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Gene: Cntnap1 MGI:1858201

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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
Facial diplegia, Cerebral atrophy, Paralysis, Cerebellar atrophy OMIM:616286
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Cachexia, Babinski sign, Spasticity, Cerebellar atrophy, CNS hypomyelination, Dy... 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
Gait instability, worse in the dark, Positive Romberg sign, Babinski sign, Sensory ataxia OMIM:608984
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
X-Linked Spastic Paraplegia Type 34
Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Shuffling gait, Low... ORPHA:171607
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia, Axonal loss OMIM:212890
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Paraplegia, Clonus, Spastic gait OMIM:300750
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Hypoesthesia, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... OMIM:601098
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia OMIM:168885
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations 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
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Decreased nerve conduction velocity, Onion bulb formation, Decreased ... OMIM:611228
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... ORPHA:2932
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia ORPHA:1182
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hypertrophic nerve chang... DECIPHER:29
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia ORPHA:94122
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Neuronopathy, Distal Hereditary Motor, Type Vc
Babinski sign, Frequent falls, Difficulty walking, Chaddock reflex, Decreased compound muscle act... OMIM:619112
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Angelman syndrome (Type 2)
EEG abnormality, Truncal ataxia DECIPHER:54
Angelman syndrome (Type 1)
EEG abnormality, Truncal ataxia DECIPHER:4
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Leukodystrophy, Hypomyelinating, 18
Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysm... OMIM:618404
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... OMIM:162500
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... ORPHA:98890
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... OMIM:601068
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Impaired distal vibra... OMIM:619742
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Null Syndrome
Ataxia, Inability to walk, Decreased nerve conduction velocity, Progressive spastic quadriplegia,... ORPHA:280234
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Upper motor neuron dysfunction, Decreased nerve conduction velocity OMIM:612577
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Hand tremor, Impaired vibration sensation in the lower limbs... ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation ORPHA:101078
Subacute Inflammatory Demyelinating Polyneuropathy
Tremor, Difficulty walking, Abnormality of somatosensory evoked potentials, Peripheral demyelinat... ORPHA:206594
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve cond... ORPHA:65684
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Hereditary Motor And Sensory Neuropathy V
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... OMIM:600361
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Distal se... OMIM:608323
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria OMIM:612437
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:101075
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Gait ataxia OMIM:601238
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity, Abnormality of p... ORPHA:431329
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia ORPHA:211017
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... OMIM:607706
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased amplitude of s... OMIM:618912
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign, Spastic paraplegia, Ab... ORPHA:101007
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Roussy-Lévy Syndrome
Kyphoscoliosis, Clumsiness, Limb ataxia, Impaired vibratory sensation, Decreased motor nerve cond... ORPHA:3115
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb fo... OMIM:609260
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia ORPHA:284282
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Autosomal Recessive Spastic Paraplegia Type 24
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... ORPHA:308
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerv... ORPHA:101077
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, EEG abnormality, Cerebral atrophy, Myoclonus, Cerebellar atrophy, Increased neuronal auto... OMIM:600143
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity OMIM:611105
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Kyphoscoliosis, Demyelinating peripheral neuropathy, ... ORPHA:101081
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal motor evoked potentials, Abnormality of visual evoked potentials, Lower limb spa... ORPHA:320401
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Poor gross motor coordination, Motor conduction block, Inability to wa... ORPHA:99948
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... OMIM:615686
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Peripheral axonal neuropathy, Gait ataxia, Cerebellar atrophy OMIM:615957
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... OMIM:614895
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Loss of ambulation, Acropares... ORPHA:206443
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia ORPHA:1397
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Axonal degeneration, Decreased motor nerve con... OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Kyphosis, Ataxia, Scoliosis, Optic atrophy, Tremor, Gait disturbance, Impaired pain ... ORPHA:99014
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Dysdiadochokinesis, Babinski sign, Spastic ataxia OMIM:108650
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Distal sensory impa... OMIM:614436
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Spinocerebellar Ataxia Type 25
