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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 (3 diseases)
Human diseases predicted to be associated with Slc12a6 (1023 diseases)

The table below shows human diseases associated to Slc12a6 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Axonal loss, Abolished vibration sense, Motor axonal n...	OMIM:620068
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, De...	OMIM:218000
Corpus Callosum Agenesis-Neuronopathy Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:1496

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

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co...	ORPHA:2932
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo...	OMIM:162500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607734
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen...	DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im...	OMIM:611228
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Somatic sensory dysfunction, Onion bulb formation, Peripheral demye...	OMIM:620378
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:214400
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of p...	ORPHA:280234
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118210
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation, Distal sensory impairment	OMIM:616039
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio...	OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:607706
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv...	ORPHA:401840
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi...	OMIM:618279
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor...	OMIM:607791
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:302800
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception	ORPHA:231445
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination, Distal sensory impairment	ORPHA:99944
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118200
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno...	OMIM:605253
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Axonal regenera...	OMIM:615185
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem...	OMIM:614877
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118220
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609311
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re...	OMIM:608323
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p...	OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Onion bulb formation...	OMIM:606483
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a...	OMIM:615035
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop...	ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:605589
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ...	OMIM:604484
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Dec...	ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Mental deterioration, G...	OMIM:249900
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa...	OMIM:607080
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:615376
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Tremor, Rigidity, Cerebral atrophy, Seizure, Neurodegeneration, Abn...	OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, I...	OMIM:614436
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness...	ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ...	OMIM:607677
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Vestibular schwannoma, Decreased compound muscle action potential amplitude, Distal sensory impai...	OMIM:613641
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Cerebral atrophy, Gait ataxia, Bilateral sensorin...	ORPHA:445062
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased testicular s...	OMIM:604168
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,...	ORPHA:401820
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Onion bulb formation, Acute demyelinating polyneuropathy, Gait ataxia	ORPHA:98916
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Sensory ataxia, Distal sensory impairment, Acute demye...	ORPHA:101081
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis...	OMIM:619742
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Depression, Limb fascicul...	OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai...	OMIM:607731
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased amplitude of s...	OMIM:618912
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Euphoria, Frontal lobe dementia, Axonal loss, D...	OMIM:221770
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa...	OMIM:615625
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Decreased number of peripheral myelinated nerve fibers, Peripheral ...	OMIM:607250
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:605285
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ...	ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination	ORPHA:431329
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:618184
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination	OMIM:616684
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Axial hypotonia, Generalized-onset ...	OMIM:618249
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor...	ORPHA:101010
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Dysplastic corpus callosum, Inability to walk, Dystonia...	OMIM:618276
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Intention tremo...	ORPHA:99027
Autosomal Recessive Spastic Paraplegia Type 5A	Lower limb spasticity, Atrophy of the spinal cord, Sensorineural hearing impairment, Abnormal cer...	ORPHA:100986
Adult Krabbe Disease	Progressive neurologic deterioration, Hoffmann sign, Ataxia, Clumsiness, Impaired tactile sensati...	ORPHA:206448
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination, Distal sen...	OMIM:311070
Friedreich Ataxia	Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax...	ORPHA:95
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:604563
Atypical Juvenile Parkinsonism	Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Seizure, Shuffling gait, Brai...	ORPHA:391411
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp...	ORPHA:320370
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Atrophy of the spinal c...	ORPHA:329308
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n...	ORPHA:99014
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi...	OMIM:619565
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607831
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a...	ORPHA:401830
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Paresthesia	ORPHA:640
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Short att...	OMIM:617854
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Gait a...	ORPHA:139480
Autosomal Dominant Spastic Paraplegia Type 9B	Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Hypotonia, Focal dysto...	ORPHA:447757
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Somatic sensory dysfunction	OMIM:612577
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Confusion, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal p...	OMIM:607483
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P...	ORPHA:101082
Spastic Paraparesis-Deafness Syndrome	Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis	ORPHA:2815
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:600882
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Progressive spastic parapares...	ORPHA:35689
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Hyperactivity, Ataxia, Tremor, Dysplastic corpus callosum, Delayed...	ORPHA:599373
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Gait disturbance, Progressive spastic par...	OMIM:612020
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum...	OMIM:169500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:620111
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up...	OMIM:613672
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Rigidity, Spasticity, Gait ataxia, Dysdiadochokinesis, Abnormal...	ORPHA:247234
Superficial Siderosis	Cerebellar atrophy, Ataxia, Subarachnoid hemorrhage, Atrophy of the spinal cord, Vertigo, Unstead...	ORPHA:247245
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s...	ORPHA:101111
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Demyelinating motor neuropathy, ...	OMIM:608804
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Palatal tremor, Abnormal autonomic nervo...	ORPHA:363722
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Rigidity, Focal hemiclon...	OMIM:616981
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Cerebellar atrophy, Decreased distal s...	ORPHA:466768
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum...	OMIM:620317
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P...	ORPHA:71211
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Generalized myocl...	OMIM:610951
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Seizure, Neurodegeneration	OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment	OMIM:613287
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti...	OMIM:616040
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode...	OMIM:245200
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Spastic tetraparesis, Sensorineural hearing impairment, Seizure, Brain atrophy	OMIM:618741
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Segmental peripheral demyeli...	OMIM:601455
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l...	OMIM:610245
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t...	OMIM:616687
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Ataxia, Impaired pain sensation	ORPHA:101075
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Cognitive i...	OMIM:614487
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Peripheral axonal neuropathy, Somatic sensory dysfunction, Demyelinating sensory neuropathy, Demy...	ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment	OMIM:608895
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunct...	ORPHA:101077
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap...	OMIM:250100
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:302801
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, A...	OMIM:256840
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Mental deterioration, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Gait...	OMIM:615643
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination	ORPHA:401835
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy	ORPHA:98773
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Depression, Paresthesia, Allodynia, CNS d...	ORPHA:221091
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy, Low-set ears	OMIM:162100
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidit...	OMIM:607454
