Gene: Slc12a6 MGI:2135960

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.

Human diseases associated with Slc12a6 (2 diseases)
Human diseases predicted to be associated with Slc12a6 (1038 diseases)

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	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

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us