| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
| 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 4, Juvenile |
|
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... |
OMIM:602433 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
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 |
|
Sensory ataxia, Babinski sign, Ataxia |
OMIM:256860 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... |
OMIM:606482 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Impaired tactile sensation, Motor axonal neuropathy, Gait disturban... |
ORPHA:98765 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Steppage gait, Toe walking, Impaired distal vibration ... |
OMIM:614436 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tremor, Incoordination, Decreased motor nerve conduction velocity, Hand tremor, Difficulty walkin... |
OMIM:302800 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis |
OMIM:613954 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign |
OMIM:311050 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Abasia, Ataxia |
OMIM:209100 |
| Huntington Disease-Like 2 |
|
Dystonia, Chorea, Gait disturbance, Weight loss, Cerebral cortical atrophy, Parkinsonism, Involun... |
ORPHA:98934 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... |
OMIM:615157 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| 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 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:615268 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral myelinated ... |
OMIM:604484 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... |
OMIM:605285 |
| Myasthenic Syndrome, Congenital, 15 |
|
Difficulty walking, Fatigable weakness, Frequent falls |
OMIM:616227 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:617769 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scoliosis, Difficulty walking, Lumbar hyperlordosis, Fatigable weakness, Abnormal peripheral nerv... |
ORPHA:353327 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:616410 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia, Spasticity |
OMIM:222350 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Myoclonus, Babinski sign, Choreoat... |
OMIM:606777 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:615889 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Diffuse cerebellar atrophy, Ataxia, Somatic sensory dysfunction, ... |
ORPHA:101010 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... |
OMIM:617018 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
ORPHA:211017 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... |
OMIM:606183 |
| Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... |
ORPHA:803 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Axonal degeneration, Limb ataxia, Oculomotor aprax... |
OMIM:208920 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... |
OMIM:601596 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... |
OMIM:105400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Steppage gait, Gait disturbance, Distal sensory impairment, Talipes equinovarus, Axonal degeneration |
OMIM:616155 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Paralysis, Peripheral axonal neuropathy, Talipes equinovarus |
OMIM:613710 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Am... |
OMIM:205100 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells |
OMIM:271150 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... |
ORPHA:171622 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Falls, Failure to thrive, Clonus, Tongue fasciculations, Axonal degeneration |
OMIM:618811 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... |
OMIM:214400 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls |
OMIM:615945 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, ... |
OMIM:615490 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... |
ORPHA:98769 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Cerebral... |
OMIM:617672 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Gait disturbance, Babinski sign, Diffus... |
OMIM:300660 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity |
ORPHA:217012 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Cerebellar hypoplasia, Ataxia |
OMIM:213000 |
| Porphyria, Acute Hepatic |
|
Paralysis, Paresthesia, Failure to thrive, Respiratory paralysis |
OMIM:612740 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:615957 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Scoliosis, Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations... |
OMIM:159950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... |
ORPHA:71277 |
| Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... |
ORPHA:101108 |
| Mental Retardation, Autosomal Dominant 33 |
|
Scoliosis, Hyperactivity |
OMIM:616311 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Spinocerebellar Ataxia 31 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:117210 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... |
ORPHA:363710 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Falls, Myoclonus, Ataxia |
OMIM:614937 |
| Ravine Syndrome |
|
Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology... |
ORPHA:99852 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis, Decreased size of nerve terminals, Fatigable weakness, Prolonged miniat... |
OMIM:603034 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Split hand, Chorea, Peripher... |
OMIM:604168 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria |
OMIM:617917 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Cerebellar... |
OMIM:616948 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria |
OMIM:616291 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Spinocerebellar tract degeneration, Spastic ataxia, Gait di... |
ORPHA:2572 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnormal cerebel... |
OMIM:270500 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... |
DECIPHER:29 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Distal ... |
OMIM:618387 |
| Spinocerebellar Ataxia 29 |
|
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... |
OMIM:117360 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... |
OMIM:607458 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Cerebral degeneration, Ataxia |
OMIM:260970 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... |
OMIM:615768 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Difficulty walking, Kyphosis, Peripheral axonal neuropathy, Optic atrophy, Optic disc ... |
OMIM:617087 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... |
ORPHA:284332 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... |
OMIM:615362 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Sp... |
OMIM:615643 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Positive Romberg sign, Gait ataxia, Gait disturbance, Camptodactyly, Ataxia, Abnormal sensory ner... |
ORPHA:88628 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... |
OMIM:616053 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myo... |
OMIM:600143 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Impaired pain sensation, Hand tremor, Impaired vibratory sensation, Paresthesia,... |
ORPHA:99947 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... |
OMIM:600116 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Olivopontocerebellar atrophy, Ataxia |
OMIM:258300 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... |
OMIM:613908 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... |
OMIM:617862 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... |
OMIM:105550 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... |
ORPHA:423275 |
| Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells |
OMIM:253400 |
| X-Linked Progressive Cerebellar Ataxia |
|
Dysdiadochokinesis, Clumsiness, Spinocerebellar tract degeneration, Progressive gait ataxia, Limb... |
ORPHA:1175 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... |
OMIM:610245 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... |
OMIM:609260 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... |
OMIM:608720 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Diaphragmatic paralysis, Degeneration of anterior horn cells, Small for ... |
OMIM:604320 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... |
OMIM:210000 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Facial palsy, Vocal cord paralysis, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Parkinsonism, Babinski sign |
OMIM:615911 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... |
OMIM:300894 |
| Myasthenic Syndrome, Congenital, 13 |
|
Scoliosis, Fatigable weakness |
OMIM:614750 |
| Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive |
|
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Increased neuronal autofl... |
OMIM:204300 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration |
OMIM:610951 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Gait ataxia, Tremor, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fa... |
OMIM:607317 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents, Decreased size of nerve terminals |
OMIM:601462 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Spastic paraplegia, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb spas... |
OMIM:611225 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... |
OMIM:618093 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Scoliosis, Decreased miniature endplate potentials, Facial palsy |
OMIM:608930 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Cerebral cortical atrophy, ... |
ORPHA:401820 |
| Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Ataxia, Increased neuronal autofluorescent lipopigm... |
OMIM:162350 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Facial diplegia, Paralysis, Cerebral atrophy |
OMIM:616286 |
| Spastic Paraplegia 35, Autosomal Recessive |
|
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Neur... |
OMIM:612319 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy |
OMIM:141500 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Inability to walk, Scoliosis, Dystonia, Axial dystonia, Difficulty walking, Upper limb spasticity... |
ORPHA:300605 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Abnormality of the vertebral column, Motor axonal neuropathy, Amyotrophic lateral ... |
ORPHA:52430 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... |
OMIM:254210 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... |
OMIM:614860 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Waddling gait, Axonal degeneration, Decreased nerve conduction velocity |
OMIM:618138 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebellar Purkinje layer atrophy, Abnorm... |
ORPHA:98756 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Dysdiadochokinesis, Gait disturbance, Bradykinesia, Degeneration of the striatum, Rigidity |
OMIM:609161 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... |
OMIM:617013 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... |
OMIM:613728 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Dystonia, Temporal cortical atrophy, Frontal cortical atrophy, Gait disturbance, Back pain, Amyot... |
OMIM:167320 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... |
OMIM:611302 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Giant somatosensory evoked potentials, ... |
OMIM:618876 |
| Huntington Disease-Like 2 |
|
Dystonia, Chorea, Action tremor, Weight loss, Bradykinesia, Rigidity |
OMIM:606438 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... |
ORPHA:314978 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... |
OMIM:617225 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity |
OMIM:608029 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... |
OMIM:615924 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... |
OMIM:610185 |
| Myopathy With Extrapyramidal Signs |
|
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... |
OMIM:615673 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Spinocerebellar Ataxia Type 17 |
|
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... |
ORPHA:98759 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Increased neuronal... |
OMIM:204500 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... |
ORPHA:306692 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Stereotypy, Babinski sign, Amyotrophic lateral sclerosis, Spasticity |
OMIM:612069 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria |
OMIM:616127 |
| Neuroectodermal Melanolysosomal Disease |
|
Tremor, Cerebral cortical hemiatrophy, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cer... |
ORPHA:33445 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... |
OMIM:618170 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Ce... |
ORPHA:521406 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... |
ORPHA:137898 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... |
OMIM:180800 |
| Amyotrophic Lateral Sclerosis 8 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608627 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... |
ORPHA:98763 |
| Spinocerebellar Ataxia 46 |
|
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria |
OMIM:617770 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... |
OMIM:605809 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... |
OMIM:604326 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Cerebral atrophy, Degeneration of anterior horn cells |
OMIM:600333 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Ankle clonus, Ataxia, Spastic gait, Lower limb spasticity, Cerebellar atrophy... |
OMIM:610357 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... |
ORPHA:251282 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... |
OMIM:615491 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Gait ataxia, Cachexia, Weight loss |
OMIM:612075 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Fasciculations, Degeneration of anterior horn cells, Ataxia |
OMIM:607596 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebellar atrophy, Par... |
OMIM:300423 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Peripheral axonal neur... |
OMIM:610743 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Scoliosis, Tremor, Difficulty walking, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:614018 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Vocal cord paresis, Sensory ataxia, Basal lamina onion... |
OMIM:614895 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Ataxia, Dilated fourth ventricle, Torticollis, Sensory axonal neuropathy, Cerebellar vermis atrop... |
OMIM:619054 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... |
OMIM:617633 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... |
OMIM:617145 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... |
ORPHA:79262 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... |
ORPHA:216873 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls |
OMIM:616921 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... |
ORPHA:95434 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ability to walk, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity |
OMIM:617916 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... |
OMIM:213200 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Tremor, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Ataxia |
ORPHA:101075 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Distal sensory impairment, Fasciculations, Hammertoe |
OMIM:615048 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls |
ORPHA:494526 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... |
ORPHA:98764 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... |
OMIM:128230 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Talipes equinovarus, ... |
OMIM:616719 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Vocal cord paresis, Split hand, Decreased number of pe... |
OMIM:607706 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Optic atrophy, Obesity |
OMIM:614947 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Tremor, Decreased motor nerve conduction velocity, Spastic paraparesis, Diffic... |
ORPHA:101077 |
| Amyotrophy, Hereditary Neuralgic |
|
Axonal degeneration, Peripheral axonal degeneration |
OMIM:162100 |
| Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy |
ORPHA:284271 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... |
OMIM:164500 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Cerebral atrophy, Progressive ... |
ORPHA:352641 |
| Machado-Joseph Disease Type 3 |
|
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... |
ORPHA:276244 |
| Huntington Disease |
|
Inability to walk, Dystonia, Decreased body mass index, Clumsiness, Difficulty walking, Chorea, G... |
ORPHA:399 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Tremor, Dystonia, Kyphosis, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Bra... |
OMIM:617435 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent li... |
OMIM:256731 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... |
OMIM:260300 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... |
OMIM:614831 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Cerebral atrophy, Pa... |
OMIM:272750 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... |
ORPHA:284324 |
| Roussy-Lévy Syndrome |
|
Genu valgum, Postural tremor, Gait ataxia, Clumsiness, Decreased motor nerve conduction velocity,... |
ORPHA:3115 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spastic paraplegia, Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of t... |
ORPHA:139578 |
| Rabies |
|
Cerebral palsy, Vocal cord paresis, Paresthesia, Attention deficit hyperactivity disorder |
ORPHA:770 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Dystonia, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atrophy, Axonal degen... |
OMIM:616811 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Choreoathetosis, Tremor, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... |
OMIM:606159 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... |
ORPHA:314632 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Scoliosis, Dystonia, Kyphosis, Cerebral atrophy, Ataxia, Lumbar hyperlordosis,... |
OMIM:616756 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... |
ORPHA:79263 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Spastic gait, Lower limb spastic... |
OMIM:607565 |
| Spinocerebellar Ataxia Type 1 |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Gait disturbance, Slurred speech, Abnormal... |
ORPHA:98755 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Scoliosis, Tongue fasciculations, Facial palsy, Degeneration of anterior horn cells |
OMIM:301830 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... |
ORPHA:329284 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Ataxia, Impaired tandem gait, Cerebellar atrophy, Lower limb spasticity, Myoclonus, Dysme... |
OMIM:619028 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Poor coordination, Neurodegeneration, Abnormal ... |
ORPHA:478029 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... |
ORPHA:276435 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... |
ORPHA:157941 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... |
OMIM:609270 |
| Isaac Syndrome |
|
Weight loss, Distal sensory impairment |
ORPHA:84142 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... |
OMIM:617810 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tremor, Gait ataxia, Peripheral demyelination, Spastic ataxia, Chorea, Erratic myoclonus, Abnorma... |
ORPHA:397946 |
| Spinocerebellar Ataxia Type 26 |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... |
ORPHA:101112 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Paralysis, Impaired distal tactile sensation |
ORPHA:90064 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Cerebe... |
ORPHA:98 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... |
OMIM:611637 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... |
ORPHA:93952 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Scoliosis, Fatigable weakness of respiratory muscles, Decreased size of nerve terminals, Thoracic... |
ORPHA:98913 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... |
ORPHA:247604 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia |
OMIM:616267 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Lower limb spastici... |
OMIM:600363 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... |
ORPHA:98807 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Fatigable weakness, Hyperlordosis, Waddling gait |
OMIM:616228 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia |
OMIM:617831 |
| Cerebrotendinous Xanthomatosis |
|
Dystonia, Abnormality of tibia morphology, Abnormality of extrapyramidal motor function, Palatal ... |
ORPHA:909 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... |
OMIM:616204 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Sensory ataxia, Gait ataxia, Cerebral atrophy, Atrophy of the spinal cord, Decreased body weight,... |
ORPHA:445062 |
| Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis, Fatigable weakness, Gait disturbance |
OMIM:614198 |
| Mental Retardation, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Tremor, Myoclonus |
OMIM:611092 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:612016 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
| Gerstmann-Straussler Disease |
|
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Weight loss, Bradykinesia, Cerebellar ... |
OMIM:137440 |
| Parkinson Disease 14, Autosomal Recessive |
|
Dystonia, Apraxia, Clumsiness, Tremor, Global brain atrophy, Bradykinesia, Frontotemporal cerebra... |
OMIM:612953 |
| Ataxia-Oculomotor Apraxia 3 |
|
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls |
OMIM:615217 |
| Spinocerebellar Ataxia Type 3 |
|
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Prog... |
ORPHA:98757 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... |
OMIM:616795 |
| Myasthenic Syndrome, Congenital, 12 |
|
Fatigable weakness, Facial palsy, Waddling gait |
OMIM:610542 |
| Atypical Juvenile Parkinsonism |
|
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... |
ORPHA:391411 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Tremor, Ataxia |
OMIM:618951 |
| Spinocerebellar Ataxia 17 |
|
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Limb ataxia, Chorea, Ataxia, Bradykinesia,... |
OMIM:607136 |
| Spinocerebellar Ataxia 4 |
|
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... |
OMIM:600223 |
| Spinocerebellar Ataxia 44 |
|
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity |
OMIM:617691 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... |
ORPHA:464440 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Cerebral cortical atrophy, Hyperactivity, Optic atrophy, Spasticity |
OMIM:300983 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... |
ORPHA:98811 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:168100 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Gait ataxia, Choreoathetosis, Cogwheel rigidity, Atrophy/Degeneration involving the cau... |
ORPHA:225154 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Adrenomyeloneuropathy |
|
Dysesthesia, Abnormality of peripheral nervous system electrophysiology, Atrophy/Degeneration inv... |
ORPHA:139399 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... |
OMIM:615528 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... |
OMIM:162500 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... |
OMIM:314250 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Tremor, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Paraparesis, A... |
ORPHA:99014 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Abnormality of the distal phalanx of the thumb, Dystonia, Gait ataxia, Truncal ataxia, Clumsiness... |
ORPHA:453521 |
| Machado-Joseph Disease Type 1 |
|
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... |
ORPHA:276241 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Atrophy of the spinal cord, Ataxia, Cerebellar atrophy, Babinski sign, Progress... |
OMIM:612020 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... |
OMIM:619279 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Talipes cavus equinovarus, Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar atax... |
ORPHA:139485 |
| Myasthenic Syndrome, Congenital, 10 |
|
Fatigable weakness, Facial palsy, Waddling gait |
OMIM:254300 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Scoliosis, Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... |
OMIM:614409 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Optic atrophy, Rigidity, Spasticity |
OMIM:612438 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Tremor, Difficulty walking, Hemiatrophy, Hemiparesis, Bradykinesia, Brain atrophy, Park... |
ORPHA:306669 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... |
ORPHA:228360 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Abnormality of the seventh cranial nerve, Tremor, Somatic sensory dysfunction,... |
ORPHA:90117 |
| Jaberi-Elahi Syndrome |
|
Inability to walk, Dystonia, Gait ataxia, Tremor, Cerebellar atrophy, Dysmetria, Failure to thriv... |
OMIM:617988 |
| Adult Krabbe Disease |
|
Hemiplegia, Hoffmann sign, Clumsiness, Progressive spastic paraparesis, Prolonged brainstem audit... |
ORPHA:206448 |
| Spinocerebellar Ataxia 26 |
|
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy |
OMIM:609306 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Gait ataxia, Neurodegeneration |
ORPHA:438134 |
| Hypokalemic Periodic Paralysis |
|
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Paralysis, Respiratory p... |
ORPHA:681 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... |
ORPHA:1170 |
| Caribbean Parkinsonism |
|
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... |
ORPHA:97355 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Scoliosis, Dystonia, Abnormal anterior horn cell morphology, Facial diplegia, ... |
OMIM:611890 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:616668 |
| Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Cerebral cortical at... |
ORPHA:85278 |
| Null Syndrome |
|
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... |
ORPHA:280234 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... |
ORPHA:99 |
| Spinocerebellar Ataxia 34 |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... |
OMIM:133190 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... |
ORPHA:2590 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Small for gestational age, P... |
OMIM:261640 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Spinocerebellar Ataxia 27 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... |
OMIM:609307 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism |
ORPHA:140989 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Difficulty walking, Amyotrophic lateral sclerosis, Unsteady gait, Decreased n... |
ORPHA:600 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... |
ORPHA:454887 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Truncal ataxia, Corpus callosum atrophy, Difficulty walking, Head tremor, Upper limb spasticity, ... |
ORPHA:320391 |
| Riboflavin Transporter Deficiency |
|
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... |
ORPHA:97229 |
| Synaptic Congenital Myasthenic Syndromes |
|
Scoliosis, Frequent falls, Decreased size of nerve terminals, Abnormal synaptic transmission at t... |
ORPHA:98915 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Dystonia 27 |
|
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia |
OMIM:616411 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... |
ORPHA:401768 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Optic disc pallor, G... |
ORPHA:216866 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... |
ORPHA:98772 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebe... |
OMIM:616505 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Cerebellar atrophy... |
ORPHA:71517 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Spinocerebellar Ataxia Type 29 |
|
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... |
ORPHA:208513 |
| Hsd10 Disease |
|
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... |
ORPHA:391417 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Tremor, Cerebral atrophy, Ataxia, Choreoathetosis |
OMIM:612126 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Involuntary movements, Parkinsonism with favorable response to dop... |
ORPHA:240103 |
| Parkinsonism With Spasticity, X-Linked |
|
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity |
OMIM:300911 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity |
OMIM:183050 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Cerebellar atrophy, D... |
ORPHA:330050 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... |
OMIM:606353 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Difficulty walking, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the ... |
OMIM:613608 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Swan neck... |
OMIM:270550 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... |
OMIM:213600 |
| Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy |
OMIM:606658 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Abnormal substantia n... |
ORPHA:289560 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Motor axonal neuropathy, Intention tremor, Kyphosis, Abnormal pyramidal sign, Ataxia, ... |
ORPHA:48431 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait |
ORPHA:210128 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Gait ataxia, Clumsiness, Global brain atrophy, Senile plaques, Spastic hemiparesis, Slurr... |
ORPHA:282166 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Cerebral atrophy, Ataxia |
OMIM:618637 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Truncal ataxia, Spastic paraparesis, Palatal myoclonus, Atrophy of the spinal cord, Cerebral cort... |
OMIM:113610 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity |
ORPHA:85288 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
