Gene Summary

Name:
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
Synonyms:
Ib,  agil,  wl

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Atp8a2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Atp8a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Dysequilibrium Syndrome
Cerebral palsy, Gait disturbance, Ataxia ORPHA:1766

The table below shows human diseases predicted to be associated to Atp8a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation OMIM:147530
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation OMIM:212890
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... ORPHA:208981
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Spinocerebellar Ataxia Type 4
Impaired proprioception, Gait disturbance, Motor axonal neuropathy, Sensory axonal neuropathy, At... ORPHA:98765
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia OMIM:165200
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Babinski sign, Positive Romberg sign, Gait instability, worse in the dark OMIM:608984
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Onion bulb formation, Distal sensory impairment, Axonal regeneration OMIM:615185
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Paresthesia, Segmental peripheral demyelination/remyelination, Peripheral... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... OMIM:606483
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Steppage gait, Onion bulb formation, Difficulty walking, Frequent falls OMIM:618279
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis ORPHA:231445
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Episodic ataxia OMIM:168885
Optic Atrophy 2
Tremor, Optic atrophy, Dysdiadochokinesis, Babinski sign OMIM:311050
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:180800
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Pallor of dorsal ... OMIM:602433
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Segmental peripheral demyelination/remyelination, Axonal degeneration/... OMIM:607791
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... OMIM:607677
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Abasia OMIM:209100
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Gait disturbance, Decreased motor nerve conduction velocity, Axonal loss, F... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... OMIM:607731
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Steppage gait... OMIM:608340
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Cavitating leukodystrophy OMIM:619061
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Unsteady gait, Onion bulb formation, Dysesthesia, Acute demyelinating polyneuropathy ORPHA:98916
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large peripheral mye... OMIM:608673
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Motor conduction block,... ORPHA:206594
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... ORPHA:497764
Megalencephaly With Dysmyelination
Ataxia, Cerebral dysmyelination, Spasticity OMIM:249240
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Optic atrophy OMIM:136600
Spastic Ataxia With Congenital Miosis
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Hypertonia, Spasticity, Rigidity ORPHA:2672
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor,... OMIM:614561
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Hypertrophic nerv... OMIM:118200
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Impaired distal proprioception, Frequent falls, Loss... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Perip... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Axonal loss, Peripheral demyelination, Ataxia, Difficulty walking OMIM:616684
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Gait disturbance, Peripheral demyelination, Decreased nerve conduction... ORPHA:99944
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Hypertrophic nerv... OMIM:118220
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelin... OMIM:605285
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Gait imbalance, Motor co... ORPHA:99953
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Gait ataxia, Peripheral axonal neuropathy OMIM:615957
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Spastic Ataxia 7, Autosomal Dominant
Babinski sign, Dysdiadochokinesis, Optic atrophy, Spastic ataxia OMIM:108650
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Fasciculations, Degeneration of anterior horn... ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Abnormal myelination, Hand tremor, Spastic gait, Lower limb spasticity, Progressiv... ORPHA:401840
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Gait disturbance, Optic atrophy, Distal sensory impairment, Segmental perip... OMIM:311070
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells OMIM:271150
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... OMIM:258650
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Distal sensory impairment, Limb ataxia, Gait ataxia OMIM:617018
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Chronic axonal neuropathy, Ataxia OMIM:260970
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Hypertrophic nerv... OMIM:145900
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity OMIM:611105
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... OMIM:249900
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Axonal loss, Rigidity, Chorea, Peripheral demyelination, Abnormality of e... OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Dysphagia, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spa... OMIM:205100
Phosphoserine Phosphatase Deficiency
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation, Cerebral atrophy OMIM:614023
