Gene Summary

Name:
contactin associated protein-like 1
Synonyms:
Caspr,  NCP1,  paranodin,  p190,  Nrxn4,  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
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, CNS hypomyelination, Cerebellar atrophy, Decreased motor nerve conduction velocity, F... OMIM:618186
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Facial diplegia, Cerebral atrophy OMIM:616286
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
X-Linked Spastic Paraplegia Type 34
Shuffling gait, Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Low... ORPHA:171607
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Spastic paraplegia, Paraplegia, Babinski sign, Clonus, Spastic gait OMIM:300750
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
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
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi... OMIM:601098
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Clonus, Tip-toe gait OMIM:607584
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Fall... ORPHA:2932
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal ... OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Angelman syndrome (Type 2)
Truncal ataxia, EEG abnormality DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, EEG abnormality DECIPHER:4
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Decreased motor nerve conduction velocity, Paresthesia, Gait imbalanc... ORPHA:101081
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Distal upper limb muscle w... OMIM:618912
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Decreased compound muscle action potential amplitude, Babinski sign, Chaddock... OMIM:619112
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C... ORPHA:206594
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Hereditary Motor And Sensory Neuropathy V
Spasticity, Decreased motor nerve conduction velocity, Difficulty walking, Limb muscle weakness, ... OMIM:600361
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:302801
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Difficulty walking, Distal... OMIM:608323
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Delayed CNS my... OMIM:619742
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Dista... OMIM:302802
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Babinski sign,... ORPHA:98890
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Failure to thrive, Myoclonus... OMIM:616494
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia ORPHA:101078
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Somatic sensory dysfunction, Abnormal motor evoked potentials, ... ORPHA:99939
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio... ORPHA:352675
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebral palsy OMIM:605388
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Decreased motor nerve conduction ve... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot ... OMIM:609260
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Somatic sensory dysfunction OMIM:612577
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal cord paralysis, ... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal upper limb muscle weakness, Decreased amplitude of sensory action potentials, Failure to t... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Impaired pain sensa... OMIM:607684
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... OMIM:615127
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... DECIPHER:29
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Impaired pain sensation, Impaired distal vibration sensation OMIM:300905
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal sensory impairment,... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsiflexor weakness, Dista... OMIM:118210
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia OMIM:212710
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
X-Linked Complicated Spastic Paraplegia Type 1
Upper motor neuron dysfunction, Spastic paraplegia, Ataxia ORPHA:306617
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:616687
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Babinski sign, Dysdiadochokin... ORPHA:101007
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Difficulty walking, Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sen... OMIM:620111
Autosomal Spastic Paraplegia Type 30
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... ORPHA:101010
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, CNS hypomyelination, Decreased motor nerve conduction velocity... OMIM:214400
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Steppage gait, Impaired distal tactile sensation, Dist... OMIM:610100
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor... OMIM:180800
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Leukodystrophy, Hypomyelinating, 2
Poor head control, Optic atrophy, Spastic paraparesis, Decreased motor nerve conduction velocity,... OMIM:608804
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Quadriceps muscle weak... ORPHA:99948
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Spasticity, Spastic paraplegia, Inability to walk, Abnormality of peripheral nerve... ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:605588
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Difficulty walking,... OMIM:605285
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Spasticity, Tip-toe gait, Scissor gait, Clonus ORPHA:101004
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ... OMIM:600143
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Difficulty... OMIM:615575
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Difficulty walking, He... ORPHA:527497
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:3115
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper... ORPHA:276435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:607678
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Neuropathy, Congenital Hypomyelinating, 2
Sensory ataxia, Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, De... OMIM:618184
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve co... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:607734
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Distal sensory impairment, Proxima... ORPHA:99944
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Limb dystonia, ... OMIM:617560
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Monomelic Amyotrophy
Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve conduction, ... ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Delayed CNS myeli... OMIM:618468
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Fasciculations, Foot dorsiflexor weakness, Distal sens... OMIM:606595
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Upper limb muscle weakness, Abnormal motor nerve conduction velocit... ORPHA:139536
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atro... OMIM:617951
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Babinski sign, Scissor gait, Gait disturbance, Clonus, Hypertonia, Impaired v... OMIM:615686
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Decreased com... OMIM:618279
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Ank... OMIM:615681
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Impair... OMIM:270685
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait di... ORPHA:363710
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Positive Romberg sign, Gait ata... OMIM:608984
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Somatic sensory dys... ORPHA:99950
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Spasticity, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Le... OMIM:607694
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,... ORPHA:206443
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Difficulty ... ORPHA:79097
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction veloci... OMIM:607250
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fasciculations, Decreased... OMIM:600882
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia ORPHA:1397
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... OMIM:616688
Autosomal Recessive Spastic Paraplegia Type 21
Spasticity, Frontotemporal cerebral atrophy, Difficulty walking, Abnormal cerebellum morphology, ... ORPHA:101001
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B... OMIM:249900
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Difficu... OMIM:302800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia ORPHA:2274
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnormal cranial nerve mor... OMIM:605253
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Cerebral cortical atrophy, Spasticity, Optic atrophy, CNS hypomyelination, Leukodystrophy... ORPHA:447896
Charcot-Marie-Tooth Disease, Type 4B3
Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve conduction velocity, Dist... OMIM:615284
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebel... ORPHA:1188
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Optic atrophy, Tetraparesis, Fasciculations, Po... OMIM:615491
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Fasciculations,... ORPHA:98755
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Decreased a... OMIM:608673
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Slurred speech ORPHA:98766
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, EEG with photoparoxysmal res... OMIM:616230
Giant Axonal Neuropathy
Spasticity, Falls, CNS hypomyelination, Difficulty walking, Abnormal cerebellum morphology, Dista... ORPHA:643
Autosomal Dominant Spastic Paraplegia Type 17
Ankle weakness, Postural tremor, Abnormal motor nerve conduction velocity, Foot dorsiflexor weakn... ORPHA:100998
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Distal upper limb muscle weakness, Decreased motor nerve conduction... ORPHA:99953
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Ca... ORPHA:300605
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s... OMIM:270550
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Decreased motor nerve conduction velocity, Peripheral de... OMIM:145900
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, EEG with generalized polyspikes, Ataxia OMIM:614706
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye... OMIM:612438
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... OMIM:159550
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Di... OMIM:612674
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Ankle clonus, Babin... OMIM:611252
Hereditary Methemoglobinemia
Spasticity, Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Small for gestat... ORPHA:621
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ab... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment... ORPHA:497764
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar ve... OMIM:614381
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Ankle weakness, Limb muscle weakness, Foot dorsiflexor... OMIM:118300
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Ataxia With Vitamin E Deficiency
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Foot dorsiflexor weakness,... OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Proximal muscle weakness in upper limbs, Decreased motor nerve conduction velocity, L... OMIM:620068
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Brain atrophy ORPHA:363432
Choreoathetosis, Familial Inverted
Gait disturbance, Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity OMIM:118750
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Undetectable ... ORPHA:1947
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsiflexor weakness, Dista... OMIM:118220
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Abnormal motor evoked potentials, Difficulty walking, Impaired tactile sensation, Abn... ORPHA:98
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, Cerebellar atrophy, Gait ataxia, EEG... OMIM:619323
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Difficulty walking, Dysmetria, Progressive gait ataxia, Clumsiness,... ORPHA:284332
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Cerebral hypomyelination,... OMIM:300475
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... ORPHA:98762
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:601455
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar ve... OMIM:614255
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia OMIM:611031
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity, Poor head control, Dystonia, Choreoathetosis OMIM:614932
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Failure to thr... ORPHA:369939
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Progressive spastic paraparesis, Spastic ataxia, Spastic tetra... ORPHA:496756
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis... OMIM:613724
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot dorsiflexor weaknes... OMIM:614436
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Myoclonus, Intention ... OMIM:618356
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ... ORPHA:101085
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor functio... ORPHA:289494
Spastic Paraplegia 44, Autosomal Recessive
Spastic paraplegia, CNS hypomyelination, Dysmetria, Distal sensory impairment, Babinski sign, Low... OMIM:613206
Mepan Syndrome
Optic atrophy, Spasticity, Hemidystonia, Chorea, Myoclonus, Limb dystonia, Axial dystonia, Cranio... ORPHA:508093
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Impaired pain sensatio... ORPHA:139578
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Cerebral corti... OMIM:238970
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentia... ORPHA:52368
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Limb muscle weakness, Foot d... OMIM:118200
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Hypsarrhyth... OMIM:613477
Autosomal Recessive Spastic Paraplegia Type 76
Limb ataxia, Gait ataxia, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia ORPHA:488594
