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Gene: Slc12a6 MGI:2135960

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 12, member 6
Synonyms:
KCC3,  gaxp

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc12a6 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 Slc12a6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Axonal loss, Decreased motor nerve conduction velocity, Abolished vibration sense, Motor axonal n... OMIM:620068
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Decreased motor nerve conduction velocity, Inability to walk,... OMIM:218000
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:1496

The table below shows human diseases predicted to be associated to Slc12a6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Decr... ORPHA:2932
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Hypoesthesia, Segmenta... OMIM:162500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal sensory impairment, Clusters of axonal regenera... OMIM:607734
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher... OMIM:620378
Null Syndrome
Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil... ORPHA:98765
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Axonal regeneration, Decrea... OMIM:608323
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Gait ataxia, Distal sensor... OMIM:180800
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Distal sensory impai... OMIM:118210
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment OMIM:616039
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal tactile ... OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Impaired pain sensation, Axonal degeneration/regenerat... OMIM:607706
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... ORPHA:401840
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, Peripheral demyelin... OMIM:614895
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Mental deterioration, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy... OMIM:617672
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Decreased com... OMIM:618279
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Difficu... OMIM:302800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Distal sensory impairment ORPHA:99944
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 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Axona... OMIM:609260
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Distal sensory impairment,... OMIM:118220
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:609311
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:145900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Decreased number of l... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination, ... OMIM:606483
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Difficulty walking, Distal sensory impairment, Peripheral axon... OMIM:615035
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Distal sensory impai... OMIM:605588
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Mental deterioration, Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia,... OMIM:249900
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Vocal cord paresis, Impaired pain sensation, Peripheral demyelinati... ORPHA:101097
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Akinesia, ... OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axonal degeneration/rege... OMIM:614436
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Distal sensory impai... OMIM:613641
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, C... ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:607677
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment... ORPHA:497764
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Atrophy of the spinal cord, Atrophy/Degenerati... ORPHA:445062
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe... OMIM:604168
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp... OMIM:602433
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Babinski sign, Delayed CNS myelination, Demyelinating per... OMIM:619742
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Depression, Amyotrophic lateral sclerosis, Cerebral atrophy, Tetraparesis, Abnormal lower motor n... OMIM:105550
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Cognitive im... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607731
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Memory impairment, Cerebral atrophy, Frontal lobe dementia, Peripheral demyelination,... OMIM:221770
Adult Krabbe Disease
Mental deterioration, Broad-based gait, Spasticity, Tetraparesis, Peripheral demyelination, Impai... ORPHA:206448
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Decreased amplitude of sensory action potentials, Decreased motor n... OMIM:618912
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Distal sensory i... OMIM:607250
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Decreased motor nerve conduction velocity, Paresthesia, Distal sensor... ORPHA:101081
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Cerebellar atrophy, Hearing impairment, Generalized-onset seizure, Akinesia, Trunc... OMIM:618249
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral hypomyelination,... OMIM:605285
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Frontotemporal Dementia With Motor Neuron Disease
Depression, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morph... ORPHA:275872
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
Neuropathy, Congenital Hypomyelinating, 2
Sensory ataxia, Decreased motor nerve conduction velocity, Facial diplegia, Decreased number of p... OMIM:618184
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Cerebellar atrophy, Failure to thrive, Inability to walk, Motor axonal neur... OMIM:618276
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Autosomal Recessive Spastic Paraplegia Type 5A
Spastic paraplegia, Limb ataxia, Abnormal cerebellum morphology, Sensorineural hearing impairment... ORPHA:100986
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Autonomic bladder dysfunction, Action tremor, Sensorineural hearing impairment, Ataxi... ORPHA:99027
Friedreich Ataxia
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Cardiom... ORPHA:95
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sen... OMIM:311070
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Sensory axonal neuropathy, Hand tremor, Difficulty walking, Akinesia, Limb at... ORPHA:98764
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:604563
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Resting tremor, Seizure, Inability to walk, Akinesi... ORPHA:391411
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Difficulty walking, Babinski sign,... ORPHA:320370
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Cerebellar atrophy, Falls, Generalized dystonia, Progressive spastic paraplegia, C... ORPHA:329308
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Dystonia 31
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dysto... OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Ab... ORPHA:401830
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrea... OMIM:607831
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Bradykinesia, Inability to walk, Short attention span, Myoclonus, P... OMIM:617854
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Motor axonal neuropathy, Lower limb spastici... ORPHA:139480
Autosomal Dominant Spastic Paraplegia Type 9B
Spastic gait, Postural tremor, Hypotonia, Loss of ambulation, Peripheral axonal neuropathy, Progr... ORPHA:447757
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Somatic sensory dysfunction OMIM:612577
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased n... ORPHA:101082
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle... OMIM:600882
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Depression, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Or... OMIM:169500
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Gait ataxi... ORPHA:90103
Stxbp1-Related Encephalopathy
Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivi... ORPHA:599373
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Gait disturbance, Atrophy of the spinal cord,... OMIM:612020
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... OMIM:613672
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Spasticity, Dysdiadochokinesis, Resting tremor, Akinesia, Abnormal cranial nerve ... ORPHA:247234
Superficial Siderosis
Ataxia, Cerebellar atrophy, Seizure, Vertigo, Abnormality of the vestibulocochlear nerve, Limb at... ORPHA:247245
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:620111
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:601455
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Confusion, Chorea, Gait ataxia, Action tremo... OMIM:607483
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Babi... ORPHA:101111
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Sensory axonal neuropathy, Decreased ... OMIM:608804
Primary Lateral Sclerosis
Spasticity, Progressive spastic paraparesis, Abnormal upper motor neuron morphology, Cervical spi... ORPHA:35689
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Optic disc pallor, Dysdiadochoki... ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Spasticity, Spastic paraparesis, Cervical spinal cord atro... ORPHA:363722
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Inability to walk, Decreased nerve conduction velocity, Head tremor, Limb ataxia, Ce... ORPHA:101085
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Somatic sensory dysfunction, Neuronal loss in central nervous system, P... ORPHA:71211
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Hearing impairment, Seizure, Tongue tremor, Sensory axonal neuropathy, Diffic... ORPHA:466768
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Hypokinesia, Cerebral atrophy, Hypotonia, Myoclonus, Cogwheel rig... OMIM:616981
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Inability to walk, Secondary microceph... OMIM:620317
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Distal sensory impairment, Compound muscle ... OMIM:616040
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:613287
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity ORPHA:640
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Seizure, Sensorineural hearing impairment, Spastic tetraparesis, Brain atrophy OMIM:618741
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Impaired pain sensation, Distal sensory impairment, De... OMIM:607684
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia, Generalized myocl... OMIM:610951
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal tactile sensation, Impaired distal vib... OMIM:616687
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Ataxia ORPHA:101075
Trigeminal Neuralgia
Depression, Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Par... ORPHA:221091
Metachromatic Leukodystrophy
Mental deterioration, Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demy... OMIM:250100
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... OMIM:256840
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity OMIM:608895
Neurodegeneration With Brain Iron Accumulation 6
Mental deterioration, Depression, Spastic paraparesis, Tip-toe gait, Bradykinesia, Neurodegenerat... OMIM:615643
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Somatic sensory dysfunction, ... ORPHA:99939
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Krabbe Disease
Optic atrophy, Neurodegeneration, Decreased nerve conduction velocity, Peripheral demyelination, ... OMIM:245200
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98773
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Distal sensory impairment, Tre... OMIM:606693
Charcot-Marie-Tooth Disease Type 4A
Impaired pain sensation, Decreased nerve conduction velocity, Decreased number of large periphera... ORPHA:99948
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Progressive spastic paraparesis, Peripheral axonal neuropathy,... ORPHA:496756
Amyotrophy, Hereditary Neuralgic
Low-set ears, Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... OMIM:617087
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Cogwheel rigidity, Ataxi... OMIM:607454
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal vestibular function, Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopa... ORPHA:70595
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Dem... ORPHA:506353
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Spastic paraparesis, Generalized neonatal hypotonia, Generalized non-motor (absenc... ORPHA:395
Diaminopentanuria
Neurodegeneration, Spasticity, Seizure, Ataxia OMIM:222350
Adrenoleukodystrophy
Mental deterioration, Spastic paraplegia, Neurodegeneration, Incoordination, Hypogonadism, Limb a... OMIM:300100
Autosomal Recessive Spastic Paraplegia Type 35
Mental deterioration, Difficulty walking, Peripheral demyelination, Cognitive impairment, Spastic... ORPHA:171629
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Seizure, Progressive hearing impairment, Hypotonia, Abnormal cranial n... ORPHA:97229
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Seizure, Generalized hypotonia, Abnormal sensory nerve conduction velocity, G... ORPHA:88628
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Waddling gait, Seizure, Axonal degeneration OMIM:618138
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:606595
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired vibration sensation in the lower limbs, Peripheral demyelination, Positiv... OMIM:609033
Spastic Paraplegia-Nephritis-Deafness Syndrome
Spasticity, Gait disturbance, Hypertension, Sensorineural hearing impairment ORPHA:2820
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropa... OMIM:615957
Spastic Paraplegia 11, Autosomal Recessive
Mental deterioration, Cerebral cortical atrophy, Spastic paraplegia, Tip-toe gait, Impaired vibra... OMIM:604360
Primary Angiitis Of The Central Nervous System
Transient global amnesia, Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, ... ORPHA:140989
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Cerebral cortical atrophy, Lateral ventricle dilatation, Seizure, Inability... ORPHA:2822
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration OMIM:616155
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal... OMIM:610357
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia OMIM:183050
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Tremor, Sensorineural hearing impairment, Photosensitive myoclonic sei... ORPHA:1192
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Distal sensory impairment, Myelin outf... OMIM:615284
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Seizure, Generalized hypoton... OMIM:616811
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens... ORPHA:352675
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Abnormal nerve conduction velocity, Painless fractures due to injury, Impaire... OMIM:243000
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Steppage gait, Paraparesis, Distal sensory impairment OMIM:302802
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Hearing impairment, Neurodegeneration, Gait ataxia, Telangiectasia of the ski... ORPHA:438134
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Hypokinesia, Cerebral atrophy, Postural tremor, Abnormal cerebellum morpholog... ORPHA:98762
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Cerebellar vermis atrophy, Myoclonus, Limb dysmetria, Tremor, ... ORPHA:363710
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Hypokinesia, Tremor, Rigidity, Gait disturbance, Dysdiadochokinesis OMIM:609161
Hereditary Motor And Sensory Neuropathy V
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:600361
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Optic atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination OMIM:616287
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Seizure, Spastic tetraparesis, Neurodegene... OMIM:612319
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Difficulty walking, Head tremor, Peripheral axonal neuropathy, Abnormal pyramid... ORPHA:320391
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation i... ORPHA:320406
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Abnormal muscle tone, Neurodegeneration, Axonal... ORPHA:478029
Adrenomyeloneuropathy
Spasticity, Spastic gait, Progressive spastic paraparesis, Axonal degeneration, Dorsal column deg... ORPHA:139399
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Ataxia ORPHA:101078
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... ORPHA:444099
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Craniofacial dystonia, Hypotonia, Axonal degeneration OMIM:620011
Spastic Paraplegia 84, Autosomal Recessive
Spastic paraplegia, Tip-toe gait, Difficulty walking, Cervical spinal cord atrophy, Hypertonia OMIM:619621
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:3115
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebral cortical atrophy, Involuntary movements, Sensory axonal neuropathy, Cereb... OMIM:271245
Neuropathy, Hereditary Sensory, Type Ie
Memory impairment, Cerebral atrophy, Dementia, Irritability, Decreased number of peripheral myeli... OMIM:614116
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation... OMIM:616680
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Dysmetria, Demyeli... OMIM:618404
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Spastic gait, Falls, Decreased motor nerve conduction velocity, Progressive truncal a... OMIM:270550
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Seizure, Neurodegenerati... OMIM:256600
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysme... ORPHA:48431
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Olivopontocerebellar atrophy, ... OMIM:278800
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Distal sensory impairment, Chronic axonal neuropathy, ... OMIM:162400
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia... OMIM:608984
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ataxia, Broad-based gait, Seizure, Telangiectases producing 'marbled' skin, Hypertension, Brain a... OMIM:206570
Lichtenstein-Knorr Syndrome
Vestibular hypofunction, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia,... OMIM:616291
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tacti... ORPHA:206443
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Bilateral tonic-c... OMIM:619911
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Abnorma... OMIM:616840
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Tremor ORPHA:99965
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Seizure, Congenital sensorineural hearing impairment, Akinesia, Hypotonia, Sensorineural hearing ... OMIM:619147
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Depression, Memory impairment, Cerebellar atrop... ORPHA:157941
Dpagt1-Cdg
Cerebral cortical atrophy, Optic atrophy, Global brain atrophy, Hearing impairment, Seizure, Inab... ORPHA:86309
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Head tremor, Gait a... ORPHA:95433
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Opticocochleodentate Degeneration
Optic atrophy, Spastic tetraplegia, Hearing impairment, Cochlear degeneration OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Limb ataxia, Gait ataxia, Somatic sensory dysfunction OMIM:619862
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... ORPHA:43
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Generalized hypotoni... OMIM:128100
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Axonal loss, Decreased motor nerve conduction velocity, Abolished vibration sense, Motor axonal n... OMIM:620068
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Mental deterioration, Spastic gait, Cerebellar atrophy, Spastic par... OMIM:614409
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Cer... ORPHA:79282
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Impaired pain sensation, Decreased nerve conduction velocity, Impaired vibration sensation in the... ORPHA:435387
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Peripheral axonal neur... ORPHA:313772
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity OMIM:605726
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Ata... OMIM:615889
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Impaired distal ta... OMIM:618400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Abnormal vestibular function, Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopa... OMIM:607459
Leukodystrophy, Hypomyelinating, 13
Ataxia, Optic atrophy, Delayed brainstem auditory evoked response conduction time, Failure to thr... OMIM:616881
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Babinski sign, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral... OMIM:620542
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Aplasia/Hyp... ORPHA:231169
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Distal sensory impairment, Impaired distal ... OMIM:619519
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, R... ORPHA:329284
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Seizure, Cochlear degeneration ORPHA:3233
Developmental And Epileptic Encephalopathy 28
Ataxia, Optic atrophy, Spasticity, Hypokinesia, Generalized non-motor (absence) seizure, Cerebral... OMIM:616211
Mitochondrial Dna Depletion Syndrome 18
Falls, Failure to thrive, Axonal degeneration OMIM:618811
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Compulsive behaviors, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild... ORPHA:500166
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Dysdiadochokinesis, Aplasia of the in... OMIM:610185
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy OMIM:614932
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Hypotonia, Sensorineural hearing im... OMIM:614559
Amyotrophy, Monomelic
Cervical spinal cord atrophy OMIM:602440
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton... ORPHA:216866
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dysmetria, ... OMIM:159550
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Atrophy of the spinal cord, Diffu... ORPHA:86822
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Global brain atrophy, Prelingual sensorineural heari... ORPHA:52368
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Neonatal hypotonia, Decreased nerve conduction velocity, Axonal degeneration, Peripheral axonal d... OMIM:604320
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Dysmetria, Distal sensory impairment, Demyeli... OMIM:612674
Hsd10 Disease
Optic atrophy, Frontotemporal cerebral atrophy, Spastic paraparesis, Short attention span, Myoclo... ORPHA:391417
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Corticobasal Syndrome
Limb myoclonus, Progressive extrapyramidal muscular rigidity, Akinesia, Limb dystonia, Myoclonus,... ORPHA:454887
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Impaired distal vibration sensation ORPHA:276435
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Decreased motor nerve conduction velocity, Inability to walk,... OMIM:218000
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Seizure, Generalized hypotonia, ... OMIM:609924
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Cerebral atrophy, Decreased nerve conduction velocity, Periphera... OMIM:609136
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Atrophy of the spinal cord, Spinal cord compression, Hypertonia,... ORPHA:35125
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia, Limb dystonia, Myoclonus, Tremor, Rigidity, Axial hypotonia OMIM:605407
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, CNS demyelination, Co... ORPHA:909
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Sensorineural hearing impairment, D... OMIM:300475
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe... OMIM:608703
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1188
Chudley-Mccullough Syndrome
Seizure, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesi... OMIM:604213
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, High-frequency sensorineural hearing impairment, Seizure... ORPHA:2590
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Progressive sensorineural hearing impairment, Tremor, Postlingual... OMIM:304700
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Difficulty walking, Peripheral axonal neuropathy, Parkinsonism, Cognitive im... ORPHA:397725
Combined Oxidative Phosphorylation Deficiency 1
Spasticity, Global brain atrophy, Hypokinesia, Seizure, Hypertonia, Axial hypotonia OMIM:609060
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Hearing impairment, Cerebral atrophy, Seizure, Ne... ORPHA:391428
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Impaired pain sensation ORPHA:2926
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mental deterioration, Optic atrophy, Shuffling gait, Spasticity, Spastic paraparesis, Hand tremor... ORPHA:289560
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Spastic tetraparesis, Difficulty walking, Abnormality of somatosensory evoked potenti... ORPHA:280219
Chédiak-Higashi Syndrome
Epistaxis, Spastic paraplegia, Cerebellar atrophy, Seizure, Inability to walk, Decreased nerve co... ORPHA:167
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... ORPHA:363654
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Seizure, Generalized hypotonia... OMIM:616239
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:614455
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Difficulty walking, Obesity, Hypoplasia of the corpus callosum, Delayed periphe... ORPHA:464282
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Abnormality of ... ORPHA:98755
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Soma... ORPHA:99950
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Orthostatic hypote... ORPHA:411602
Postencephalitic Parkinsonism
Oculogyric crisis, Resting tremor, Seizure, Akinesia, Cogwheel rigidity, Rigidity, Tremor by anat... ORPHA:97349
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Cerebral atrophy, Seizure, Myoclonus, Limb dystonia, Tremor, Gait ataxia, Caudate atr... ORPHA:363400
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Hypokinesia, Generalized hypotonia, Hypotonia, Sensorineural hearing impairment, A... OMIM:614707
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Paresthesi... ORPHA:85446
Supranuclear Palsy, Progressive, 1
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Tr... OMIM:601104
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity, Distal sensory impairment ORPHA:100998
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Optic atrophy, Ataxia, Global brain atrophy, Spasticity, Neurodegeneration, Akines... OMIM:234200
Fetal Akinesia Deformation Sequence
Akinesia, Posteriorly rotated ears, Hypokinesia, Dandy-Walker malformation ORPHA:994
Folinic Acid-Responsive Seizures
Ataxia, Optic atrophy, Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Gen... ORPHA:79097
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Inappropriate behavior, Cerebral atrophy, Abnormal... ORPHA:309246
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Pelizaeus-Merzbacher Disease
Mental deterioration, Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign... OMIM:312080
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, CNS hypomyelination, Peripheral axonal neuropathy, Ataxia OMIM:619688
Tangier Disease
Impaired pain sensation, Impaired temperature sensation, Peripheral demyelination, Facial diplegi... OMIM:205400
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Cerebellar atrophy, Inability to walk, Myoclonus, Irritability, Loss of ambulation... OMIM:618241
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Spasticity, Spastic tetraplegia, Seizure, Generalized h... OMIM:300438
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Secondary microcephaly, Obesity, Periventricular white matter hyper... OMIM:619737
Parkinson Disease 17
Akinesia, Resting tremor, Tremor, Rigidity OMIM:614203
Multiple Sulfatase Deficiency
Spasticity, Rapid neurologic deterioration, Cerebellar atrophy, Cerebral atrophy, Peripheral demy... OMIM:272200
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Seizure, Transient ischemic attack, Gait disturbance, Lacunar stroke, Hypertension OMIM:616779
Aceruloplasminemia
Blepharospasm, Congestive heart failure, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ab... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... OMIM:616688
Foxg1 Syndrome
Abnormal corpus callosum morphology, Difficulty walking, Inability to walk, Bruxism, Hypoplasia o... ORPHA:561854
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Abnormal peripheral action potential amplitude, Somatic sens... ORPHA:90117
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Cerebral cortical atrophy, Spasticity, Spastic paraparesis, Spastic... OMIM:238970
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Spastic paraparesis, Difficulty walking, Inability to walk, Facial diplegia, Dista... ORPHA:254930
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Impaired pain sensation, Ab... ORPHA:139578
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Optic atrophy, Spasticity, Involuntary movements, Cerebral atrophy, Difficu... ORPHA:442835
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Postu... OMIM:615491
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Hypokinesia, Cerebral atrophy, Generalized dystonia, Tip-toe gait... OMIM:617013
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia, Rigidity, Neuronal... OMIM:609454
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibration sensation ... OMIM:613640
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Neurodegeneration, Emotional lability, Motor axonal neuropathy,... OMIM:614298
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Bradykinesia, Abnormal posturing, H... ORPHA:225147
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Distal sensory impairment, Babinski sign, Lower l... ORPHA:320375
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Frontotemporal dementia, Axonal loss, Dystonia, Athetosis OMIM:300857
Arthrogryposis Multiplex Congenita 5
Prominent antihelix, Hand tremor, Generalized hypotonia, Akinesia, Hypertonia, Optic disc pallor,... OMIM:618947
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Optic atrophy, Spasticity, Chorioretinal coloboma, Seizure, Sensorineu... ORPHA:163937
Combined Oxidative Phosphorylation Deficiency 6
Generalized-onset seizure, Hypotonia, Hypokinesia, Seizure OMIM:300816
Manganese Poisoning
Akinesia, Postural tremor, Cogwheel rigidity, Gait disturbance, Hypertonia, Dystonia ORPHA:306682
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Generalized hypotonia, Inability to walk,... OMIM:614739
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Dystonia, Cerebral d... OMIM:252650
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Hearing impairment, Head tremor, Gait ataxia, Dysmetria, Peripheral axonal ne... ORPHA:98771
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Progressive sensorineural hearing impairment, Congestive heart failure, Arrhythmia, Bilateral ton... OMIM:540000
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Seizure, Neurodegeneration, Hypotonia, Agenesis of corpus callosum, Diffuse c... OMIM:214150
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Impai... OMIM:270685
Arachnoid Cyst
Depression, Memory impairment, Cranial nerve compression, Inability to walk, Tetraparesis, Parest... ORPHA:2356
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Failure to thrive, Agenesis of corpus callosum, Caudate atrophy, Dystonia, Choreoa... OMIM:618238
Gaucher Disease, Perinatal Lethal
Low-set ears, Hypokinesia, Seizure, Akinesia, Opisthotonus, Microtia OMIM:608013
Acute Transverse Myelitis
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Priapism, Dissociated sens... ORPHA:139417
Neurofibromatosis, Familial Spinal
Neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Paraparesis, Spi... OMIM:162210
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Generalized non-motor (absence) seizure, Cerebral atrophy, Cerebellar vermis ... OMIM:618170
Huntington Disease
Degeneration of the striatum, Hypokinesia, Seizure, Cerebral atrophy, Difficulty walking, Inabili... ORPHA:399
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Demyelinating periphera... ORPHA:504476
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Sensorineural hearing i... OMIM:617951
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Impaired pain sensation, Limb ataxia, Positive Romberg sign, Gait a... OMIM:614575
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Failure to thrive, Inability to walk, Chorea, Hypoplasia of the corpus... OMIM:617864
Alg11-Cdg
Hypokinesia, Seizure, Hearing impairment, Cerebral atrophy, Opisthotonus, Limb hypertonia, Hypert... ORPHA:280071
Severe X-Linked Mitochondrial Encephalomyopathy
Severe muscular hypotonia, Sensory axonal neuropathy, Hypokinesia, Generalized hypotonia ORPHA:238329
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia OMIM:168605
Glutaric Acidemia I
Failure to thrive, Lateral ventricle dilatation, Symmetrical progressive peripheral demyelination... OMIM:231670
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Torsade de pointes, Hypertrophic car... OMIM:616878
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Small for gestational age OMIM:616733
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Akinesia, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:225790
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Streak ovary, Abnormality of peripheral nerve conduction, Abnormal peripheral ... ORPHA:168563
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Inability to walk, Motor axonal neuropathy, Exaggerated... OMIM:609541
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Sensory axonal neuropathy, Distal sensory impairment, Decreased number of per... OMIM:256850
Spinocerebellar Ataxia 29
Diffuse cerebellar atrophy, Truncal titubation, Cerebellar vermis hypoplasia, Broad-based gait, D... OMIM:117360
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Hereditary Methemoglobinemia
Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Spasticity, Limb dystonia, C... ORPHA:621
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Akinesia OMIM:253290
Intermediate Nemaline Myopathy
Low-set ears, Hypokinesia, Difficulty walking, Facial diplegia, Severe muscular hypotonia, Facial... ORPHA:171433
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Optic atrophy, Decreased motor nerve conduction velocity, Impaired ... OMIM:164400
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Prune1-Related Neurological Syndrome
Tongue fasciculations, Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... ORPHA:544469