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Axonal degeneration, Fasciculations, Tetraplegia, Distal sensory i... OMIM:604484
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells OMIM:253400
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Peripheral demyelination, Chorea, ... ORPHA:397946
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia OMIM:617769
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Babinski sign, Clonus, Peripheral axonal neuropathy, Optic atrophy, Steppag... OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Dysphagia, Pseudobulbar paralysis, Amyotrophic ... OMIM:105400
Spinal Muscular Atrophy, Type Ii
Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells OMIM:253550
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal sensory impairment, Decreased motor nerve conduction velocity, Decreased number of large p... OMIM:615376
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Tip-toe gait, Tetraparesis, Unsteady gait, Decreased numb... ORPHA:2386
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphol... OMIM:602099
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Distal sensory impairment, Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Distal sensory impair... OMIM:615048
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Distal sensory im... OMIM:604563
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 25
Babinski sign, Impaired pain sensation, Ataxia, Abolished vibration sense, Decreased number of pe... OMIM:608703
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Decreased motor nerve conduction velocity, Impaired temperature sensatio... DECIPHER:29
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Dysmetria, Steppage gait, Elevated circulating creatine kinase conc... OMIM:618387
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Babinski sign, Spastic paraparesis, Spastic ataxia OMIM:613672
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Leukodystrophy, Spasticity OMIM:616494
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Distal sensory impairment, Atax... ORPHA:101010
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Amyotrophic lateral sclerosis, Tongue fasciculations OMIM:613435
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Oral-phar... OMIM:159950
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinocerebellar Ataxia Type 25
Babinski sign, Impaired distal tactile sensation, Decreased number of large peripheral myelinated... ORPHA:101111
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Dysphagia, Fasciculations OMIM:614808
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia ORPHA:94122
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Mental Retardation, Autosomal Recessive 60
Short stature, Delayed puberty, Delayed myelination OMIM:617432
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Amyotrophic Lateral Sclerosis 16, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper... OMIM:614373
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Dysphagia, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Dysphagia, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology,... OMIM:616437
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Gait disturbance, Axonal loss, Decreased nerve conduction velocity, Distal ... OMIM:601455
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Dysphagia, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Cerebral cortical ... OMIM:615911
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Spasticity OMIM:240800
Alexander Disease
Diffuse demyelination of the cerebral white matter, Ataxia, Spasticity OMIM:203450
Saccharopinuria
Hypercystinemia, Cystinuria, Elevated plasma citrulline, Hyperammonemia, Citrullinuria, Tremor, S... ORPHA:3124
Abetalipoproteinemia
Ataxia, Peripheral demyelination, CNS demyelination OMIM:200100
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Abnormal myelination, Spastic gait, Limb tremor, Lower limb spasticity, Progressiv... ORPHA:401820
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Cerebellar atrophy, Dysphagia, Dysmetria, Chorea, Tremor, Ataxia, Parkin... OMIM:618093
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia 46
Dysmetria, Positive Romberg sign, Sensory axonal neuropathy, Limb ataxia, Gait ataxia OMIM:617770
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hand tremor, Hyperinsulinemic hypoglycemia, ... ORPHA:79299
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Steppage gait, Perip... OMIM:600882
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor, Sensory axonal neuropathy OMIM:612437
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating threonine concentration, Myoclonus, Abnormal circulating histi... ORPHA:79096
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Dysphagia, Amyotrophic lateral sclerosis, Stereotypy, Spasticity OMIM:612069
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Tetraplegia, Inability to walk, Delayed myelination, Cerebral atrophy OMIM:618331
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia 23
Babinski sign, CNS demyelination, Dysmetria, Tremor, Impaired vibration sensation in the lower li... OMIM:610245
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Amyotrophic Lateral Sclerosis 8
Postural tremor, Dysphagia, Neuronal loss in central nervous system, Amyotrophic lateral sclerosi... OMIM:608627
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Babinski sign, Abnormal myelination, Spastic paraplegia, Inability to walk, Spasti... ORPHA:431329
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations,... OMIM:607317
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia... OMIM:105550
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Ina... ORPHA:276435
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction OMIM:612577