Abnormal cerebellar cortex morphology, Diffuse cerebellar atrophy, Decreased number of large peri... ORPHA:101111
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait OMIM:302801
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... ORPHA:497764
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity ORPHA:401849
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... OMIM:609311
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia ORPHA:2274
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Poor gross motor coordination, EEG with spike-w... ORPHA:228360
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... OMIM:619862
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Intention ... OMIM:618356
Spinocerebellar Ataxia Type 1
Gait imbalance, Abnormal flash visual evoked potentials, Progressive cerebellar ataxia, Bradykine... ORPHA:98755
Epilepsy, Progressive Myoclonic, 8
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Fall... OMIM:616230
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Distal sensory impai... OMIM:613641
Developmental And Epileptic Encephalopathy 76
Inability to walk, Upper limb spasticity, Cerebral atrophy, Cerebellar atrophy, Delayed CNS myeli... OMIM:618468
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Broad-based gait, Lumbar hyperlordosis, Poor fine motor coordination, Decreased n... ORPHA:435387
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk OMIM:619333
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar... OMIM:611252
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... ORPHA:139578
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment, ... OMIM:606595
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, EEG abnormality, Cerebellar atrophy OMIM:614706
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor OMIM:616710
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Cerebral cortical atrophy, Decreased nerve conduction velocity, Scoliosis, Aplasia/Hypopl... ORPHA:1188
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Cerebellar vermis atrophy, Decreased num... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... OMIM:601382
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Neuronopathy, Distal Hereditary Motor, Type Iid
Fasciculations, Difficulty walking, Decreased motor nerve conduction velocity OMIM:615575
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Scoliosis, Peripheral axonal neuropathy, Optic atrophy, Progressive spastic paraparesis, Cerebell... ORPHA:496756
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... OMIM:616688
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Babin... OMIM:270685
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:363432
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... OMIM:615362
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... OMIM:607458
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Scoliosis, Distal sensory impairment, Steppage ... OMIM:302802
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Dysmetria, Impaired vibration sensation in the lower... OMIM:159550
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Chorea, Benign Hereditary
Gait disturbance, Chorea OMIM:118700
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... ORPHA:98762
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Inability to walk, Hypoplasia of the pons, Tetraparesis, Global brain ... OMIM:618276
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Kyphoscoliosis, Myelin tomacula, Decreased sensory nerve conduction velocity, S... OMIM:145900
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction... OMIM:605588
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Peripheral axonal neuropathy, Gait ataxia, S... OMIM:610743
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Gait disturbance, Difficulty walking, Spasticity, Apraxia, Abnormality o... ORPHA:101001
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyeli... ORPHA:99939
Choreoathetosis, Familial Inverted
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis OMIM:118750
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Corpus callosum atrophy, Peripheral axonal ... OMIM:619389
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:614322
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Chronic axonal neuropathy, Ataxia OMIM:260970
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Progressive cerebellar ataxia, Hypermyelinated retinal nerve fibers, Babinski sign, Diffi... ORPHA:98
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, Clumsiness, Abnormality of pattern visual evoked potentials, EEG with ... ORPHA:1947
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Peripheral axonal neuropathy, Hemiparesis, Optic... OMIM:601338
Dystonia 23
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance,... OMIM:614860
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
EEG with generalized epileptiform discharges, Optic atrophy, EEG with occipital epileptiform disc... OMIM:619323
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... OMIM:612674
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Myoclonus, Dysdiadochok... OMIM:256731
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demy... ORPHA:99944
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve con... ORPHA:99950
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Hypogonadism, Impaired pai... ORPHA:2815
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Delayed CNS myelination, Babinski sign, Scoliosis, Peripheral axonal neuropathy... OMIM:619090
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Abnormality of visual evoked potentials, D... ORPHA:96
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Inability to walk, Ankle clonus, Abn... ORPHA:52368
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Autosomal Recessive Spastic Paraplegia Type 76
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Gait ataxia, Lower limb spasticity ORPHA:488594
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... ORPHA:1175
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Decreased body weight, Cerebral cortical atrophy, Cerebral atrophy, Abnormality of extrap... OMIM:617672
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... OMIM:607317
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... OMIM:618184
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Brain atrophy, Onion bulb formation, Scoliosis, Distal senso... OMIM:615284
