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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Onion bulb formation, Decreased sensory nerve conduction velocity, A... 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
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation OMIM:147530
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... OMIM:607734
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Symmetrical progressive peripheral demyelination, Progressive gai... ORPHA:208981
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Segmental peri... ORPHA:2932
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Hand paresthesia, Decreased motor... OMIM:162500
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Hypertrophic nerve changes, Impaired pain ... DECIPHER:29
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, CNS demyelination, Peripheral demyelination, Optic atrophy OMIM:165200
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Distal sensory impairment, Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Decreased number of large peripheral myelinated nerve fibers, Sensory a... OMIM:614895
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Decreased nerve conduction velocity, Decreased motor nerve con... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Distal sensory impairment, Onion bulb formation OMIM:615185
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination, Abnormal autonomic nervous system physiology DECIPHER:59
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... OMIM:607791
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Decreased ner... ORPHA:280234
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensation, Motor deterior... ORPHA:98765
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Subacute Inflammatory Demyelinating Polyneuropathy
Axonal loss, Abnormality of somatosensory evoked potentials, Abnormality of the autonomic nervous... ORPHA:206594
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Peripheral demyelinat... OMIM:617672
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... ORPHA:401840
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Onion bulb formation, Peripheral axonal neuropathy, Decreased ... OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:118210
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Incoordination, Cerebellar atrophy, Dysmetria, Hand tremor, Frequ... OMIM:302800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Axonal degener... OMIM:607677
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldings, Onion bulb formation, D... OMIM:118200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... OMIM:604484
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Dystonia, Dysmetria, ... OMIM:615157
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... OMIM:601382
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607731
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Impa... OMIM:618912
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher... OMIM:608340
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Impaired vibratory sensation, Impaired tactile sensation, Impaired pain... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Mental deterioration, Onion bulb formation, Steppage gait, Decreased number of periph... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:614228
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:609311
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Spastic Paraplegia 55, Autosomal Recessive
Cognitive impairment, Onion bulb formation, Spastic paraplegia, Steppage gait, Distal sensory imp... OMIM:615035
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Cognitive impairment, Dystonia, Choreoathetos... OMIM:208920
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation, Dysesthesia ORPHA:98916
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Babinski sign, Spastic ataxia, Optic atrophy OMIM:613672
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:605588
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor neuropathy OMIM:182815
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Chronic ax... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Sensory ataxia, Demyelinating peripheral neuropathy, Decreased sensor... ORPHA:101081
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity ORPHA:640
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:145900
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Fasciculations, Axonal degeneration, Steppage gait, Axonal degene... OMIM:614436
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Cognitive impairment, Dementia, Unsteady gait, Decreased number of peripheral myeli... ORPHA:2386
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting ... ORPHA:445062
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:607706
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Decreased number of large peripheral myelinated nerve fibers, Unsteady... ORPHA:497764
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Cerebral atrophy, Peripheral demyelination, Memory impairment, Caudate atrophy, Apra... OMIM:221770
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Hypogonadotropic hypogonadism, Cognitive impair... OMIM:604168
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Cerebral cortical atrophy, L... ORPHA:401820
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Onion bulb formation, Steppage gait, Difficulty walking OMIM:618279
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Peripheral demyelination, Mental deterioration, Decreased nerve conduction ... OMIM:249900
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Atrophy of the spinal cor... OMIM:602433
Adult Krabbe Disease
Erectile dysfunction, Hoffmann sign, Progressive spastic paraparesis, CNS demyelination, Somatic ... ORPHA:206448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Spasticity, Abnormal myelination, Babinski sign, Optic atr... ORPHA:431329
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Cognitive impairment, Dystonia, Choreoathetosis, Int... OMIM:608804
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Cerebral atrophy, Delayed myelination, Inability to walk, Tetraplegia OMIM:618331
Chorea, Benign Hereditary
Anxiety, Chorea, Gait disturbance OMIM:118700
Autosomal Recessive Spastic Paraplegia Type 5A
Atrophy of the spinal cord, Sensorineural hearing impairment, Spastic paraplegia, Lower limb spas... ORPHA:100986
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Action tremor, Orthostatic hypotension, Aplasia/Hypoplasia of the cor... ORPHA:99027
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Distal sen... OMIM:311070