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Clonus, Leukodystrophy, Ataxia, Hypertonia, Spasticity, Delayed myelination OMIM:616881
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Dysphagia, Amyotrophic lateral sclerosis, Lower limb spasticity, Fasciculations, A... OMIM:613954
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia OMIM:616113
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Elevated circulating creatine kinase concentration, Decreased nerve c... ORPHA:352675
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy, Tremor, Dysdiadocho... OMIM:607458
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia OMIM:261630
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Frontotemporal Dementia
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Polyphagia OMIM:600274
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Adult Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Babinski sign, Hoffmann sign, CNS demyelination, F... ORPHA:206448
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Elevated circulating creatine kinase concentration, Abnormal glucose homeost... ORPHA:90117
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Riboflavin Transporter Deficiency
Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Dysphagia, Myoclonus, Facial pals... ORPHA:97229
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Leukodystrophy, Intention tremor, Ataxia... OMIM:616140
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, CNS demyelination, Hyperglycemia, Peripheral demyelination, Tremor, Ataxia OMIM:220111
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Charcot-Marie-Tooth Disease, Type 4B1
Distal sensory impairment, Irregular myelin loops, Facial palsy, Decreased motor nerve conduction... OMIM:601382
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Progressive trunc... OMIM:270550
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Myoclonus, Tremor, Ataxia, Difficulty walking OMIM:614018
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Behr Syndrome
Progressive spasticity, Optic atrophy, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Peripheral demyelination, Somatic sensory dysfunction ORPHA:71211
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dysphagia, Axonal loss, Amyotrophic lateral sclerosis OMIM:300857
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hypopigmentation of the fundus, Heari... OMIM:600501
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Short s... OMIM:604168
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Urocanic Aciduria
Abnormal circulating histidine concentration, Ataxia, Truncal ataxia, Broad-based gait, Action tr... ORPHA:210128
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity, Transie... OMIM:612716
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia OMIM:615768
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, Inability to walk, Broad... OMIM:615490
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy OMIM:614307
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity ORPHA:401849
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor, Spastic dysarthria, Lower limb spasticity, Progressive spastic... ORPHA:401830
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal regener... OMIM:607831
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Decreased nerve conduction velocity, Ataxia, Spasticity OMIM:183050
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia, Hypoglycemia ORPHA:67046
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Motor conduction block, Impaired distal proprioception, Impaired d... ORPHA:99948
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Peripheral axonal neuropathy, Dysmetria, Spastic gait, Lower limb spasticity, Atax... OMIM:610357
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Retinopathy, Pigmentary retinopathy, Cerebr... OMIM:610951
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Hyperphenylalaninemia, Tremor, Ataxia, Hyperto... OMIM:261640
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Tetraparesis, Spasticit... OMIM:615924
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Dysphagia, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Abnormal upper ... OMIM:611637
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Optic atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral d... OMIM:609033
Periventricular Nodular Heterotopia 8
Attention deficit hyperactivity disorder, Spasticity, Delayed myelination OMIM:618185
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral axonal neuropathy, Tremor... ORPHA:101077
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Short stature, Dysmetria, Progressive gait ataxia,... ORPHA:284332
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Frequent f... ORPHA:3115
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Cachexia, Opisthotonus, Head titubation, Upper limb spasticity, Dysphagia, Chorea, Amyotr... ORPHA:300605
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Unsteady gait, Gait ataxia, Recurrent hypoglycemia, Delayed myelination OMIM:618158
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration OMIM:182920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Paresthesia, Dysmetria, Motor axonal neuropathy, Intention tremor, Ataxia, Abnormal... ORPHA:48431
Spinocerebellar Ataxia 35
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Leukodystrophy, Intention tremor, Hypertonia, Broad-based gait, Abnormal pyr... OMIM:617964
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Metachromatic Leukodystrophy
Dystonia, Gait disturbance, Babinski sign, Optic atrophy, Chorea, Peripheral demyelination, Decre... OMIM:250100
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia OMIM:617584
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Optic atrophy, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Orom... ORPHA:216873
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... ORPHA:98763
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Leukodystrophy, Tremor, Loss of ability to walk OMIM:615010
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Optic atrophy, Chorea, Myoclonus, Ataxia, Cran... OMIM:617282
Glutathionuria
Tremor OMIM:231950
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... ORPHA:1175
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormality of the optic nerve, Rigidity, Aplasia/Hypoplasia of the macula, Macula... ORPHA:33445
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Peripheral axonal neuropathy, Falls, Bradykinesia, Spastic tetrapleg... OMIM:617225
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination, Spasticity OMIM:617731
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Peripheral axonal neuropathy, Spastic dysarthria, Lower l... ORPHA:352641
Spastic Paraplegia 76, Autosomal Recessive
Babinski sign, Dysmetria, Lower limb spasticity, Sensory axonal neuropathy, Distal sensory impair... OMIM:616907
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Axonal loss, Peripheral demyelination, Myoclonus, Apraxia, Spast... OMIM:221770
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Peripheral axo... OMIM:608720
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Impaired distal proprioception, Impaired distal tactil... OMIM:162400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Usher Syndrome, Type Iiib
Ataxia, Optic disc pallor, Truncal ataxia OMIM:614504
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypertonia, Myoclonus, Hypoglycemia OMIM:610090
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Gait disturbance, Onion bulb formation, Decreased nerve conduction vel... OMIM:615284
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Som... ORPHA:101082
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Fasciculations, Degeneration of anterior horn cells OMIM:607596
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Krabbe Disease
Progressive spasticity, Optic atrophy, CNS demyelination, Peripheral demyelination, Decreased ner... OMIM:245200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Gastrointestinal dysmotility, Abnormality of the spina... ORPHA:88628
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Glutaric Acidemia I
Dystonia, Opisthotonus, Hypoglycemia, Rigidity, Choreoathetosis, Symmetrical progressive peripher... OMIM:231670
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Onion bulb formation, Distal sensory impairment, Axonal loss OMIM:614455
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Babinski sign, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, A... ORPHA:445062
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Optic atrophy, Dystonia, Peripheral axonal neuropathy, Progressive extrapy... ORPHA:401768
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Dystonia, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy, Tre... OMIM:612438
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Abnormality of extrapyramidal mot... ORPHA:320406
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Truncal titubatio... OMIM:610532
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atr... OMIM:619389
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia, Abnormal n... ORPHA:99014
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Progressive spastic paraplegia, Abnormal myelination, Lower limb spasticity ORPHA:401835
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, G... OMIM:608029
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Sensory axonal neuropathy, Tremor, Truncal ataxia, Akinesia, Limb ... ORPHA:98764
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity ORPHA:1368
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Trigeminal Neuralgia
Paresthesia, CNS demyelination, Peripheral demyelination, Cranial nerve compression, Somatic sens... ORPHA:221091
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Axonal loss, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Hyperactivity, Spasticity, Delayed CNS myelination OMIM:300983
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Christianson Syndrome
Cachexia, Cerebellar atrophy, Dysphagia, Neuronal loss in central nervous system, Stereotypy, Thi... ORPHA:85278
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment, Peripheral axonal neuropathy OMIM:616668
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor apraxia, Ataxia, Dysdiado... OMIM:617633
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia,... OMIM:612953
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tremor, Reactive h... ORPHA:276608
Juvenile Primary Lateral Sclerosis
Dysphagia, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Spasticity, Abnormal pyramidal... ORPHA:247604
Spinocerebellar Ataxia 7
Babinski sign, Optic atrophy, Dysphagia, Dysmetria, Chorea, Abnormality of extrapyramidal motor f... OMIM:164500
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Dysequilibrium Syndrome
Cerebral palsy, Gait disturbance, Ataxia ORPHA:1766
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Peripheral demyelination, Optic atrophy, Spastic tetraplegia OMIM:618237
Tyrosinemia, Type I
Hypoglycemia, Hypertyrosinemia, Elevated alpha-fetoprotein, Periodic paralysis, Hypermethioninemi... OMIM:276700
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... OMIM:604360
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hyperkinetic... OMIM:233910
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Spastic paraparesis, Choreoathetosis ORPHA:67047
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Motor axonal neuropathy, Cranial... ORPHA:52430
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Machado-Joseph Disease Type 3
Clumsiness, Babinski sign, Dysphagia, Cerebellar atrophy, Peripheral axonal neuropathy, Vocal cor... ORPHA:276244
Mehmo Syndrome
Babinski sign, Hypoglycemia, Spastic tetraparesis, Inability to walk, Spasticity, Gait ataxia, Di... OMIM:300148
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Hsd10 Disease
Optic atrophy, Gait disturbance, Rigidity, Abnormal urinary acylglycine profile, Choreoathetosis,... ORPHA:391417
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Optic atrophy, Hypoglycemia, Hyperalaninemia, Spasticity OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Optic atrophy, Gait disturbance, Hypoglycemia, Rigidity, Myoclonus, Inability to walk,... OMIM:618241
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal p... OMIM:617145
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Dystonia, Babinski sign, Decreased motor nerve conduction velocity, Head ... OMIM:608804
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Primary Lateral Sclerosis, Juvenile
Babinski sign, Dysphagia, Spastic gait, Spastic dysarthria, Spasticity of facial muscles, Spastic... OMIM:606353
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia OMIM:616719
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Infantile-Onset Spinocerebellar Ataxia
Ataxia, Optic atrophy ORPHA:1186
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the... ORPHA:324575
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Impaired vibration sensation at ankles, Decreased number of large peripheral myelinated nerve fib... ORPHA:90103
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Pseudobulbar paralysis, Symmetric peripheral demyelination, Leukodystrophy, Ataxia... OMIM:169500
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Peripheral axonal degeneration, Small for gestational age, Failure to th... OMIM:604320
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy OMIM:619090
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Decreased number of large peripheral myelinated nerve fiber... ORPHA:101085
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Babinski sign, Optic atrophy, Head titubation, Dysmetria, Leukodystrophy, Intention tremor, Ataxi... OMIM:618688
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Gabriele-De Vries Syndrome
Tremor, Dystonia, Waddling gait, Delayed myelination OMIM:617557
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Optic atrophy, Progressive spasticity, Peripheral axonal neuropathy, Babinski sign, I... ORPHA:137898
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Babinski sign, Dysmetria, Vestibular areflexia, Intention tremor, Progressive cere... ORPHA:504476
Autosomal Dominant Spastic Paraplegia Type 8
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, S... ORPHA:100989
Early-Onset X-Linked Optic Atrophy
Babinski sign, Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velo... ORPHA:98890
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Amyotrophic Lateral Sclerosis
Paralysis, Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis, Spasticity ORPHA:803
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor function, Br... OMIM:300894
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Hypoglycemia, Lethargy OMIM:246900
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Tyrosinemia, Type Ii
Hypertyrosinemia OMIM:276600
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... OMIM:609270
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Clonus, Axonal degeneration, Tongue fasciculations OMIM:618811
Tyrosinemia, Type Iii
Hypertyrosinemia OMIM:276710
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Optic disc pallor, Opisthotonus, Frequent falls, Weight loss, Rod-cone dystrophy, Spas... ORPHA:216866
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... ORPHA:53583
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperglycinemi... OMIM:619386
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Decreased nerve conduction velocity, Spastic tetraplegia, Myelin outfol... OMIM:609136
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity, Impaired vibratory sensa... ORPHA:100988
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Clonus, Babinski sign, Impaired pain... ORPHA:139578
Pontocerebellar Hypoplasia, Type 2D
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Cerebral atrophy, Delayed myelination OMIM:613811
Glutathione Synthetase Deficiency
Intention tremor, Pigmentary retinopathy OMIM:266130
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... OMIM:603472
Spinocerebellar Ataxia 34
Peripheral axonal neuropathy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spast... OMIM:133190
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Tongue fasciculations, Degeneration of anterior horn cells OMIM:301830
Tangier Disease
Impaired temperature sensation, Peripheral axonal neuropathy, Impaired pain sensation, Facial dip... OMIM:205400
Huntington Disease-Like 2
Involuntary movements, Caudate atrophy, Chorea, Weight loss, Parkinsonism, Cerebral cortical atrophy ORPHA:98934
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Optic disc pallor, Dysmetria, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Inco... OMIM:616204
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hype... ORPHA:254343
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Progressive spastic paraplegia, Demyelinating pe... ORPHA:2821
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Hawkinsinuria
Hypertyrosinemia OMIM:140350
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Hypoglycemia, Hyperammonemia, Ataxia, Elevated plasma branched chain amino ac... ORPHA:2394
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Tremor, Hereditary Essential, 1