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Gene: Atp8a2 MGI:1354710

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating glucose level Atp8a2em1(IMPC)J HET Early adult 9.54×10-05

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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

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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Auditory Brain Stem Response

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

8 Images

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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, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy OMIM:615268
Dysequilibrium Syndrome
Ataxia, Gait disturbance, Cerebral palsy ORPHA:1766

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation, Axonal loss OMIM:212890
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Progressive gait ataxia, Demyelinating sensory neuropathy, Acroparesthesia, Symmetrical progressi... ORPHA:208981
Spinocerebellar Ataxia Type 4
Motor axonal neuropathy, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioce... ORPHA:98765
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Steppage gait OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Gait ataxia, Onion bulb formation, Paresthesia, Hypertrophic nerve changes, Decreased motor nerve... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Abnormal nerve conduction velocity, Paresthesia, Falls, Motor conduc... ORPHA:2932
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Axonal degeneration... OMIM:606482
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Elevated circulating creatine kinase concentration... OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Periph... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Null Syndrome
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Inability to walk, Op... ORPHA:280234
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypert... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Difficulty walking, Steppage gait, Axon... OMIM:606483
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired distal vibration sensation, Onion bulb formation, Hand tremor, Babinski sign, Impaired p... OMIM:618279
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ... OMIM:162500
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation, Dysesthesia, Unsteady gait ORPHA:98916
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination/r... OMIM:607791
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration, Impaired pain sensation, Steppage gait, Impaired vibra... OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... OMIM:607677
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Atonic-Astatic Syndrome Of Foerster
Ataxia, Abasia, Inability to walk 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, Axonal loss, Decreased motor nerve conduction velocity, Gait disturbance, P... OMIM:611228
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607731
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Decreased number of peripheral myelinated nerve fibers, Impair... OMIM:607080
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Steppage gait, Decreased number of large peripheral myelinated nerve fibers... OMIM:608340
Megalencephaly With Dysmyelination
Spasticity, Cerebral dysmyelination, Ataxia OMIM:249240
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Motor conduction block, Diffuse peripheral demyelination, Axonal los... ORPHA:206594
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... OMIM:610100
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Cavitating leukodystrophy, Ataxia OMIM:619061
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Spastic ataxia, Ataxia ORPHA:1182
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystrophy... OMIM:614561
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Spinocerebellar Ataxia Type 43
Gait ataxia, Limb ataxia, Peripheral axonal neuropathy, Cogwheel rigidity, Unsteady gait, Decreas... ORPHA:497764
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Spastic p... OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:609311
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Impaired tactile sensatio... ORPHA:101097
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Gait disturbance, Peripheral demyelination, Decreased nerve conduction... ORPHA:99944
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia, Unsteady gait, Gait ataxia... OMIM:614877
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating ... ORPHA:99953
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Amyotrophic lateral sclerosis, Dysphagia, Athetosis, Dystonia OMIM:300857
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Spastic ataxia, Dysdiadochokinesis, Babinski sign OMIM:108650
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Hand tremor, Babinski sign, L... ORPHA:401840
Monomelic Amyotrophy
Fasciculations, Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn... ORPHA:65684
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Difficulty walking, Ataxia, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Gait disturbance, Distal sensory impairment, Segmental perip... OMIM:311070
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment OMIM:617018
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Impaired distal vibration sensation, Resting tremor, Postural tremor, Wr... OMIM:128230
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Babinski sign, Tremor, Peripheral axonal neuropathy OMIM:611105
