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 |
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Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
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Spasticity, Inability to walk, Optic atrophy, Abnormality of extrapyramidal motor function, Hypog... |
OMIM:614739 |
Combined Oxidative Phosphorylation Deficiency 45 |
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Tremor, Ataxia |
OMIM:618951 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Global brain atrophy, Delayed myelination, Myoclonic spasms, Poor coordination, Diffuse cerebella... |
ORPHA:478029 |
Pyruvate Dehydrogenase E3 Deficiency |
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Spasticity, Decreased plasma carnitine, Elevated plasma branched chain amino acids, Ataxia, Hypog... |
ORPHA:2394 |
Retinitis Pigmentosa 6 |
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Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312612 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
Primary Dystonia, Dyt2 Type |
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Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Spinocerebellar Ataxia 42 |
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Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Spastic gait, At... |
OMIM:616795 |
Microphthalmia, Isolated 5 |
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Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, Incoordination, Ataxia, Babi... |
OMIM:616204 |
Glutathionuria |
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Dysdiadochokinesis, Tremor, Action tremor, Glutathionuria |
OMIM:231950 |
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