| Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Axonal loss, Impaired temperature sensation, Progressive cerebellar ataxia |
OMIM:212890 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil... |
ORPHA:98765 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Distal sensory impairment |
OMIM:616039 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher... |
OMIM:620378 |
| 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 vibratory sensation, Impaired proprioception, Ataxia |
OMIM:176250 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... |
OMIM:606482 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... |
OMIM:160120 |
| Spastic Paraplegia 72B, Autosomal Recessive |
|
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait |
OMIM:620606 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Paresthesia, Positive Romberg sign, Gait ataxia, Distal sensory impai... |
OMIM:601098 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peri... |
OMIM:614895 |
| Optic Atrophy 2 |
|
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, S... |
OMIM:606483 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Falls, Spontaneous pain sensation, Somatic sensory dysfunction, Difficulty walking, Peripheral de... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Clusters of axonal regeneration, Distal sensory impairment, Decreased number of periphera... |
OMIM:607734 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
| Null Syndrome |
|
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... |
ORPHA:280234 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... |
OMIM:607791 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... |
OMIM:615185 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... |
OMIM:607677 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Distal sensor... |
OMIM:180800 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy |
DECIPHER:59 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Cavitating leukodystrophy, Ataxia |
OMIM:619061 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Abasia, Ataxia |
OMIM:209100 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Distal sensor... |
OMIM:618279 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Axonal regeneration, Steppage gait, Distal sensory impairment, Decreased number of peripheral mye... |
OMIM:607731 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... |
OMIM:607080 |
| 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 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Segmental peripheral demyelination/remyelination, Hand paresthesia, Vocal cord para... |
OMIM:162500 |
| Megalencephaly With Dysmyelination |
|
Spasticity, Cerebral dysmyelination, Ataxia |
OMIM:249240 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia |
ORPHA:98916 |
| Spinocerebellar Ataxia Type 43 |
|
Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment, Peripheral axonal neuropa... |
ORPHA:497764 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... |
OMIM:614561 |
| Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Spasticity, Rigidity, Hypertonia, Ataxia |
ORPHA:2672 |
| Spastic Paraplegia 72A, Autosomal Dominant |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... |
OMIM:615625 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... |
ORPHA:101108 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... |
OMIM:118210 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... |
OMIM:182815 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Distal sensor... |
OMIM:214400 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Vocal cord paresis, Impaired pain sensation, Peripheral demyelinati... |
ORPHA:101097 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Steppage gait, Impaired distal tactile sensation, Onion bulb format... |
OMIM:610100 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... |
OMIM:614877 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Distal sensory impairment, Peripheral hypomyelination, Gait disturbance, Axonal loss, Frequent fa... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Distal sensory impairment, Peripheral hypomyelination, Decreased number of peripheral myelinated ... |
OMIM:609311 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Spasticity, Babinski sign, Delayed CNS myelination, Demyelinating peripheral neuropathy, ... |
OMIM:619742 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Axonal loss, Dystonia, Athetosis, Dysphagia |
OMIM:300857 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Hyperglycemia, Hyperlipidemia, Distal sensory impairment, Decreased ... |
OMIM:604484 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Transient hyperphenylalaninemia, Postural tremor, Cog... |
OMIM:128230 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Peripheral demyelination, Distal sensory impairment, Decreased number... |
OMIM:118200 |
| Spastic Ataxia 7, Autosomal Dominant |
|
Babinski sign, Spastic ataxia, Optic atrophy, Dysdiadochokinesis |
OMIM:108650 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... |
ORPHA:401840 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Axonal loss, Peripheral demyelination, Ataxia |
OMIM:616684 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, My... |
OMIM:145900 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Elevated circulating ... |
ORPHA:309169 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Distal sensory impairment, Gait disturbance, Segmental peripheral demyelination/re... |
OMIM:311070 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia |
OMIM:611105 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Chronic axonal neuropathy, Ataxia |
OMIM:260970 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul... |
ORPHA:65684 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Peripheral demyelination, Gait ... |
ORPHA:397946 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis, Impaired pain sensation, Axonal degeneration/regeneration, Decreased number o... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Distal sensory impairment, Decreased number of peripheral myelinated ... |
OMIM:118220 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Spastic paraplegia, Optic atrophy, Difficulty walking, Distal sensory impairment, Babinski sign, ... |
OMIM:615035 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Inability to walk, Chorea, Peripheral demyelination, Rigidity, Abnormality of extrapy... |
OMIM:617672 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Difficulty walking, Peripheral demyelination, Positive Romberg sign,... |
ORPHA:206594 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Gait disturbance, Distal sensory impairment |
ORPHA:99944 |
| Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar paralysis, Degeneration o... |
OMIM:105400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment |
OMIM:607736 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Axonal degeneration/regeneration, Distal sensory impairment, Tremor, D... |
OMIM:609260 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, Peripheral demyelination, Hypermethioninemia, CNS demyelination |
OMIM:250850 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia |
OMIM:264070 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Hippocampal atrophy, Caudate atrophy, Dy... |
OMIM:617892 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Dystonia, Spastic tetraparesis, Hypoglycemia, Progressive cerebellar ataxia |
ORPHA:67046 |
| Episodic Ataxia, Type 8 |
|
Ataxia, Slurred speech, Intention tremor, Episodic ataxia |
OMIM:616055 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Difficulty walking, Axonal regeneration, Onion bulb formation, Distal sensory impairment |
OMIM:608323 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur... |
OMIM:602433 |
| Spinal Muscular Atrophy, Type Ii |
|
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells |
OMIM:253550 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H... |
ORPHA:2386 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Parkinsonism, Cachexia... |
OMIM:618093 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Peripheral demyelination, Gait ataxia, Loss of ambulation, Babinski sign, CNS demyelination, Spas... |
OMIM:249900 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal sensory impairment, Mildly elevated creatine kinase, Tremor |
OMIM:614369 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal... |
OMIM:616437 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Difficulty walking, Distal sensory impairment, Elevated circulating creatine kina... |
OMIM:615048 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... |
ORPHA:95434 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... |
OMIM:605588 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... |
OMIM:302800 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Autosomal Spastic Paraplegia Type 30 |
|
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... |
ORPHA:101010 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Impaired pain sensation, Difficulty walking, Peripheral demyelinati... |
ORPHA:99953 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
| Phosphoserine Phosphatase Deficiency |
|
Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Hypertonia |
OMIM:614023 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
| Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Gait ataxia, Distal sensory impairment, Babinski sign, Impaired distal t... |
ORPHA:101111 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Fasciculations, Axonal degeneration/regeneration, Distal sensory impairment, Axonal... |
OMIM:614436 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor |
ORPHA:94122 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Peri... |
OMIM:618387 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Impaired vibratory sensation, Distal sensory impairment, Decreased number of peripheral m... |
OMIM:607250 |
| Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Gait ataxia, Ataxia |
OMIM:616410 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Spasticity, Amyotrophic lateral sclerosis, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia |
OMIM:612069 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Peripheral demyelination, Distal sensory impairment, Steppage gait, Decreased number of large per... |
OMIM:608340 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Difficulty walking, Distal sensory impairment, Peripheral hypomyelination, Paralysis, Decreased n... |
OMIM:605285 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Sensory axonal neuropathy, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:615957 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Somatic sensory dysf... |
OMIM:615376 |
| Saccharopinuria |
|
Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Distal sensory impairment, Tremor, ... |
ORPHA:3124 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:617839 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Inappropriate laughter, Disinhibition, Polyphagia, Parkinsonism, N... |
OMIM:600274 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Truncal ataxia, Babinski sign, Dysmetria, Ataxia |
OMIM:617584 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi... |
OMIM:105500 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Spasticity of facial muscles, Opisthotonus, Clonus, At... |
OMIM:205100 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... |
ORPHA:401820 |
| Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination, Ataxia |
OMIM:200100 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Difficulty walking, Distal sensory impairment, Decreased number of peripheral myelinated nerve fi... |
OMIM:604563 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Myoclonus, Tremor, Dysphagia, Facial palsy, Frequent falls, Degeneration o... |
OMIM:159950 |
| Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Park... |
OMIM:619565 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... |
OMIM:208920 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... |
OMIM:610245 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:613435 |
| 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 |
| Choroideremia |
|
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... |
OMIM:303100 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... |
OMIM:615268 |
| Spinal Muscular Atrophy, Type Iii |
|
Tongue fasciculations, Limb fasciculations, Hand tremor, Degeneration of anterior horn cells |
OMIM:253400 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion... |
OMIM:618184 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... |
OMIM:602099 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Hypoglycemia, Leucine-Induced |
|
Spasticity, Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia |
OMIM:240800 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... |
ORPHA:79299 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Arm dystonia, Amyotrophic lateral sclerosis, Chorea, Spastic diplegia, Retrocollis, Axial dystoni... |
ORPHA:300605 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Myoclonus, Abnormal circulating arginine concentration, Abnormal circulating threon... |
ORPHA:79096 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morpho... |
OMIM:105550 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Ankle clonus, Abnormal l... |
OMIM:613954 |
| Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... |
OMIM:617087 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di... |
ORPHA:363710 |
| Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Abnormality of macular pigmentation, Abnormal cranial nerve morphology... |
ORPHA:97229 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue fasciculations, Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial ne... |
OMIM:601596 |
| Spinocerebellar Ataxia 18 |
|
Sensory axonal neuropathy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadocho... |
OMIM:607458 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Lower limb spasticity, Amyotrophic lateral sclerosis |
OMIM:614373 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Phenylketonuria |
|
Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia |
ORPHA:716 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Amyotrophic Lateral Sclerosis 11 |
|
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Optic atrophy, Hypoglycemia, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait dis... |
OMIM:618241 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... |
ORPHA:97341 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Irregular myelin loops, Facial palsy, Distal sensory impairment, Myelin outfoldings |
OMIM:601382 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Peripheral axonal neur... |
OMIM:607317 |
| Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615990 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Adult Krabbe Disease |
|
Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Tetraparesis, Progres... |
ORPHA:206448 |
| Central Areolar Choroidal Dystrophy |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... |
ORPHA:75377 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Abnormal pyramidal sign, Neuronal... |
OMIM:608627 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... |
OMIM:613908 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Leukodystrophy, Increased serum pyruvate, Clonus, Hyperalaninemia, Athetosis |
OMIM:266150 |
| Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... |
OMIM:608051 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination |
OMIM:605253 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Amyotrophic Lateral Sclerosis 9 |
|
Spasticity, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Babinski sign, Abnormal myelina... |
ORPHA:431329 |
| Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Peripheral demyelination, Somatic sensory dysfunction |
ORPHA:71211 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Sensory axonal neuropathy, Inability to walk, Decreased number of large peripheral myelinated ner... |
ORPHA:98856 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination, Ataxia |
ORPHA:88637 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... |
ORPHA:276435 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o... |
OMIM:614018 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Distal sensory impairment, Gait disturbance, Impaired distal tactile sensation, Impaired distal p... |
OMIM:601455 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Optic atrophy, Gait ataxia, Intention tremor, Peripheral axonal neu... |
OMIM:620221 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Violent behavior, Chorea, Limb dystonia, Retinopathy, Tremor, Rigidity... |
ORPHA:216873 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Lower l... |
OMIM:610357 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Impaired pain sensation, Distal sensory impairment, Steppage gait, Gait disturbance, Facial palsy... |
OMIM:607684 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Ab... |
ORPHA:401830 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... |
OMIM:616948 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... |
ORPHA:276193 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Increased c... |
OMIM:617916 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... |
OMIM:610951 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Tremor, Hemiparesis |
OMIM:141500 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Cerebral cortical atrophy, Tongue fasciculations, Hand tremor, Fasciculations, Limb ataxia, Ataxi... |
OMIM:607596 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... |
ORPHA:210128 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... |
OMIM:611637 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Fasciculations, Axonal degeneration/regeneration, Decreased number o... |
OMIM:600882 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Distal sensory impairment, Axonal degeneration, Gait disturbance, Steppage gait, Tongue atrophy |
OMIM:616155 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Chorea, Peripheral demyelination, Peripheral hypomyelination, Axonal degenerati... |
OMIM:604168 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... |
ORPHA:423275 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... |
ORPHA:98762 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Retinal pigment epithelial mottling, Generalized dystonia, Cerebellar vermis ... |
OMIM:619389 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... |
ORPHA:284332 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia... |
OMIM:614487 |
| Spinocerebellar Ataxia 46 |
|
Sensory axonal neuropathy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria |
OMIM:617770 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Tremor, Ataxia |
OMIM:619099 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
| Christianson Syndrome |
|
Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Thick eyebrow, Gait ataxia... |
ORPHA:85278 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Involuntary movements, Chorea, Caudate atrophy, Parkinsonism, Weight l... |
ORPHA:98934 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Chorea, Paresthesia, Dysmetria, Peripheral hypomyelination, Abnormal pyramidal sign... |
ORPHA:48431 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination |
OMIM:616287 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... |
OMIM:613672 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Hand tremor, Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory ... |
ORPHA:352675 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal glucose homeostasis... |
ORPHA:90117 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Broad-based gait, Impaired vibration sensation in the lower limbs, Peripheral demy... |
OMIM:609033 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... |
ORPHA:101077 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Unsteady gait, Gait ataxia, Delayed myelination |
OMIM:618158 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... |
OMIM:615924 |
| Spinocerebellar Ataxia 11 |
|
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia |
OMIM:604432 |
| Machado-Joseph Disease Type 3 |
|
Degeneration of the striatum, Spasticity, Cerebellar atrophy, Spinocerebellar tract degeneration,... |
ORPHA:276244 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat... |
OMIM:615490 |
| Stargardt Disease |
|
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... |
ORPHA:827 |
| Amyotrophic Lateral Sclerosis |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para... |
ORPHA:803 |
| Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN... |
ORPHA:221091 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Spasticity, Falls, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, U... |
OMIM:270550 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Inability to walk, Dec... |
ORPHA:99948 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Difficulty wa... |
ORPHA:3115 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor |
OMIM:302500 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... |
ORPHA:98763 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... |
OMIM:617225 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Delayed myelination, Spastic tetraplegia |
ORPHA:599373 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... |
OMIM:213600 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Chorea, Peripheral demyelination, Babinski sign, Gait disturbance, Tetraplegia, At... |
OMIM:250100 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Babinski sign, Parkinsonism, Ataxia, Dy... |
OMIM:615911 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Alexander Disease Type I |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Dys... |
ORPHA:363717 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Anorexia |
ORPHA:90081 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation i... |
ORPHA:320406 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy |
OMIM:551500 |
| Cone-Rod Dystrophy 5 |
|
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:600977 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Tremor, Hereditary Essential, 6 |
|
Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Spastic paraplegia, Sensory axonal neuropathy, Difficulty walking, Gait ataxia, Dysmetria, Distal... |
OMIM:616907 |
| X-Linked Progressive Cerebellar Ataxia |
|
Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Clumsiness, Axo... |
ORPHA:1175 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ... |
OMIM:612736 |
| Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Tongue fasciculations, Cerebral cortical atrophy, Spasticity, Failure to thrive, P... |
ORPHA:2254 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Spasticity, Hypoglycemia, Elevated circulating tiglylglycine concentration, Spasti... |
OMIM:300438 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p... |
ORPHA:352641 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity |
ORPHA:228169 |
| Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... |
OMIM:613428 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Dystonia 23 |
|
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp |
OMIM:614860 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidit... |
ORPHA:401768 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Unsteady gait, Myoclonus, Hypertonia |
OMIM:610090 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal sensory impairment, Elevated circulating creatine kinase concentration, Steppage gait, Axo... |
OMIM:614455 |
| Lichtenstein-Knorr Syndrome |
|
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis |
OMIM:616291 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Spasticity, Abnormal posturing, Generalized dystonia, Opisthotonus, Atten... |
ORPHA:216866 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Cerebral cortical atrophy, Spasticity, Abnormal optic nerve morphology, Premature ... |
ORPHA:33445 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impaired tandem gait, Ap... |
OMIM:300423 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors |
OMIM:159900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... |
OMIM:607831 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... |
ORPHA:464440 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Frontal upsweep of hair, Tremor, Aggressive... |
OMIM:300983 |
| Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Peripheral demyelination, Myoclonus, Babinski sign, Apraxia, Gait disturbance, Axonal... |
OMIM:221770 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
| Spinal Muscular Atrophy, Type Iv |
|
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells |
OMIM:271150 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Spinocerebellar Ataxia Type 27 |
|
Sensory axonal neuropathy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, T... |
ORPHA:98764 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, CNS hypomyelination, Leukodystrophy, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, Scissor gait, ... |
ORPHA:521406 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Delayed CNS myelination, Tremor, Ataxia |
OMIM:616421 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, Ata... |
OMIM:261640 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Impaired vibration sensation in the lower limbs, Positive Romberg sign, Gait ... |
ORPHA:88628 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Short stature, Intent... |
OMIM:608029 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic paraplegia, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ankle clonus, ... |
OMIM:604360 |
| Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... |
ORPHA:85128 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101075 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Spasticity, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Delayed CNS myeli... |
OMIM:124000 |
| Retinitis Pigmentosa 61 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:614180 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... |
ORPHA:101109 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Tremor, Babinski sig... |
OMIM:128100 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Sensory axonal neuropathy, Motor axonal neuropathy, Elevated circulating creatine kinase concentr... |
OMIM:620542 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... |
ORPHA:98811 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Babinski sign, Atrophy of the spinal cord, Atr... |
ORPHA:445062 |
| Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613801 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia |
ORPHA:67047 |
| Spinocerebellar Ataxia 25 |
|
Impaired pain sensation, Decreased number of peripheral myelinated nerve fibers, Babinski sign, O... |
OMIM:608703 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Increased serum pyruvate, Hypoglycemia, Ataxia |
OMIM:246900 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc... |
OMIM:619405 |
| Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... |
OMIM:613731 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy |
ORPHA:75373 |
| Spinocerebellar Ataxia 49 |
|
Sensory axonal neuropathy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambul... |
OMIM:619806 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Retinitis Pigmentosa 76 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... |
OMIM:617123 |
| Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
| Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Hypoglycemia, Symmetrical progressive periphera... |
OMIM:231670 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia |
ORPHA:293964 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... |
OMIM:600363 |
| Huntington Disease |
|
Degeneration of the striatum, Oral-pharyngeal dysphagia, Polyphagia, Weight loss, Clonus, Bradyki... |
ORPHA:399 |
| Dysequilibrium Syndrome |
|
Gait disturbance, Cerebral palsy, Ataxia |
ORPHA:1766 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Distal sensory impairment, Loss of ambulation, Gait disturbance, Onion bulb formation, Myelin out... |
OMIM:615284 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... |
OMIM:617145 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
| Juvenile Primary Lateral Sclerosis |
|
Spasticity, Abnormal upper motor neuron morphology, Abnormal pyramidal sign, Spastic gait, Spasti... |
ORPHA:247604 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... |
OMIM:608133 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... |
ORPHA:284324 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Chorea, Tremor, Dysmetri... |
OMIM:164500 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... |
OMIM:606353 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101078 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abn... |
OMIM:251270 |
| Ataxia, Sensory, 1, Autosomal Dominant |
|
Sensory ataxia, Positive Romberg sign, Gait ataxia, Babinski sign, Gait disturbance, Gait instabi... |
OMIM:608984 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... |
ORPHA:254343 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor |
OMIM:619561 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Sensory axonal neuropathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Fasciculatio... |
ORPHA:52430 |
| Retinitis Pigmentosa 27 |
|
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... |
OMIM:613750 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
| Nystagmus 6, Congenital, X-Linked |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling |
OMIM:300814 |
| Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Babinski sign, Ataxia, Symmetric peripheral d... |
OMIM:169500 |
| Tyrosinemia, Type Ii |
|
Elevated urine N-acetyltyrosine level, Hypertyrosinemia |
OMIM:276600 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Sensory axonal neuropathy, Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalanine... |
ORPHA:254881 |
| Cone-Rod Dystrophy 24 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... |
OMIM:620342 |
| Dystonia 16 |
|
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... |
ORPHA:210571 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... |
ORPHA:100989 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat... |
OMIM:617156 |
| Mehmo Syndrome |
|