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, CNS demyelination, Babinski sign, Spastic tetraparesis, Decreased nerve conduction v... OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Optic a... OMIM:609260
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Chronic axonal neuropathy, Ataxia OMIM:260970
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Babinski sign, Abnormal lowe... OMIM:602433
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Impaired distal vibration sensation, Spasticity, Spastic gait, Demyelinating peripheral neuropath... OMIM:619742
Spastic Paraplegia 55, Autosomal Recessive
Impaired distal vibration sensation, Onion bulb formation, Optic atrophy, Babinski sign, Impaired... OMIM:615035
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... ORPHA:309169
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Abnormal pyramidal sign, Inability to walk, Parkinsonism, Rigidity, Abnormali... OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Tip-toe gait, Peripheral axonal degeneration, Decreased moto... OMIM:614436
Amyotrophic Lateral Sclerosis 1
Spasticity, Degeneration of anterior horn cells, Pseudobulbar paralysis, Amyotrophic lateral scle... OMIM:105400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Perip... OMIM:302800
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Methionine Adenosyltransferase I/Iii Deficiency
Hypermethioninemia, CNS demyelination, Dystonia, Peripheral demyelination OMIM:250850
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Paralysis, Peripheral hypomyelina... OMIM:605285
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Hippocampal atrophy, Tetraparesis, Amyotrophic lateral sclerosis, Caudate atrophy, Dy... OMIM:617892
Episodic Ataxia, Type 8
Slurred speech, Episodic ataxia, Intention tremor, Ataxia OMIM:616055
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia OMIM:264070
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:253550
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Steppage gait, Decreased ... OMIM:615376
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia, Ataxia OMIM:616113
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Mildly elevated creatine kinase OMIM:614369
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Tip-toe gait, Clumsiness, Slurred speech,... ORPHA:2386
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Hypoglycemia, Dystonia, Progressive cerebellar ataxia ORPHA:67046
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Distal sensory im... OMIM:615048
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia... ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:616437
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Cerebral atrophy, Hypertonia OMIM:614023
Spinocerebellar Ataxia Type 31
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor ORPHA:217012
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking ORPHA:423296
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, Peripheral demyelination OMIM:607736
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Spinocerebellar Ataxia Type 25
Gait ataxia, Spastic dysarthria, Babinski sign, Impaired distal tactile sensation, Impaired pain ... ORPHA:101111
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Dysphagia,... OMIM:618093
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:604563
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Demyelinating sensory ne... OMIM:618387
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Amyotrophic Lateral Sclerosis 18
Dysphagia, Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Impaired pain sensation, I... DECIPHER:29
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Spinocerebellar Ataxia 41
Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Gait disturbance, Decreased nerve conduction velocity, Distal ... OMIM:601455
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Sensory axonal neuropathy OMIM:612437
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Babinski sign, Amyotrophic lateral sclerosis, Dysphagia, Disinhibition OMIM:612069
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor, Peripheral axonal neuropathy OMIM:615957
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Hypertonia, Dysphagia, Arm dystonia, Spasticity, Spastic diplegia, Spastic tetrapa... OMIM:205100
Amyotrophic Lateral Sclerosis 23
Dysphagia, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia, Babinski sign OMIM:617584
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, C... OMIM:105500
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Inability to walk, ... OMIM:618184
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Hypoglycemia, Leucine-Induced
Spasticity, Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops, Distal sensory i... OMIM:601382
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination, Ataxia OMIM:200100
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic gait, Abnormal myelination, Ba... ORPHA:401820
Saccharopinuria
Gait ataxia, Hyperlysinemia, Hyperlysinuria, Spastic diplegia, Citrullinuria, Abnormality of circ... ORPHA:3124
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia ORPHA:94122
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Myoclonus, Tremor, Frequent falls, Dysphagia, Tongue fascicu... OMIM:159950
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Segmental peripheral demyelination, Peripheral axonal degeneration, Decrease... OMIM:601596
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Dysphagia,... OMIM:619565
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hand tremor, Hyperinsulinemic hypoglycemia, ... ORPHA:79299
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Peripheral axonal degeneration, Oculomo... OMIM:208920
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Spinocerebellar Ataxia 23
Gait ataxia, Impaired vibration sensation in the lower limbs, CNS demyelination, Limb ataxia, Bab... OMIM:610245
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Cerebellar Ataxia, Cayman Type
Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait OMIM:601238
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Limb fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:253400
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal... ORPHA:276435
Choroideremia
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... OMIM:303100
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Abnormal pyramidal sign, Babinski sign, Abnormal lower motor neuron morphology, Amyot... OMIM:602099
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Autosomal Recessive Spastic Paraplegia Type 57
Spasticity, Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk, Abnorma... ORPHA:431329
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating threonine concentration, Abnormal circulating arginine concentration, Myoclo... ORPHA:79096
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s... OMIM:105550
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Chorea, Dysphagia, Opisthotonus, Spastic diplegia, Parkinsonism, Upper limb spastici... ORPHA:300605
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Decreased mo... OMIM:600882
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Ankle clonus, Babinski sign, Abnormal lower motor neuron morphology, Tetraparesis, Am... OMIM:613954
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... ORPHA:363710
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Sensory axonal neu... OMIM:607458
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb spasticity OMIM:614373
Frontotemporal Dementia
Parkinsonism, Neuronal loss in central nervous system, Polyphagia, Amyotrophic lateral sclerosis,... OMIM:600274
X-Linked Charcot-Marie-Tooth Disease Type 6
Impaired vibration sensation in the lower limbs, Hand tremor, Elevated circulating creatine kinas... ORPHA:352675
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... OMIM:607684
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Leukodystrophy, Hypoglycemia, Increased serum pyruvate, Clonus, Athetosis OMIM:266150
Mitochondrial Complex I Deficiency, Nuclear Type 19
Delayed myelination, Inability to walk, Optic atrophy, Rigidity, Myoclonus, Gait disturbance, Hyp... OMIM:618241
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Myoclonus, Cachexia, Ata... ORPHA:97229
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Adult Krabbe Disease
Hoffmann sign, Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Peripher... ORPHA:206448
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Amyotrophic Lateral Sclerosis 8
Abnormal pyramidal sign, Postural tremor, Neuronal loss in central nervous system, Amyotrophic la... OMIM:608627
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto... OMIM:605407
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia OMIM:261630
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Amyotrophic Lateral Sclerosis 9
Spasticity, Amyotrophic lateral sclerosis OMIM:611895
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Abnormal glucose homeostasis, Inability to walk, Elevated circulatin... ORPHA:90117
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Frontotemporal cerebral atrophy, Parkinsonism, Diffuse cerebral atrophy, Ab... ORPHA:412066
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Spastic Ataxia, Charlevoix-Saguenay Type
Impaired vibration sensation in the lower limbs, Spasticity, Onion bulb formation, Spastic ataxia... OMIM:270550
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Paraplegia, Peripheral demyelination ORPHA:71211
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy OMIM:615268
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Intention tremor, Babinski sign, Action tremor, F... ORPHA:314978
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Short stature, Peripheral axonal degeneration, Decreased motor nerve conduction velocity,... OMIM:604168
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration,... ORPHA:210128
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations OMIM:183050
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic dysarthria, Abnormal myelinati... ORPHA:401830
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Charcot-Marie-Tooth Disease Type 4A
Poor fine motor coordination, Impaired distal vibration sensation, Chronic axonal neuropathy, Mot... ORPHA:99948
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Spastic gait, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Peripheral axon... OMIM:610357
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... OMIM:614018
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Spinocerebellar Ataxia Type 20
Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax... ORPHA:101110
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired vibration sensation in the lower limbs, Peripheral demyelination, Optic atrophy, Positiv... OMIM:609033
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Spastic dysarthria, Babinski sign, Spastic tetraparesis, Dysphagia, Abnormal upper ... OMIM:611637
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Decreased motor nerve ... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Tongue atrophy, Gait disturbance, Steppage gait, Distal sensory impairment OMIM:616155
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Tremor by anatomical site, Abnormal pyramidal sign, Postural tremor... ORPHA:98762
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Onion bulb formation, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclon... OMIM:614487
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... OMIM:612716
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Metachromatic Leukodystrophy
Chorea, Spastic tetraplegia, Optic atrophy, Gait disturbance, Ataxia, Babinski sign, Decreased ne... OMIM:250100
Spinocerebellar Ataxia 46
Gait ataxia, Limb ataxia, Positive Romberg sign, Dysmetria, Sensory axonal neuropathy OMIM:617770
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Degeneration of anterior horn cells, Hand tremor, Limb ataxia, Ataxia,... OMIM:607596
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 29
Generalized dystonia, Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Cerebellar ... OMIM:619389
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Huntington Disease-Like 2
Chorea, Cerebral cortical atrophy, Weight loss, Parkinsonism, Caudate atrophy, Involuntary moveme... ORPHA:98934
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigmentary r... OMIM:610951
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria... OMIM:617916
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Paresthesia, Abnormality of peripheral nerve conduction, Motor axonal ne... ORPHA:48431
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Inability to walk, Decreased motor nerve conduction velocity, Demyel... ORPHA:101077
Roussy-Lévy Syndrome
Gait ataxia, Somatic sensory dysfunction, Acute demyelinating polyneuropathy, Postural tremor, De... ORPHA:3115
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia OMIM:604432
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Tremor ORPHA:101075
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Impaired vibration sensation at ankles, Abnormality of peripheral nerve conduction, ... ORPHA:90103
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor, Optic atrophy OMIM:165300
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor OMIM:302500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia... ORPHA:216873
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Machado-Joseph Disease Type 3
Spasticity, Abnormal pyramidal sign, Degeneration of anterior horn cells, Progressive gait ataxia... ORPHA:276244
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity ORPHA:101078
Myopathy, spheroid body
Waddling gait, Tremor, Broad-based gait, Elevated circulating creatine kinase concentration OMIM:182920
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... ORPHA:98763
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... OMIM:213600
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Parkinsonism, Ataxia, Babinski sign, Amyotrophic lateral sclerosis, Dy... OMIM:615911
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, ... OMIM:615284
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... OMIM:615924
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Palatal tremor, Cachexia, Ataxia, Failure to thrive, Dysphag... ORPHA:363717
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Gait ataxia, Unsteady gait, Delayed myelination, Recurrent hypoglycemia OMIM:618158
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Abnormal pyramidal sign, Falls, Resting tremor, Spastic tetraplegia, Parkinsonism, I... OMIM:617225
Spastic Paraplegia 76, Autosomal Recessive
Gait ataxia, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Sensory axonal neuropathy, Dif... OMIM:616907
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Pontocerebellar Hypoplasia Type 1
Spasticity, Cerebral cortical atrophy, Optic atrophy, Degeneration of anterior horn cells, Ataxia... ORPHA:2254
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction v... ORPHA:88628
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Axonal loss, Progressive gait ataxia, Clumsiness, Spastic dysarthria, Limb at... ORPHA:1175
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Exaggerated star... ORPHA:320406
Neuroectodermal Melanolysosomal Disease
Spasticity, Cerebral cortical atrophy, Subcortical cerebral atrophy, Optic atrophy, Premature gra... ORPHA:33445
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Hand tremor, Tongue fascicu... OMIM:162400
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss, Elevated circulating creatine kinase concentration, Steppage g... OMIM:614455
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Unsteady gait, Myoclonus, Hypertonia OMIM:610090
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve conduction velocity, Peri... ORPHA:101082
Usher Syndrome, Type Iiib
Truncal ataxia, Optic disc pallor, Ataxia OMIM:614504
Christianson Syndrome
Gait ataxia, Cerebral cortical atrophy, Truncal ataxia, Cachexia, Neuronal loss in central nervou... ORPHA:85278
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Spastic Ataxia 4, Autosomal Recessive
Gait ataxia, Spastic ataxia, Optic atrophy, Limb ataxia, Babinski sign, Spastic paraparesis, Uppe... OMIM:613672
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Leukodystrophy, Hypomyelinating, 5
Abnormal pyramidal sign, Onion bulb formation, Decreased motor nerve conduction velocity, Leukody... OMIM:610532
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... ORPHA:454887
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Decreased number of peripheral myelinated nerve ... OMIM:604360
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Axonal loss, Apraxia, Myoclonus, Gait disturbance, Babinski sign, Peripheral demyelin... OMIM:221770