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination, Dystonia, Ataxia, Difficulty walking OMIM:616684
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Global brain atrophy, Apraxia... ORPHA:275872
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Peripheral demyelination, Frequent falls, Abnorm... ORPHA:397946
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Spasticity, Neurodegeneration, Leukoencephalopathy, Periven... OMIM:615889
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Axonal degeneration/regeneration, Decreased number of peripheral mye... OMIM:600882
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbanc... ORPHA:99014
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Cavitating leukodystrophy, Ataxia OMIM:619061
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrea... OMIM:607831
Friedreich Ataxia
Sensory axonal neuropathy, Dysmetria, Dystonia, Cervical spinal cord atrophy, Intention tremor, I... ORPHA:95
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Leukodystrophy, Hypomyelinating, 13
Ataxia, Leukodystrophy, Spasticity, Clonus, Delayed myelination, Optic atrophy, Hypertonia OMIM:616881
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Atrophy of the spinal cord, Cerebellar atrophy, Generalized dysto... ORPHA:329308
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Resting tremor, Dystonia, Shuffling gait, Inability to walk, Akines... ORPHA:391411
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia, Microcephaly... OMIM:618276
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Gait ataxia, Distal sensory impairment, Positive Romberg sign, Optic at... OMIM:258650
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Sensory axonal neuropathy, Akinesia, Gait ataxia, Limb ataxia, G... ORPHA:98764
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Impaired vibratory sensation, Spastic paraparesis, Spasticity, Babinski sign, Poor ... ORPHA:320370
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased n... ORPHA:101082
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Atrophy of the spinal cord, Lower limb spasticity, Spastic paraplegia, Gait a... ORPHA:139480
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Cerebral ... ORPHA:401830
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia ORPHA:101075
Autosomal Dominant Spastic Paraplegia Type 9B
Atrophy of the spinal cord, Spastic gait, Focal dystonia, Spastic dysarthria, Peripheral axonal n... ORPHA:447757
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Paraparesis, Spasticity, Progressive spasticity, My... ORPHA:726
Spastic Paraparesis-Deafness Syndrome
Impaired pain sensation, Spastic paraparesis, Ataxia, Gait disturbance, Hemiplegia/hemiparesis ORPHA:2815
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... OMIM:252320
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraparesis, Spastic paraplegia OMIM:182610
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... ORPHA:90103
Early-Onset X-Linked Optic Atrophy
Choreoathetosis, Decreased nerve conduction velocity, Gait ataxia, Optic disc pallor, Dysdiadocho... ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal sensory impairment, Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Spinocerebellar Ataxia 38
Cerebellar atrophy, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Limb ataxia OMIM:615957
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atrophy of the spinal cord, Abnormality of peripheral somatosensory evoked potentials, Microcepha... ORPHA:466768
Autosomal Dominant Cerebellar Ataxia
Cognitive impairment, Dystonia, Action tremor, Progressive cerebellar ataxia, Paraparesis, CNS de... ORPHA:99
Superficial Siderosis
Atrophy/Degeneration affecting the brainstem, Abnormal corpus callosum morphology, Atrophy of the... ORPHA:247245
Spinocerebellar Ataxia 25
Cerebellar atrophy, Abolished vibration sense, Impaired pain sensation, Ataxia, Decreased number ... OMIM:608703
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Impaired vibratory sensation ORPHA:139536
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity OMIM:183050
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Spast... ORPHA:35689
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Resting tremor, Shuffling gait, Intention tremor, Cerebellar c... ORPHA:247234
Krabbe Disease
Decerebrate rigidity, Peripheral demyelination, Motor deterioration, Decreased nerve conduction v... OMIM:245200
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:613287
Mast Syndrome
Apraxia, Spastic paraparesis, Spastic paraplegia, Gait disturbance, Babinski sign OMIM:248900
Spinocerebellar Ataxia Type 25
Impaired distal tactile sensation, Decreased number of large peripheral myelinated nerve fibers, ... ORPHA:101111
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Spastic tetraparesis, Sensorineural hearing impairment, Microcephaly, Seizure... OMIM:618741
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Neuronal loss in central nervous system, Somatic sensory dysfunction, Peripheral demy... ORPHA:71211
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Cervical spinal cord atrophy, Sensorineural hearing impairment, Head tremor, Optic n... ORPHA:101085
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Decreased nerve conduction velocity, Steppage gait OMIM:302802
Lissencephaly Type Iii And Bone Dysplasia
Central nervous system degeneration, Agenesis of corpus callosum, Akinesia, Agenesis of cerebella... OMIM:601160
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal sensory impairment, Impaired vibration sensation in the lower limbs, Decreased nerve condu... ORPHA:352675
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity OMIM:608895
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... OMIM:607483
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Decreased nerve conduction velocity, Demyelinating motor neuropathy,... ORPHA:99939
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination, Ataxia OMIM:200100
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Atrophy of the spinal cord, Spastic gait, Decreased amplitude of sensory action potentials, Spast... OMIM:256840
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Autonomic bladder dysfunction, Ataxia, Leukodystrophy, Impote... OMIM:169500
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Spastic paraparesis, Palatal myoclonus, Cerebral cortical atrophy, Tr... OMIM:113610
Richards-Rundle Syndrome
Sensorineural hearing impairment, Atrophy of the spinal cord, Ataxia, Hearing impairment OMIM:245100
Metachromatic Leukodystrophy