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Somatic s... OMIM:603472
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Febrile seizure (w... ORPHA:1349
Charcot-Marie-Tooth Disease And Deafness
Axonal loss, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:118300
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Positive Romberg sign, Tremo... OMIM:105210
Spinocerebellar Ataxia Type 13
Optic atrophy, Cerebellar atrophy, Hearing impairment, Seizure, Generalized hypotonia, Difficulty... ORPHA:98768
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Optic atrophy, Arm dystonia, Progressive sensorineural hearing impairment, Hearing impair... OMIM:601338
Morgagni-Stewart-Morel Syndrome
Cerebral cortical atrophy, Seizure, Vertigo, Action tremor, Hypertension, Brain atrophy ORPHA:77296
Hereditary Sensory And Autonomic Neuropathy Type 5
Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat... ORPHA:64752
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Cranial nerve c... ORPHA:94080
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Cerebellar atrophy, Lateral ventri... ORPHA:300573
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Hypoplasia of the corpus callosum, Delayed CNS myelination, Exaggerated startl... OMIM:620114
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Hypokinesia, Seizure, Generalized hypotonia, Cerebellar hypoplasia, Severe muscula... OMIM:615042
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Bradykinesia, Chorea, Emotional... OMIM:606159
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Global brain atrophy, Leukodystrophy, Sudanophilic leukodystrophy, Appendicu... OMIM:260600
Friedreich Ataxia
Impaired vibratory sensation, Optic atrophy, Decreased amplitude of sensory action potentials, Li... OMIM:229300
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypotonia, Sensorineural hearing impairment, Arrhythmia, Ataxia, Hypertension ORPHA:3222
Congenital Myopathy 9A
Akinesia, Neonatal hypotonia OMIM:618822
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:171680
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... ORPHA:250972
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Hypokinesia, Generalized dystonia, Generalized hypotonia, Postural tremor, Hyp... ORPHA:101150
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Dysdiadochokinesis, Seizure, Generalized hypotonia, Hypotonia, Sensorineural ... OMIM:612780
Sneddon Syndrome
Seizure, Vertigo, Tremor, Intracranial hemorrhage, Hypertension ORPHA:820
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Seizure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Gait disturba... ORPHA:136
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
Leukodystrophy, Hypomyelinating, 24
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Hypertension, Ce... OMIM:617763
Birk-Landau-Perez Syndrome
Optic atrophy, Progressive sensorineural hearing impairment, Difficulty walking, Limb ataxia, App... OMIM:617595
Molybdenum Cofactor Deficiency, Type B
Cerebral atrophy, Peripheral demyelination, Irritability, Diffuse cerebral atrophy, Opisthotonus,... OMIM:252160
Combined Oxidative Phosphorylation Deficiency 2
Low-set ears, Neonatal hypotonia, Hypokinesia, Agenesis of corpus callosum OMIM:610498
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Hypokinesia, Postural trem... OMIM:600116
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Cerebral atrophy, Neurodegeneration, Spastic tetraparesis, Hypotonia,... OMIM:272750
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Cerebral atrophy, Seizure, Neurodegeneration, Generalized dystonia, Infan... OMIM:618321
Preeclampsia/Eclampsia 1
Hypertension, Seizure OMIM:189800
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Dysmetria, Distal sensory impairme... OMIM:603516
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity OMIM:613724
Kanzaki Disease
Cerebral atrophy, Vertigo, Sensorineural hearing impairment, Axonal degeneration, Lacunar stroke,... OMIM:609242
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Cognitive impairment, Ataxia, Testicular atrophy, Infertility OMIM:613909
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Difficulty walking, Emotional labili... OMIM:275900
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Decreased motor nerve conduction velocity, Paresthesia, Peripheral axonal ne... ORPHA:298
Congenital Myopathy 12
Hypotonia, Akinesia, Neonatal hypotonia OMIM:612540
Poliomyelitis
Fasciculations, Inability to walk, Confusion, Paresthesia, Abnormal motor nerve conduction veloci... ORPHA:2912
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Agenesis of corpus callosum, Unsteady gait, Truncal ataxia, Dystonia, Int... ORPHA:453521
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Inability to walk, Partial agenesis of the corpus callosum, Opisthotonus, D... OMIM:619653
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, Hy... OMIM:617695
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Agenesis of corpus callosum OMIM:166990
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis ORPHA:319514
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Appendicular hypotonia, Hypokinesia, Axial hypotonia, Ataxia OMIM:620007
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Spastic paraplegia, Spasticity, Dysmetria, Babinski sign, Abnormal ... ORPHA:459056
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Di... ORPHA:101076
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Tongue fasciculations, Vocal cord paresis, Facial paralysis, Impaired pain sensati... ORPHA:99949
Lethal Congenital Contracture Syndrome 2
Akinesia, Dilated cardiomyopathy OMIM:607598
Joubert Syndrome 14
Low-set ears, Optic atrophy, Cerebellar vermis hypoplasia, Generalized hypotonia, Agenesis of cer... OMIM:614424
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Positive Romberg sign, Axonal degenerat... OMIM:601152
Methylcobalamin Deficiency Type Cble
Hearing impairment, Seizure, Hypotonia, Hypertension, Brain atrophy, Lower limb hypertonia ORPHA:2169
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment ORPHA:231183
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Cutaneous telangiectasia, Sensorineural hearing impairment... OMIM:615919
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic paraparesis, Spastic tetraplegia, Cerebral atrophy OMIM:618721
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Brain atrophy, Cerebral atrophy ORPHA:85179
Pelizaeus-Merzbacher Disease In Female Carriers
Mental deterioration, Spastic paraparesis, CNS hypomyelination, Hand apraxia, Difficulty walking,... ORPHA:280229
Peho Syndrome
Optic atrophy, Cerebellar atrophy, Polymicrogyria, Peripheral dysmyelination, Hypoplasia of the c... OMIM:260565
Coach Syndrome 1
Cerebellar vermis hypoplasia, Spasticity, Seizure, Aplasia/Hypoplasia of the cerebellar vermis, G... OMIM:216360
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Dysdiadochokinesis, Dysmetria, Ataxia OMIM:618356
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Paroxys... ORPHA:2524
Fetal Akinesia Syndrome, X-Linked
Hypokinesia, Agenesis of corpus callosum OMIM:300073
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Decreased amplitude of sensory action potentials, Trophic changes related to ... ORPHA:36386
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Polymicrogyria, Decreased body weight, Agenesis of corpus callosum, Dysplasti... OMIM:614833
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Secondary microcephaly, Gait ataxia, Tremor, Dysmetria, H... OMIM:618056
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Microcephaly, Failure to thrive, Exaggerated startle response OMIM:618201
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... ORPHA:1187
Waardenburg Syndrome, Type 4A
Aganglionic megacolon, Spastic paraparesis, Leukodystrophy, Ataxia OMIM:277580
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Ataxia ORPHA:1933
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigidity, Focal dystonia, D... ORPHA:240103
East Syndrome
Cerebellar atrophy, Polydipsia, Difficulty walking, Inability to walk, Action tremor, Peripheral ... ORPHA:199343
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Hypertension, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ta... OMIM:613870
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Resting tremor, Hypokinesia, Peripheral axonal neuropathy, Arrhythmia, Ataxia... ORPHA:254892
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Failure to thrive, Chorea, Focal T2 hyperintense basal ganglia lesion, Gait ataxia... ORPHA:255210
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Failure to thrive in infancy, Difficulty... ORPHA:488627
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Hypotonia, Seizure OMIM:620210
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Seizure, Cerebral atrophy, Neu... OMIM:610217
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Molybdenum Cofactor Deficiency, Type A
Cerebral atrophy, Peripheral demyelination, Opisthotonus, Myoclonic spasms, Axonal loss, Spastic ... OMIM:252150
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Impaired vibratory sensation, Decreased compound muscle action potential amplitude, Motor axonal ... OMIM:620528
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Spasticity, Spastic tetraplegia, Seizure, Neurodegeneration, Difficulty walking, A... OMIM:618476
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Unilateral Polymicrogyria
Epistaxis, Spastic tetraplegia, Focal impaired awareness seizure, Abnormal posturing, Giant somat... ORPHA:268943
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Spastic paraplegia, Second degree atrioventricular block, Focal myoclonic seizure, Sei... ORPHA:369929
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Lower limb spasti... ORPHA:280210
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Leukodystrophy, Neurodegeneration, Peripheral demyelination, Decreased body wei... OMIM:619475
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Gait atax... OMIM:616192
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Progressive psychomotor deterioration, Irritability, Loss of amb... ORPHA:3208
Sneddon Syndrome
Seizure, Ischemic stroke, Tremor, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Dysmetria, Agenesis of corpus callosum, Head titubation, Ataxia, Truncal ataxi... OMIM:250620
Pyruvate Dehydrogenase E2 Deficiency
Arm dystonia, Broad-based gait, Neurodegeneration, Difficulty walking, Paroxysmal dystonia, Frog-... ORPHA:79244
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinating pe... ORPHA:2821
Juvenile Paget Disease
Optic atrophy, Hypertension, Hearing impairment ORPHA:2801
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hypotonia, Pulmonary arterial hypertension, Abnormal posturing, Cerebral atrophy OMIM:614857
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Muscular Hypertonia, Lethal
Hypokinesia, Hypertonia OMIM:254120
Smith-Magenis Syndrome
Pain insensitivity, Abnormal nerve conduction velocity, Impaired pain sensation, EEG abnormality OMIM:182290
Choreoacanthocytosis
Resting tremor, Lateral ventricle dilatation, Limb dystonia, Hair-pulling, Loss of ambulation, Pe... ORPHA:2388
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Generalized dystonia, Spastic tetraparesis, Cerebral palsy, Spastic ataxia, Paraparesis, Dystonia OMIM:620358
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Depression, Spastic paraparesis, Myoclonus, Ataxia, Dementia OMIM:231000
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Oculogyric crisis, Hypokinesia, Seizure, Hypotonia, Tremor, Limb hypertonia, Dystonia