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... OMIM:606353
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po... OMIM:618276
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Lower limb spasticity, Gait d... OMIM:611225
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... OMIM:607317
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Developmental And Epileptic Encephalopathy 93
Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait... OMIM:618012
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia... OMIM:603516
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, Lower lim... OMIM:619389
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Arm dystonia, Undetectable visual evoked potentials, Episodic ataxia, Incoordinati... OMIM:601338
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Kaya-Barakat-Masson Syndrome
Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Limb dystonia, Scoliosis, ... OMIM:619125
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Delayed CNS myelination, Scolios... OMIM:619090
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hypogonadism, Hemiplegia/hemiparesis, Gait disturba... ORPHA:2815
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive c... ORPHA:98763
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, T... OMIM:619260
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, Gait disturbance, Dystonia OMIM:620515
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:611726
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impa... OMIM:618387
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, EEG abnormality, Ataxia OMIM:610951
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia OMIM:260970
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle weakness, Decreased motor nerve conduction velocity OMIM:614751
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lowe... OMIM:617916
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Friedreich Ataxia
Impaired vibratory sensation, Optic atrophy, Decreased amplitude of sensory action potentials, Li... OMIM:229300
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, Ataxia, Upper limb spast... OMIM:613925
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext... OMIM:615362
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexor weakness, Distal ... OMIM:604563
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Spasticity, CNS hypomyelination, Failure to thrive, Inability to walk, Delayed CNS myelination, E... OMIM:616577
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormal electroretinogram, Abnormality of visual evoked pot... ORPHA:1933
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov... OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Optic atrophy, EEG with irregular generalized spike and wave complexe... ORPHA:352596
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Decreased motor nerve conduction velocity, Hand tremor, Distal sensory imp... OMIM:162400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Speech apraxia, Ch... OMIM:615356
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Kyphosis, Chorea, Paresthesia, Abnormality of peripheral nerve conduct... ORPHA:48431
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Inability to... ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiadochokinesis OMIM:615386
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Spasticity, Leukodystrophy, Babinski sign, Spastic ataxia, Abnormal pyramidal sign... OMIM:616859
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,... ORPHA:313772
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Somatic sensory dysfunction, Musc... ORPHA:101082
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination, Spina bifida occulta, Babinski sign, Lower limb spasticity, Ataxia, Optic di... OMIM:615281
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Abnormal pyramidal sign, Abnormal cerebellum morphology ORPHA:85163
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Combined Oxidative Phosphorylation Defect Type 13
Failure to thrive, Decreased nerve conduction velocity, Limb dystonia, Poor head control, Delayed... ORPHA:319514
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Hypsarrhythmia, EEG abnormality, Dystonia, ... OMIM:618285
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dys... OMIM:612319
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Falls, CNS hypomyelination, Dysmetria, Proximal muscle weakness, Gowers sign,... OMIM:618863
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Chorea, Pos... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic atrophy, Decreased motor nerve conduction velocity, Positive Romberg si... OMIM:601152
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action... ORPHA:457205
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Spasticity, Tip-toe gait, Decreased nerve conduction velocity, Gait ataxia, Dyston... ORPHA:309256
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, M... OMIM:614254
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Scoliosis, Cerebellar atrophy, Inability to walk, Myoclonus, Rigidity, Loss of amb... OMIM:618241
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Cerebellar atrophy, Ataxia, Scoliosis, Spastic tetraplegia OMIM:617207
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal sensory impairment, Proximal muscle weakness, D... OMIM:607831
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Fo... ORPHA:101076
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Spasticity, Delayed CNS myelination OMIM:618185
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, EEG with burst suppression, Myoclonus, Cerebellar hypoplasia, Atrophy/Degener... OMIM:619971
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Decreased motor nerve... ORPHA:98856
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Developmental And Epileptic Encephalopathy 78
Spasticity, CNS hypomyelination, Cerebral palsy, Inability to walk, Chorea OMIM:618557
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, EEG abnormality, Hand tremor ORPHA:86814
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Myoclonus, Tremor OMIM:615400
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ... ORPHA:1175
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,... OMIM:617810
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor... OMIM:125250
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal muscle weakness, Distal sensory impairment OMIM:608895
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity, Abnormal pyramidal sign, Ataxia, Unsteady gai... OMIM:256600
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia OMIM:620221
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Dystonia, Cerebellar hypoplasia, Ataxia, Trunc... OMIM:601238
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Inability to walk, Abnormal amplitude of flash visual evoked potentials, EEG with gen... ORPHA:168491
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis, Ankle weakness, Difficulty walking, Decreased ... ORPHA:600
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Clumsiness, EEG abnormality, Increased neuronal autofluores... OMIM:610003
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal upper limb muscle weakness, Impaired distal vibration sensation, Decreased compound muscle... OMIM:619519
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak... ORPHA:641
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormal electroretinogram, Gait disturbance, EEG abnormality, Hypertonia, Abnorma... ORPHA:2971
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... OMIM:617145
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Cerebral atrophy, EEG with burst suppression, Tremor, Cerebral hypomyelinatio... OMIM:612164
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Absent brainstem auditory responses, Ataxia, Temporal optic di... ORPHA:1215
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, ... OMIM:620158
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, EEG with focal epile... ORPHA:599373
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Failure to thrive, Decreased body w... OMIM:614559
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Adenylosuccinase Deficiency
Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Hemiple... OMIM:103050
Infantile Neuroaxonal Dystrophy
Ataxia, Optic atrophy, Spasticity, Abnormality of peripheral nerve conduction, Dystonia, Abnormal... ORPHA:35069
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore... OMIM:164400
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul... OMIM:618088
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, C... ORPHA:280210
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculomotor apraxia, Unsteady gait, T... ORPHA:453521
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Cerebral atrophy, Inability to walk, Obesity, Lumbar hyperlordosis, Lower limb ... OMIM:616756
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Spasticity, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Le... OMIM:619576
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, EEG abnormality, Ataxia, ... OMIM:617829
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Spastic ... ORPHA:137898
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination, Upper limb hypertonia, Inability to walk, Babinski sign, Short neck, Optic d... OMIM:619328
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's ... OMIM:608105
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination, Inability to walk, Rigidity, Hypertonia, Scoliosis, Choreoathetosis OMIM:620023
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Intenti... OMIM:224050
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Dysmetria, A... OMIM:617954
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Inability to walk, Kyphoscoliosis, Hypsarrh... OMIM:618006
Spinocerebellar Ataxia Type 11
Difficulty walking, Gait imbalance, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:98767
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Focal EEG discharges with se... ORPHA:263516
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Cerebellar atrophy, Failure to thrive, Tetraparesis, Corpus callosum atrophy, Atax... OMIM:619310
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Spasticity, Decreased nerve conduction velocity, Dystonia, Clumsiness, Babinski si... ORPHA:309263
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation... OMIM:616680
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive extrapyramidal movement disorder, Pseudobulbar paralysis, Difficulty walking, Dysmetr... ORPHA:438114
Prune1-Related Neurological Syndrome
Tongue fasciculations, Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... ORPHA:544469
Krabbe Disease
Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Periphe... OMIM:245200
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Ataxia OMIM:619191
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Myoclonus,... OMIM:619303
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis OMIM:614820
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity... OMIM:218000
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Delayed CNS myelination, Head titubation... OMIM:618688
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign ORPHA:468661
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia OMIM:613402
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... OMIM:606777
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperkinetic movements, Delayed CNS myelination, EEG abnormality, Ataxia OMIM:271980
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Scoliosis, Cerebellar atrophy, Brain atrophy OMIM:618741
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, CNS hypomyelination, Cerebellar atrophy, Decreased motor nerve conduction velocity, F... OMIM:618186
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Ataxia OMIM:165500
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Delayed CNS myelination, Dys... OMIM:617132
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Upper limb hype... OMIM:607259
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, EEG abnormality, Ataxia, Dyston... OMIM:618218
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased nerve... OMIM:618138
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance, Muscle weakness, Truncal obesity ORPHA:2928
Developmental And Epileptic Encephalopathy 86
Dystonia, CNS hypomyelination, Small for gestational age OMIM:618910
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, CNS hypomyelination, Ataxia OMIM:619688
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Gait imbalance, Gait ataxia, Cerebellar hypoplasia, EEG with focal spikes, Se... ORPHA:488635
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia OMIM:616366
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun... OMIM:607346
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Tip-toe gait, Cerebral atrophy, Decreased nerve conduction velocity, Leg d... ORPHA:565624
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Abnormal nervous system electrophysiology, Myoclonus, Increased extrane... OMIM:204500
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Limb ataxia, Gait ataxia ORPHA:404499
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem... ORPHA:330050
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... OMIM:617435
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Difficulty wal... ORPHA:320391
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Spasticity, Difficulty walking, Decreased nerve conduction velocity, Chorea, Dysto... ORPHA:309271
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Decreased distal sensory nerve action potential, Gait disturbance, Imp... OMIM:618400
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Cerebellar atrophy, Inability to walk, Appendicular spasticity, Delayed CNS myelin... OMIM:618324
Spinocerebellar Ataxia Type 17
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathet... OMIM:301020
Mitochondrial Complex Iii Deficiency, Nuclear Type 4