Peripheral demyelination, Dystonia, Spastic tetraplegia, Mental deterioration, Ataxia, Decreased ... OMIM:250100
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Neurodegeneration, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Mental deter... OMIM:615643
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic paraplegia, Ataxia, Aggressiv... OMIM:606693
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration, Steppage gait, Gait disturbance OMIM:616155
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Optic atrophy, Spastic paraparesis, Generalized myoclonic seizure, Lo... ORPHA:395
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Orthostatic hypotension, Abnormal substantia nigra morphology, Hyperi... ORPHA:2822
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Demyelinating peripheral neu... ORPHA:101077
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Neurodegeneration, O... OMIM:610951
Gordon Holmes Syndrome
Cerebral atrophy, Cerebellar atrophy, Hypogonadotropic hypogonadism, Infertility, Dementia, Ataxi... OMIM:212840
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Inability to walk, Axonal degeneration, Decreased number of peripheral myel... OMIM:615490
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Tremor ORPHA:98773
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity, Seizure, Abnormal cerebr... OMIM:618138
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Progressive microcephaly, Microcephaly, Rigidity, Spasticity, Hypokinesia, Hypo... OMIM:616211
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration, Low-set ears OMIM:162100
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Impaired distal tactile sensation, Decreased number of large periphera... ORPHA:99948
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic tetraparesis, Peripheral axonal neuropathy, Progressive spastic parap... ORPHA:496756
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... OMIM:619565
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Irritability, Spasticity, Delayed myelination, Difficulty walking OMIM:617393
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Sensorineural... OMIM:616192
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Vestibular dysfunction, Dilated cardiomyopathy, Atrophy/Degeneration involving the spinal cord, A... ORPHA:70595
Spinocerebellar Ataxia 21
Cerebellar atrophy, Dystonia, Intention tremor, Ataxia, Akinesia, Cogwheel rigidity, Progressive ... OMIM:607454
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1368
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Abnormal autonomic nervous sys... ORPHA:97229
Autosomal Recessive Spastic Paraplegia Type 35
Spastic tetraparesis, Cognitive impairment, Spastic paraplegia, Ankle clonus, Cerebellar atrophy,... ORPHA:171629
Mitochondrial Complex I Deficiency, Nuclear Type 15
Peripheral demyelination, Dystonia, Spastic tetraplegia, Irritability, Optic atrophy OMIM:618237
Diaminopentanuria
Spasticity, Seizure, Ataxia, Neurodegeneration OMIM:222350
Spastic Paraplegia-Nephritis-Deafness Syndrome
Sensorineural hearing impairment, Spasticity, Hypertension, Gait disturbance ORPHA:2820
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Hypoplasia of the corpus callos... OMIM:612319
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic par... OMIM:300894
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Ataxia, Axonal degeneration, Abnormality of periphera... ORPHA:88628
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... OMIM:608720
Periventricular Nodular Heterotopia 8
Delayed myelination, Spasticity OMIM:618185
Spinocerebellar Ataxia 31
Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia OMIM:117210
Spastic Paraplegia 2, X-Linked
Spastic gait, Dysmetria, Spastic paraparesis, Lower limb spasticity, Spastic paraplegia, Degenera... OMIM:312920
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Impaired proprioception, Sensory ataxia, Impaired vibration sensation i... OMIM:609033
Primary Angiitis Of The Central Nervous System
Tetraparesis, Cognitive impairment, Paralysis, Parkinsonism, Ataxia, Transient global amnesia, Pa... ORPHA:140989
Hereditary Motor And Sensory Neuropathy V
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:600361
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Spastic gait, Dysmetria, Lower limb spasticity, Spastic paraplegia, Ataxia, P... OMIM:610357
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment OMIM:606595
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Microcephaly, Gait ataxia, Telangiectasia of the skin, Neurodegeneration, Ret... ORPHA:438134
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Trigeminal Neuralgia
Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, Cranial nerve compression, Al... ORPHA:221091
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Hypertonia, Sensorineural hearing impairment, Cerebral cortical... ORPHA:1192
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... OMIM:619519
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy of the spinal cord, Adrenocortic... ORPHA:139399
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Impaired distal tactile sensation, Decreased number of large periphera... OMIM:162400
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degeneration, Microc... OMIM:616811
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Frequent falls, Spastic paraparesis, Progressive cerebellar ataxia, Lower limb hypertonia, Myoclo... ORPHA:254343
Adrenoleukodystrophy
Incoordination, Dementia, Hypogonadism, Mental deterioration, Spastic paraplegia, Paraparesis, Tr... OMIM:300100
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Atrophy of the spinal cord, Diffuse axonal swelling, Abnormality of the basal ganglia, Cerebellar... ORPHA:86822
Spinocerebellar Ataxia Type 37
Cerebellar vermis atrophy, Sensorineural hearing impairment, Gait disturbance, Cogwheel rigidity,... ORPHA:363710
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Mental deterioration, Impaired vibration sensation in the lower limbs, Ataxia, Decr... OMIM:604360
Aminoacylase 1 Deficiency
Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Generalized hypotonia, Hy... OMIM:609924
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Cognitive impairment, Cerebellar atrophy, Abnormal sperm morphology, Spastic dysarth... ORPHA:320391
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... OMIM:619279
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Cerebral calcification, Spastic tetraplegia, Sensorineural hearing impairment, Akinesia, Microcep... OMIM:619147
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance ORPHA:67047
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:444099
Spastic Paraplegia 84, Autosomal Recessive
Cervical spinal cord atrophy, Spastic paraplegia, Tip-toe gait, Difficulty walking, Hypertonia OMIM:619621
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Spastic gait, Cerebellar vermis atrophy, Falls, Decreased number of large peripheral m... OMIM:270550
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Resting tremor, Abnormal autonomic nervous system physiology, Limb dysto... OMIM:616840
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Roussy-Lévy Syndrome
Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensation, Gait ataxia, ... ORPHA:3115
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Dysmetria, Abnormal motor nerve conduction velocity, Decreas... OMIM:618404
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Demyelinating motor neuropathy, Upper motor neuron dysfunction, T... ORPHA:506353
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Abnormal muscle tone, Global brain atrophy, Optic neuropathy, Axonal degenerati... ORPHA:478029
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Decreased nerve conduction vel... OMIM:256600
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Intention tremor, Ataxia, Abnormal cerebellu... ORPHA:98762
Galloway-Mowat Syndrome 5
Spasticity, Peripheral demyelination, Ataxia, Brain atrophy OMIM:617731
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Intention tremor, Lower limb spasticity, ... OMIM:616948
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Impaired distal tactile sensation, Decreased distal sensory nerve action potential, Peripheral ax... OMIM:618400
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Spasticity, Ataxia OMIM:617854
Peroxisome Biogenesis Disorder 8B
Cognitive impairment, Dysmetria, Cerebellar vermis atrophy, Spastic paraparesis, Ataxia, Leukodys... OMIM:614877
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Dysdiadochokinesis, Symmetric lesions of the basal ganglia, Rigidit... OMIM:609161
Late-Infantile/Juvenile Krabbe Disease
Tremor, Frequent falls, Upper motor neuron dysfunction, Prolonged brainstem auditory evoked poten... ORPHA:206443
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Dystonia, Sensorineural hearing impairment, Inability to walk, Generalized myoc... OMIM:616756
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Hypertonia, Global brain atrophy, Sensorineural hearing impairment, Olivopontoc... OMIM:278800
Leukodystrophy, Hypomyelinating, 5
Intention tremor, Loss of ability to walk, Inability to walk, Onion bulb formation, Leukodystroph... OMIM:610532
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Irritability, Clonus, Chorea, Delayed ... OMIM:613811
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Atrophy of the spinal cord, Dilated cardiomyopathy, Peripheral demyelination, L... ORPHA:79282
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Decreased number... ORPHA:320406
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ataxia, Telangiectases producing 'marbled' skin, Hypertension, Seizure, Brain atrophy, Broad-base... OMIM:206570
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1188
Ataxia-Pancytopenia Syndrome
Dysmetria, Ataxia, Impaired vibration sensation in the lower limbs, Decreased nerve conduction ve... OMIM:159550
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Tremor ORPHA:99965
Digital Extensor Muscle Aplasia-Polyneuropathy
Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:2926
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic par... ORPHA:329284
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity ORPHA:276435
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Abolished vibration sense, Impaired tactile sensation, Impaired pain sensation, Impaired vibratio... ORPHA:435387
Autosomal Dominant Spastic Paraplegia Type 17
Distal sensory impairment, Abnormal motor nerve conduction velocity ORPHA:100998
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spastic dysarthria, Head tremor, Conjunctival telangiectasia, Spinocerebel... ORPHA:95433
Dpagt1-Cdg
Global brain atrophy, Cerebellar hypoplasia, Microcephaly, Epileptic spasm, Intracranial hemorrha... ORPHA:86309
Opticocochleodentate Degeneration
Spastic tetraplegia, Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Developmental And Epileptic Encephalopathy 91
Cerebral atrophy, Delayed myelination, Spasticity, Unsteady gait OMIM:617711
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, EEG abnormality, Abnormal peripheral action potential amplitude, Decre... ORPHA:457205
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Spastic dysarthria, Spastic paraparesis, Demyelinating peripheral ... ORPHA:313772
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Facial palsy,... OMIM:616239
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Global brain atrophy, Spastic paraparesis, Sudanophilic leukodystrophy, ... OMIM:260600
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Cognitive impairment, Memory impa... ORPHA:157941
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Severe sensorineural hearing impairment, Cerebellar dysplasia, Cerebe... OMIM:604213
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired pain sensation, Impaired vibration sensation in the lower limbs, Hand paresthesia, Decre... OMIM:613640
X-Linked Adrenoleukodystrophy
Incoordination, Cognitive impairment, Somatic sensory dysfunction, Paralysis, Progressive spastic... ORPHA:43
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Infertility, Upper limb spasticity, Dementia,... OMIM:614409
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Seizure, Ataxia ORPHA:3233
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Falls, Axonal degeneration OMIM:618811
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Vestibular dysfunction, Sensory axonal neuropathy, Dysmetria, Dilated cardiomyopathy, Sensorineur... OMIM:607459
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Neuronal loss in central nervous syst... OMIM:614959
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Decreased amplitude of sensory action potentials, Demyelinating peri... ORPHA:99950
Developmental And Epileptic Encephalopathy 58
Delayed myelination, Inability to walk, Optic atrophy, Spastic diplegia OMIM:617830
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, Ataxia, Failure to thrive, CNS demyelination, Tremor OMIM:220111
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Amyotrophy, Monomelic
Cervical spinal cord atrophy OMIM:602440
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Caudate atrophy, Dystonia... ORPHA:52368
Spastic Paraplegia 79, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremor, Spastic par... OMIM:615491
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Cerebral cortical atrophy, Abn... ORPHA:231169
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Cognitive impairment, Abnormal pyramidal sign, CNS hypomyelination, Limb dyst... OMIM:617560
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Intention tremor, Ataxia, Leukodystrophy, Spasticity, Abnormality of extrapyramidal mo... OMIM:616140
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Distal sensory impairment, Onion bulb formation OMIM:614455
Corticobasal Syndrome
Dystonia, Akinesia, Limb dystonia, Limb myoclonus, Progressive extrapyramidal muscular rigidity, ... ORPHA:454887
Spinocerebellar Ataxia 10
Dysmetria, Decreased nerve conduction velocity, Progressive cerebellar ataxia, Gait ataxia, Dysdi... OMIM:603516
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, Somatic... ORPHA:90117
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Parkinsonism, Spastic paraparesis, Peripheral axonal neuropathy, Difficulty... ORPHA:397725
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Dystonia, Hemiparesis, Delayed myelination, Abnormality of extrapyramidal motor... OMIM:615338
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Cognitive impairment, Spastic dysarthria, Spastic paraparesis, Cor... OMIM:616680
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:118300
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Akinesia, Microcephaly, Dand... OMIM:225790
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Abnormal pyramidal sign, Spastic paraplegia, Steppage gait, Decreased ... OMIM:256850
Tangier Disease
Peripheral demyelination, Impaired pain sensation, Impaired temperature sensation, Peripheral axo... OMIM:205400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased nerve conduction velocity, Decreased sensory nerve co... OMIM:201300
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Spastic dysarthria, Blepharospasm, Loss of abilit... ORPHA:240094
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Combined Oxidative Phosphorylation Deficiency 1
Basal ganglia cysts, Global brain atrophy, Microcephaly, Spasticity, Hypokinesia, Hypoplasia of t... OMIM:609060
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Dysmetria, Ataxia, Decreased nerve conduction velocity, Distal sensory impairment, Optic atrophy OMIM:612674
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Ataxia, Paraparesis, Optic atrophy ORPHA:27
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Cerebral atrophy, Peripheral demyelination, Spastic tetraplegia, Dysmyel... OMIM:609136
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Sensorineural hearing impairment, Hypertrophic cardiomyopat... ORPHA:225
Epidermal Nevus Syndrome
Atrophy of the spinal cord, Spinal cord compression, Spinal cord tumor, Progressive spastic parap... ORPHA:35125
Chédiak-Higashi Syndrome
Atrophy of the spinal cord, Cerebellar atrophy, Inability to walk, Spastic paraplegia, Ataxia, De... ORPHA:167
Wild Type Abeta2M Amyloidosis
Axonal loss, Decreased amplitude of sensory action potentials, Decreased nerve conduction velocit... ORPHA:85446
Postencephalitic Parkinsonism
Resting tremor, Abnormal substantia nigra morphology, Oculogyric crisis, Diminished movement, Aki... ORPHA:97349
Hereditary Late-Onset Parkinson Disease
Dystonia, Resting tremor, Shuffling gait, Akinesia, Lewy bodies, Rigidity, Cerebral cortical atro... ORPHA:411602
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Dysmetria, Impaired proprioception, Abnormal nerv... ORPHA:98755
Hsd10 Disease, Infantile Type
Cerebral atrophy, Spastic tetraparesis, Abnormality of the basal ganglia, Dystonia, Loss of abili... ORPHA:391428
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Mitochondrial Membrane Protein-Associated Neurodegeneration
Hand tremor, Dystonia, Frequent falls, Shuffling gait, Parkinsonism, Spastic paraparesis, Bradyki... ORPHA:289560
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Impaired pain sensation, Sensory axonal neuropathy, Ab... ORPHA:139578
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Degeneration of anterior horn cells, A... OMIM:604320
Intracranial Hypertension, Idiopathic
Hypertension, Papilledema OMIM:243200
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers, Impaired temperature sensation, Pai... ORPHA:64752
Cerebrotendinous Xanthomatosis
Cognitive impairment, Dystonia, Global brain atrophy, Aggressive behavior, Paraparesis, CNS demye... ORPHA:909
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Facial palsy, Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelin... OMIM:601170
Combined Oxidative Phosphorylation Deficiency 6
Abnormality of the basal ganglia, Generalized hypotonia, Hypokinesia, Hypotonia, Seizure OMIM:300816
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, D... ORPHA:363654
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Spastic gait, Dysmetria, Upper limb spasticity, Spastic paraparesis, Spastic ... OMIM:275900
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Caudate atrophy, Ataxia, Limb dystonia, Gait ataxia, Hypertension, Myoclonus, S... ORPHA:363400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, High-frequency sensorineural hearing im... ORPHA:2590
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Dystonia, Delayed peripheral myelination, Obesity, Cerebral white matter atroph... ORPHA:464282
Brown-Vialetto-Van Laere Syndrome 2
Sensorineural hearing impairment, Ataxia, Generalized hypotonia, Hypokinesia, Hypotonia, Facial p... OMIM:614707
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Aceruloplasminemia
Dystonia, Congestive heart failure, Blepharospasm, Craniofacial dystonia, Ataxia, Akinesia, Gait ... ORPHA:48818
Pelizaeus-Merzbacher Disease
Cognitive impairment, Dystonia, Cerebellar vermis atrophy, Global brain atrophy, Spastic parapleg... OMIM:312080
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Frontotemporal cerebral... ORPHA:391417
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Decreased sensory... OMIM:603472
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Photosensitive myoclonic seizure, Cochlear degeneration, Ataxia, Progressive sensorineural hearin... OMIM:172500
Mohr-Tranebjaerg Syndrome
Dystonia, Progressive sensorineural hearing impairment, Spasticity, Postlingual sensorineural hea... OMIM:304700
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Axial dystonia, Akinesia, Limb dystonia, Gait imbalance, Rigidity, Neuro... OMIM:601104
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dystonia, Spastic paraparesis, Ataxia, Spast... OMIM:614487
Classic Pantothenate Kinase-Associated Neurodegeneration
Cognitive impairment, Opisthotonus, Frequent falls, Generalized dystonia, Inability to walk, Gait... ORPHA:216866
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Spastic tetraparesis, Dystonia, Atonic seizure, Sensorineural hearing impairm... ORPHA:79097
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Cerebellar atrophy, Dystonia, Sensorineural hearing impairment, Microcephaly, S... OMIM:300475
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Cognitive impairment, Dysto... ORPHA:280219
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Ataxia, Peripheral axonal neuropathy, Spastic paraplegia, CNS hypomyelination OMIM:619688
Neuropathy, Hereditary Sensory, Type Ie
Cerebral atrophy, Memory impairment, Dementia, Decreased number of peripheral myelinated nerve fi... OMIM:614116
Parkinson Disease 17
Akinesia, Rigidity, Resting tremor, Tremor OMIM:614203
Fetal Akinesia Deformation Sequence
Akinesia, Hypokinesia, Posteriorly rotated ears, Dandy-Walker malformation ORPHA:994
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Progressive microcephaly, Sensorineural hearing impairment, Athetosis, Ataxia... OMIM:614559
Arthrogryposis Multiplex Congenita 5
Hand tremor, Dystonia, Prominent antihelix, Cardiac arrest, Akinesia, Microcephaly, Generalized h... OMIM:618947
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, CNS hypomyelination, Ataxia, Leukodystrophy, Spasticity, Myoclonus, Tremor OMIM:616494
Cednik Syndrome
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysmetria, Ataxia, Decreased nerve conduction velocity, Dysdiadochokinesis OMIM:618356
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Axial dystonia, Akinesia, Gait imbalance, Rigidity, Neuronal loss in bas... OMIM:609454
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Eye of the tiger anomaly of globus pallidus, Global brain atrophy, Blepharospasm, Ataxi... OMIM:234200
Manganese Poisoning
Dystonia, Abnormal globus pallidus morphology, Akinesia, Cogwheel rigidity, Gait disturbance, Pos... ORPHA:306682
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Ataxia, Paresthesia, Abnormality of peripheral nerve conduction, Motor axonal neuropathy ORPHA:48431
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... OMIM:616204
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Ataxia, Rapid neurologic deterior... OMIM:272200
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Inability to walk, Microcephaly, Simplified gyral ... OMIM:618492
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ataxia, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia ... OMIM:611603
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity OMIM:605726
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Gait ataxia, Rigidity, Hypokinesia, Myoclonus, Tremor OMIM:605407
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Onion bulb formation, Decreased sensory nerve conduction velocity, A... OMIM:218000
Hypermanganesemia With Dystonia 2
Cerebral atrophy, Cerebellar atrophy, Dystonia, Opisthotonus, Generalized dystonia, Oromandibular... OMIM:617013
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Dystonia, Optic atrophy, Sensorineural hearing impairment, Inability to walk,... OMIM:614739
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Dysmetria, Intention tremor, Ataxia, Leukodystrophy, Delayed CNS myelination, Head titubation, Ba... OMIM:618688
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Cognitive impairment, Spastic paraparesis, Inability to walk, Ataxia, De... ORPHA:254930
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebellar atrophy, Cerebral dysmyelination, Dystonia, Microcephaly, ... OMIM:252650
Spinocerebellar Ataxia 1
Dysmetria, Impaired proprioception, Impaired vibratory sensation, Impaired distal tactile sensati... OMIM:164400
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Cerebral atrophy, Cerebellar atrophy, Dystonia, Involuntary movements, Inability to walk, Ataxia,... OMIM:617804
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Low-set ears, Dilated fourth ventricle, Cerebellar hypoplasia, Sensorineura... OMIM:617751
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cerebellar hypoplasia, Sensorineural hearing impairment, Optic nerve hypo... ORPHA:163937
Gaucher Disease, Perinatal Lethal
Opisthotonus, Low-set ears, Microtia, Akinesia, Microcephaly, Hypokinesia, Seizure OMIM:608013
Autosomal Recessive Spastic Paraplegia Type 55
Cognitive impairment, Optic neuropathy, Spastic paraparesis, Onion bulb formation, Lower limb spa... ORPHA:320375
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Hyperactivity, Microcephaly, Failure to thrive, Op... OMIM:274270
Spinocerebellar Ataxia, X-Linked 3
Cerebellar atrophy, Dysmetria, Intention tremor, Sensorineural hearing impairment, Hypotonia, Gen... OMIM:301790
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:607684
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral edema, Cerebral atrophy, Dystonia, Hearing impairment, Ataxia, Cardiomyopathy, Neurodege... OMIM:618321
Dopa-Responsive Dystonia
Dystonia, Panic attack, Abnormality of extrapyramidal motor function, Tremor, Upper motor neuron ... ORPHA:255
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis... OMIM:618170
Alg11-Cdg
Cerebral atrophy, Opisthotonus, Hearing impairment, Cerebral white matter atrophy, Ataxia, Limb h... ORPHA:280071
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Wolff-Parkinson-White s... OMIM:540000
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Partial agenesis of the c... ORPHA:85179
Acute Transverse Myelitis
Priapism, Somatic sensory dysfunction, Orthostatic hypotension, Impaired proprioception, Impaired... ORPHA:139417
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Ataxia, Generalized hypo... OMIM:618476
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dysmetria, Dystonia, Wolff-Parkinson-White syndrome, Sensorineural hearing impairment, Arm dyston... OMIM:601338
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysmetria, Intention tremor, Demyelinating peripheral neuropathy, Gait ataxia, Progressive cerebe... ORPHA:504476
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Neurofibromas, Spinal neurofib... OMIM:162210
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abnormal cerebral white matter morphology, Seizure, Multifocal hyperintensity of cerebral white m... ORPHA:136
Arachnoid Cyst
Tetraparesis, Memory impairment, Inability to walk, Paresthesia, Paraparesis, Irritability, Socia... ORPHA:2356
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Cerebellar atrophy, Inability to walk, Optic atrophy OMIM:618324
Congenital Disorder Of Glycosylation, Type Iu
Cerebellar hypoplasia, Cerebral white matter atrophy, Generalized hypotonia, Hypokinesia, Seconda... OMIM:615042
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Blepharospasm, Akinesia, Progressive extrapyramidal muscular rigidity, ... ORPHA:240071
Huntington Disease
Cerebral atrophy, Caudate atrophy, Degeneration of the striatum, Dystonia, Inability to walk, Sei... ORPHA:399
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Steppage gait, Abnormality of peripheral nerves, Abnormal periph... ORPHA:168563
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Ventricular fibrillation, Dystonia, Torsade de pointes, Cardiac arrest, Ventric... OMIM:616878
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Cerebellar atrophy, Dystonia, Intention tremor, Sensorineural hearing impairmen... OMIM:617951
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Low-set ears OMIM:253290
Hsd10 Mitochondrial Disease
Spastic tetraplegia, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Generalized h... OMIM:300438
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Agenesis of corpus callosum, Basal ganglia cysts, Small for gestation... OMIM:312170
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia, Unsteady gait, Generaliz... OMIM:614867
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Head tremor, Gait ataxia, Peripheral axonal neuropathy, Titubation... ORPHA:98771
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Parkinsonism, Cerebellar a... ORPHA:98759
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Involuntary movements, Mental deterioration, Ataxia, Limb hypertonia, Unsteady ... ORPHA:442835
Glutaric Acidemia I
Opisthotonus, Dystonia, Choreoathetosis, Symmetrical progressive peripheral demyelination, Rigidi... OMIM:231670
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Generalized hypotonia, Hypokinesia, Severe muscular hypotonia, Abnorma... ORPHA:238329
Perry Syndrome
Short stepped shuffling gait, Dystonia, Akinesia, Rigidity, Tremor OMIM:168605
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Degeneration of anterior horn cells, Decreased nerve conduc... OMIM:118301
Intermediate Nemaline Myopathy
Low-set ears, Hypokinesia, Severe muscular hypotonia, Facial palsy, Facial diplegia, Difficulty w... ORPHA:171433
Kanzaki Disease
Cerebral atrophy, Telangiectasia of the oral mucosa, Sensorineural hearing impairment, Axonal deg... OMIM:609242
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypertension, Cerebral cortical atrophy, Seizure, Brain atrophy, Vertigo ORPHA:77296
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Agenesis of corpus callosum, Choreoathetosis, Inability ... OMIM:617988
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Sensorineural hearing impairment, Ataxia, Hypertension, Cardiomyopathy, Hypotonia ORPHA:3222
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Dementia, Subcortical dementia, Bradykine... OMIM:606159
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum, Dystonia, Choreoathetosis, Failure to thrive, Optic... OMIM:618238
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Neonatal hypotonia, Akinesia OMIM:618822
Non-Functioning Paraganglioma
Paraganglioma, Pulsatile tinnitus, Sinus tachycardia, Congestive heart failure, Conductive hearin... ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 2
Hypokinesia, Neonatal hypotonia, Agenesis of corpus callosum, Low-set ears OMIM:610498
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Spinocerebellar Ataxia 32
Cerebellar atrophy, Cognitive impairment, Infertility, Azoospermia, Ataxia, Testicular atrophy OMIM:613909
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Inability to walk, Optic disc pallor, Exaggerated startle response, Op... OMIM:609541
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progressiv... ORPHA:225147
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Opisthotonus, Dystonia, Generalized dystonia, Choreoathetosis, Inability to walk, Partial agenesi... OMIM:619653
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Seizure, Gait ataxia, Generalized hypotonia, Optic disc pallor, Myoclonus, To... ORPHA:98768
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dystonia, Parkinsonism, Neurodegenera... OMIM:614298
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment, Hypertrophic ... ORPHA:1349
Preeclampsia/Eclampsia 1
Hypertension, Seizure OMIM:189800
Poliomyelitis
Paralysis, Abnormal motor nerve conduction velocity, Fasciculations, Inability to walk, Paresthes... ORPHA:2912
Sneddon Syndrome
Seizure, Hypertension, Intracranial hemorrhage, Vertigo, Tremor ORPHA:820
Friedreich Ataxia
Impaired proprioception, Impaired vibratory sensation, Decreased amplitude of sensory action pote... OMIM:229300
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Po... ORPHA:250972
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Opisthotonus, Anxiety, Ataxia, Emotional lability, Paraparesis, Spas... ORPHA:1136
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed myelination, Spasticity, Involuntary movements, Ataxia OMIM:615905
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Focal dystonia, Oculogyric crisis, Ataxia, Limb dystonia, Gait ataxia, Gene... ORPHA:101150
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Dystonia, Agenesis of corpus callosum, Intention tremor, Unsteady gait, Gait ataxia, N... ORPHA:453521
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Dystonia, Athetosis, Frontotemporal dementia, Amyotrophic lateral sclerosis OMIM:300857
Myopathy, Congenital, Compton-North
Neonatal hypotonia, Akinesia OMIM:612540
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Dystonia, Athetosis, Chorea, Delayed myelination OMIM:615473
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Cerebellar atrophy, Decreased body weight, Agenesis of corpus callosu... OMIM:614833
Foxg1 Syndrome
Abnormal corpus callosum morphology, Decreased body weight, Dystonia, Progressive microcephaly, A... ORPHA:561854
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Dystonia, Failure to thrive, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Yuan-Harel-Lupski Syndrome
Gait ataxia, Distal sensory impairment, Demyelinating peripheral neuropathy, Decreased nerve cond... OMIM:616652
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Dysmetria, Abnormal left ventricular function, Arrhythmia, Sensorineural hear... OMIM:618098
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Cerebellar atrophy, Fasciculations, Lo... OMIM:618598
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Optic neuropathy, Spastic paraparesis, Steppage gait, Clasp-knife sign, Decreased mo... ORPHA:101076
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Agenesis of corpus callosum OMIM:166990
Methylcobalamin Deficiency Type Cble
Abnormal cerebral white matter morphology, Microcephaly, Lower limb hypertonia, Hypertension, Hyp... ORPHA:2169
Joubert Syndrome 14
Low-set ears, Ataxia, Dandy-Walker malformation, Coloboma, Generalized hypotonia, Hypertension, P... OMIM:614424
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Sensorineural hearing impairment, Abnormal autonomic nervous system physiolog... ORPHA:466934
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Painless fractures due to injury, Ataxia, Decreased number of peripheral myelinated ner... OMIM:256810
Hereditary Sensory And Autonomic Neuropathy Type 1
Trophic changes related to pain, Abnormality of the autonomic nervous system, Impaired distal tac... ORPHA:36386
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Dystonia, Neurodegeneration, Infantile axial hypotonia, Exaggerated startle res... ORPHA:309246
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Cerebral atrophy, Opisthotonus, Peripheral demyelination, Myoclonic spasms, Spastic ... OMIM:252160
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Neurofibrillary tangles, Dystonia, Dysmetria, Dysdiadochoki... OMIM:610217
Unilateral Polymicrogyria
Epistaxis, Spastic tetraplegia, Perisylvian polymicrogyria, Status epilepticus, Focal-onset seizu... ORPHA:268943
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Decreased number of large peripheral myelinated nerve fibers, Demy... ORPHA:298
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Spasticity, Delayed myelination, Babinski sign ORPHA:397951
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Conductive hearing impairment, Sensorineural hearing impairment, Anterior hyp... ORPHA:1435
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Dystonia, Neurodegeneration, Hypotonia, Generalized hypot... OMIM:272750
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Akinesia OMIM:607598
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, EEG with focal epileptiform discharges, Ataxia, S... ORPHA:1187
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Choreoathetosis, Decreased nerve conduction velocity ORPHA:319514
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Intention tremor, Sensorineural hearing impairment, Ataxia, Generalized hypot... OMIM:614871
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Hyperactivity, Microcephaly, Failure to thrive, Delayed myelination,... OMIM:615286
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Cerebellar atrophy, Dystonia, Athetosis, Irritability, Spasticity, Delayed myel... OMIM:617132
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Optic disc pallor, D... OMIM:601152
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Rigidity, Clonus, Neuronal loss in central nervous system, Delayed myelination,... OMIM:614498
Waardenburg Syndrome, Type 4A
Leukodystrophy, Spastic paraparesis, Aganglionic megacolon, Ataxia OMIM:277580
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Decreased nerve conduction velocity ORPHA:1933
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Spasticity, Delayed myelination, Hyper... OMIM:615095
Developmental And Epileptic Encephalopathy 82
Cerebral atrophy, Spastic paraparesis, Inability to walk, Spastic tetraplegia OMIM:618721
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cerebral atrophy, Pulmonary arterial hypertension, Generalized hypotonia, Hypotonia, Abnormal pos... OMIM:614857
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, CNS hypomyelination, Microcephaly, Exaggerated startle response, Delayed myel... OMIM:618367
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Frequent falls, Vocal cord paresis, Impaired pain sensation, Head tremor, Ina... ORPHA:99949
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Axonal loss, Cerebellar atrophy, Ataxia, Abnormal autonomic nervous system ... OMIM:614575
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Cognitive impairment, Oligomenorrhea, Ankle clonus, Cerebellar atrophy, Unsteady gai... ORPHA:412057
Coach Syndrome 1
Dystonia, Portal hypertension, Ataxia, Coloboma, Generalized hypotonia, Optic disc pallor, Hypert... OMIM:216360
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Autosomal Recessive Spastic Paraplegia Type 75
Abnormal pyramidal sign, Dysmetria, Temporal optic disc pallor, Impaired vibratory sensation, Spa... ORPHA:459056
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Cerebral atrophy, Abnormality of the basal ganglia, Dystonia, Sensorineural hearing impairment, I... OMIM:612073
Hereditary Methemoglobinemia
Cerebellar atrophy, Spastic tetraplegia, Global brain atrophy, Athetosis, Limb dystonia, Temporal... ORPHA:621
Methanol Poisoning
Abnormal corpus callosum morphology, Inflammatory arteriopathy, Abnormal caudate nucleus morpholo... ORPHA:31825
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Agenesis of corpus callosum, Low-set ears, Basal ganglia cysts, Pulmonary arterial hypertension, ... OMIM:613623
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Microcephaly, Pulmonary arterial hypertension, Hypertension, Hearing impairment OMIM:613355
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension, Po... OMIM:613870
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Cerebellar dysplasia, Atonic seizure, Generalized myoclonic seizure, Abn... ORPHA:101070
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Simplified gyral patte... OMIM:615574
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination, Spastic paraparesis, Inability to walk, Mental deterioration, Lower limb spa... ORPHA:280229
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Spastic tetraplegia, Athetosis, Ataxia... OMIM:617710
Peho Syndrome
Cerebellar atrophy, Progressive microcephaly, Peripheral dysmyelination, Pachygyria, Hypoplasia o... OMIM:260565
Choreoacanthocytosis
Aggressive behavior, Phonic tics, Apathy, Hair-pulling, Hyperkinetic movements, Impaired vibrator... ORPHA:2388
Vici Syndrome
Dilated cardiomyopathy, Agenesis of corpus callosum, Low-set ears, Congestive heart failure, Schi... OMIM:242840
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Tinnitus, Second degree atrioventricular block, Athetosis, Focal myoclonic seizure, Seizure, Spas... ORPHA:369929
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Lower limb spasticity, Ataxia, Dystonic gait, Cerebral hypomyelination, Abnorm... ORPHA:280210
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction