| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity |
OMIM:612577 |
| Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Sensory axonal neuropathy, Gait disturbance, Motor axonal n... |
ORPHA:98765 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
| Myasthenic Syndrome, Congenital, 15 |
|
Frequent falls, Difficulty walking, Fatigable weakness |
OMIM:616227 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb formation, Decreased motor n... |
OMIM:302800 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
| Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Myasthenic Syndrome, Congenital, 18 |
|
Ataxia, Fatigable weakness, Difficulty walking |
OMIM:616330 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Favorable response of weakness to acetylcholine esterase inhibitors, Fatiga... |
ORPHA:353327 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Paralysis |
OMIM:608634 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... |
OMIM:604484 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight ... |
ORPHA:98934 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Neurodegeneration, Motor... |
ORPHA:803 |
| Diaminopentanuria |
|
Ataxia, Neurodegeneration, Spasticity |
OMIM:222350 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Loss of ambulation, Decreased miniature endplate potentials |
OMIM:616321 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
| Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... |
OMIM:208920 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... |
OMIM:606183 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia |
OMIM:615889 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Talipes equinovarus, Axonal degener... |
OMIM:601596 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Athetosis, Paralysis, Dystonia, Axonal loss |
OMIM:300857 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Talipes equinovarus, Axonal degeneration, Distal sensory impairment, Gait disturbance, Steppage gait |
OMIM:616155 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Talipes equinovarus, Peripheral axonal neuropathy, Distal sensory impairment, Difficulty walking,... |
OMIM:613710 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Axonal degeneration, Falls, Clonus, Tongue fasciculations |
OMIM:618811 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Talipes equinovarus, Axonal degeneration, Peripheral axonal ... |
OMIM:615490 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased size of nerve terminals, Fatigable weakness, Scoliosis, Hyperlordosis, Prolonged miniat... |
OMIM:603034 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616437 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Tremor, Gait disturbance, Metaphysea... |
OMIM:300660 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Scoliosis |
OMIM:614750 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Porphyria, Acute Hepatic |
|
Paresthesia, Failure to thrive, Paralysis, Respiratory paralysis |
OMIM:612740 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
| Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Spasticity of facial muscles, Difficulty wa... |
OMIM:205100 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis |
OMIM:606777 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... |
OMIM:617672 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Scoliosis |
OMIM:616311 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Facial palsy, Scoliosis, Fasciculations, Myoclonus, Frequent... |
OMIM:159950 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Ravine Syndrome |
|
Failure to thrive, Ataxia, Decreased body weight, Abnormal brainstem morphology, Atrophy/Degenera... |
ORPHA:99852 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia |
OMIM:617133 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Myoclonus, Ataxia, Falls |
OMIM:614937 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Talipes equinovarus, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, D... |
OMIM:604168 |
| Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... |
OMIM:616948 |
| Idiopathic Camptocormia |
|
Spinal canal stenosis, Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic ... |
ORPHA:1320 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Abnormal cer... |
ORPHA:98762 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Ulnar claw, Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduc... |
OMIM:607706 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... |
ORPHA:88628 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Gait disturb... |
ORPHA:2572 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Ataxia, Cerebral degeneration |
OMIM:260970 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Cerebellar atrop... |
OMIM:607458 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Hammertoe, Tremor, Ga... |
OMIM:618387 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Difficulty w... |
OMIM:617087 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
| Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Scoliosis, Decreased miniature endplate potentials |
OMIM:608930 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Impaired v... |
ORPHA:99947 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
OMIM:616053 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... |
OMIM:600143 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... |
OMIM:615362 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
| X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Limb ataxia, Dysmetria, Int... |
ORPHA:1175 |
| Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue... |
OMIM:253400 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
ORPHA:423275 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Failure to thrive, Talipes equinovarus, Decreased nerve conduction velocity, Axonal degeneration,... |
OMIM:604320 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigr... |
OMIM:600116 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... |
OMIM:608720 |
| Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... |
OMIM:610245 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Cerebral atr... |
OMIM:105550 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy |
OMIM:610951 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... |
OMIM:254210 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... |
OMIM:210000 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Talipes equinovarus, Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Fr... |
OMIM:620011 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... |
OMIM:607317 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Ankle clonus, Babinski sign, Tetraparesis, Abnormal lower motor ne... |
OMIM:613954 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis |
OMIM:607641 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Amyotrophic lateral sclerosis, Ataxia, Hypertonia, Inability to walk, Axi... |
ORPHA:300605 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Iron accumulation in substantia nigra, Corp... |
OMIM:619389 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Gait disturbance, Upper limb spasticity, ... |
OMIM:611225 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:616187 |
| Dystonia 23 |
|
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Gait disturbance,... |
OMIM:614860 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... |
OMIM:605809 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum |
OMIM:609161 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Prolonged miniature endplate currents, Fatigable weakness, Decreased size of nerve terminals |
OMIM:601462 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Loss of ambulation, Talipes equinovarus, Impaired vibratory sensation,... |
ORPHA:101097 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... |
ORPHA:401820 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria |
OMIM:612437 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis, Cerebral atrophy, Cerebellar atrophy |
OMIM:616286 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Brain atrophy, Cranial nerve compression, Abnormal motor neuron mo... |
ORPHA:52430 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... |
OMIM:615643 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... |
OMIM:612319 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... |
OMIM:618876 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 2 |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... |
ORPHA:98756 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:608029 |
| Huntington Disease-Like 2 |
|
Apathy, Anxiety, Chorea, Weight loss, Irritability |
OMIM:606438 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... |
OMIM:617225 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Short palm, Dysmetria, Small hand, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tre... |
OMIM:610185 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... |
ORPHA:521406 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
| Myasthenic Syndrome, Congenital, 14 |
|
Fatigable weakness, Scoliosis, Waddling gait, Hyperlordosis |
OMIM:616228 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... |
ORPHA:306692 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Loss of ambulation, Postu... |
OMIM:608627 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Progressive cerebellar ataxia, Babinski sign... |
ORPHA:137898 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T... |
OMIM:300894 |
| Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Axial dystoni... |
OMIM:604326 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar... |
ORPHA:33445 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... |
OMIM:162500 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor, Cerebellar atrophy |
OMIM:618090 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... |
OMIM:607596 |
| Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Fatigable weakness, Hyperlordosis |
OMIM:614198 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Fatigable weakness, Waddling gait |
OMIM:610542 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... |
OMIM:619054 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Attention deficit hyperactivity disorder |
OMIM:617863 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... |
OMIM:615924 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Incoordination, Obesity |
OMIM:614947 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... |
OMIM:615491 |
| Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... |
ORPHA:276244 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Peripheral axonal neuropathy, Gait ataxia, S... |
OMIM:610743 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Opti... |
ORPHA:216873 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, A... |
ORPHA:95434 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... |
ORPHA:139578 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of neck muscles, Decreased size of nerve terminals, Scoliosis, Thoracic kyphos... |
ORPHA:98913 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy |
OMIM:617916 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Kyphosis, Ataxia, Lumbar hyperlordosis, Inability to walk, Cerebral atrophy, Sc... |
OMIM:616756 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talip... |
OMIM:128230 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Difficulty walking, Abnormality of somatosensory evoked potentials, Peripheral demyelinat... |
ORPHA:206594 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Scol... |
OMIM:617435 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Tremor, Dystonia, Hypoplasia of the brainstem |
OMIM:619651 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Spinal Muscular Atrophy, Jokela Type |
|
Distal sensory impairment, Hammertoe, Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, C... |
OMIM:616127 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Gait disturbance, ... |
ORPHA:98764 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Talipes equinovarus, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spas... |
OMIM:616719 |
| Huntington Disease |
|
Gait imbalance, Clumsiness, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Inabili... |
ORPHA:399 |
| Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait, Cerebellar atrophy |
ORPHA:284271 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy |
OMIM:616494 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Peripheral axo... |
ORPHA:101077 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Increased neuronal autofluorescent ... |
OMIM:256731 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Olivopontocerebellar atrophy, Op... |
OMIM:164500 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibration sensation in the lower limbs,... |
ORPHA:352641 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talipes equinovaru... |
OMIM:260300 |
| Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Loss of Purkinje cells in the cerebellar vermis, Impaired proprioception, Progres... |
ORPHA:98755 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Sim... |
ORPHA:157941 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... |
ORPHA:397946 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... |
ORPHA:79263 |
| Isaacs Syndrome |
|
Weight loss, Distal sensory impairment |
ORPHA:84142 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... |
ORPHA:478029 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... |
ORPHA:98759 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... |
OMIM:619028 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Facial palsy |
OMIM:301830 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
| Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Waddling gait, Hand tremor, Tongue fasciculations |
OMIM:271150 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Abnormal cerebellum morphology, Progressive cerebellar ataxia, Abnormal pons morphology, ... |
ORPHA:98 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
| Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... |
ORPHA:101112 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
| Hypokalemic Periodic Paralysis |
|
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Paralysis, Respiratory p... |
ORPHA:681 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Ataxia, Decreased nerve conduction velocity, Scoliosis, Gait disturbance, Tremor |
ORPHA:101078 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Optic atrophy, Spasticity, Cerebellar atrophy, Dystonia, G... |
OMIM:616811 |
| Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
| Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... |
OMIM:611637 |
| X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Babinski sign, Fre... |
ORPHA:93952 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy |
OMIM:612016 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... |
OMIM:600363 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:617691 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Spinocerebellar Ataxia 49 |
|
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Unsteady gait, Cerebell... |
OMIM:619806 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism |
OMIM:615911 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait ataxia, Spastici... |
OMIM:617810 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Decreased body weight, Sensory ataxia, Cerebral atrophy, Babinski sign, Atrophy/Degeneration affe... |
ORPHA:445062 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Iron accumulation in substantia nigra, Abnor... |
ORPHA:329284 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... |
ORPHA:391411 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
| Cerebrotendinous Xanthomatosis |
|
Paraparesis, Abnormality of femur morphology, Ataxia, Axonal degeneration, Babinski sign, Optic a... |
ORPHA:909 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
| Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... |
OMIM:600223 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Axonal degeneration, Atrophy/Degeneration involving the corticospinal... |
ORPHA:139399 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Machado-Joseph Disease Type 1 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... |
ORPHA:276241 |
| De Sanctis-Cacchione Syndrome |
|
Hypertonia, Ataxia, Cerebral atrophy, Axonal degeneration, Babinski sign, Olivopontocerebellar at... |
OMIM:278800 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity, Small for gestational age |
OMIM:278780 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Synaptic Congenital Myasthenic Syndromes |
|
Abnormal synaptic transmission at the neuromuscular junction, Decreased size of nerve terminals, ... |
ORPHA:98915 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Dystonia |
OMIM:612438 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... |
OMIM:183090 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Kyphosis, Ataxia, Scoliosis, Optic atrophy, Tremor, Gait disturbance, Abnormal nerve... |
ORPHA:99014 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor |
OMIM:616710 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Gait disturbance, Atrophy of the spinal cord, Progressive spastic parapleg... |
OMIM:612020 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Kyphosis, Inability to walk, Cerebral atrophy, Paucity of anterior horn motor ne... |
OMIM:611890 |
| Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Pseudobulbar paralysis, Progressive cerebella... |
ORPHA:99857 |
| Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Cerebral atrophy, Exaggerated startle response, Abnormal pyramidal sign, Neurodegener... |
OMIM:272750 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Abnormal lower motor neuron morphology,... |
ORPHA:2590 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Null Syndrome |
|
Ataxia, Inability to walk, Abnormal cerebellum morphology, Decreased nerve conduction velocity, P... |
ORPHA:280234 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Neurodegeneration, Cerebellar atrophy |
ORPHA:438134 |
| Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Blepharospasm, Bradykinesia, ... |
ORPHA:683 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Ta... |
ORPHA:139485 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Cerebral atrophy, Upper limb spasticity, Upper limb dysmetria, Ankle clonus, Knee clonu... |
OMIM:614409 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... |
OMIM:117360 |
| Spinocerebellar Ataxia 26 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination |
OMIM:609306 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Difficulty walking, Vocal cor... |
ORPHA:600 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Optic atrophy, Diffuse cerebral atrophy, Tremor, Difficulty... |
ORPHA:330050 |
| Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Abnormal pons morphology, Acroparesthesia, Hoff... |
ORPHA:206448 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Christianson Syndrome |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Adducted th... |
ORPHA:85278 |
| Caribbean Parkinsonism |
|
Action tremor, Cerebral cortical atrophy, Bradykinesia, Abnormal autonomic nervous system physiol... |
ORPHA:97355 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Diffuse cerebral ... |
ORPHA:1170 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... |
ORPHA:90117 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... |
ORPHA:71517 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:616668 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:1368 |
| Spinocerebellar Ataxia Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:98757 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Pseudopapilledema, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Enhancement of the ... |
OMIM:613608 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Cerebellar gliosis, Intention tremor, Myoclonus, Babinski sign, Pe... |
OMIM:616505 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Cachexia, Myoclo... |
ORPHA:97229 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Peripheral axonal neuropath... |
ORPHA:401768 |
| Cln5 Disease |
|
Ataxia, Atrophy/Degeneration affecting the central nervous system, Cerebral cortical atrophy, Poo... |
ORPHA:228360 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Inability to walk, Exaggerated startle response, Ankle clonus, Babinski sign, Scoliosis... |
OMIM:609541 |
| Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy |
OMIM:616267 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Spinocerebellar ataxia 27 |
|
Ataxia, Limb ataxia, Impaired vibratory sensation, Truncal ataxia, Sensory axonal neuropathy, Hea... |
OMIM:609307 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Cerebral cortical atrophy, Optic atrophy, Tremor, Spasticity |
OMIM:300983 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Gait imbalance, Loss of ambulation, Abnormal pyramidal sign, Scoliosis, Limb dysmetria, Fatigable... |
ORPHA:329336 |
| Rabies |
|
Paresthesia, Cerebral palsy, Vocal cord paresis |
ORPHA:770 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Abnor... |
OMIM:606353 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Hemiatroph... |
ORPHA:306669 |
| Spinocerebellar Ataxia Type 29 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... |
ORPHA:208513 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Neurodegeneratio... |
OMIM:614298 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Neurodegeneration, Chorea, Rigi... |
OMIM:606159 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... |
ORPHA:391417 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis |
OMIM:619470 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Frequent falls, Optic disc pallor, Gait disturbanc... |
ORPHA:216866 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Cerebral cortical atrophy, Truncal ataxia, Spastic paraparesis |
OMIM:113610 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Gait disturbance, Fatigable weakness, Scoliosis |
ORPHA:424107 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... |
OMIM:133190 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Decreased number of large peripheral myelinated ... |
OMIM:270550 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Kyphosis, Hypertonia, Inability to walk, Blepharospasm, Oromandibular dystonia, Babi... |
OMIM:128100 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Kyphosis, Cerebral cortical atrophy, Ataxia, Dysmetria, Intention tremor... |
ORPHA:48431 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Abnormal autonomic nervous system physiology, Dysdiadochokinesis, Oculogyric crisis, Park... |
OMIM:618049 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Dopa-Responsive Dystonia |
|
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... |
ORPHA:255 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scoliosis, Hyperlordosis, Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Hand tremor, Babinski sign, Parkinsonism, Rigidity, Optic atro... |
ORPHA:289560 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Dysmetria, Babinski sign, Optic atrophy, T... |
OMIM:607694 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Kyphosis, Tip-toe gait, Babinski sign, Scoliosis, Hyperlordosis, Waddling gait,... |
OMIM:615290 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ataxia, Weight loss |
OMIM:613662 |
| Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