Proximal Myopathy With Extrapyramidal Signs
Chorea, Resting tremor, Optic atrophy, Ataxia, Mildly elevated creatine kinase, Progressive extra... ORPHA:401768
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, L... ORPHA:521406
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Rod-cone dystrophy, Generalized dystonia, Spasticity, Weight loss, Attention ... ORPHA:216866
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:613428
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... OMIM:619405
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Krabbe Disease
Peripheral demyelination, Optic atrophy, Progressive spasticity, CNS demyelination, Decreased ner... OMIM:245200
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Gait ataxia, Short stature, Demyelinating peripheral neuropathy, Babinski sign, Atrophy of the sp... ORPHA:445062
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Leukodystrophy, Hypomyelinating, 11
Spasticity, Leukodystrophy, Myoclonus, Ataxia, Tremor, CNS hypomyelination OMIM:616494
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Spasticity, Ataxia, Hypertyrosinemia, Hypoglycemia, Delayed CNS myelination, Recur... OMIM:124000
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:271150
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Axial dystonia, Head tremor, Action tremor, Progress... OMIM:604326
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Delayed CNS myelination, Tremor, Ataxia OMIM:616421
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Dysphagia, Writer's cramp, Torticollis, Babinski sign, Torsion... OMIM:128100
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Abolished vibration sense, Oculomotor apr... OMIM:608703
Hsd10 Mitochondrial Disease
Spasticity, Spastic tetraplegia, Optic atrophy, Elevated circulating tiglylglycine concentration,... OMIM:300438
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Amyotrophic Lateral Sclerosis
Spasticity, Motor neuron atrophy, Paralysis, Agitation, Amyotrophic lateral sclerosis, Neurodegen... ORPHA:803
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia ORPHA:67047
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Peripheral axonal neuropathy OMIM:610743
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... ORPHA:101109
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Gait disturbance, Limb ataxia, Sensory axonal... ORPHA:98764
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Dystonia, Increased serum pyruvate, Ataxia OMIM:246900
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... OMIM:600363
Trigeminal Neuralgia
Somatic sensory dysfunction, Paresthesia, Cranial nerve compression, CNS demyelination, Periphera... ORPHA:221091
Cataract-Ataxia-Deafness Syndrome
Tremor, Decreased nerve conduction velocity, Ataxia, Hypertonia ORPHA:1368
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Elevated circulating guanidinoacetic acid concentration, Decrea... OMIM:612736
Spinocerebellar Ataxia 49
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... OMIM:619806
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... OMIM:620102
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Dysp... ORPHA:247604
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Dysequilibrium Syndrome
Ataxia, Gait disturbance, Cerebral palsy ORPHA:1766
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... OMIM:164500
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Spasticity of facial muscles, Spastic gait, Appendicular spasticity, S... OMIM:606353
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... ORPHA:98811
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Ataxia, Tremor, ... OMIM:261640
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Falls, Rigidity, Short stepped shuffling gait, Brad... ORPHA:306692
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Glutaric Acidemia I
Delayed myelination, Spastic diplegia, Rigidity, Choreoathetosis, Hypoglycemia, Elevated circulat... OMIM:231670
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Gait disturbance, Ataxia, Impaire... ORPHA:99014
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Brain atrophy, Cranial nerve compression, Motor axonal neuropathy, Abnormal motor neuron morpholo... ORPHA:52430
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubin... OMIM:617156
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Leukodystrophy, Ataxia, Babinski sign, Symmetric peripheral d... OMIM:169500
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Hsd10 Disease
Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Spastic paraparesi... ORPHA:391417
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration, Waddling gait OMIM:618138
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb... ORPHA:254343
Mehmo Syndrome
Gait ataxia, Spasticity, Inability to walk, Babinski sign, Spastic tetraparesis, Hypoglycemia, Di... OMIM:300148
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Leukodystrophy, Ataxia, Babinski sign, Dysmetria, Delayed CNS myelination, Head ti... OMIM:618688
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Abnormal posturing, Cerebral cortical atrophy, Chorea,... ORPHA:157941
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Inability to walk, Hand tremor, Limb ataxi... ORPHA:101085
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Diencephalic Syndrome
Cachexia, Decreased body weight, Optic atrophy ORPHA:1672
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Cerebral cortical atrophy, Hyperactivity, Optic atrophy, Frontal upsweep of hair, Ata... OMIM:300983
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hyperkinetic movements... OMIM:233910