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Abnormal motor nerve conduction velocity	ORPHA:139536
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Seizure, Axonal degeneration, Waddling gait	OMIM:618138
Charcot-Marie-Tooth Disease Type 4A	Impaired pain sensation, Impaired distal proprioception, Decreased number of large peripheral mye...	ORPHA:99948
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypotonia, Hypertension, Seizure, Progressive he...	ORPHA:97229
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal vestibular function, Dilated cardiomyopathy, Abnormal cerebellar cortex morphology, Gait...	ORPHA:70595
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-...	ORPHA:395
Diaminopentanuria	Seizure, Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Autosomal Recessive Spastic Paraplegia Type 35	Dysmetria, Cognitive impairment, Oculomotor apraxia, Cerebellar atrophy, Spastic tetraparesis, Ba...	ORPHA:171629
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g...	ORPHA:254343
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins...	ORPHA:506353
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Gait ataxia, Se...	ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:606595
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Sensorineural hearing impairment, Gait disturbance, Spasticity	ORPHA:2820
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati...	OMIM:604360
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia	OMIM:117210
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Transient global am...	ORPHA:140989
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene...	OMIM:615957
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Impotence, Dementia...	OMIM:300100
Posterior Column Ataxia With Retinitis Pigmentosa	Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Optic atrophy, ...	OMIM:609033
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Sp...	OMIM:256600
Monomelic Amyotrophy	Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction	ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Atrophy of the spinal cord, Inabil...	ORPHA:2822
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment	OMIM:616155
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S...	OMIM:610357
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity, Ataxia	OMIM:183050
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Distal sensory imp...	OMIM:615284
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Sensorineural hearing impairment, Hypertension, Hypertonia, Gait disturbance, Photosensit...	ORPHA:1192
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens...	ORPHA:352675
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Indifference To Pain, Congenital, Autosomal Recessive	Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d...	OMIM:243000
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Abnormal cerebellum morphology, Unste...	ORPHA:98762
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Telangiectasia of the skin, Retinal telangiectasia, Gait ataxia, Neurodegener...	ORPHA:438134
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper limb spasticity, Cognitiv...	ORPHA:320391
Spinocerebellar Ataxia Type 37	Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance...	ORPHA:363710
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment	OMIM:600361
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Seizure, Generalized hy...	OMIM:616811
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Spastic parapl...	OMIM:612319
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Cerebellar atrophy, Clonus, Delayed myelination, Chorea, Spastic tetrapl...	OMIM:613811
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ...	ORPHA:139399
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Ataxia, Impaired pain sensation	ORPHA:101078
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Tremor	ORPHA:99965
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Hypotonia, Craniofacial dystonia	OMIM:620011
Spastic Paraplegia 84, Autosomal Recessive	Spastic paraplegia, Hypertonia, Tip-toe gait, Difficulty walking, Cervical spinal cord atrophy	OMIM:619621
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Optic neuropathy, Axonal degeneration, Abnormal muscle tone, Neur...	ORPHA:478029
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Leukodystrophy, Hypomyelinating, 18	Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Abnormal motor nerve co...	OMIM:618404
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy, Irritability, D...	OMIM:614116
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Involuntary movements, Decreased numb...	OMIM:271245
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip...	OMIM:613647
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De...	OMIM:270550
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Optic atrophy, ...	OMIM:616680
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ...	OMIM:610532
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Axonal degeneration, Op...	OMIM:278800
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la...	OMIM:162400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Broad-based gait, Ataxia, Telangiectases producing 'marbled' skin, Hypertension, Seizure, Brain a...	OMIM:206570
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Rigidity, Abnormal autonomic nervous system physiology, Limb dystonia, ...	OMIM:616840
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:616291
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Bilateral tonic-clonic seizure, Akinesia, Rigidity, Focal motor ...	OMIM:619911
Late-Infantile/Juvenile Krabbe Disease	Tremor, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensation, Abnormal CNS myelinat...	ORPHA:206443
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Ataxia	ORPHA:1368
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Spastic ...	OMIM:619147
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Dysdiadochokinesis, Degeneration of the striatum, Gait disturbance, Hypokinesia	OMIM:609161
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia	ORPHA:101005
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Roussy-Lévy Syndrome	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	ORPHA:3115
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude	OMIM:619112
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia	OMIM:619862
Opticocochleodentate Degeneration	Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment	OMIM:258700
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:619279
Dpagt1-Cdg	Prolonged QT interval, Epileptic spasm, Ataxia, Infantile axial hypotonia, Akinesia, Generalized ...	ORPHA:86309
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Impaired ...	OMIM:614409
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab...	OMIM:128100
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Axonal loss, Abolished vibration sense, Motor axonal n...	OMIM:620068
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Infantile spasms, Pulmonary embolism, Atrophy of the spinal cord, Dilat...	ORPHA:79282
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiado...	ORPHA:313772
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Peripheral axonal neuropathy, Impaired pain sensation, Decreased nerve conduction velocity, Impai...	ORPHA:435387
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal peripheral action p...	ORPHA:457205
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Spinocerebellar atrophy, Progressive cer...	ORPHA:95433
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:605726
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Hand tremor, Lateral ventricle dilatation, Neurodegeneration, Dystoni...	OMIM:615889
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Impaired distal ta...	OMIM:618400
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Delayed CNS myelina...	OMIM:616881
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal...	OMIM:619519
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Seizure, Ataxia, Cochlear degeneration	ORPHA:3233
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Abnormal vestibular function, Broad-based gait, Peripheral axonal neuropathy, Ataxia, Sensorineur...	OMIM:607459
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Axonal degeneration, Falls	OMIM:618811
Autosomal Dominant Spastic Paraplegia Type 73	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para...	ORPHA:444099
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia...	ORPHA:329284
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Compulsive behaviors, Abno...	ORPHA:500166
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Decreased nerve conduction velocity, Leukodystrophy	OMIM:614932
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur...	OMIM:610185
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d...	ORPHA:52368
Amyotrophy, Monomelic	Cervical spinal cord atrophy	OMIM:602440
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Sensorineural he...	OMIM:614559
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Diffuse axonal swelling, Atrophy of the spinal cord, Partial agenesis of the corpus callosum, Cer...	ORPHA:86822
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity	ORPHA:868
Ataxia-Pancytopenia Syndrome	Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dys...	OMIM:159550
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Cryptorchidism, Abnormal au...	OMIM:609136
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener...	OMIM:604320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity	OMIM:607678
Corticobasal Syndrome	Limb dystonia, Akinesia, Tremor, Gait disturbance, Myoclonus, Dystonia, Progressive extrapyramida...	ORPHA:454887
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal ce...	ORPHA:391417
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal sensory impairment,...	OMIM:612674
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis	ORPHA:27
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Tremor, Rigidity, Gait ataxia, Myoclonus, Limb dystonia, Hypokinesia	OMIM:605407
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, De...	OMIM:218000
Lower Motor Neuron Syndrome With Late-Adult Onset	Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity	ORPHA:276435
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gai...	ORPHA:216866
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, F...	ORPHA:240094
Aminoacylase 1 Deficiency	Cerebellar atrophy, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Hypotonia, ...	OMIM:609924
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ataxia	ORPHA:1188
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain...	OMIM:608703