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ab... OMIM:617225
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Inability to walk by childhood/adolescence, Decreased sensory nerve conduction ve... OMIM:214400
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Decreased nerve conduction v... OMIM:603516
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... ORPHA:99953
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Optic atrophy... OMIM:210000
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... OMIM:162400
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia OMIM:608105
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Thoracic scoliosis, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor,... OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... ORPHA:79263
Leukodystrophy, Hypomyelinating, 2
Ataxia, Cerebral atrophy, Spastic paraparesis, Demyelinating motor neuropathy, Intention tremor, ... OMIM:608804
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Cerebral atrophy, Truncal ataxia, Cerebellar atrophy OMIM:611726
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Sensory axonal neuropathy, Gait ataxia, Cerebellar... OMIM:617770
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, CNS... OMIM:616494
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Spastic tetraparesis, Peripheral... OMIM:249900
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Limb ataxia, Demyelinating motor neuropathy, Head tremor, Demyelinating sensor... ORPHA:101085
Autosomal Dominant Spastic Paraplegia Type 17
Babinski sign, Distal sensory impairment, Abnormal motor nerve conduction velocity, Spastic gait,... ORPHA:100998
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia,... OMIM:610357
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Abnormal peripheral action potential amplitude, Decreased nerve conduction vel... ORPHA:457205
Friedreich Ataxia
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Impaired vibratory sensation, A... OMIM:229300
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
EEG abnormality, Inability to walk, Cerebral atrophy, Oculogyric crisis, Myoclonus, Hyperkinetic ... OMIM:614254
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Ataxia, Cerebral atrophy, Cerebellar atrophy, Upper limb spasticity, Lower limb spast... OMIM:613925
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Positive Romb... OMIM:601152
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... ORPHA:210571
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Abnormal electroretinogram, Decreased nerve conduction v... ORPHA:1933
Nescav Syndrome
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Babinski sign, Peripheral axonal ... OMIM:614255
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, EEG abnormality, Cerebral atrophy, Neurodegeneration, Optic atrophy, Cerebellar atrophy OMIM:610951
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Developmental And Epileptic Encephalopathy 38
Hypertonia, Ataxia, Dystonia OMIM:617020
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Scoliosis, Peripheral axonal neuropathy, Optic atrophy, Spasticity, Cerebellar atrophy, S... OMIM:617207
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... OMIM:600882
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Unsteady gait, Impaired vibratory sensation ORPHA:139536
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:608029
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... OMIM:118220
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia OMIM:615159
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Gait disturbance, Upper limb spasticity, ... OMIM:611225
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Cerebral cortical atroph... OMIM:604326
Infantile Neuroaxonal Dystrophy
Ataxia, Abnormal autonomic nervous system physiology, Abnormality of visual evoked potentials, Ab... ORPHA:35069
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Peripheral axonal neuropathy, Distal sensory impairment, Optic atrophy, Opti... OMIM:617087
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, EEG abnormality, Demyelinating peripheral neuropathy, Dysmetria, Spastic paraparesis, Myo... ORPHA:313772
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, Cogwheel... OMIM:616981
Developmental And Epileptic Encephalopathy 69
EEG abnormality, Inability to walk, Cerebral cortical atrophy, Myoclonus, Hyperkinetic movements,... OMIM:618285
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... OMIM:616127
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Abnormality of visual evoked potentials, Temporal op... ORPHA:1215
Leukodystrophy, Hypomyelinating, 5
Abnormal cerebellum morphology, Loss of ambulation, Truncal titubation, Intention tremor, Onion b... OMIM:610532
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Upper limb spasticity, Cerebral atrophy, Impaired vibration sensation in the lower limb... OMIM:614409
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Decreased nerve conduction velocity, Tip-toe gait, Abnormality of visual evoked poten... ORPHA:309256
Lopes-Maciel-Rodan Syndrome
Hypertonia, Kyphosis, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Scol... OMIM:617435
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Dysmetria, Scoliosis, Gait ataxia, Spasticity, Cerebellar atrophy, Dys... OMIM:611390
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Abnormal py... OMIM:256600
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Dysmetria, Limb ... OMIM:607136
Gordon Holmes Syndrome
Ataxia, Cerebral atrophy, Cerebellar atrophy OMIM:212840
Leukodystrophy, Hypomyelinating, 6
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... OMIM:612438
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... ORPHA:98756
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Cerebellar hypoplasia, Atrophy/Degeneration affecting the b... OMIM:619971
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldin... OMIM:118200
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy OMIM:615705
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Delayed myelination, Myoclonus, Rigidity, Scoliosis, Athetosis, Gait disturban... OMIM:618241
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Inability to walk, Abnormal amplitud... ORPHA:168491
