| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... |
ORPHA:95434 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia |
OMIM:618093 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... |
OMIM:611637 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss, Dystonia |
ORPHA:98934 |
| Juvenile Primary Lateral Sclerosis |
|
Spasticity, Abnormal upper motor neuron morphology, Gait imbalance, Abnormal pyramidal sign, Spas... |
ORPHA:247604 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... |
OMIM:614561 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... |
ORPHA:275872 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Difficulty walking, Babinski sign,... |
ORPHA:320370 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism... |
OMIM:105550 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gliosis, Ataxia, Unstead... |
OMIM:213200 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Gait disturbance, Gliosis, Tetraplegia, D... |
OMIM:604484 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis |
OMIM:300857 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... |
ORPHA:726 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia |
ORPHA:99014 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Bradykinesia, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetri... |
OMIM:607136 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia |
ORPHA:2815 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Tremor, Distal sensory impairm... |
OMIM:606693 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Tremor, Distal sensory ... |
OMIM:302800 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Arm dystonia, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk,... |
ORPHA:300605 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Appendicular spasticity, Loss of ... |
OMIM:606353 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Impaired pain sensation, Impaired temperature sensation, Abnormal m... |
DECIPHER:29 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Bradykinesia, Incoordination, Limb ataxia, Gait ataxia, Limb... |
OMIM:615157 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spasticity, Gait imbalance, Gait ataxia, Spastic ataxia, Gait disturbance, Gliosis, Torticollis, ... |
OMIM:618369 |
| Huntington Disease |
|
Chorea, Gait ataxia, Rigidity, Gliosis, Bradykinesia |
OMIM:143100 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Shuffling gait, Spasticity, Somatic sensory dysfunction, Rigidity, Parkinsonism, Gait disturbance... |
OMIM:221820 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... |
OMIM:205100 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Paraparesis, Distal sensory impairment |
OMIM:302802 |
| Alexander Disease Type I |
|
Spasticity, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Palatal tremor |
ORPHA:363717 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... |
OMIM:607483 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Spastic paraparesis, Choreoathetosis, Ataxia |
ORPHA:67047 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... |
OMIM:605407 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Huntington Disease-Like 1 |
|
Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines... |
ORPHA:157941 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... |
ORPHA:2590 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations |
OMIM:615048 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Tremor, Cogwheel rigidity, Gait di... |
ORPHA:363710 |
| Juvenile Huntington Disease |
|
Broad-based gait, Bradykinesia, Chorea, Gait ataxia, Myoclonus, Rigidity, Weight loss, Ataxia, Dy... |
ORPHA:248111 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Ataxia |
OMIM:613662 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
| Primary Lateral Sclerosis |
|
Spasticity, Progressive spastic paraparesis, Abnormal upper motor neuron morphology, Cervical spi... |
ORPHA:35689 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Incoordination, Babinski sign, Apraxia, Gait disturbance... |
OMIM:248900 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Spasticity, Bradykinesia, Inability to walk, Myoclonus, Clumsiness, Paraparesis... |
OMIM:617854 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ... |
OMIM:128230 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Truncal obesity, Increased... |
OMIM:300957 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, Spinocerebellar tract degeneration, Facial-lingual fasc... |
OMIM:109150 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Tip-toe gait, Failure to thrive, Gait ataxia, Dysmetria, Rigidit... |
OMIM:614877 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... |
ORPHA:101077 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Failure to thrive, Tetraparesis, Spastic tetraparesis, Astrocytosis, Gait ataxia, Cog... |
ORPHA:225154 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... |
ORPHA:101110 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal sensory impairment, Tremor |
OMIM:614369 |
| Huntington Disease-Like 2 |
|
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia |
OMIM:606438 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign,... |
ORPHA:204 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... |
OMIM:613647 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Myoclonus, Tremor, Ataxia |
ORPHA:97229 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen... |
OMIM:263570 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... |
ORPHA:98762 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:612437 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Difficulty walking, Inability to walk, Dystonic gait, Lower limb spasticity, G... |
ORPHA:280210 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Small for gestational age, Tremor, Ataxia |
OMIM:278780 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Scis... |
OMIM:260300 |
| Boucher-Neuhauser Syndrome |
|
Spasticity, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Intention tremor |
OMIM:215470 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
| Developmental And Epileptic Encephalopathy 14 |
|
Tetraplegia, Spasticity, Clonus, Gliosis |
OMIM:614959 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... |
OMIM:613672 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Pelizaeus-Merzbacher Disease |
|
Spasticity, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Dystonia, Choreoath... |
ORPHA:702 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... |
OMIM:610245 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... |
OMIM:600363 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... |
ORPHA:314978 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Bradykinesia, Progressive ext... |
ORPHA:454887 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Gait ataxia, ... |
OMIM:600116 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia, Gait distu... |
OMIM:221770 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Christianson Syndrome |
|
Truncal ataxia, Dystonia, Cachexia, Gait ataxia |
ORPHA:85278 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... |
OMIM:601162 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Tremor, Ataxia |
OMIM:618951 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia |
ORPHA:140989 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity, Limb dystonia, Tremor, Ataxia |
OMIM:620270 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... |
ORPHA:444099 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Progressive... |
ORPHA:254343 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Difficulty walking, Fasciculations, Ankl... |
OMIM:613954 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor |
OMIM:302500 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Spinocerebellar tract degeneration, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity,... |
OMIM:617916 |
| Leigh Syndrome, Nuclear |
|
Spasticity, Failure to thrive, Gliosis, Ataxia, Dystonia |
OMIM:256000 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Tremor, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis |
OMIM:607458 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Distal sens... |
OMIM:617225 |
| X-Linked Creatine Transporter Deficiency |
|
Chorea, Cachexia, Hypertonia, Ataxia, Dystonia, Athetosis |
ORPHA:52503 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... |
ORPHA:98763 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Myoclonus, Gliosis, Hypertonia |
OMIM:225753 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... |
ORPHA:276435 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Spastic paraparesis, Tip-toe gait, Bradykinesia, Rigidity, Gait disturbance, Oromandibular dyston... |
OMIM:615643 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Gait disturbance |
ORPHA:157973 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Overweight, Upper limb spasticity |
ORPHA:457240 |
| Huntington Disease |
|
Involuntary movements, Decreased body mass index, Bradykinesia, Difficulty walking, Inability to ... |
ORPHA:399 |
| Isaacs Syndrome |
|
Weight loss, Distal sensory impairment, Fasciculations |
ORPHA:84142 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Gait disturbance, Abnormal ... |
OMIM:213600 |
| Myelopathy, Htlv-1-Associated |
|
Spastic paraparesis, Myelopathy, Abnormal pyramidal sign |
OMIM:159580 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Difficulty walking, Inability to walk, Paucity of anterio... |
OMIM:611890 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait disturbance, Park... |
ORPHA:314632 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, ... |
ORPHA:521406 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Tetraparesis, Choreoathetosis, Ataxia |
ORPHA:27 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Failure to thrive, Tremor |
OMIM:619651 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation, Parkinsoni... |
OMIM:168601 |
| X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... |
ORPHA:43 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis |
ORPHA:101005 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Spinocerebellar tract degeneration, Substantia nigra gliosis, Abnormal lower motor ne... |
ORPHA:276244 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor |
OMIM:619561 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... |
OMIM:300423 |
| Hemimegalencephaly |
|
Myoclonus, Abnormal neuron morphology, Gliosis, Hemiparesis |
ORPHA:99802 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis |
ORPHA:496756 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Gliosis, Distal sensory impairment, Abnormality of extrapyramidal motor function |