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Seizure, Cerebellar hypoplas...	OMIM:604213
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Seizure, D...	OMIM:300475
Epidermal Nevus Syndrome	Spinal cord compression, Atrophy of the spinal cord, Progressive spastic paraparesis, Spinal cord...	ORPHA:35125
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Progressive psychomotor deterioration, Ataxia, Park...	ORPHA:909
Combined Oxidative Phosphorylation Deficiency 1	Axial hypotonia, Seizure, Hypertonia, Global brain atrophy, Spasticity, Hypokinesia	OMIM:609060
Maternally-Inherited Diabetes And Deafness	Ataxia, Congestive heart failure, Sensorineural hearing impairment, Hypertension, Arrhythmia, Apl...	ORPHA:225
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Spasticity, Dystonia, Progressive sensorine...	OMIM:304700
Coasy Protein-Associated Neurodegeneration	Peripheral axonal neuropathy, Parkinsonism, Difficulty walking, Spastic paraparesis, Oromandibula...	ORPHA:397725
Chédiak-Higashi Syndrome	Cerebellar atrophy, Ataxia, Epistaxis, Decreased nerve conduction velocity, Atrophy of the spinal...	ORPHA:167
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet...	ORPHA:280219
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Optic atrophy, Hypotonia, Cerebral atrophy, Spast...	ORPHA:391428
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity, Impaired pain sensation	ORPHA:2926
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Hypotonia, Generalized hyp...	OMIM:614707
Hereditary Late-Onset Parkinson Disease	Resting tremor, Akinesia, Rigidity, Shuffling gait, Dystonia, Cerebral cortical atrophy, Orthosta...	ORPHA:411602
Spinocerebellar Ataxia Type 1	Chorea, Impaired proprioception, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiad...	ORPHA:98755
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance...	ORPHA:289560
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:614455
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Optic atrophy, Hypotonia, Seizure, Neurodegeneration, Status epilepticus, Gen...	OMIM:616239
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment...	ORPHA:99950
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Developmental And Epileptic Encephalopathy 28	Axial hypotonia, Rigidity, Optic atrophy, Cerebral atrophy, Seizure, Status epilepticus, Spastici...	OMIM:616211
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma...	OMIM:256850
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Tremor, Cerebral atrophy, Gait ataxia, Hypertension, Seizure, Status epi...	ORPHA:363400
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar dege...	OMIM:601104
Wild Type Abeta2M Amyloidosis	Dysesthesia, Decreased nerve conduction velocity, Axonal loss, Paresthesia, Decreased amplitude o...	ORPHA:85446
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity, Distal sensory impairment	ORPHA:100998
Fetal Akinesia Deformation Sequence	Akinesia, Posteriorly rotated ears, Dandy-Walker malformation, Hypokinesia	ORPHA:994
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Akinesia, Diminished movement, Rigidity, Cogwheel rigidity, Se...	ORPHA:97349
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Cerebral white matter atrophy, Ataxia, Delayed peripheral myelination, Microcephal...	ORPHA:464282
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Blepharospasm, Neurodegenerat...	OMIM:234200
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Somatic sensory dysfunction, Abnormality of the s...	ORPHA:90117
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased nerve conduction velocity, Decreased sensory nerve co...	OMIM:201300
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Spastic para...	OMIM:615491
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, I...	OMIM:618241
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Sensorineural...	ORPHA:79097
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In...	OMIM:312080
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity	OMIM:616494
Tangier Disease	Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip...	OMIM:205400
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr...	ORPHA:309246
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Peripheral axonal neuropathy, Spastic paraplegia, Ataxia, CNS hypomyelination	OMIM:619688
Parkinson Disease 17	Tremor, Resting tremor, Rigidity, Akinesia	OMIM:614203
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Dysplast...	OMIM:619737
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Transient ischemic attack, Lacunar stroke, Hypertension, Seizure, Gait disturbance	OMIM:616779
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly	OMIM:618010
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista...	OMIM:616688
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Rapid neurologic det...	OMIM:272200
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ...	ORPHA:139578
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Confusion, Decreased nerve conduction velocity, Poor coordi...	OMIM:238970
Neurodegeneration With Brain Iron Accumulation 4	Tremor, Abnormal pyramidal sign, Loss of ambulation, Abnormal lower motor neuron morphology, Atax...	OMIM:614298
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Axial hypotonia, Tremor, Inability to walk, S...	OMIM:617013
Foxg1 Syndrome	Decreased body weight, Abnormal repetitive mannerisms, Delayed myelination, Inability to walk, Br...	ORPHA:561854
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati...	OMIM:613640
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Rigidity, Granulovacuolar degeneration, Falls, Gait im...	OMIM:609454
Autosomal Recessive Spastic Paraplegia Type 21	Abnormality of peripheral nerve conduction	ORPHA:101001
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Akinesia, Tremor, Congestive heart failure, Rigidity, Limb ataxia,...	ORPHA:48818
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Short attention span, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubatio...	ORPHA:225147
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Dysmetria, Paresthesia, Abnormality of peripheral nerve conduction, Motor axonal neuropathy	ORPHA:48431
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Frontotemporal dementia, Athetosis, Axonal loss, Dystonia	OMIM:300857
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Cardiac arrest, Akinesia, Hand tremor, Prominent antihelix, Hypertonia, Genera...	OMIM:618947
Combined Oxidative Phosphorylation Deficiency 6	Seizure, Generalized-onset seizure, Hypotonia, Hypokinesia	OMIM:300816
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,...	ORPHA:320375
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Abnorma...	OMIM:540000
Intermediate Nemaline Myopathy	Severe muscular hypotonia, Facial palsy, Facial diplegia, Cardiomyopathy, Difficulty walking, Low...	ORPHA:171433
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Hypertonia, Gait disturbance, Dystonia	ORPHA:306682
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Rigidity, Sensorineural hearing impairment, Optic atrophy, Seizure, Gait ...	ORPHA:163937
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Gait ataxia, Titubation, Head tremor...	ORPHA:98771
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Hypotonia...	OMIM:614739
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atro...	OMIM:252650
Arachnoid Cyst	Facial palsy, Inability to walk, Cranial nerve compression, Paraparesis, Slurred speech, Distal s...	ORPHA:2356
Cednik Syndrome	Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction	ORPHA:66631
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Choreoathetosis, Dystonia, Failure to thrive, Agenesis of corpus ...	OMIM:618238
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Impaired vibration sensation in the lower limbs, Impai...	OMIM:270685
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Sensorineural hearing impairment, ...	OMIM:214150
Gaucher Disease, Perinatal Lethal	Akinesia, Opisthotonus, Seizure, Microtia, Low-set ears, Hypokinesia	OMIM:608013
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Sensorineural he...	OMIM:618170
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormal peripheral myelination, Testicular dysgenesis, Primary amenorrhea, Steppag...	ORPHA:168563
Neurofibromatosis, Familial Spinal	Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Spi...	OMIM:162210
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia, Progressive ext...	ORPHA:240071
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochok...	ORPHA:504476
Huntington Disease	Caudate atrophy, Dystonia, Rigidity, Inability to walk, Cerebral atrophy, Seizure, Gait disturban...	ORPHA:399
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, At...	OMIM:617951
Alg11-Cdg	Axial hypotonia, Ataxia, Cerebral atrophy, Opisthotonus, Limb hypertonia, Seizure, Hypertonia, In...	ORPHA:280071
Severe X-Linked Mitochondrial Encephalomyopathy	Severe muscular hypotonia, Generalized hypotonia, Sensory axonal neuropathy, Hypokinesia	ORPHA:238329
Perry Syndrome	Akinesia, Tremor, Rigidity, Dystonia, Short stepped shuffling gait	OMIM:168605
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity	OMIM:615575
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Dystonia, Ataxia, Cardiac arrest, Sensorineural hearing impairment, Optic atrophy, Ventricular ta...	OMIM:616878
Acute Transverse Myelitis	Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Dysesthesia, ...	ORPHA:139417
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Peripheral demyelination	OMIM:616733
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Hypotonia, Dysmetria, Gait at...	OMIM:117360
Hereditary Methemoglobinemia	Cerebellar atrophy, Delayed myelination, Spastic tetraplegia, Temporal cortical atrophy, Athetosi...	ORPHA:621
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A...	ORPHA:98759
Glutaric Acidemia I	Delayed myelination, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Symmetrical pro...	OMIM:231670
Multiple Pterygium Syndrome, Lethal Type	Akinesia, Low-set ears	OMIM:253290
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal...	OMIM:609541
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:225790
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Optic disc pallor, Decreased motor nerve conduction velocity, Impai...	OMIM:164400
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c...	OMIM:603472
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Axonal loss, Distal sensory impairment	OMIM:118300
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Optic a...	ORPHA:544469
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inability to walk, Chorea, Hy...	OMIM:617864
Morgagni-Stewart-Morel Syndrome	Vertigo, Hypertension, Seizure, Brain atrophy, Cerebral cortical atrophy, Action tremor	ORPHA:77296