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Small for gestational age, D... OMIM:604320
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:600852
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Diaphragmatic paralysis, Peripheral axonal neuropathy, Craniofacial dystonia, Frequent falls, Axo... OMIM:620011
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Cerebellar vermis atrophy, Weight loss, Rigidity, Myoclonus, ... ORPHA:248111
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Akinesia, Resting tremor, Inability to walk... ORPHA:391411
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Ataxia ORPHA:1186
Behr Syndrome
Optic atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babinski sign, D... OMIM:210000
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Abnormal s... ORPHA:139578
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Failure to thrive, Axonal degeneration, Clonus OMIM:618811
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Clumsiness, Decreased number of large peripheral myelinated nerve fibers, Ataxia, ... OMIM:271245
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Tyrosinemia, Type Ii
Hypertyrosinemia OMIM:276600
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Spastic tetraplegia, Limb hypertonia, Optic atrophy, Ataxia, Dysmetria, Tremor, Hypoglycemia, Del... OMIM:617710
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Agitation, Failure to thrive, Tremor, Dystonia OMIM:619651
Primary Lateral Sclerosis
Progressive spastic paraparesis, Spasticity, Motor axonal neuropathy, Spastic gait, Spastic dysar... ORPHA:35689
Achromatopsia
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Tongue fasciculations, Degene... OMIM:301830
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Lower limb spasticity, Impa... ORPHA:100988
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Impaired vibration sensation in the lower limbs, Spastic ataxia, Op... ORPHA:137898
Pelizaeus-Merzbacher Disease
Spasticity, Cerebral cortical atrophy, Optic atrophy, Cachexia, Choreoathetosis, Ataxia, Dystonia... ORPHA:702
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Tyrosinemia, Type Iii
Hypertyrosinemia OMIM:276710
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 26
Gait ataxia, Impaired distal vibration sensation, Dysdiadochokinesis, Oculomotor apraxia, Limb at... OMIM:617633
Pontocerebellar Hypoplasia, Type 2D
Chorea, Cerebellar vermis atrophy, Delayed myelination, Spastic tetraplegia, Appendicular spastic... OMIM:613811
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Progressive spastic paraplegia, Basal lamina onion bulb formation, Demyelinating peripheral neuro... ORPHA:2821
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Rigidity, Decreased motor nerve conduction velocity, Gait disturbanc... OMIM:603472
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Dysdiadochokinesis, Optic atrophy, Demyelinating peripheral neuropathy, Babinski sig... ORPHA:504476
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Leukodystrophy, Hypomyelinating, 6
Spasticity, Optic atrophy, Rigidity, Oculomotor apraxia, Cerebral hypomyelination, Choreoathetosi... OMIM:612438
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Tangier Disease
Facial diplegia, Impaired pain sensation, Decreased HDL cholesterol concentration, Impaired tempe... OMIM:205400
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Autosomal Recessive Spastic Paraplegia Type 35
Ankle clonus, Dysdiadochokinesis, Optic atrophy, Oculomotor apraxia, Spastic paraplegia, Babinski... ORPHA:171629
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Paresthesia, Limb ataxia, Impaired pain sensation, Tremor, Frequent fall... OMIM:616719
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hypertyrosinemia, Hypog... OMIM:276700
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking OMIM:613608
Essential Fructosuria
Hyperglycemia ORPHA:2056
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... OMIM:618049
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... OMIM:618195
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Autosomal Dominant Spastic Paraplegia Type 8
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Up... ORPHA:100989
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Spasticity, Retinopathy, Optic atrophy, Dystonia, Optic neuropathy, Cerebel... OMIM:616811
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... OMIM:304020
Tyrosinosis
Hypertyrosinemia OMIM:276800
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Intention tremor OMIM:266130
Huntington Disease
Poor fine motor coordination, Choking episodes, Babinski sign, Alcoholism, Bradykinesia, Weight l... ORPHA:399
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... OMIM:618697
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Spasticity, Inability to walk, Optic atrophy, Abnormality of extrapyramidal motor function, Hypog... OMIM:614739
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Delayed myelination, Myoclonic spasms, Poor coordination, Diffuse cerebella... ORPHA:478029
Pyruvate Dehydrogenase E3 Deficiency
Spasticity, Decreased plasma carnitine, Elevated plasma branched chain amino acids, Ataxia, Hypog... ORPHA:2394
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Spastic gait, At... OMIM:616795
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Spinocerebellar Ataxia, Autosomal Recessive 18
Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, Incoordination, Ataxia, Babi... OMIM:616204
Glutathionuria
Dysdiadochokinesis, Tremor, Action tremor, Glutathionuria OMIM:231950