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Babinski sign, Rigidity, ... ORPHA:100984
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Spastic paraparesis, Axonal degeneration, Dysd... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Cerebral cortical atrophy, Cere... ORPHA:320391
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... OMIM:164400
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmyelinating leukodystrophy, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign... OMIM:612319
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Delayed myelination, Cerebral atrophy, Chorea, Involuntary movements, ... OMIM:617804
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypertonia, EEG abnormality, Abnormality of visual evoked potentials, Abnormal electroretinogram,... ORPHA:2971
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy OMIM:612016
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Spastic Paraplegia 20, Autosomal Recessive
Abnormal cerebellum morphology, Kyphoscoliosis, Upper limb spasticity, Dysmetria, Spastic parapar... OMIM:275900
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Inability to walk, Lumbar hyperlordosis, Cerebral atrophy, De... OMIM:616756
Spastic Paraplegia 10, Autosomal Dominant
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:604187
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Inability to walk, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait... OMIM:617810
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... OMIM:604563
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy OMIM:617916
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Diffuse cerebellar atrophy, EEG with irregular generalized spike and wave complexes, ... ORPHA:352596
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign OMIM:605726
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Abnormality of visual evoked p... ORPHA:309263
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal sensory impairment OMIM:608895
Neurodegeneration With Brain Iron Accumulation
Rigidity, Chorea, Optic atrophy, Spasticity, Cerebellar atrophy, Dystonia, Abnormality of extrapy... ORPHA:385
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... OMIM:619028
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Peripheral axonal neuropathy, Optic atrophy, Difficulty walking, Progressive spast... ORPHA:468661
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Cerebral atrophy, Leukodystrophy, Abnormal pyramidal sign, Scoliosis, Head titubation, Pr... ORPHA:527497
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Inability to walk, Hyperkinetic movements, Scoliosis, ... OMIM:618218
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Cerebral atrophy, Chorea, Spastic tetraplegia, Cerebellar atrophy, Clonus OMIM:613811
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... ORPHA:453521
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Babinski sign, Sco... ORPHA:93952
Leukodystrophy, Hypomyelinating, 21
Failure to thrive, Ataxia, Corpus callosum atrophy, Tetraparesis, Athetosis, Optic atrophy, Cereb... OMIM:619310
Spinocerebellar Ataxia 49
Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropat... OMIM:619806
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Optic atrophy, Tremor, Difficulty w... ORPHA:137898
Developmental And Epileptic Encephalopathy 92
Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia, ... OMIM:617829
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Folinic Acid-Responsive Seizures
Broad-based gait, Hypertonia, Ataxia, Delayed myelination, Cerebral hypomyelination, Chorea, Opti... ORPHA:79097
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... ORPHA:401820
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Abnormal nervous system electrophysiology, Cerebral atrophy, Myoclonus, Increased extrane... OMIM:204500
Spinocerebellar Ataxia Type 11
Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Dystonia ORPHA:98767
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Distal se... OMIM:256840
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Ataxia, Decreased body weight, Cerebral cortical atrophy, Demyelinating periph... OMIM:614559
Microcephaly, Seizures, And Developmental Delay
Ataxia, Cerebellar atrophy OMIM:613402
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance OMIM:609161
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Neuronal loss in central nervous system, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, P... ORPHA:101082
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:618369
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... OMIM:224050
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Scoliosis, Brain atrophy, Cerebellar atrophy OMIM:618741
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Ataxia, Upper motor neuron dysfunction, Progressive cerebellar ataxia ORPHA:3177
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Cerebellar atrophy OMIM:617915
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Limb ataxia, Leukodystrophy, Abnormal pyramidal sign, Truncal ataxia, Head titubatio... OMIM:617560
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Cerebral atrophy, EEG with focal epileptiform discharges, Myoclonu... ORPHA:263516
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Clumsiness, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Ce... OMIM:610003
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... OMIM:618093
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:614820
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... OMIM:619054
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Glut1 Deficiency Syndrome 1
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Paroxysmal lethargy, Choreoatheto... OMIM:606777
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunc... ORPHA:309271
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Cerebellar atr... OMIM:607250
Pontocerebellar Hypoplasia, Type 1E
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, EEG with burst suppression, Optic atrop... OMIM:619303
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Postural tremo... ORPHA:100988
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Demyelinating peripheral neuropathy, Limb ataxia, Hand tremor,... OMIM:607596
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Parkinsonism, Increased neuronal autofluoresce... OMIM:162350
Multiple Mitochondrial Dysfunctions Syndrome 6
Failure to thrive, Ataxia, Dysmetria, Optic disc pallor, Spasticity, Cerebellar atrophy, Dystonia OMIM:617954
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Kyphosis, Cerebral cortical atrophy, Dysmetria, Intention tremor... ORPHA:48431
Optic Atrophy 1
Optic atrophy, Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials OMIM:165500
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Impaired vibration sensation in the lower l... OMIM:607259
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Gait ataxia, Limb ataxia ORPHA:404499
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Leukodystrophy, Hypomyelinating, 15
Failure to thrive, Ataxia, Loss of ambulation, Cerebral atrophy, Intention tremor, Leukodystrophy... OMIM:617951
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormal autonomic nervous system physiology... OMIM:300894
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait ORPHA:284271
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, EEG abnormality, Hand tremor ORPHA:86814
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Ce... OMIM:605361
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Inability to walk, Limb ataxia, Gait disturbance, Optic disc pallor, Cerebellar ... OMIM:617166
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Impaired vibratory sensation, Babinski sign, Peripheral axonal neuropathy, Spastic p... OMIM:619686
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... ORPHA:71517
Peroxisome Biogenesis Disorder 8B
Failure to thrive, Ataxia, Cerebellar vermis atrophy, Spastic paraparesis, Dysmetria, Leukodystro... OMIM:614877
Pelizaeus-Merzbacher Disease
Ataxia, Abnormality of visual evoked potentials, Optic atrophy, Gait disturbance, Choreoathetosis... ORPHA:702
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Gait disturbance, ... ORPHA:98764
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:615386
Krabbe Disease
Hypertonia, Failure to thrive, EEG abnormality, Decreased nerve conduction velocity, Decerebrate ... OMIM:245200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Gait dist... OMIM:125250
Spinocerebellar Ataxia 25
Ataxia, Abolished vibration sense, Babinski sign, Scoliosis, Decreased number of peripheral myeli... OMIM:608703
Developmental And Epileptic Encephalopathy 44
Failure to thrive, Delayed myelination, Cerebral atrophy, Athetosis, Spasticity, Cerebellar atrop... OMIM:617132
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... ORPHA:352641
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Ataxia, Cerebral cortical atrophy, Peripheral axonal neuropathy, Optic atrophy, Difficulty walkin... OMIM:619425
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Inability to walk, Cerebral atrophy, Leukodystrophy, Cerebellar atrophy, Hypsarrh... OMIM:618006
Hereditary Methemoglobinemia
Hypertonia, Temporal cortical atrophy, Frontal cortical atrophy, Delayed myelination, Small for g... ORPHA:621
Huntington Disease
Neuronal loss in central nervous system, Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar ... OMIM:143100
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Decreased body weight, Sensory ataxia, Cerebral atrophy, Demyelinating peripheral neuropathy, Bab... ORPHA:445062
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Ataxia, Hemiparesis, Peripheral demyelination OMIM:165200
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Cerebral cortical atrophy, Dysmetria, Leukodystrophy, Babinski sign, ... OMIM:607694
Mental Retardation, X-Linked 82
Kyphosis, EEG abnormality, Scoliosis OMIM:300518
Autosomal Recessive Ataxia, Beauce Type
Chronic axonal neuropathy, Ataxia, Upper motor neuron dysfunction, Clumsiness, Kyphosis, Dysmetri... ORPHA:88644
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chronic axonal neuropathy, Limb ataxia, Pontocerebellar atrophy, Decreased motor nerve conduction... OMIM:606002
Sialidosis Type 1
Kyphosis, Ataxia, EEG abnormality, Decreased nerve conduction velocity, Myoclonus, Scoliosis, Abn... ORPHA:812
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... ORPHA:157941
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... OMIM:606183
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Ataxia, Brain atrophy, Leukodystrophy, Babinski sign, Optic atrophy, Cerebella... OMIM:618226
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Limb... OMIM:117360
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Cerebral cortical atrophy, Decreased nerve conduction velocity, Spastic parapa... OMIM:238970
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Scoliosis, Optic atrophy, Tremor, Difficulty walking, Diffu... ORPHA:330050
Friedreich Ataxia
Gait imbalance, Inability to walk, Poor fine motor coordination, Limb ataxia, Dysmetria, Intentio... ORPHA:95
Spinocerebellar Ataxia 34
Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... OMIM:133190
Spastic Paraplegia 48, Autosomal Recessive
Broad-based gait, Ataxia, Dysmetria, Parkinsonism, Spastic paraplegia, Spastic gait, Lower limb s... OMIM:613647
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Ataxia, Babinski sign, Distal sensory impairment, Gait disturbance, Spasticity, Waddling gait, St... OMIM:617882
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Abnormal lumbar spine morphology, Spastic paraplegia, Cervical spondylosis, Abnormal... ORPHA:101005
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block ORPHA:641
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Abnormality of extrapyramidal motor function, Cerebellar atrophy OMIM:301020
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia OMIM:616267
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Sensory axonal ne... OMIM:609307
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Babinski sign, Chorea, Gait disturbance, Optic atrop... OMIM:250100
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Dy... ORPHA:139485
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic atrophy, Spasticity, Cerebellar atrophy, Hypsarrhythmia OMIM:617086
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Kyphoscoliosis, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decrea... OMIM:604168
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Hyp... OMIM:617065
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Combined Oxidative Phosphorylation Defect Type 39