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Titubation, Gait ...	ORPHA:98768
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G...	OMIM:133190
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ataxia, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiomyopathy, Hyper...	ORPHA:1349
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal gan...	ORPHA:300573
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Cerebral hemorrhage, Tremor, Congestive heart...	ORPHA:94080
Congenital Disorder Of Glycosylation, Type Iu	Severe muscular hypotonia, Optic atrophy, Seizure, Cerebellar hypoplasia, Generalized hypotonia, ...	OMIM:615042
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, Dysmetria, Progressi...	OMIM:603516
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Limb ataxia, Pa...	OMIM:105210
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Delayed CNS myelination, Inability to walk, Brain atrophy, Hypoplas...	OMIM:620114
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Axonal loss, P...	OMIM:614575
Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Sensorineural hearing impairment, Hypotonia, Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Congenital Myopathy 9A	Neonatal hypotonia, Akinesia	OMIM:618822
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal...	OMIM:260600
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Optic atrophy, Limb ataxia, Choreoathetosis, Hypertension, App...	OMIM:617595
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs o...	ORPHA:171680
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy	OMIM:613909
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dyst...	ORPHA:101150
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Hypotonia, Hypertension, Dysdiadoch...	OMIM:612780
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Lacunar stroke, Hyperten...	ORPHA:136
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Sneddon Syndrome	Tremor, Vertigo, Intracranial hemorrhage, Hypertension, Seizure	ORPHA:820
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Leukodystrophy	OMIM:619851
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Posteriorly rotated ears, Hypertension, Cerebellar hypoplasia, Low-set ears, ...	OMIM:617763
Combined Oxidative Phosphorylation Deficiency 2	Neonatal hypotonia, Agenesis of corpus callosum, Hypokinesia, Low-set ears	OMIM:610498
Congenital Myopathy 10A, Severe Variant	Facial palsy, Abnormal motor nerve conduction velocity	OMIM:614399
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity	OMIM:613724
Preeclampsia/Eclampsia 1	Hypertension, Seizure	OMIM:189800
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cerebral atrophy,...	OMIM:272750
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Generalized dystonia, Ataxia, Axial hypotonia, Infantile spasms, Dilated cardiomyopa...	OMIM:618321
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Irritability, Axon...	OMIM:252160
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Unsteady gait, Truncal ataxia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Dystonia...	ORPHA:453521
Congenital Myopathy 12	Neonatal hypotonia, Hypotonia, Akinesia	OMIM:612540
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Inability to walk, Limb ataxia, Agenesis of corpus callos...	OMIM:617695
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypogonadotropic hypogon...	ORPHA:298
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Delayed CNS myelination, Generalized dystonia, Inability to walk, Partial agenesis of the corpus ...	OMIM:619653
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Agenesis of corpus callosum	OMIM:166990
Poliomyelitis	Confusion, Abnormal motor nerve conduction velocity, Paralysis, Inability to walk, Paraparesis, I...	ORPHA:2912
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Dysmetria, Emotiona...	OMIM:275900
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Appendicular hypotonia, Axial hypotonia, Ataxia, Hypokinesia	OMIM:620007
Combined Oxidative Phosphorylation Defect Type 13	Choreoathetosis, Delayed myelination, Decreased nerve conduction velocity	ORPHA:319514
Kanzaki Disease	Telangiectasia of the oral mucosa, Peripheral axonal neuropathy, Vertigo, Axonal degeneration, Se...	OMIM:609242
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Brain atrophy, Cerebral atrophy, Abnormal myelination	ORPHA:85179
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a...	OMIM:229300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha...	OMIM:614833
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Joubert Syndrome 14	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar vermis, Ataxia, Op...	OMIM:614424
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Akinesia	OMIM:607598
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,...	ORPHA:101076
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Conjunctival telangiectasia, Ataxia, Sensorineural hearing impairment, Unstea...	OMIM:615919
Methylcobalamin Deficiency Type Cble	Hypotonia, Hypertension, Lower limb hypertonia, Seizure, Brain atrophy, Hearing impairment	ORPHA:2169
Peho Syndrome	Cerebellar atrophy, Optic atrophy, Neuronal loss in central nervous system, Hypoplasia of the cor...	OMIM:260565
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Developmental And Epileptic Encephalopathy 82	Inability to walk, Spastic tetraplegia, Cerebral atrophy, Spastic paraparesis	OMIM:618721
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, Dysdiadochokinesis, Ataxia, Dysmetria	OMIM:618356
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum, Hypokinesia	OMIM:300073
Coach Syndrome 1	Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Portal hypertension, Aplasia/Hypoplasia ...	OMIM:216360
Progressive Supranuclear Palsy-Corticobasal Syndrome	Diminished movement, Rigidity, Tremor, Focal dystonia, Progressive extrapyramidal muscular rigidi...	ORPHA:240103
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti...	ORPHA:1187
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Salt craving, Ataxia, Inability to walk, Periph...	ORPHA:199343
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus cal...	ORPHA:2524
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Waardenburg Syndrome, Type 4A	Ataxia, Aganglionic megacolon, Leukodystrophy, Spastic paraparesis	OMIM:277580
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Gait ataxia, Hypertonia, Generalized hypotonia, Ataxia, Facial palsy, Dilated cardiomyopa...	ORPHA:254892
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Posteriorly rotated ears, Cupped ear, Hypertension, Status ep...	OMIM:613870
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Optic atrophy, Dysmetria, Cerebral atrophy, Gait ataxia, Seizure, Dysdiadocho...	OMIM:610217
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Inability to walk, Babinski sign, CNS hypomyelination, Gait disturbance, D...	ORPHA:280229
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Impaired temperature sensation, Distal sensory impairment, Trophic changes re...	ORPHA:36386
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi...	ORPHA:488627
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Seizure, Neurodegeneration, Hypotonia	OMIM:620210
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Truncal ataxia, Dysmetria, Dystonia, Failure to thrive, Agenesis of corp...	OMIM:250620
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia, Chiari type I malforma...	OMIM:618476
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ...	ORPHA:280210
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Dysphagia, Gait ...	ORPHA:255210
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Sensory a...	OMIM:616192
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Myoclonic...	OMIM:252150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Leukodystrophy, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms...	OMIM:619475
Sneddon Syndrome	Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Seizure, Ischemic stroke	OMIM:182410
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spastic tetraparesis, Progressi...	ORPHA:496756
Spinal Arteriovenous Metameric Syndrome	Paraparesis	ORPHA:53721
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive...	ORPHA:2821
Juvenile Paget Disease	Hypertension, Optic atrophy, Hearing impairment	ORPHA:2801
Unilateral Polymicrogyria	Axial hypotonia, Epistaxis, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Seizure, ...	ORPHA:268943
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Broad-based gait, Hypertonia, Neurodegeneration, Gait disturbance, Difficult...	ORPHA:79244
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity	ORPHA:2928
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Bilateral tonic-clonic seizure, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Athetosis...	ORPHA:369929
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Progressive psychomotor deterioration, Motor deterio...	ORPHA:3208
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Hypokinesia, Rigidity, Gait disturbance, Shuffling gait, Myoclonus, Dystonia, Los...	OMIM:168601
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Abnormal posturing, Hypotonia, Cerebral atrophy	OMIM:614857
Muscular Hypertonia, Lethal	Hypertonia, Hypokinesia	OMIM:254120
Gaucher Disease, Type Iii	Ataxia, Progressive neurologic deterioration, Depression, Dementia, Myoclonus, Spastic paraparesis	OMIM:231000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia	OMIM:620358
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor...	ORPHA:276621
Choreoacanthocytosis	Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dysto...	ORPHA:2388
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Rigidity, Dysmetria, Gait ataxia, Hypertension, Gait disturbance, Abnormal autonomic nerv...	ORPHA:93256
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Joubert Syndrome 23	Coloboma, Sensorineural hearing impairment, Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ataxia	ORPHA:1933
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Glomus tympa...	OMIM:168000
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Ataxia, Postural tremor, Rigidity, Gait ataxia, Focal dystonia...	ORPHA:98808
Aicardi-Goutieres Syndrome 9	Pericarditis, Axial hypotonia, Portal hypertension, Spastic tetraparesis, Optic atrophy, Spastic ...	OMIM:619487
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction	OMIM:608320
Optic Atrophy 11	Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp wave...	OMIM:617302
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Primary Progressive Freezing Gait	Postural tremor, Rigidity, Hypertension, Shuffling gait, Difficulty walking, Gait imbalance, Cere...	ORPHA:75567
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Optic atrophy, Hypoto...	ORPHA:90321
