spastic Ataxia 3, Autosomal Recessive
Scoliosis, Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, ... OMIM:611390
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Moto... ORPHA:1215
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Dystonia, Gait ataxia, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Cerebellar atrophy, EEG a... OMIM:617810
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Ataxia OMIM:617020
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Leukodystrophy, Loss of ... OMIM:610532
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Hyperactivity OMIM:613402
Baker-Gordon Syndrome
Inability to walk, Scoliosis, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereoty... OMIM:618218
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Lower limb spasticity, Spastic g... OMIM:607565
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus OMIM:608105
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Cerebral hypomyeli... OMIM:612438
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia OMIM:615705
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Increased n... OMIM:162350
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Kyphosis, Ank... OMIM:617435
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Decreased nerve conduction velocity, Sensory axonal neuropathy, EEG ... ORPHA:457205
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia,... ORPHA:100984
Autosomal Recessive Spastic Paraplegia Type 46
Scoliosis, Truncal ataxia, Corpus callosum atrophy, Head tremor, Upper limb spasticity, Difficult... ORPHA:320391
Peroxisomal Acyl-Coa Oxidase Deficiency
Gait disturbance, Hypertonia, Abnormal electroretinogram, EEG abnormality, Optic atrophy, Abnorma... ORPHA:2971
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Difficulty walking, Knee clonus, ... OMIM:275900
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Clumsiness, Progressive gait ataxia, Toe walking, Decerebrate rigidity, Ba... ORPHA:309256
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia 1
Abnormality of extrapyramidal motor function, Impaired proprioception, Spasticity, Dysdiadochokin... OMIM:164400
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... ORPHA:397946
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Delayed myelination, Chorea, Cerebral atrophy, Ataxia, Cerebellar at... OMIM:617804
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign OMIM:605726
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Knee clonus, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Parki... OMIM:604187
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Neurodegeneration With Brain Iron Accumulation 7
Loss of ability to walk, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Leukodystrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebr... OMIM:607694
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention tremor, Broad-ba... OMIM:617964
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atroph... ORPHA:468661
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... OMIM:617829
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Cerebellar atrophy, Myoclonus, Dysme... OMIM:619028
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Delayed myelination, Kyphosis, Cerebral atrophy, Ataxia, ... OMIM:616756
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity OMIM:608895
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis OMIM:614820
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Chorea, Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Clonus OMIM:613811
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
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
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Scoliosis, Apraxia, Extrapyramidal muscular rigidity, Slurred speech, Gait dis... ORPHA:93952
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Scoliosis, Leukodystrophy, Dystonia, Difficulty walking, Abnormal pyramidal sign, Cerebral atroph... ORPHA:527497
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Increased neuronal... OMIM:204500
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Clumsiness, Progressive gait ataxia, Intention tremor, Decerebrate rigidity, Babinski s... ORPHA:309263
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Inability to walk, Tremor, Somatic sensory dysfunction,... ORPHA:90117
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia OMIM:609161
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Cerebral atrophy, Torticollis, Cerebellar atrophy, Frequent falls, Spasticity OMIM:618369
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Ataxia, Sensory axonal neuropathy, Cerebellar atrophy, Increased neuronal autof... OMIM:610127
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:224050
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Scoliosis, Cerebellar atrophy, Spastic tetraparesis, Brain atrophy OMIM:618741
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Ataxia, Upper motor neuron dysfunction ORPHA:3177
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Limb ataxia, Oculomoto... OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Sensory axonal neuropathy, Torticollis, Dilated fourth ventricle, Small for gestational a... OMIM:619054
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Decreased motor nerve conduction velocity, Lower limb spasticity, Spastic gai... OMIM:256840
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased n... ORPHA:101082
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebellar atrophy, Par... OMIM:300423
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, Gait ataxia, Clumsiness, Ataxia, Abnormality of pattern visual evoked potentia... ORPHA:1947
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Hemiplegia/hemiparesis, Ataxia ORPHA:2572
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... ORPHA:100988
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, EEG abnormality, Myoclonus, Babins... OMIM:606777
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Cerebellar atrophy, Failure to thrive, Dysmetria, Optic disc pallor, Spasticity OMIM:617954
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Ataxia OMIM:165500
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Cerebral atrophy, Myoclonus, Choreoathetosis OMIM:618497
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reve... OMIM:125250
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, Dystonia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Head titubation, ... OMIM:617560
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Paresthesia, Intention tremor, Abnormal pyramidal sign, Kyphosis, Ataxia, Cerebral cor... ORPHA:48431
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, Neurodegeneration, CNS demyelination, Decerebrat... OMIM:245200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Distal sensory impair... OMIM:607250
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Cerebellar hypoplasia, Cerebellar atrophy, Myoclonus, Optic atrophy, ... OMIM:619303
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia ORPHA:404493
Progressive Myoclonic Epilepsy Type 3
EEG with focal epileptiform discharges, Cerebral atrophy, Chin myoclonus, Progressive cerebellar ... ORPHA:263516
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia OMIM:212835
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Optic atrophy, Choreoathetosis, Abnormality of visual evoked ... ORPHA:702
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Gait at... OMIM:607259
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Limb ataxia, Gait ataxia ORPHA:404499
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Impaired vibratory sensation, Spastic paraparesis, Poor coordination, Abnormal pyramida... OMIM:238970
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Progressive gait atax... ORPHA:309271
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Pseudobulbar paralysis, Gait disturbance, Nonarteritic anterior ischemic optic neuropathy, Abnorm... OMIM:125310
Peroxisome Biogenesis Disorder 8B
Leukodystrophy, Spastic paraparesis, Corpus callosum atrophy, Ataxia, Cerebellar vermis atrophy, ... OMIM:614877
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Clumsiness, Impaired vibratory sensation, Gait disturbance, Chronic axonal neuropathy,... ORPHA:88644
Spinocerebellar Ataxia Type 11
Dystonia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance ORPHA:98767
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Cerebellar atrophy... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Cerebral atrophy, Atrophy of the spinal cord, Demyelinating peripher... ORPHA:445062
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Leukodystrophy, Hypsarrhythmia, Cerebral atrophy, Cerebellar atrophy, Kyphosco... OMIM:618006
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment,... OMIM:610003
Pontocerebellar Hypoplasia, Type 1A
Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Fasciculations, Hypoplasia of... OMIM:607596
Jaberi-Elahi Syndrome
Inability to walk, Scoliosis, Dystonia, Tremor, Gait ataxia, Kyphosis, Cerebellar atrophy, Failur... OMIM:617988
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis, Herniation of intervertebral nuclei, Abnormal lumbar spine morph... ORPHA:101005
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Scoliosis, Decreased motor nerve conduction velocity, Dystonia, Tremor, Gait ataxia, Head tremor,... OMIM:606002
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Hemiparesis, Ataxia, Peripheral demyelination OMIM:165200
Huntington Disease
Gait ataxia, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in central nervous... OMIM:143100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Mitochondrial Complex I Deficiency, Nuclear Type 5
Leukodystrophy, Dystonia, Lethargy, Ataxia, Brain atrophy, Cerebellar atrophy, Failure to thrive,... OMIM:618226
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Hypsarrhythmia, Cerebellar atrophy, Optic atrophy, Spasticity OMIM:617086
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... OMIM:615491
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis, EEG abnormality OMIM:300518
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Scoliosis, Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations... OMIM:159950
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Hyperactivity OMIM:609924
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Dysmetria, Broad-b... OMIM:613647
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Gait disturbance, Ataxia, Waddling gait, Distal sensory impairment, Babinski sign, Steppage gait,... OMIM:617882
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Multifocal Motor Neuropathy
Motor conduction block, Fasciculations ORPHA:641
Sialidosis Type 1
Scoliosis, Tremor, Abnormal form of the vertebral bodies, Slurred speech, Gait disturbance, Kypho... ORPHA:812
Friedreich Ataxia
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Dystonia, Gait ataxia, C... ORPHA:95
Spastic Paraplegia Type 7
Scoliosis, Abnormal pyramidal sign, Lower limb hypertonia, Somatic sensory dysfunction, Spastic g... ORPHA:99013
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Choreoathetosis, Abnormality of extrapyramidal motor function OMIM:301020
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Cerebral atrophy, ... OMIM:604168
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... OMIM:618088
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee