| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... |
ORPHA:95434 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Babinski sign |
OMIM:311050 |
| Episodic Ataxia, Type 1 |
|
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... |
OMIM:611637 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spas... |
OMIM:213200 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... |
ORPHA:247604 |
| Spinocerebellar Ataxia 48 |
|
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign |
OMIM:618093 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Apraxia, Gliosis, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnorm... |
ORPHA:275872 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetrap... |
OMIM:604484 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Poor fine motor coordinati... |
ORPHA:320370 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Apraxia, Gliosis, Paraparesis, Tetraparesis, Abnormal lower motor neuron morphology, Amyotrophic ... |
OMIM:105550 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation |
ORPHA:99014 |
| Huntington Disease-Like 2 |
|
Dystonia, Chorea, Gait disturbance, Weight loss, Parkinsonism, Involuntary movements |
ORPHA:98934 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity |
OMIM:617018 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Difficulty walking, Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, ... |
OMIM:602433 |
| Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation |
ORPHA:2815 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Gait ataxia, Cachexia, Weight loss |
OMIM:612075 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia 17 |
|
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Gliosis, Limb ataxia, Chorea, Ataxia, Brad... |
OMIM:607136 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Sp... |
OMIM:205100 |
| Alpers-Huttenlocher Syndrome |
|
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tremor, Incoordination, Frequent falls, Difficulty walking, Paraparesis, Gait disturbance, Toe wa... |
OMIM:302800 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign |
OMIM:300660 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... |
ORPHA:423275 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... |
OMIM:616053 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired pain sensation, Impaired vibratory sensation, Impaired temperature sensation, Abnormal m... |
DECIPHER:29 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Spastic paraparesis, Babinski sign |
OMIM:613672 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Tremor, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminer... |
OMIM:606693 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity |
ORPHA:217012 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Gliosis, Torticollis, Frequent falls, Spasticity |
OMIM:618369 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia |
ORPHA:401840 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy, Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... |
ORPHA:99 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia |
ORPHA:423296 |
| Mast Syndrome |
|
Spastic paraplegia, Apraxia, Spastic paraparesis, Gait disturbance, Babinski sign |
OMIM:248900 |
| Huntington Disease |
|
Gait ataxia, Gliosis, Chorea, Bradykinesia, Rigidity |
OMIM:143100 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Weight loss, Cachexia, Ataxia |
OMIM:613662 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Chorea, Hypertonia, Upper limb s... |
ORPHA:300605 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... |
ORPHA:98769 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... |
ORPHA:251282 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Huntington Disease-Like 2 |
|
Dystonia, Chorea, Weight loss, Action tremor, Bradykinesia, Rigidity |
OMIM:606438 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls |
ORPHA:494526 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Paraparesis, Distal sensory impairment |
OMIM:302802 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Hemiparesis, Gliosis |
OMIM:613002 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls |
OMIM:616921 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity |
OMIM:600116 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... |
OMIM:606353 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... |
OMIM:607483 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids |
|
Apraxia, Gliosis, Bradykinesia, Rigidity, Shuffling gait, Spasticity |
OMIM:221820 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Clumsiness, Gliosis, Incoordination, Chorea, Gait disturbance, Poor fine motor coord... |
ORPHA:157941 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... |
ORPHA:363710 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment |
OMIM:615048 |
| Mental Retardation, Autosomal Dominant 56 |
|
Paraparesis, Attention deficit hyperactivity disorder, Ataxia, Spasticity |
OMIM:617854 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dystonia, Gliosis, Amyotrophic lateral sclerosis, Paralysis, Athetosis |
OMIM:300857 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Atrophy of the spinal cord, Weakness due to upper motor neuron dysf... |
ORPHA:35689 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... |
OMIM:314250 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia |
OMIM:617831 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Spastic paraplegia, Paresthesia, Gait disturbance, Tetraparesis, Abnormal upper motor neuron morp... |
OMIM:263570 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Paraparesis |
ORPHA:231445 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia |
ORPHA:67047 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria |
OMIM:617917 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... |
OMIM:128230 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... |
OMIM:607317 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Developmental And Epileptic Encephalopathy 14 |
|
Tetraplegia, Clonus, Gliosis, Spasticity |
OMIM:614959 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Spastic Paraplegia 2, X-Linked |
|
Spastic paraplegia, Spastic paraparesis, Spinocerebellar tract degeneration, Lower limb spasticit... |
OMIM:312920 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... |
ORPHA:2590 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity |
OMIM:615768 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Head tremor, Torticollis, Abnormal motor neuron morphology, Intention tremor |
OMIM:613724 |
| Mental Retardation, Autosomal Recessive 6 |
|
Involuntary movements, Tremor, Myoclonus, Dystonia |
OMIM:611092 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:168100 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... |
ORPHA:98807 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... |
OMIM:260300 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ata... |
ORPHA:204 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Apraxia, Dystonia, Ataxia, Spasticity |
OMIM:615889 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... |
OMIM:615528 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Spastic paraparesis |
OMIM:182610 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis, Dystonia, Gait ataxia, Rigidity, Cogwheel rigidity, Gait dis... |
ORPHA:225154 |
| Riboflavin Transporter Deficiency |
|
Myoclonus, Tremor, Cachexia, Ataxia |
ORPHA:97229 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Apraxia, Gliosis, Gait disturbance, Abnormal upper motor neuron morphology, Myoclonus, Babinski s... |
OMIM:221770 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... |
ORPHA:464440 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... |
OMIM:615924 |
| Machado-Joseph Disease |
|
Dystonia, Truncal ataxia, Gliosis, Impaired vibratory sensation, Abnormality of extrapyramidal mo... |
OMIM:109150 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Dysmetria, Babin... |
OMIM:270500 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... |
ORPHA:101077 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Unsteady gait |
OMIM:616127 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Gliosis, Gait disturbance, Hyperkinetic movements, Truncal obesity, Small for gestational... |
OMIM:300957 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... |
OMIM:600363 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... |
ORPHA:216873 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, B... |
OMIM:602099 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:614373 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
ORPHA:79262 |
| Parkinsonism With Spasticity, X-Linked |
|
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity |
OMIM:300911 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Gliosis, Difficulty walking, Ataxia, Lower limb spasticity, Titubation, Failur... |
ORPHA:280210 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Christianson Syndrome |
|
Dystonia, Gait ataxia, Truncal ataxia, Cachexia, Stereotypy |
ORPHA:85278 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... |
OMIM:610245 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... |
ORPHA:454887 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... |
ORPHA:314978 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity |
OMIM:210000 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Difficulty walking, Lower limb spasticity, Spastic gait, Impaired vibration sensation in the lowe... |
ORPHA:444099 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... |
OMIM:611302 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Myoclonus, Hypertonia, Gliosis, Spasticity |
OMIM:225753 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Boucher-Neuhauser Syndrome |
|
Gait ataxia, Ataxia, Abnormal upper motor neuron morphology, Intention tremor, Spasticity |
OMIM:215470 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Dystonia 27 |
|
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia |
OMIM:616411 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria |
OMIM:607458 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Dystonia, Rigidity, Hypertonia, Bradykinesia, Ataxia, Small for gestational age, Parkinso... |
OMIM:261640 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Gait disturbance, Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Spas... |
ORPHA:702 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... |
OMIM:617225 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism |
ORPHA:140989 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... |
ORPHA:98763 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... |
OMIM:617013 |
| X-Linked Adrenoleukodystrophy |
|
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Somatic sensor... |
ORPHA:43 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Ste... |
ORPHA:457240 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... |
ORPHA:276435 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... |
ORPHA:306692 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria |
OMIM:616291 |
| Spinocerebellar Ataxia Type 28 |
|
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... |
ORPHA:101109 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Spastic paraplegia, Gliosis, Spastic tetraplegia, Babinski sign, Cerebral palsy |
OMIM:612936 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Obesity |
OMIM:614947 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Dystonia, Ataxia, Abnormal upper motor neuron morphology, Dysmetria, Babinski si... |
OMIM:607694 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... |
ORPHA:314632 |
| Isaac Syndrome |
|
Fasciculations, Weight loss, Distal sensory impairment |
ORPHA:84142 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia |
OMIM:614860 |
| X-Linked Creatine Transporter Deficiency |
|
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Athetosis |
ORPHA:52503 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication |
OMIM:610297 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... |
ORPHA:100988 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... |
ORPHA:521406 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait |
OMIM:618387 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis |
ORPHA:101005 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Paraparesis, Tetraparesis, Ataxia, Choreoathetosis |
ORPHA:27 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... |
ORPHA:254343 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Tremor, Difficulty walking, Failure to thrive, Babinski sign, Broad-based gait |
ORPHA:477673 |
| Hemimegalencephaly |
|
Myoclonus, Hemiparesis, Abnormal neuron morphology, Gliosis |
ORPHA:99802 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Dystonia 16 |
|
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Huntington Disease |
|
Inability to walk, Dystonia, Decreased body mass index, Clumsiness, Difficulty walking, Chorea, G... |
ORPHA:399 |
| Adrenoleukodystrophy |
|
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... |
OMIM:300100 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis |
ORPHA:496756 |
| Hsd10 Disease |
|
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Choreoathetosis |
ORPHA:391417 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... |
OMIM:300894 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... |
ORPHA:352641 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Failure to thrive, Gliosis, Ataxia |
OMIM:220111 |
| Leukoencephalopathy With Vanishing White Matter |
|
Lethargy, Gliosis, Gait disturbance, Unsteady gait, Spasticity |
OMIM:603896 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Gliosis, Distal sensory impairment, Abnormality of extrapyramidal motor function |
OMIM:604218 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Leigh Syndrome |
|
Dystonia, Gliosis, Ataxia, Failure to thrive, Spasticity |
OMIM:256000 |
| Parkinson Disease 1, Autosomal Dominant |
|
Dystonia, Gliosis, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigid... |
OMIM:168601 |
| Atypical Juvenile Parkinsonism |
|
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... |
ORPHA:391411 |
| Myopathy With Extrapyramidal Signs |
|
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia |
OMIM:615673 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Upper limb spasticity, Knee clonus, ... |
OMIM:275900 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607688 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria |
OMIM:619028 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis, Hypertonia, Babinski sign, Clonus, Myoclonic spasms, Rigidity |
OMIM:614498 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Difficulty walking, Waddling gait, Abnormal lower motor neuron morphology |
OMIM:611067 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ability to walk, Rigidity, Dystonia |
OMIM:615010 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... |
OMIM:604326 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Tremor, Myoclonus, Torticollis |
OMIM:159900 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Paucity ... |
OMIM:611890 |
| Spastic Paraplegia 35, Autosomal Recessive |
|
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Atax... |
OMIM:612319 |
| Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Gliosis, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Res... |
ORPHA:411602 |
| Huntington Disease-Like 1 |
|
Basal ganglia gliosis, Incoordination, Chorea, Unsteady gait, Dysmetria, Rigidity |
OMIM:603218 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Progressive gait a... |
ORPHA:284324 |
| Myopathy, Spheroid Body |
|
Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Unilateral vocal cord paralysis, Lethargy, Incoordination, Gliosis, Head titubation, Dysmetria, I... |
OMIM:301790 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus... |
OMIM:159950 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Progressive Supranuclear Palsy |
|
Tremor, Dystonia, Gliosis, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity |
ORPHA:683 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Hypertonia, Small for gestational age, Gliosis, Spasticity |
OMIM:615095 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... |
ORPHA:363654 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Tremor, Myoclonus, Ataxia |
OMIM:614018 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
| Gerstmann-Straussler Disease |
|
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Weight loss, Parkinsonis... |
OMIM:137440 |
| Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Difficulty walking, Paraparesis, Ataxia, Meningocele, Opisthotonus, Somatic sen... |
ORPHA:1136 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... |
ORPHA:206443 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Ataxia, Brady... |
OMIM:615157 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis |
OMIM:105500 |
| Flynn-Aird Syndrome |
|
Cachexia, Ataxia, Impaired pain sensation |
ORPHA:2047 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia |
ORPHA:1933 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Parkinsonism, Babinski sign |
OMIM:300423 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity |
OMIM:616719 |
| Machado-Joseph Disease Type 3 |
|
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... |
ORPHA:276244 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Overweight, Abnormality of extrapyramidal motor function, Paraparesis, Gait di... |
ORPHA:2822 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysdiadochokinesis, Tremor, Dystonia, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... |
OMIM:617145 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... |
ORPHA:93952 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Hypertonia, Distal sensory impairment, Babinski sign, Steppage gait, Spasticity |
OMIM:609260 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Hypertonia, Failure to thrive in infancy, Cachexia, Spasticity |
OMIM:616801 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor, Degeneration of anterior horn cells |
ORPHA:65684 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia |
OMIM:612016 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... |
OMIM:164500 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... |
ORPHA:397946 |
| Peroxisome Biogenesis Disorder 8B |
|
Spastic paraparesis, Ataxia, Dysmetria, Failure to thrive, Spasticity |
OMIM:614877 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Dystonia, Rigidity, Spastic paraparesis, Head titubation, Ataxia, Babinski sign, Intention tremor... |
OMIM:608804 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, H... |
ORPHA:137898 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... |
OMIM:213600 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Rett Syndrome |
|
Dystonia, Gait ataxia, Truncal ataxia, Gait apraxia, Cachexia, Spasticity |
OMIM:312750 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations, Gait disturbance, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Ataxia, Hyperactivity |
OMIM:300983 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Dystonia, Clumsiness, Apraxia, Bradykinesia, Parkinsonism, Rigidity, Spasticity |
OMIM:612953 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Dystonia, Cachexia, Babinski sign, Spasticity |
OMIM:618186 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Spastic paraplegia, Abnormal lower motor neuron morphology, Spastic tetraplegia, Babinski sign, T... |
OMIM:607225 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:301840 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity |
ORPHA:329284 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Generalized dystonia... |
ORPHA:216866 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity |
OMIM:612716 |
| Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Spastic paraparesis, Decreased body weight |
OMIM:618721 |
| Atypical Rett Syndrome |
|
Inability to walk, Pill-rolling tremor, Tremor, Dystonia, Gait ataxia, Apraxia, Gait disturbance,... |
ORPHA:3095 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Inability to walk, Dystonia, Basal ganglia gliosis, Gliosis, Ataxia, Small for gestational age, C... |
ORPHA:79243 |
| Parkinson Disease 17 |
|
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614203 |
| Primary Dystonia, Dyt2 Type |
|
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... |
ORPHA:99657 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... |
OMIM:616795 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Frequent falls, Spastic paraparesis, Gait disturbance, Bradykinesia, Parkinsonism, Babi... |
ORPHA:289560 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Upper mot... |
ORPHA:506353 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis, Apraxia, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron ... |
ORPHA:100070 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Parkinsonism-Dystonia, Infantile, 1 |
|
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... |
OMIM:613135 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Pelizaeus-Merzbacher Disease |
|
Tremor, Dystonia, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... |
OMIM:312080 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... |
ORPHA:98764 |
| Pick Disease Of Brain |
|
Gliosis, Stereotypy |
OMIM:172700 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations |
OMIM:618170 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... |
OMIM:609270 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp |
OMIM:608105 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibratory sensation, Gait disturbance, Dysfunction of lateral cortic... |
OMIM:601162 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Palatal myoclonus, Truncal ataxia, Spastic paraparesis, Atrophy of the spinal cord |
OMIM:113610 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Spinal arteriovenous malformation, Abnormality of the spinal cord |
ORPHA:53721 |
| X-Linked Dystonia-Parkinsonism |
|
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:53351 |
| Perry Syndrome |
|
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Choreoathetosis, Ataxia, Dystonia |
OMIM:612126 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Dystonia, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:98293 |
| Neuroectodermal Melanolysosomal Disease |
|
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity |
ORPHA:33445 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Tremor, Myoclonus |
OMIM:613608 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Waddling gait, Upper motor neuro... |
ORPHA:52430 |
| Gabriele-De Vries Syndrome |
|
Tremor, Waddling gait, Dystonia |
OMIM:617557 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... |
OMIM:617435 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis, Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic tetraplegia |
OMIM:256600 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... |
ORPHA:99750 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, My... |
OMIM:614487 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Resting tremor, Obesity, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling ga... |
ORPHA:3077 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| Xfe Progeroid Syndrome |
|
Poor coordination, Cachexia |
OMIM:610965 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Tremor, Gait ataxia, Apraxia, Dysmetria, Spasticity |
OMIM:617810 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... |
ORPHA:240085 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Parkinsonism, Limb... |
ORPHA:71517 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... |
ORPHA:79263 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Cachexia, Ataxia |
ORPHA:42 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus |
OMIM:618587 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Pseudobulbar paralysis, Gliosis, Ataxia, Babinski sign, Spasticity |
OMIM:169500 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus |
ORPHA:139485 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:605909 |
| Caribbean Parkinsonism |
|
Dystonia, Apraxia, Progressive gait ataxia, Action tremor, Bradykinesia, Weakness due to upper mo... |
ORPHA:97355 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... |
OMIM:614831 |
| Spinocerebellar Ataxia 2 |
|
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Spinocerebellar tract degenera... |
OMIM:183090 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus |
ORPHA:324588 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal lower ... |
OMIM:614298 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Tremor, Dystonia, Rigidity, Ataxia, Choreoathetosis, Spasticity |
OMIM:612438 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Parkinsonism, Babinski sign, Ataxia |
OMIM:615911 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| Perry Syndrome |
|
Tremor, Dystonia, Akinesia, Bradykinesia, Weight loss, Parkinsonism, Short stepped shuffling gait... |
OMIM:168605 |
| Tay-Sachs Disease |
|
Inability to walk, Tremor, Dystonia, Clumsiness, Gliosis, Incoordination, Gait disturbance, Poor ... |
ORPHA:845 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Gliosis, Failure to thrive |
OMIM:214150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait |
OMIM:300055 |
| Cerebrotendinous Xanthomatosis |
|
Dystonia, Gliosis, Spastic paraparesis, Abnormality of extrapyramidal motor function, Palatal myo... |
ORPHA:909 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Myoclonus, Spastic paraparesis, Ataxia |
OMIM:231000 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Gliosis, Abnormal astrocyte morphology, Spasticity |
ORPHA:168486 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism |
ORPHA:306669 |
| Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Difficulty walking, Loss of ability to walk, Weight loss, Paraplegia |
ORPHA:98897 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Upper limb postural tremor, Action tremor, Distal sensory impairment |
OMIM:180800 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gestational age, Ri... |
ORPHA:70594 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Tremor, Dystonia, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... |
OMIM:606159 |
| Adult Krabbe Disease |
|
Hemiplegia, Hoffmann sign, Clumsiness, Impaired tactile sensation, Gait disturbance, Tetraparesis... |
ORPHA:206448 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity |
OMIM:603472 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Inability to walk, Tremor, Dystonia, Truncal ataxia, Gait ataxia, Rigidity, Hypertonia, Hemiballi... |
OMIM:618877 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Tetraplegia, Hypertonia, Spastic tetraplegia, Gliosis |
OMIM:608033 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonus, Gliosis |
OMIM:614946 |
| Jaberi-Elahi Syndrome |
|
Inability to walk, Tremor, Gait ataxia, Dystonia, Dysmetria, Failure to thrive, Choreoathetosis, ... |
OMIM:617988 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Oculomotor apraxia, Ataxia, Myoclonus, Dysmetr... |
ORPHA:313772 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Familial Acute Necrotizing Encephalopathy |
|
Gliosis, Gait disturbance, Hypertonia, Spastic tetraplegia, Rigidity, Spasticity |
ORPHA:88619 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Distal sensory impairment |
OMIM:616668 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Gait disturbance, Hypertonia, ... |
ORPHA:352649 |
| Hypermanganesemia With Dystonia 1 |
|
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... |
OMIM:613280 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign, Abnormal astrocyte morp... |
ORPHA:83629 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Spastic paraparesis, Impaired vibratory sensation, Poor coordination, Abnormal pyramida... |
OMIM:238970 |
| Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Progressive gait ataxia, Atrophy of the spinal cord, Spastic gait, Progressive i... |
ORPHA:447757 |
| Poliomyelitis |
|
Inability to walk, Myelitis, Paresthesia, Paraparesis, Hyperkinetic movements, Paralysis, Fascicu... |
ORPHA:2912 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Infantile Krabbe Disease |
|
Spastic diplegia, Ankle clonus, Opisthotonus, Lower limb spasticity, Decerebrate rigidity, Cachex... |
ORPHA:206436 |
| Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... |
ORPHA:96 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar gliosis, Dysmetria, Intention tremor, Distal ... |
OMIM:616505 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... |
ORPHA:98773 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... |
OMIM:616586 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Cachexia, Hyperactivity, Broad-based gait, Obesity |
ORPHA:85293 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Tremor, Ataxia |
OMIM:278760 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dystonia, Lethargy, Gliosis, Chorea, Ataxia |
OMIM:618321 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... |
ORPHA:401768 |
| Spinocerebellar Ataxia Type 36 |
|
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... |
ORPHA:276198 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Lethargy, Dystonia, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis |
OMIM:233910 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Abnormal pyramidal sign, Spastic paraparesis, Failure to thrive |
OMIM:260600 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Tremor, Gait ataxia, Clumsiness, Chorea, Spastic hemiparesis, Slurred speech, Abnor... |
ORPHA:282166 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor |
OMIM:254900 |
| L-2-Hydroxyglutaric Aciduria |
|
Spastic tetraparesis, Abnormal pyramidal sign, Gliosis, Abnormality of extrapyramidal motor function |
OMIM:236792 |
| Dopa-Responsive Dystonia |
|
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... |
ORPHA:255 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Unsteady gait, Limb hypertonia, ... |
ORPHA:442835 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Babinski sign, Spastic dysarthria, Spastic paraparesis, Dysmetria |
OMIM:616680 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Spastic paraparesis, Gait disturbance, Distal sensory impairment, Babinski sign, Clasp-knife sign... |
ORPHA:101076 |
| Oromandibular Dystonia |
|
Hyperkinetic movements, Blepharospasm, Weight loss, Lingual dystonia, Laryngeal dystonia, Tortico... |
ORPHA:93958 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Spastic paraparesis, Loss of ability to walk, Lower limb hypertonia, Spastic tetraparesis, Ataxia... |
ORPHA:3208 |
| Paget Disease Of Bone 2, Early-Onset |
|
Long-tract signs, Paraparesis, Tetraparesis |
OMIM:602080 |
| Coasy Protein-Associated Neurodegeneration |
|
Difficulty walking, Oromandibular dystonia, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
| Supranuclear Palsy, Progressive, 1 |
|
Tremor, Axial dystonia, Eyelid apraxia, Gliosis, Akinesia, Bradykinesia, Falls, Parkinsonism, Lim... |
OMIM:601104 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy |
OMIM:619092 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... |
ORPHA:228360 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria |
OMIM:610185 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Opisthotonus, Extrapyramidal dyskinesia, Gliosis |
OMIM:277470 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ability to walk, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Degeneration of anterior horn cells, Parkinsonism, Gliosis, Trophic limb changes |
OMIM:118301 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... |
ORPHA:280219 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:619279 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... |
OMIM:606324 |
| Peroxisome Biogenesis Disorder 5B |
|
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria |
OMIM:614867 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Gliosis, Hypertonia, Ataxia, Paralysis, Myoclonus, Failure to thrive |
OMIM:203700 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Paresthesia, Weight loss |
ORPHA:298 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity |
ORPHA:1170 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Supranuclear Palsy, Progressive, 2 |
|
Postural tremor, Eyelid apraxia, Axial dystonia, Gliosis, Akinesia, Bradykinesia, Falls, Parkinso... |
OMIM:609454 |
| Parkinsonism-Dystonia, Infantile, 2 |
|
Tremor, Gait ataxia, Dystonia, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait |
OMIM:618049 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Spastic tetraplegia, Cachexia, Hyperesthesia |
ORPHA:371364 |
| Dentatorubral Pallidoluysian Atrophy |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... |
ORPHA:101 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis |
ORPHA:330050 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... |
ORPHA:363400 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Tremor, Dystonia, Truncal ataxia, Gait ataxia, Limb ataxia, Oculomotor apraxia, Ataxia, Distal se... |
OMIM:208920 |
| Amyotrophic Lateral Sclerosis 1 |
|
Pseudobulbar paralysis, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Fasci... |
OMIM:105400 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity |
OMIM:618718 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Weight loss, Cachexia, Distal sensory impairment |
OMIM:603041 |
| Spinocerebellar Ataxia 8 |
|
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Dyskinesia, Familial, With Facial Myokymia |
|
Chorea, Dystonia, Limb hypertonia, Resting tremor |
OMIM:606703 |
| Neurofibromatosis, Familial Spinal |
|
Paraparesis, Spinal cord tumor |
OMIM:162210 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Lethargy, Failure to thrive, Ataxia |
OMIM:201100 |
| Whipple Disease |
|
Myoclonus, Abnormal pyramidal sign, Cachexia, Ataxia |
ORPHA:3452 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Difficulty walking, Babinski s... |
OMIM:500013 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Spastic tetraplegia, Head titubation, Gliosis |
ORPHA:3240 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Mannosidosis, Alpha B, Lysosomal |
|
Gait ataxia, Gliosis, Limb ataxia, Abnormal pyramidal sign, Spinocerebellar tract disease in lowe... |
OMIM:248500 |
| Fragile X Tremor/Ataxia Syndrome |
|
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, A... |
OMIM:300623 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent han... |
ORPHA:544254 |
| 4H Leukodystrophy |
|
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... |
ORPHA:289494 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive extrapyramidal movement disorder, Progressive gait ataxia, Progressive spastic quadri... |
ORPHA:329308 |
| Ataxia-Telangiectasia |
|
Tremor, Gait disturbance, Ataxia, Failure to thrive, Spasticity |
ORPHA:100 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... |
ORPHA:420485 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Pyruvate Dehydrogenase Deficiency |
|
Tremor, Lethargy, Dystonia, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... |
ORPHA:765 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Tremor, Axial dystonia, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:240071 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction |
OMIM:612577 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Hypertonia, Ataxia, Athetosis |
OMIM:617106 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Ataxia, Spinal cord compression, Myoclonus, Failure to thrive |
OMIM:256700 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Impaired distal vibration sensation, Dis... |
ORPHA:99027 |
| Multiple System Atrophy |
|
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... |
ORPHA:102 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity |
ORPHA:529665 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Babinski sign, Stereotypy, Spasticity |
OMIM:612069 |
| Amyotrophic Lateral Sclerosis 18 |
|
Fasciculations, Amyotrophic lateral sclerosis, Spasticity |
OMIM:614808 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Ataxia, Spasticity |
ORPHA:220295 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormality of the dorsal column of the spinal cord, Abnormal pyramidal sign, Lower limb ... |
ORPHA:447753 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Gliosis, Upper limb spasticity, Ataxia, Lower limb spasticity, Tongue fascicul... |
OMIM:617193 |
| Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... |
OMIM:607060 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Inability to walk, Spastic paraparesis, Difficulty walking, Abnormal pyramidal sign, Ataxia, Impa... |
ORPHA:254930 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Increased body weight |
ORPHA:276608 |
| Multiple Carboxylase Deficiency |
|
Spinal cord posterior columns myelin loss, Lethargy, Spastic paraparesis, Ataxia |
ORPHA:148 |
| Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, Abnormal oligodendroglia morphology, Paresthesia, Weakness due to upper motor neuron... |
ORPHA:217260 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Sp... |
OMIM:618060 |
| Parkinson Disease, Late-Onset |
|
Tremor, Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Subst... |
OMIM:168600 |
| Lissencephaly, X-Linked, 2 |
|
Gliosis, Spasticity |
OMIM:300215 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Paraparesis, Paraplegia, Hemiparesis, Failure to thrive in infancy |
ORPHA:79124 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... |
ORPHA:227510 |
| Leigh Syndrome |
|
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Chorea, Hyperkinetic movements, ... |
ORPHA:506 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Abnormal ... |
ORPHA:52368 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... |
ORPHA:247234 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Small for gestational age, Weight loss, Hyperactivity |
ORPHA:424 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Tremor, Dystonia, Cogwheel rigidity, Abnormality of extrapyramidal motor fun... |
ORPHA:79139 |
| Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:391 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Spastic paraparesis, Unsteady gait, Truncal obesity, Dysmetria, Hand tremor |
ORPHA:3041 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity |
OMIM:611895 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations, Amyotrophic lateral sclerosis |
OMIM:619141 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Inability to walk, Spastic paraparesis, Difficulty walking, Gait disturbance, Lower limb spastici... |
ORPHA:280229 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Ataxia, Weight loss |
ORPHA:79242 |
| Central Diabetes Insipidus |
|
Failure to thrive, Lethargy, Weight loss |
ORPHA:178029 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Spastic paraparesis, Gait disturbance, Atrophy of the spinal cord, Hemiparesis, Ataxia,... |
ORPHA:395 |
| Farber Disease |
|
Paraparesis, Myoclonus, Failure to thrive, Spasticity |
ORPHA:333 |
| Fatal Familial Insomnia |
|
Weight loss, Myoclonus, Ataxia |
OMIM:600072 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Blepharospasm, Torticollis, Torsion dystonia |
OMIM:224500 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Fasciculations, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... |
ORPHA:98933 |
| Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder |
ORPHA:3375 |
| Rhabdoid Tumor |
|
Hemiplegia, Cerebral palsy, Weight loss |
ORPHA:69077 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... |
ORPHA:225147 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
| Waardenburg Syndrome, Type 4A |
|
Spastic paraparesis, Ataxia |
OMIM:277580 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... |
ORPHA:420492 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Sneddon Syndrome |
|
Chorea, Tremor, Hemiparesis |
ORPHA:820 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Neuroferritinopathy |
|
Dystonia, Difficulty walking, Chorea, Palatal myoclonus, Blepharospasm, Resting tremor, Bradykine... |
ORPHA:157846 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Hypertonia, Dystonia |
OMIM:617248 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss, Hyperactivity |
OMIM:275000 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis, Spasticity |
OMIM:616239 |
| Bilateral Perisylvian Polymicrogyria |
|
Pseudobulbar paralysis, Oromotor apraxia, Paraparesis, Limb hypertonia, Lower limb spasticity, Sp... |
ORPHA:98889 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Blepharospasm, Myoclonus, Ataxia |
OMIM:607876 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Tremor, Tetraparesis, Ataxia |
OMIM:617186 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity, Tremor, Spastic diplegia, Dystonia |
ORPHA:480907 |
| Parkinson Disease 21 |
|
Tremor, Parkinsonism, Rigidity, Bradykinesia |
OMIM:616361 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis, Dysdiadochokinesis, Dystonia, Truncal ataxia, Spastic paraparesis, Difficulty walki... |
ORPHA:309854 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss, Hyperactivity |
ORPHA:99819 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Gait disturbance, Tremor, Hypertonia |
ORPHA:1192 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia |
ORPHA:36387 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia |
OMIM:175500 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Dystonia, Gliosis, Chorea, Hyperkinetic movements, Oculomotor apraxia, Action ... |
ORPHA:404454 |
| Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
| Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Paraparesis, Abnormal spinal dura mater morphology, Spinal cord comp... |
ORPHA:449427 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal lower motor neuro... |
OMIM:606070 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| Oculodentodigital Dysplasia |
|
Paraparesis, Tetraparesis, Ataxia, Spasticity |
OMIM:164200 |
| Familial Colorectal Cancer Type X |
|
Paresthesia, Gait disturbance, Hypertonia, Glioblastoma multiforme, Abnormal pyramidal sign, Weig... |
ORPHA:440437 |
| Cockayne Syndrome |
|
Inability to walk, Gliosis, Progressive gait ataxia, Difficulty walking, Gait disturbance, Hypert... |
ORPHA:191 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Obesity, Tongue thrusting, Recurrent hand flapping, Hyperactivity, Myoclonus, Gai... |
ORPHA:98794 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Lethargy, Weight loss |
OMIM:143880 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Progressive gait ataxia, Chorea, Abnorma... |
OMIM:606002 |
| Classic Phenylketonuria |
|
Hemiplegia, Tremor, Hypertonia, Paraplegia, Attention deficit hyperactivity disorder |