Spasticity, Hypoglycemia, Difficulty walking, Inability to walk, Gait ataxia, Babinski sign, Spas... |
OMIM:300148 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... |
ORPHA:314632 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... |
ORPHA:157941 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Spasticity, Hypoglycemia, Inability to walk, Hyperammonemia, Abnormality of extrap... |
OMIM:614739 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Truncal ataxia, ... |
ORPHA:453521 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Somatic sensory dysfunction |
ORPHA:101082 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy |
OMIM:172870 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Head titubation, Delayed CNS myelination... |
OMIM:618688 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Cerebral atrophy, Cherry red spot of the macula, Neurodegeneration, Abnor... |
ORPHA:309246 |
| Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
| Hsd10 Disease |
|
Optic atrophy, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Tremor, Rigi... |
ORPHA:391417 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615725 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, R... |
ORPHA:329284 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance |
OMIM:618090 |
| Retinitis Pigmentosa 90 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:619007 |
| Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy |
OMIM:619090 |
| Behr Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Dysmetria, Tremor, Babinski sign, Gait disturbance, Ata... |
OMIM:210000 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait |
OMIM:128235 |
| Krabbe Disease |
|
Optic atrophy, Peripheral demyelination, CNS demyelination, Hypertonia, Decerebrate rigidity, Pro... |
OMIM:245200 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia |
OMIM:619028 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Ataxia |
ORPHA:1186 |
| Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Demyelinating periphera... |
ORPHA:504476 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Tremor, Ataxia |
OMIM:620270 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Diaphragmatic paralysis... |
OMIM:620011 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Bietti Crystalline Dystrophy |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... |
ORPHA:41751 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia |
ORPHA:99014 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Peripheral axonal de... |
OMIM:604320 |
| Achromatopsia |
|
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... |
ORPHA:49382 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive cerebellar ataxia, Optic atrophy, Difficulty walking, Impaired vibration sensation in... |
ORPHA:137898 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... |
ORPHA:391411 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Hypoglycemia, Tremor, Dysmetria, Delayed CNS myelination, Limb hypertonia, Hyperto... |
OMIM:617710 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Involuntary movements, Sensory axonal neuropathy, Loss of ambulation, Babinski sig... |
OMIM:271245 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, Rigi... |
ORPHA:248111 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Clonus, Failure to thrive, Axonal degeneration |
OMIM:618811 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, CNS hypomyelination, Leukodystrophy, Loss of ambulation, Babinski sign, Abnor... |
OMIM:610532 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor |
OMIM:615386 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... |
OMIM:610185 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Spasticity, Leukodystrophy, Tremor, Rigidity, Cerebral hypomyelination, Oculomotor... |
OMIM:612438 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Tongue fasciculations, Hand tremor, Distal sensory impairment, Chronic axonal neuropathy, Impaire... |
OMIM:162400 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s... |
ORPHA:101085 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Degeneration of ... |
ORPHA:171863 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... |
OMIM:613811 |
| Tyrosinemia, Type Iii |
|
Hypertyrosinemia |
OMIM:276710 |
| Tangier Disease |
|
Impaired pain sensation, Decreased HDL cholesterol concentration, Impaired temperature sensation,... |
OMIM:205400 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxia, Impaired distal p... |
OMIM:617633 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... |
ORPHA:100988 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Incoordination, Gait ataxia, Dysmetria, Babinski sign, Optic disc pallor, Oculomotor apraxia, Ata... |
OMIM:616204 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Failure to thrive in infancy, Cachexia, Ata... |
ORPHA:702 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Tongue fasciculations, Facial palsy, Decreased compound muscle action potential amplitude, Degene... |
OMIM:301830 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ... |
OMIM:616127 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Spastic gait, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinating pe... |
ORPHA:2821 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degenera... |
OMIM:616811 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... |
ORPHA:506353 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia |
OMIM:606438 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Spastic paraplegia, Optic atrophy, Generalized dystonia, Difficulty walking, Peripheral demyelina... |
ORPHA:171629 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon... |
ORPHA:478029 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair... |
OMIM:616719 |
| Retinitis Pigmentosa 84 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:618220 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... |
ORPHA:2590 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
| X-Linked Creatine Transporter Deficiency |
|
Chorea, Self-mutilation, Aganglionic megacolon, Cachexia, Hyperactivity, Hypertonia, Ataxia, Dyst... |
ORPHA:52503 |
