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