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Myocardial infarction, Tremor, Hypotonia, Seizure, Gait disturban...	ORPHA:457240
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93476
Asparagine Synthetase Deficiency	Exaggerated startle response, Caudate atrophy, Optic nerve hypoplasia, Reduced cerebral white mat...	OMIM:615574
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Hypoton...	OMIM:617751
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebral calcification, Hyperactivity, Microcephaly, Basal ganglia ...	OMIM:617281
Coach Syndrome 2	Cerebellar vermis hypoplasia, Coloboma, Hypertension, Chorioretinal coloboma, Agenesis of corpus ...	OMIM:619111
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ...	ORPHA:99956
Familial Cervical Artery Dissection	Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, ...	ORPHA:36382
African Trypanosomiasis	Papilledema, Pericarditis, Abnormal EKG, Akinesia, Tremor, Myocarditis, Congestive heart failure,...	ORPHA:3385
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Axial hypotonia, Hypertension, Microtia, Low-set ears, Pulmonary arterial hypertension, Hypokinesia	OMIM:613320
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Paraplegia, Leukodystrophy	ORPHA:79124
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor...	ORPHA:29072
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Chorea, Impaired distal ...	OMIM:606002
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Decreased compound muscle action potential amplitude, Facial palsy	OMIM:603511
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of...	OMIM:619955
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial...	OMIM:301830
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Diminished movemen...	OMIM:608643
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Tremor, Rigidity, Neurodegeneration, Abnormal autonomic nervous ...	OMIM:146500
Tetanus	Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Abnormal auto...	ORPHA:3299
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Cerebral white matter atrophy, Abnormal cortical gyration, Microcep...	ORPHA:521426
Monosomy 18P	Generalized dystonia, Hypotonia, Protruding ear, Abnormal antihelix morphology, Hypertension, Mac...	ORPHA:1598
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension, Paraganglioma	OMIM:618464
Igg4-Related Pachymeningitis	Somatic sensory dysfunction, Confusion, Paraparesis, Abnormality of cervical plexus, Abnormality ...	ORPHA:449427
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Tetraparesis	OMIM:602080
Infantile Dystonia-Parkinsonism	Axial hypotonia, Oculogyric crisis, Hypertonia, Dystonia, Hypokinesia, Limb hypertonia	ORPHA:238455
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, Decreased body weight, Short co...	ORPHA:255138
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Central nervous system degeneration, In...	ORPHA:447788
Infantile Neuroaxonal Dystrophy	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Diffuse axonal swelling, Abnormal autonomic ...	ORPHA:35069
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Ataxia, Dysplastic corpus callosum, Inability to walk, Athetosis, Secondar...	ORPHA:357058
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Facial dipl...	ORPHA:98889
Charcot-Marie-Tooth Disease Type 1E	Impaired temperature sensation, Decreased nerve conduction velocity, Impaired vibration sensation...	ORPHA:90658
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure, Hypokinesia	OMIM:249650
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Leukody...	ORPHA:309256
Mucopolysaccharidosis, Type Ii	Papilledema, Congestive heart failure, Seizure, Neurodegeneration, Cervical cord compression, Rec...	OMIM:309900
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
Penile Agenesis	Atrophy of the spinal cord, Posteriorly rotated ears	ORPHA:49
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Distal sensory impai...	OMIM:606070
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Exaggerated startle response, Ataxia	OMIM:618598
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Brain atrophy, A...	OMIM:616900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ataxia, Small for gestational age, Microcephaly, Tremor, Partial agenesis of the corpus callosum,...	OMIM:220111
Sjogren-Larsson Syndrome	CNS demyelination, Spasticity, Spastic paraparesis	OMIM:270200
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age, Cryptorchidism	OMIM:620135
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia	OMIM:610651
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm...	ORPHA:485421
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Abnormal cortical gyration, Delayed myelination, Cessation of head ...	OMIM:617527
Farber Disease	Paraparesis, Spasticity, Myoclonus, Brain atrophy	ORPHA:333
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ...	OMIM:500013
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Apert Syndrome	Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Hyperten...	ORPHA:87
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Hypertonia, Myoclonus, Abnormal myelination	ORPHA:289266
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Glomus jugular tumor, Adrenal phe...	OMIM:605373
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cere...	ORPHA:314404
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Low-set ears	ORPHA:280679
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Distal sensory impairme...	OMIM:616652
Potocki-Shaffer Syndrome	Hypertension, Seizure	ORPHA:52022
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertension, Seizure, Low-set ears, Spasticity	OMIM:617729
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm...	OMIM:613280
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Failure to thrive	OMIM:620001
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Hypointensity of cerebral white matter on MRI, ...	ORPHA:845
Severe Congenital Nemaline Myopathy	Severe muscular hypotonia, Facial palsy, Facial diplegia, Low-set ears, Hypokinesia	ORPHA:171430
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Agenesis of corpu...	OMIM:618733
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Hypoplasia of the frontal lobes	ORPHA:163985
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired temperature sensation, CN...	OMIM:268800
Cockayne Syndrome A	Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal peripheral myelination, Abnormal auditory...	OMIM:216400
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Sialidosis Type 1	Decreased nerve conduction velocity, EEG abnormality, Ataxia	ORPHA:812
German Syndrome	Hearing abnormality, Hypotonia, Hypokinesia	ORPHA:2077
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Brain atrophy, Cerebral...	OMIM:620327
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure with fo...	OMIM:614947
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Tremor, Hypotonia, Hypertension, Seizure, Arrhythmia, Low-set ears, Generalized hypotonia...	OMIM:614052
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Cockayne Syndrome B	Failure to thrive, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ...	OMIM:133540
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Inability to walk, Focal-onset seizure, Hypotonia, Generalized non-motor (absence) ...	ORPHA:258
Stiff Skin Syndrome	Hypertension, Sensorineural hearing impairment	ORPHA:2833
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Optic atrophy, Hypotonia, Spasticity, Hypertension, Seizure, Brain atrophy, In...	OMIM:617913
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Myopathy, Centronuclear, X-Linked	Severe muscular hypotonia, Facial palsy, Neonatal hypotonia, Dandy-Walker malformation, Hypokinesia	OMIM:310400
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Tremor, Optic atrophy, Hypotonia, Choreoathetosis, Seizure,...	OMIM:615673
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration, Spasticity	ORPHA:803
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Seizure, Myoclonus, Brain atrophy, Neonatal hypotonia	ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpu...	OMIM:614924
Developmental And Epileptic Encephalopathy 8	Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes	OMIM:300607
Takayasu Arteritis	Myocardial infarction, Vasculitis, Hypertension, Seizure, Cerebral ischemia, Pulmonary arterial h...	ORPHA:3287
Sandhoff Disease, Infantile Form	Exaggerated startle response, Cerebral cortical atrophy, CNS hypomyelination	ORPHA:309155
Senior-Loken Syndrome	Hypertension, Ataxia	ORPHA:3156
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Leukodystrophy	ORPHA:309263
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Optic atrophy	OMIM:615419
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Hypotonia, Hypertension, Seizure, Low-set ears, Recurrent otitis media	OMIM:619758
Papillorenal Syndrome	Sensorineural hearing impairment, Optic disc coloboma, Chiari type I malformation, Hypertension, ...	OMIM:120330
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Dys...	OMIM:617301
Preeclampsia	Hypertension, Elevated systolic blood pressure, Elevated diastolic blood pressure	ORPHA:275555
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:619026
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Epistaxis, Hypertension, Tinnitus	ORPHA:403
Serotonin Syndrome	Tachycardia, Tremor, Rigidity, Hypertension, Seizure, Hypertonia, Myoclonus, Hypotension, Abnorma...	ORPHA:43116
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive...	ORPHA:183
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Dist...	ORPHA:477817
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Leukodystrop...	ORPHA:309271
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Seizure, Gait disturbance, Limb hy...	ORPHA:191
Primary Lateral Sclerosis, Juvenile	Decreased compound muscle action potential amplitude	OMIM:606353
Von Hippel-Lindau Syndrome	Vertigo, Sensorineural hearing impairment, Spinal hemangioblastoma, Hypertension, Pheochromocytom...	OMIM:193300
Vici Syndrome	Cerebellar vermis hypoplasia, Congestive heart failure, Sensorineural hearing impairment, Dilated...	OMIM:242840
Alexander Disease	Ataxia, Facial palsy, Sudden cardiac death, Tremor, Hypotonia, Hypertension, Seizure, Gait distur...	ORPHA:58
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Ataxia, Microcephaly, Dystonia	ORPHA:438216
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Seizure, Low-set ears	OMIM:300845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Optic atrophy, Lissencep...	OMIM:253800
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Epistaxis, Hypertension, Tinnitus	ORPHA:404
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Horner syndrome, Hypertension, Myoclonus, Ganglioneuroma	OMIM:256700
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, CNS hypomyelination	OMIM:619423
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Erythrocytosis, Familial, 1	Hypertension, Vertigo, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Generalized-onset seizure, Ischemic stroke	OMIM:615750
Lessel-Kubisch Syndrome	Hypertension	OMIM:618681
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Facial diplegia, Gait disturbance, Neonatal hypotonia, Hypokinesia	ORPHA:171436
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, EEG with burst suppression	OMIM:615368
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Combined Oxidative Phosphorylation Defect Type 39	EEG abnormality, Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia	ORPHA:565624
Von Hippel-Lindau Disease	Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Vertigo, Pancreat...	ORPHA:892
Oculodentodigital Dysplasia	Paraparesis, Spasticity, Ataxia, Tetraparesis	OMIM:164200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Severe muscular hypotonia, Optic nerve hypoplasia, Hypoplasia of the pons, ...	OMIM:615181
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Delayed CNS myelination, Microcephaly, CNS hypo...	OMIM:618367
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia...	OMIM:619179
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hematemesis, Va...	OMIM:615846
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Alport Syndrome 2, Autosomal Recessive	Hypertension, Anterior lenticonus, Hearing impairment	OMIM:203780
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Tinnitus	ORPHA:251274
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Hypertension	OMIM:166300
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Facial diplegia	ORPHA:329478
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hypokinesia	OMIM:619063
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Emotional lability, Abnormal autonomic nervous system physiology, Decreased n...	OMIM:256800
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Ataxia, Decreased nerve conduction velocity, Tremor, Seizure, G...	OMIM:214500
Marshall-Smith Syndrome	Axial hypotonia, Optic nerve hypoplasia, Hypotonia, Cerebral atrophy, Premature ventricular contr...	OMIM:602535
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep...	ORPHA:79138
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Unsteady gait, Dysmetria, Hand tremor, Hypogonadism, Spastic paraparesis, Decreased testicular size	ORPHA:3041
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hypertension, Thickened h...	ORPHA:1555
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypotonia, Hypertension, Seizure, Recurrent otitis media, Macrotia	ORPHA:449291
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Hypertension, Hearing impairment	ORPHA:110
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Dystonia, Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadocho...	ORPHA:309854
Hyperekplexia 1	Exaggerated startle response, Hypokinesia, Seizure, Hypertonia, Myoclonus, Nocturnal seizures	OMIM:149400
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Ataxia	OMIM:614863
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure, Spina bifida, Optic disc coloboma, Telangiectasia, Choreoathetosi...	OMIM:234100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Pain insensitivity, Ata...	OMIM:256810
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Bilateral cryptorchidism, Dysplastic corpus callosum, Large for gestational ...	ORPHA:544488
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Polyneuritis, Sensory axonal neur...	ORPHA:767
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Failure to thrive, Microcephaly	OMIM:604273
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis, Myelitis	OMIM:301080
Infant Botulism	Cardiac arrest, Hypotonia, Hypertension, Hypotension, Chronic otitis media	ORPHA:178478
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Ataxia, Optic atrophy, Hypotonia, Hypertension, Seizure, Ga...	ORPHA:1764
Anterior Cutaneous Nerve Entrapment Syndrome	Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ...	ORPHA:51890
Oligomeganephronia	Hypertension, Optic disc coloboma, Seizure, Hearing impairment	ORPHA:2260
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity	ORPHA:397744
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Distal sensory impairment	ORPHA:600
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Dysplastic corpus callosum, Peripheral axonal neuropathy	OMIM:618810
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Optic...	OMIM:264800
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Nephronophthisis-Like Nephropathy 1	Hypertension, Sensorineural hearing impairment, Seizure, Kinetic tremor	OMIM:613159
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Facial diplegia, CNS hypomyelination	OMIM:618186
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, ...	ORPHA:101000
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Hypertension, Myoclonic spasms	OMIM:184850
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Tinnitus	ORPHA:231625
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Mucopolysaccharidosis, Type Vii	Sensorineural hearing impairment, Cardiomyopathy, Neurodegeneration, Recurrent otitis media, Hear...	OMIM:253220
Beare-Stevenson Cutis Gyrata Syndrome	Posteriorly rotated ears, Optic atrophy, Hypertension, Chiari malformation, Atresia of the extern...	OMIM:123790
Orofaciodigital Syndrome I	Hearing impairment, Cerebral atrophy, Hypertension, Seizure, Low-set ears, Hypothalamic hamartoma...	OMIM:311200
Plin1-Related Familial Partial Lipodystrophy	Hypertension	ORPHA:280356
Purine Nucleoside Phosphorylase Deficiency	Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity	ORPHA:760
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Neurodegeneration, Recurrent otitis m...	OMIM:607014
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Hurler Syndrome	Angina pectoris, Hypotonia, Cardiomyopathy, Hypertension, Spastic paraparesis, Abnormal nerve con...	ORPHA:93473
Mercury Poisoning	Tachycardia, Tremor, Hypertension, Seizure, Hypotension, Dystonia	ORPHA:330021
Foix-Alajouanine Syndrome	Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Male se...	ORPHA:79093
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Xfe Progeroid Syndrome	Hypertension, Optic atrophy, Hearing impairment	OMIM:610965
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension, Multiple intestinal neurofibromatosis, Ganglioneuroma	ORPHA:251992
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Alstrom Syndrome	Congestive heart failure, Dilated cardiomyopathy, Hypertension, Otitis media, Progressive sensori...	OMIM:203800
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Seizure, Sync...	ORPHA:90065
Alport Syndrome 1, X-Linked	Hypertension, Sensorineural hearing impairment, Lenticonus, Anterior lenticonus	OMIM:301050
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Aganglionic megacolon, Posteriorly rotated ears, Pa...	OMIM:270400
Renal Hypodysplasia/Aplasia 1	Hypertension, Low-set ears	OMIM:191830
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Spastic paraparesis, Delayed myelination, Broad-based gait, Severe demyelination of the white matter	ORPHA:391408
Amyloidosis, Familial Visceral	Hypertension	OMIM:105200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis, Second degree ...	OMIM:615474
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hypotonia, Hypertension, Bradycardia, Low-set ears, Generalized ...	OMIM:614653
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Decr...	ORPHA:456312
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Hypertension, Tinnitus	ORPHA:231580
Ectopic Aldosterone-Producing Tumor	Epistaxis, Hypertension, Tinnitus	ORPHA:231632
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, A...	OMIM:115310
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ...	ORPHA:31826
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Severe muscular hypotonia, Optic nerve hypoplasia, Optic atrophy, Hypotonia, Coloboma, Seizure, M...	OMIM:236670
Alport Syndrome 3A, Autosomal Dominant	Hypertension, Sensorineural hearing impairment, Lenticonus, Hearing impairment	OMIM:104200
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Otosclerosis, Spinal cord compression, Sensorineural hearing impairment, Optic atrop...	ORPHA:217085
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Decreased nerve conduction velocity, Spinal cord compression, Sensorin...	ORPHA:580
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypotonia, Hypertension, Ischemic stroke, Generalized hypotonia, Aortic val...	OMIM:208050
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Otosclerosis, Spinal cord compression, Sensorineural hearing impairment, Optic atrop...	ORPHA:217093
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis	OMIM:608800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Decreased number of large peripheral myelinated nerve fiber...	OMIM:223900
Wagro Syndrome	Aniridia, Hypertension, Low-set ears	OMIM:612469
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Hypertension, Iris coloboma, Atrioventricular block	ORPHA:371428
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Op...	OMIM:243910
Cerebrofacioarticular Syndrome	Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corp...	ORPHA:314679
Lipodystrophy, Familial Partial, Type 4	Hypertension	OMIM:613877
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria	ORPHA:2328
Orofaciodigital Syndrome Type 1	Ataxia, Tremor, Hypertension, Seizure, Dystonia, Chronic otitis media, Agenesis of corpus callosu...	ORPHA:2750
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Spinal cord compression, Sensorineural hearing impairment, Choreoathetosis...	ORPHA:79443
Aicardi-Goutières Syndrome	Dystonia, Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si...	ORPHA:51
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Lipodystrophy, Familial Partial, Type 1	Hypertension	OMIM:608600
Alagille Syndrome	Hypertension, Spina bifida occulta, Telangiectasia of the skin, Protruding ear	ORPHA:52
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage, Hypertension, Seizure	ORPHA:231160
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Focal hemiclonic seizure, Congestive heart failure, Hypertension, Seiz...	ORPHA:1830
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Incoordination, Ataxia, Spastic paraparesis	ORPHA:369891
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Bilateral tonic-clonic seizure, Myocar...	ORPHA:90068
Porphyria Variegata	Hypertension, Tachycardia, Seizure, Abnormal autonomic nervous system physiology	ORPHA:79473
Lipodystrophy, Familial Partial, Type 6	Hypertension	OMIM:615980
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude	OMIM:620080
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Dystonia, Inability to walk, Delayed myelination, Chorea, ...	ORPHA:404454
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Beta-Ketothiolase Deficiency	Ataxia, Hypotonia, Hypertension, Seizure, Hypotension, Spasticity	ORPHA:134
Pediatric-Onset Graves Disease	Atrial fibrillation, Tremor, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Seizure, Pulmonary arterial hypertension	OMIM:617021
C3 Glomerulopathy	Hypertension	ORPHA:329918
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Diffuse cerebral atrophy, T2 hypointense basal ganglia, Diffuse whi...	ORPHA:79255
Bardet-Biedl Syndrome 1	Aganglionic megacolon, Ataxia, Hypertension, Gait imbalance, Hearing impairment	OMIM:209900
Pseudo-Torch Syndrome 3	Hypertension, Seizure, Cerebellar hypoplasia, Cerebral hemorrhage	OMIM:618886
Neuroleptic Malignant Syndrome	Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Hyp...	ORPHA:94093
Scalp-Ear-Nipple Syndrome	Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Congestive heart failure, C...	OMIM:181270
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Seizure, Bradycardia, ...	ORPHA:66529
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Au-Kline Syndrome	Sensorineural hearing impairment, Hypotonia, Hypertension, Microtia, Syringomyelia	OMIM:616580
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Bohring-Opitz Syndrome	Delayed peripheral myelination, Microcephaly, Hypoplasia of the corpus callosum, Failure to thriv...	OMIM:605039
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Lead Poisoning	Abnormality of the autonomic nervous system, Hypertension, Seizure	ORPHA:330015
Sandifer Syndrome	Hematemesis, Abnormal posturing, Torticollis	ORPHA:71272
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the cerebellum, Hypotonia, Facial palsy, Hypertensive crisis	ORPHA:1358
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Congenital Disorder Of Glycosylation, Type Iim	Epileptic spasm, Hypotonia, Cerebral atrophy, Hypertension, Seizure, Lateral ventricle dilatation...	OMIM:300896
Paroxysmal Hemicrania	Focal sensory seizure with olfactory features, Hypertension	ORPHA:157835
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Generalized-onset seizure, Raynaud phenomenon, Punctate vasculitis s...	ORPHA:247691
Yunis-Varon Syndrome	Abnormal pinna morphology, Renovascular hypertension, Hypertension, Cardiomyopathy, Cerebellar hy...	ORPHA:3472
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Optic atrophy	OMIM:615663
Alport Syndrome	Hypertension, Sensorineural hearing impairment, Anterior lenticonus	ORPHA:63
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, Optic atrophy, Vasculiti...	OMIM:615688
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Raynaud phenomenon, Vasculitis, Hypertension, Seizure, Spa...	ORPHA:1855
Argininemia	Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti...	OMIM:207800
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Cryptorchidism, Thi...	OMIM:300967
Schimke Immunoosseous Dysplasia	Waddling gait, Transient ischemic attack, Hypertension, Cerebral ischemia, Pulmonary arterial hyp...	OMIM:242900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Cerebral cortical atrophy, Hypotension	OMIM:174000
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Hypertension, Seizure, Chiari malformation, Hydromyelia, Brain atrophy, Ol...	OMIM:308205
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Norrie Disease	Remnants of the hyaloid vascular system, Sensorineural hearing impairment, Optic atrophy, Hypoton...	ORPHA:649
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Neurofibromatosis Type 1	Ataxia, Hearing abnormality, Hypertension, Seizure, Pheochromocytoma, Chorioretinal coloboma, Ple...	ORPHA:636
Pparg-Related Familial Partial Lipodystrophy	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:79083
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera...	ORPHA:252164
Multiple Endocrine Neoplasia, Type Iia	Hypertension, Pheochromocytoma, Aganglionic megacolon, Palpitations	OMIM:171400
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Optic atrophy, Intracranial hemorrhage, Hyperten...	ORPHA:394
Heme Oxygenase 1 Deficiency	Hypertension, Epistaxis, Diffuse alveolar hemorrhage	OMIM:614034
Wilson Disease	Dystonia, Decreased nerve conduction velocity, Tremor, Rigidity, Hand tremor, Seizure, Limb dysto...	OMIM:277900
Familial Osteodysplasia, Anderson Type	Large earlobe, Seizure, Hypertension, Abnormal earlobe morphology	ORPHA:2769
Scorpion Envenomation	Bundle branch block, Tachycardia, Hemifacial spasm, Ataxia, Cardiac conduction abnormality, Tremo...	ORPHA:466677
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Blau Syndrome	Hypertension, Pericarditis, Abnormality of the ear, Abnormal cranial nerve morphology	OMIM:186580
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Hypotonia, Dural ectasia	OMIM:616914
Nephronophthisis 18	Hypertension	OMIM:615862
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Premature ovarian insufficiency, Endometriosis	ORPHA:363444
Hunter-Macdonald Syndrome	Aortic regurgitation, Sensorineural hearing impairment, Hypertension, Mitral regurgitation, Condu...	OMIM:611962
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171420
Acute Intermittent Porphyria	Tachycardia, Tremor, Hypertension, Seizure, Motor axonal neuropathy	ORPHA:79276
Lipodystrophy, Familial Partial, Type 3	Hypertension	OMIM:604367
Nijmegen Breakage Syndrome	Recurrent otitis media, Macrotia, Neurodegeneration, Conjunctival telangiectasia	OMIM:251260
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Cerebral dysmyelination	OMIM:261515
Nephroblastoma	Aniridia, Hypertension	ORPHA:654
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Williams Syndrome	Myocardial infarction, Tremor, Dysmetria, Protruding ear, Chronic otitis media, Spina bifida occu...	ORPHA:904
Nephronophthisis 2	Hypertension, Pulmonary insufficiency	OMIM:602088
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Werner Syndrome	Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction	ORPHA:902
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Distal sensory impairment	OMIM:606071
Livedoid Vasculopathy	Telangiectasia of the skin, Hypertension, Ischemic stroke, Abnormality of the peripheral nervous ...	ORPHA:542643
Myhre Syndrome	Ataxia, Hypertension, Seizure, Microtia, Low-set ears, Aortic valve stenosis, Hearing impairment	OMIM:139210
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Oculomotor apraxia, Abnormal myelination	ORPHA:67045
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension	OMIM:201910
Isolated Posterior Meningocele	Tethered cord, Chiari malformation, Hydromyelia, Hypertonia, Difficulty walking, Upper limb spast...	ORPHA:268810
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal pinna morphology, Abnormal earlobe morphology, Abnormal antihelix morphology, Hypertensi...	ORPHA:95699
Senior-Boichis Syndrome	Hypertension, Diffuse cerebral atrophy, Portal hypertension	ORPHA:84081
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ataxia, Posteriorly rotated ears, Hypotonia, Hypertension, Seizure, Low-set ears	OMIM:266920
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Tremor, Congestive heart failure, Vertigo, Hypertension, Seizure, Pa...	ORPHA:91347
Fanconi Renotubular Syndrome 5	Hypertension	OMIM:618913
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Broad-based gait, Absent septum pellucidum, Inab...	ORPHA:438213
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Aggressive behavior, Bilateral cryptorchidism, Dysplastic corpus callosum, Cryptorchidism...	ORPHA:466791
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Overlap Myositis	Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension, Difficulty walking	ORPHA:206572
Japanese Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, EEG with burst suppression, Choreoatheto...	ORPHA:79139
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Aortic regurgitation, Mitral stenosis, Angina pe...	ORPHA:740
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Schinzel-Giedion Syndrome	Abnormality of the stapes, Epileptic spasm, Aganglionic megacolon, Chiari type I malformation, Ab...	ORPHA:798
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Ataxia	ORPHA:512
Caudal Regression Syndrome	Hypertension, Chiari malformation	ORPHA:3027
Eales Disease	Optic disc pallor, Spastic paraparesis	ORPHA:40923
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Delayed CNS myelination, Chorea, Delayed myelination, Dysmetria, Athetosis, D...	OMIM:615273
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly,...	OMIM:618820
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension	OMIM:611489
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Chordee, Failure to thrive, Agenesis of...	OMIM:151050
Myhre Syndrome	Hypertension, Hearing impairment	ORPHA:2588
Ochoa Syndrome	Hypertension	ORPHA:2704
Glutaric Aciduria Iii	Hypertension	OMIM:231690
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Biotinidase Deficiency	Ataxia, Optic atrophy, Optic neuropathy, Spastic paraparesis	ORPHA:79241
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Progressive neurologic deterioration, Unsteady g...	ORPHA:90324
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Dysmetria, Gait ataxia, Hypertension, Dysdiadochokinesis, Low-set ears, ...	OMIM:606721
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Telangiectasia of the skin, Focal-onset seizure, Schwannoma, Renovascu...	ORPHA:97685
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Keutel Syndrome	Calcification of the auricular cartilage, Hypertension, Seizure, Pulmonic stenosis, Recurrent oti...	OMIM:245150
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Spina bifida, Optic atrophy, Overfolded helix...	ORPHA:567
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Abnormal antihelix morphology, Hypertension, Microtia, Small earlobe, ...	ORPHA:2036
Porphyria, Acute Intermittent	Hypertension, Tachycardia, Seizure	OMIM:176000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Denys-Drash Syndrome	Hypertension	ORPHA:220
Bartter Syndrome Type 4	Hypertension, Bilateral sensorineural hearing impairment, Hypotonia, Protruding ear	ORPHA:89938
Acute Interstitial Pneumonia	Hypertension	ORPHA:79126
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Vertigo, Hypovolemia, Elevated diastolic blood pressure, ...	ORPHA:90041
Friedreich Ataxia 2	Impaired vibratory sensation, Ataxia, Abnormality of peripheral nerve conduction	OMIM:601992
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Partial agenesis of the corpus callo...	OMIM:210710
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Lipodystrophy, Familial Partial, Type 5	Hypertension	OMIM:615238
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Dural ecta...	ORPHA:91387
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Prader-Willi Syndrome	Hypertension, Seizure, Hypotonia	ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i...	ORPHA:642
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Cranial nerve compression, Pancreatic endocrine tumor, Insuli...	ORPHA:652
Oculodentodigital Dysplasia	Ataxia, Optic atrophy, Gait disturbance, Spastic paraparesis, Spasticity	ORPHA:2710
Alkaptonuria	Hearing abnormality, Hypertension, Myocardial infarction	ORPHA:56
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Failure to thrive, Delayed peripheral myelination, Microcephaly	ORPHA:364577
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hypertension, Congestive heart failure	ORPHA:85450
Say-Barber-Miller Syndrome	Cryptorchidism, Babinski sign, Optic atrophy, Ankle clonus, Lower limb hypertonia, Hypogonadism, ...	ORPHA:3132
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Generalized Arterial Calcification Of Infancy	Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Transient i...	ORPHA:51608
Williams-Beuren Syndrome	Portal hypertension, Sensorineural hearing impairment, Hypotonia, Chiari type I malformation, Lar...	OMIM:194050
Monosomy 18Q	Bilateral cryptorchidism, Poor coordination, Choreoathetosis, Abnormal myelination	ORPHA:1600
Frasier Syndrome	Hypertension	ORPHA:347
Split Cord Malformation	Paraparesis	ORPHA:573278
Zttk Syndrome	Failure to thrive, Dysplastic corpus callosum, Optic atrophy, Abnormal cerebral white matter morp...	OMIM:617140
Hyperaldosteronism, Familial, Type I	Hypertension	OMIM:103900
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Tuberous Sclerosis Complex	Epileptic spasm, Infantile spasms, Pancreatic endocrine tumor, Focal-onset seizure, Hypertension,...	ORPHA:805
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension	OMIM:615954
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension	OMIM:613095
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Renal Hypoplasia, Bilateral	Hypertension	ORPHA:97362
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Myocardial infarction	OMIM:618620
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension, Neuroendocrine neoplasm	ORPHA:189427
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, ...	ORPHA:500150
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Adrenocortical Carcinoma	Hypertension, Palpitations	ORPHA:1501
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi...	ORPHA:220393
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Neuroma, Pheoch...	ORPHA:653
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Paraganglioma, Arrhythmia	ORPHA:139411
Liddle Syndrome 2	Hypertension	OMIM:618114
Pituitary Adenoma 4, Acth-Secreting	Hypertension	OMIM:219090
Liddle Syndrome 3	Hypertension	OMIM:618126
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Optic nerve compression	ORPHA:199244
Liddle Syndrome 1	Hypertension	OMIM:177200
Neurofibromatosis, Type I	Spina bifida, Neurofibroma, Hypertension, Seizure, Pheochromocytoma, Plexiform neurofibroma, Spin...	OMIM:162200
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel...	OMIM:600376
Hardikar Syndrome	Portal hypertension, Hematemesis, Vertigo, Hypertension, Mild hearing impairment	OMIM:301068
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Seizure	OMIM:235400
Cranioectodermal Dysplasia 2	Hypertension, Low-set ears, Simple ear	OMIM:613610
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171300
Cog1-Cdg	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Temporal cortical atrophy, Micro...	ORPHA:263508
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension	OMIM:610489
Primrose Syndrome	Calcification of the auricular cartilage, Ataxia, Hypotonia, Superiorly displaced ears, Seizure, ...	OMIM:259050
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Postinfectious Vasculitis	Cerebral vasculitis, Abnormality of the peripheral nervous system, Raynaud phenomenon, Cardiomyop...	ORPHA:48435
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Igg4-Related Retroperitoneal Fibrosis	Budd-Chiari syndrome, Hypertension, Renovascular hypertension, Large vessel vasculitis	ORPHA:49041
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra...	ORPHA:363618
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Hyperaldosteronism, Familial, Type Iii	Hypertension	OMIM:613677
Acquired Generalized Lipodystrophy	Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension	ORPHA:79086
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Apparent Mineralocorticoid Excess	Hypertension	ORPHA:320
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction	OMIM:208000
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Spastic paraparesis	OMIM:619234
Witteveen-Kolk Syndrome	Delayed CNS myelination, Hyperactivity, Unilateral cryptorchidism, Small for gestational age, Mic...	OMIM:613406
Rat-Bite Fever	Diminished movement, Myocarditis, Pericarditis	ORPHA:31205
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Myocardial infarction, External ear malformation, Hypertension, Low-set ea...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Myocardial infarction, External ear malformation, Hypertension, Low-set ea...	ORPHA:99228
Monosomy X	Prolonged QT interval, Myocardial infarction, External ear malformation, Hypertension, Low-set ea...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Myocardial infarction, External ear malformation, Hypertension, Low-set ea...	ORPHA:881
Thyrotoxic Periodic Paralysis	Abnormality of peripheral nerve conduction	ORPHA:79102
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Seckel Syndrome 10	Hypertension, Congestive heart failure	OMIM:617253
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Hypertension, Portal hypertension	OMIM:263200
Pierson Syndrome	Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypotonia, Hypertension, Posterior l...	OMIM:609049
Blau Syndrome	Pericarditis, Facial palsy, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertensio...	ORPHA:90340
Adams-Oliver Syndrome 1	Hypotonia, Hypertension, Seizure, Generalized hypotonia, Pulmonic stenosis, Pulmonary arterial hy...	OMIM:100300
Acromegaly	Hypertension, Mitral regurgitation, Macrotia, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Hypertension, Mitral regurgitation, Macrotia, Hypertrophic cardiomyopathy	ORPHA:314769
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension	OMIM:612926
Autosomal Recessive Polycystic Kidney Disease	Portal hypertension, Hypertension, Gastrointestinal hemorrhage, Low-set ears	ORPHA:731
Renal Hypoplasia	Hypertension	ORPHA:93101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Corpus Callosum Agenesis-Neuronopathy Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Low Phospholipid-Associated Cholelithiasis	Hypertension	ORPHA:69663
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Seizure, Myocardial infarction	ORPHA:90038
Cushing Disease	Hypertension, Capillary fragility, Optic nerve compression, Myocardial infarction	ORPHA:96253
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	ORPHA:90793
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertension, Seizure, Hypertensive crisis	ORPHA:544482
Arteriosclerosis, Severe Juvenile	Hypertension, Myocardial infarction	OMIM:208060
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Nephronophthisis 1	Hypertension	OMIM:256100
Lipodystrophy, Familial Partial, Type 2	Hypertension, Enlarged peripheral nerve	OMIM:151660
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertension, Pulmonary venous hypertension, Epistaxis, Hypoglycemic seizures	ORPHA:79259
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Microcephaly, Cryptorchidism, Hydrocele testis, Chordee, Attention ...	OMIM:619522
Posterior Urethral Valve	Hypertension	ORPHA:93110
Glycogen Storage Disease Ia	Hypertension	OMIM:232200
Autosomal Dominant Polycystic Kidney Disease	Hypertension	ORPHA:730
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Pulmonary embolism	ORPHA:567546
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension, Chiari malformation, Low-set ears, Conductive hearing impairment, Simple ear	OMIM:201750
Glycogen Storage Disease Ib	Hypertension	OMIM:232220
Immunodeficiency 87 And Autoimmunity	Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp...	OMIM:619573
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Sickle Cell Disease	Hypertension	OMIM:603903
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Myocardial infarction	OMIM:615812
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Optic neuropathy, Heart murmur, Abn...	ORPHA:391665
Renal Agenesis	Hypertension	ORPHA:411709
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Paresthesia	ORPHA:285
Atypical Werner Syndrome	Hypertension, Aortic valve stenosis, Telangiectasia of the skin, Congestive heart failure	ORPHA:79474
Denys-Drash Syndrome	Hypertension	OMIM:194080
Systemic Lupus Erythematosus	Raynaud phenomenon, Hypertension, Seizure	ORPHA:536
Glycogen Storage Disease Ic	Hypertension, Pulmonary arterial hypertension, Spider hemangioma	OMIM:232240
Cushing Syndrome Due To Ectopic Acth Secretion	Myocardial infarction, Pancreatic endocrine tumor, Pulmonary carcinoid tumor, Hypertension, Capil...	ORPHA:99889
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Vertigo, Aplasia/Hypoplasia of the earlobe...	ORPHA:286
Alström Syndrome	Abnormal vestibular function, Optic disc pallor, Ataxia, Portal hypertension, Congestive heart fa...	ORPHA:64
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension	OMIM:202010
Generalized Glucocorticoid Resistance Syndrome	Hypertension	ORPHA:786
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Degcags Syndrome	Cryptorchidism, Chordee, Vocal cord paralysis, Abnormal myelination	OMIM:619488
Renal Dysplasia	Hypertension	ORPHA:93108
Paroxysmal Nocturnal Hemoglobinuria	Hypertension, Budd-Chiari syndrome, Myocardial infarction, Pulmonary embolism	ORPHA:447
Carney Complex	Hypertension, Schwannoma, Congestive heart failure	ORPHA:1359
Microphthalmia, Syndromic 2	Cryptorchidism, Spastic paraparesis	OMIM:300166
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Abnormal myelination	ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc12a6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc12a6.

No publications found that use IMPC mice or data for Slc12a6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slc12a6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Slc12a6^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc12a6^{tm181224(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc12a6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Slc12a6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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