OMIM:604218 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... |
OMIM:602099 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101075 |
| Rett Syndrome |
|
Spasticity, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia, Dystonia |
OMIM:312750 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Difficulty walking, Abnormal lower motor neuron morphology, Babins... |
OMIM:602433 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis |
OMIM:614373 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Failure to thr... |
OMIM:238970 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Spastic tetraplegia |
OMIM:612936 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Gait disturbance, Gliosis, Spasticity |
OMIM:603896 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Hippocampal sclerosis, Tremor |
OMIM:615400 |
| Hsd10 Disease |
|
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis |
ORPHA:391417 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia |
OMIM:128235 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Resting tremor, Bradykinesia, Akinesia, Rigidity, Parkinsonism, Parkinsonism with... |
ORPHA:411602 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Dysmetria, Loss of ambulation, Babinski sign, Abnormal pyramidal... |
OMIM:616680 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Inability to walk, Gliosis, Ataxia, Cerebellar gliosis, Dystonia, Basa... |
ORPHA:79243 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Spasticity, Inability to walk, Failure to thrive in infancy, Cachexia, Hypertonia |
OMIM:616801 |
| Adrenoleukodystrophy |
|
Spastic paraplegia, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, Impaired vibration ... |
OMIM:300100 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Hemiparesis |
OMIM:613002 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Shuffling gait, Spasticity, Pill-rolling tremor, Bradykinesia, Rigidity, Loss of ambulation, Park... |
OMIM:615528 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia |
OMIM:614018 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia |
OMIM:618387 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Bradykinesia... |
ORPHA:391411 |
| Gerstmann-Straussler Disease |
|
Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsonism, Apraxia, Weight ... |
OMIM:137440 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet... |
ORPHA:506353 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Small for gestational age, Gliosis, Hypertonia |
OMIM:615095 |
| Flynn-Aird Syndrome |
|
Cachexia, Impaired pain sensation, Ataxia |
ORPHA:2047 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia |
ORPHA:1933 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Rigidity, Gait disturbance |
OMIM:618090 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... |
OMIM:617145 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... |
ORPHA:284324 |
| Lichtenstein-Knorr Syndrome |
|
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis |
OMIM:616291 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Generalized dystonia, Spastic tetraparesis, Cerebral palsy, Spastic ataxia, Pa... |
OMIM:620358 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101078 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| L-2-Hydroxyglutaric Aciduria |
|
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gliosis, Ataxia, Spastic t... |
OMIM:236792 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Small for gestational age, Cerebral palsy, Limb dystonia, Myoclonus, Opisthotonus, Ba... |
OMIM:619847 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Hypertonia |
ORPHA:1389 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Autosomal Spastic Paraplegia Type 58 |
|
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... |
ORPHA:397946 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia |
OMIM:609260 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Dysmetria, Tremor, Impaired tandem gait, Lower limb spasticity, Ataxia |
OMIM:619028 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Bradykinesia, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hyperto... |
OMIM:261640 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, Dysmetria, Babinski ... |
ORPHA:93952 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Obesity, Abnormality of extrapyramidal motor function, Parkinsonism, Gait dist... |
ORPHA:2822 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, Loss of ambulation, ... |
ORPHA:137898 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I... |
ORPHA:206443 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia... |
OMIM:614487 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:240103 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Opisthotonus, Gait disturbance... |
ORPHA:216866 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair... |
OMIM:616719 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Abnormal ... |
OMIM:614298 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morpholog... |
ORPHA:100070 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
| Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic paraparesis, Spastic tetraplegia, Decreased body weight |
OMIM:618721 |
| Perry Syndrome |
|
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Perry Syndrome |
|
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss... |
OMIM:168605 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Gait ataxia, Limb dystonia, Craniofacial dystonia, Parkinsonism, Torticollis, Bra... |
ORPHA:71517 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Spastic t... |
OMIM:607225 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Gliosis, Unsteady gait, Dystonia |
ORPHA:683 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia |
OMIM:618587 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Tremor, Waddling gait |
OMIM:616269 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ataxia, Truncal ataxia, Int... |
OMIM:610185 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
| Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... |
ORPHA:98764 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Shuffling gait, Spasticity, Spastic paraparesis, Hand tremor, Bradykinesia, Rigidity, Babinski si... |
ORPHA:289560 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Spasticity, Failure to thrive, Tetraparesis, Antalgic gait, Tremor |
OMIM:620546 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... |
OMIM:616795 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... |
OMIM:616710 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Paraparesis, Abnormal spinal cord morphology |
ORPHA:53721 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability ... |
OMIM:312080 |
| Amyotrophic Lateral Sclerosis |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Cachexia, Mo... |
ORPHA:803 |
| Tay-Sachs Disease |
|
Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Incoordination, Fasciculations, Myoc... |
ORPHA:845 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant... |
OMIM:159950 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Difficulty walking,... |
ORPHA:53351 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations, Abnormal motor neuron morphology, Upper motor neur... |
ORPHA:52430 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Pseudobulbar paralysis, Babinski sign, Gliosis, Ataxia |
OMIM:169500 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Ataxia, Dystonia... |
OMIM:608804 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Tremor, Ataxia |
OMIM:300983 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Myoclonic spasms, At... |
ORPHA:79263 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Oculomotor apraxia, Ataxia, Dystonia, Spas... |
ORPHA:313772 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Rigidity, Babinski sign, Clonus, Gliosis, Hypertonia, Myoclonic spasms, Limb hypertonia |
OMIM:614498 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Ataxia |
ORPHA:42 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Fre... |
ORPHA:99750 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Spinocerebellar tract degeneration, Bradykinesia, Fasci... |
OMIM:183090 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... |
ORPHA:240085 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dyston... |
ORPHA:352649 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Babinski sign, Dystonia, Cachexia, Spasticity |
OMIM:618186 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Inability to walk, Gait ataxia, Dysmetria, Tremor, Apraxia |
OMIM:617810 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Tremor, Rigidity, Hypertonia, Ataxia |
ORPHA:33445 |
| Arachnoid Cyst |
|
Tetraparesis, Inability to walk, Spinal arachnoid cyst, Paresthesia, Distal sensory impairment, H... |
ORPHA:2356 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Tremor, Spastic tetraparesis |
OMIM:619470 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:613435 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... |
OMIM:613135 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Spasticity, Spastic paraparesis, Loss of ambulation, Babinski sign, Weight loss, Ataxia, Spastic ... |
ORPHA:3208 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss |
ORPHA:98897 |
| Familial Acute Necrotizing Encephalopathy |
|
Spasticity, Rigidity, Gait disturbance, Gliosis, Hypertonia, Spastic tetraplegia |
ORPHA:88619 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Spastic tetraplegia, Tetraplegia, Gliosis, Hypertonia |
OMIM:608033 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Gliosis, Ataxia, Unsteady gait, Spastic tetraplegia |
OMIM:256600 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Head tremor, Chorea, Action tremor, Myoclonus, Apraxia, Ataxia |
OMIM:620158 |
| Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... |
OMIM:210000 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Infantile Krabbe Disease |
|
Hyperesthesia, Spasticity, Failure to thrive, Myoclonus, Ankle clonus, Opisthotonus, Cachexia, Lo... |
ORPHA:206436 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Bradykinesia, Obesity, T... |
OMIM:300055 |
| Coasy Protein-Associated Neurodegeneration |
|
Difficulty walking, Parkinsonism, Spastic paraparesis, Oromandibular dystonia |
ORPHA:397725 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Distal sensory impairment, T... |
ORPHA:90117 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| Phenylketonuria |
|
Lower limb spasticity, Tremor, Ataxia |
ORPHA:716 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616437 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia |
ORPHA:330050 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Gait disturbance |
ORPHA:2774 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Tremor, Rigidity, Ba... |
OMIM:606159 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Dysmetria, Ankle clonus, Babinski si... |
OMIM:275900 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... |
ORPHA:401768 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
ORPHA:329284 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, Tremor, Babinski sign, Steppage gai... |
OMIM:616505 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Failure to thrive, Inability to walk, Tremor, Hypertonia, Ataxia |
OMIM:619556 |
| Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia |
OMIM:603472 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia |
OMIM:619738 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Bradykinesia, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigid... |
OMIM:618877 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Opisthotonus, Gliosis, Dystonia, Extrapyramidal dyskinesia |
OMIM:277470 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Spastic paraparesis, Myoclonus, Ataxia |
OMIM:231000 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Myelopathy, Somatic sensory dysfunction, Resting tremor, Abnorma... |
ORPHA:909 |
| Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... |
ORPHA:3095 |
| Alexander Disease Type Ii |
|
Spasticity, Spastic paraparesis, Cervical spinal cord atrophy, Rigidity, Babinski sign, Ataxia, P... |
ORPHA:363722 |
| Poliomyelitis |
|
Myelitis, Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Para... |
ORPHA:2912 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Tremor, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... |
ORPHA:96 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Distal sensory impairment, Gait disturbance, Steppage gait, Tremor |
OMIM:118300 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spast... |
ORPHA:3077 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Spasticity, Gliosis |
ORPHA:168486 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... |
OMIM:616586 |
| Amyotrophic Lateral Sclerosis 11 |
|
Upper motor neuron dysfunction, Somatic sensory dysfunction, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormality of coordina... |
ORPHA:442835 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tip-toe gait, Abnormal astrocyte morphology, Tremor, Babinski sign, Gait dist... |
ORPHA:83629 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... |
OMIM:619911 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Tip-toe gait, Generalized dystonia, Bradykinesia, Inability to walk, Limb dystonia, T... |
OMIM:617013 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Positive Romberg sign, Intention tremor, Dysmetria, Myoclonus, Babinski sign, Gait disturbance, C... |
OMIM:301310 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Astrocytosis... |
OMIM:601104 |
| Adult Krabbe Disease |
|
Broad-based gait, Spasticity, Acroparesthesia, Somatic sensory dysfunction, Tetraparesis, Progres... |
ORPHA:206448 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ambulation, Oculomot... |
OMIM:208920 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hyperesthesia, Severe failure to thrive, Cachexia, Spastic tetraplegia |
ORPHA:371364 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function... |
OMIM:613280 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma... |
ORPHA:70594 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... |
ORPHA:98773 |
| Oromandibular Dystonia |
|
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W... |
ORPHA:93958 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:542310 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... |
OMIM:609270 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gai... |
OMIM:617435 |
| Spinocerebellar Ataxia With Epilepsy |
|
Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... |
ORPHA:254881 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Clasp-knife sign, Spastic paraparesis, Hand tremor, Distal sensory impairment, Babinski sign, Gai... |
ORPHA:101076 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:300894 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia |
OMIM:612126 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Chorea, Gait ataxia, Myoclonus, Gliosis, Ataxia, Dystonia, Spastic tetraplegia |
OMIM:618321 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Ataxia |
OMIM:612016 |
| Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Hypertonia, Tremor, Ataxia |
OMIM:617106 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia, Rigidity, Parkinso... |
OMIM:609454 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Cachexia, Obesity, Tremor |
ORPHA:85293 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Paresthesia, Weight loss |
ORPHA:298 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Chorea, Astrocytosis, Gait ataxia, Spastic hemipare... |
ORPHA:282166 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Dissociated sensory loss, ... |
ORPHA:139417 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... |
ORPHA:101 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Tremor, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dystonia |
OMIM:607694 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Dystonia, Tremor, Rigidity |
OMIM:615010 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Fasciculations, Degeneration o... |
OMIM:105400 |
| Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Myelitis, Myelopathy, Somatic sensory dysfunction, Progressive spastic parap... |
ORPHA:79093 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Loss of ambulation, Abnormal pyra... |
OMIM:608627 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Gait ataxia, Myoclonus, Appendicular spasticity, Gliosis, Ataxia, Exaggerated... |
OMIM:620451 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Falls, Generalized dystonia, Progressive spastic paraplegia, Progressive spastic paraparesis, Los... |
ORPHA:329308 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Babinski sign, Sensory ata... |
OMIM:500013 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Spastic tetraplegia, Head titubation, Gliosis, Vestibular areflexia |
ORPHA:3240 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment... |
ORPHA:206594 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Dystoni... |
OMIM:619725 |
| Peroxisome Biogenesis Disorder 5B |
|
Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
| 4H Leukodystrophy |
|
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... |
ORPHA:289494 |
| Whipple Disease |
|
Cachexia, Abnormal pyramidal sign, Myoclonus, Ataxia |
ORPHA:3452 |
| Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Dysdiadochokinesis, Resting tremor, Postural tremor, Gait ataxia, A... |
OMIM:300623 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis |
OMIM:312170 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait |
ORPHA:209335 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Gliosis, Failure to thrive |
OMIM:214150 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Spina bifida occulta... |
OMIM:618060 |
| Saccharopinuria |
|
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia |
ORPHA:3124 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... |
OMIM:612953 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hypertonia, Ataxia |
OMIM:619092 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Periodic paralysis, Tremor |
OMIM:613239 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Difficulty walking, Ankle clonus, Gliosis, Dystonia |
OMIM:618222 |
| Mannosidosis, Alpha B, Lysosomal |
|
Spasticity, Spinocerebellar tract disease in lower limbs, Limb ataxia, Gait ataxia, Babinski sign... |
OMIM:248500 |
| Multiple System Atrophy |
|
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... |
ORPHA:102 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... |
OMIM:619574 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Myoclonus, Weight loss, Spinal cord compression, Ataxia |
OMIM:256700 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Tongue fasciculations, Cataplexy, Inability to walk, Lower limb spasticity, Gliosis, Ataxia, Uppe... |
OMIM:617193 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... |
ORPHA:420492 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Prune1-Related Neurological Syndrome |
|
Tongue fasciculations, Spastic paraparesis, Inability to walk, Clonus, Spastic tetraparesis |
ORPHA:544469 |
| Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Gait ataxia, Limb dystonia, Tremor, Myoclonus,... |
ORPHA:363400 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Leigh Syndrome |
|
Spasticity, Involuntary movements, Failure to thrive, Chorea, Abnormality of extrapyramidal motor... |
ORPHA:506 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Bradykinesia, Akinesia, Gait ... |
ORPHA:240071 |
| Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis |
OMIM:300215 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Spasticity, Postural tremor, Myoclonus, Babinski sign, Gliosis, Truncal obesity, Ataxia, Truncal ... |
OMIM:301072 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia |
ORPHA:529665 |
| Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
| Ataxia-Telangiectasia |
|
Spasticity, Failure to thrive, Tremor, Gait disturbance, Ataxia |
ORPHA:100 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Cachexia, Ataxia |
ORPHA:220295 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Torticollis, Write... |
OMIM:128100 |
| Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:391 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... |
ORPHA:79139 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... |
OMIM:105210 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis |
OMIM:617892 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Substantia nigra gliosis, Rig... |
OMIM:168600 |
| Developmental And Epileptic Encephalopathy 46 |
|
Limb hypertonia, Failure to thrive, Tremor |
OMIM:617162 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Spastic paraparesis, Failure to thrive, Difficulty walking, Inability to walk, Distal sensory imp... |
ORPHA:254930 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... |
ORPHA:99027 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis |
OMIM:233910 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Paraplegia, Paraparesis, Hemiparesis |
ORPHA:79124 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Spastic paraparesis, Hand apraxia, Difficulty walking, Inability to walk, Babinski sign, Gait dis... |
ORPHA:280229 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Farber Disease |
|
Spasticity, Paraparesis, Myoclonus, Failure to thrive |
ORPHA:333 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal... |
ORPHA:447753 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Atrophy/Degeneration involving the spinal cord, Broad-based gait, Positive Romberg sign, Gait ata... |
OMIM:607459 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia, ... |
ORPHA:765 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
| Fatal Familial Insomnia |
|
Weight loss, Myoclonus, Ataxia |
OMIM:600072 |
| Amyotrophic Lateral Sclerosis 9 |
|
Spasticity, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr... |
ORPHA:52368 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Babinski sign, Parkinsonism, Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Decreased... |
OMIM:615273 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Gliosis, Limb dystonia, Basal ganglia gliosis |
OMIM:604377 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Bradykinesia, Tremor, Rigidi... |
OMIM:615530 |
| Bilateral Perisylvian Polymicrogyria |
|
Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Dysmetria, Paraparesis, Lower limb spastici... |
ORPHA:98889 |
| Progressive Multifocal Leukoencephalopathy |
|
Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dysmetria, ... |
ORPHA:217260 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Inability to walk, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, O... |
ORPHA:404454 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Distal sensory impairment, Cachexia, Weight loss, Hypoesthesia, Allodynia |
OMIM:603041 |
| Majeed Syndrome |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Spastic paraparesis, Hand tremor, Dysmetria, Truncal obesity, Unsteady gait |
ORPHA:3041 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, ... |
OMIM:614381 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia |
OMIM:175500 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Spastic paraparesis, Abnormal pyramidal sign, Failure to thrive, Appendicular spasticity |
OMIM:260600 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Rhabdoid Tumor |
|
Hemiplegia, Weight loss, Cerebral palsy |
ORPHA:69077 |
| Cockayne Syndrome |
|
Spasticity, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Action tremor, Pr... |
ORPHA:191 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Failure to thrive, Inability to walk, Gait ataxia, Dysmetria, Tremor, Appendicu... |
OMIM:617988 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
| Waardenburg Syndrome, Type 4A |
|
Spastic paraparesis, Ataxia |
OMIM:277580 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Tetraparesis, Astrocytosis, Myoclonus, Paralysis, Gliosis, Hypertonia, Ataxia |
OMIM:203700 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Tremor |
OMIM:612164 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss, Ataxia |
ORPHA:79242 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Tremor, Dystonia, Choreoathetosis |
OMIM:617664 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Amyotrophic lateral sclerosis |
OMIM:612069 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Spastic paraparesis, Failure to thrive, Hemiparesis, Gait disturbance, Atrophy of the spinal cord... |
ORPHA:395 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Gliosis |
OMIM:616239 |
| Igg4-Related Pachymeningitis |
|
Abnormal spinal dura mater morphology, Paraparesis, Spinal cord compression, Somatic sensory dysf... |
ORPHA:449427 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Bradykinesia, Difficulty walking, Astrocytosis, Action tremor, Rigidity, Gai... |
ORPHA:309854 |
| Non-Functioning Paraganglioma |
|
Weight loss, Vocal cord paralysis, Tremor |
ORPHA:94080 |
| Gm1 Gangliosidosis |
|
Spasticity, Decerebrate rigidity, Generalized dystonia, Failure to thrive, Tremor, Abnormality of... |
ORPHA:354 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Tongue fasciculations, Abnormal anterior horn cell morphology, Degeneration of anterior horn cells |
ORPHA:1145 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... |
OMIM:606002 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Athetosis, Spastic tetraplegia |
OMIM:617710 |
| Oculodentodigital Dysplasia |
|
Spasticity, Paraparesis, Tetraparesis, Ataxia |
OMIM:164200 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Tremor, Ataxia |
OMIM:278760 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Distal sensory im... |
OMIM:606070 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Familial Colorectal Cancer Type X |
|
Paresthesia, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Weight loss, Hype... |
ORPHA:440437 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Parkinsonism, Gliosis |
OMIM:606688 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity |
ORPHA:813 |
| Xfe Progeroid Syndrome |
|
Poor coordination, Cachexia, Failure to thrive |
OMIM:610965 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Gliosis, Failure to thrive |
ORPHA:261652 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... |
ORPHA:48818 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
| Neuroblastoma |
|
Myoclonus, Antalgic gait, Weight loss, Spinal cord compression, Ataxia |
ORPHA:635 |
| Fryns-Smeets-Thiry Syndrome |
|
