| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Rigidity, Emotional lability, Spasticity, Limb dystonia, Gait disturbance, Clumsiness, Focal dyst... |
ORPHA:216873 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Gait disturbance, Apathy, Astrocytosis, Restlessness, Disinhibition, Abul... |
ORPHA:275864 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Gait disturbance, Apathy, Astrocytosis, Restlessness, Disinhibition, Fron... |
OMIM:600795 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Tetraparesis, Frequent falls, Gait disturbance, Ataxia, Astrocytosis, Cogwheel rigidi... |
ORPHA:225154 |
| Huntington Disease |
|
Inability to walk, Agitation, Rigidity, Depression, Mental deterioration, Gait imbalance, Poor fi... |
ORPHA:399 |
| Huntington Disease-Like 1 |
|
Restlessness, Anxiety, Rigidity, Chorea, Aggressive behavior, Basal ganglia gliosis, Depression, ... |
OMIM:603218 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Parkinsonism, Ataxia, Anxiety, Rigidity, Chorea, Tremor, Myoclonus, Upper... |
ORPHA:401901 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Ataxia, Falls, Bruxism, Inappropriate laughter, Chorea, Abnormal repetitive ma... |
OMIM:619150 |
| Spinocerebellar Ataxia 17 |
|
Parkinsonism, Limb ataxia, Ataxia, Broad-based gait, Apraxia, Dementia, Frontal lobe dementia, Ri... |
OMIM:607136 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive cerebellar ataxia, Astrocytosis, Progressive forgetfulness, Slurred speech, Vestibula... |
ORPHA:282166 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis |
OMIM:311050 |
| Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Anxiety, Cachexia, Irritability, Chorea, Tremor, Gait ataxia, Dysphagia, Ba... |
OMIM:618093 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Parkinsonism, Gait disturbance, Somatic sensory dysfunction, Apraxia, Frontal lobe de... |
OMIM:221820 |
| Huntington Disease-Like 2 |
|
Apathy, Anxiety, Rigidity, Chorea, Inertia, Bradykinesia, Irritability, Action tremor, Depression... |
OMIM:606438 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Parkinsonism, Hand tremor, Apathy, Cognitive impairment, Anxiety, Postural tremor, Dementia, Moto... |
OMIM:615483 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Paresthesia, Dystonia, Ataxia, Irritability, Chorea, Torsion dystonia, Involuntary movements, Agg... |
ORPHA:98811 |
| Huntington Disease-Like 2 |
|
Parkinsonism, Gait disturbance, Dementia, Memory impairment, Chorea, Involuntary movements, Dysto... |
ORPHA:98934 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spasticity, Frequent falls, Torticollis, Gait disturbance, Apathy, Spastic ataxia, Aggressive beh... |
OMIM:618369 |
| Huntington Disease-Like 1 |
|
Simultanapraxia, Gliosis, Slurred speech, Poor fine motor coordination, Dysmetria, Gait disturban... |
ORPHA:157941 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Athetosis, Dysphagia, Gliosis, Paralysis, Dystonia |
OMIM:300857 |
| Chorea, Benign Hereditary |
|
Frequent falls, Gait disturbance, Anxiety, Dementia, Chorea |
OMIM:118700 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Self-injurious behavior, Stereotypical hand wringing, Dystonia |
OMIM:618760 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Astrocytosis, Cognitive impairment, Dementia, Abnorm... |
ORPHA:204 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Frequent falls, Difficulty walking, Clonus, Motor tics, Paroxysmal choreoathetosis, Chorea, Myocl... |
OMIM:500003 |
| Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Hyperactivity, Broad-based gait, Dementia, Rigidity, Irrit... |
ORPHA:248111 |
| Huntington Disease |
|
Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Depression |
OMIM:143100 |
| Pick Disease Of Brain |
|
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Irritability,... |
OMIM:172700 |
| Sydenham Chorea |
|
Emotional lability, Inappropriate behavior, Unsteady gait, Irritability, Chorea, Compulsive behav... |
ORPHA:306731 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Parkinsonism, Weakness due to upper motor neuron dysfunction, Progressive cerebella... |
ORPHA:275872 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Choreoathetosis, Dy... |
ORPHA:98810 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Emotional lability, Gait disturbance, Dementia, Chorea, Dysphagia |
OMIM:607674 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Anxiety, Focal dystonia, Tremor, Gait ataxia, Dysphagia, Mental deterioration, Fascic... |
ORPHA:309169 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Spasticity, Hyperkinetic movements, Inability to walk, Bruxism, Inappropriate laughter, Oculogyri... |
OMIM:614254 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Unsteady gait, Chorea, Tremor, Hemiballismus |
OMIM:616921 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
| Neurodegeneration With Brain Iron Accumulation |
|
Spasticity, Abnormality of extrapyramidal motor function, Rigidity, Chorea, Optic atrophy, Dystonia |
ORPHA:385 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea |
ORPHA:494541 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Rigidity, Chorea, Dysdiadochokinesis, Br... |
OMIM:213600 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Jerky head movements, Dystonia, Difficulty walking, Spastic dysarthria, Impaired pro... |
ORPHA:251282 |
| Dystonia 11, Myoclonic |
|
Agoraphobia, Torticollis, Alcoholism, Anxiety, Writer's cramp, Tremor, Panic attack, Myoclonus, D... |
OMIM:159900 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Parkinsonism, Ataxia, Dementia, Chorea, Myoclonus, Choreoathetosis, Dystonia |
OMIM:125370 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Unsteady gait, Chorea, Tremor, Hemiballismus |
ORPHA:494526 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Spastic diplegia, Self-injurious behavior, Pica, Abnormal repetitive mannerisms, Aggressive behav... |
OMIM:617270 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depression, Rigi... |
OMIM:619491 |
| Episodic Ataxia, Type 1 |
|
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia |
OMIM:160120 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... |
OMIM:164500 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Abnormal head movements, Abnormality of extrapyramidal motor function, Pro... |
ORPHA:382 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal pyramidal sign, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia,... |
ORPHA:95434 |
| Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Obsessive-compulsive tra... |
ORPHA:66624 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Inappropriate behavior, Spasticity, Gait disturbance, Disinhibition, Apraxia, Abnormal upper moto... |
OMIM:221770 |
| Spinocerebellar Ataxia Type 1 |
|
Gait disturbance, Progressive cerebellar ataxia, Memory impairment, Cognitive impairment, Postura... |
ORPHA:98755 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Ataxia, Cogwheel rigidity, Anxiety, Attention deficit hyperactivity disorder, Motor... |
OMIM:619725 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Abnormal pyramidal sign, Parkinsonism, Hypoesthesia, Ataxia, Memory impairment, Chorea, Dysphagia... |
OMIM:618317 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hyperkinetic movements, Parkinsonism, Impaired social interactions, Ataxia, Anxiety, Chorea, Aggr... |
OMIM:619738 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Spasticity, Ataxia, Abnormality of extrapyramidal motor function, Chorea, Babinski sign, Optic at... |
OMIM:258501 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... |
OMIM:614561 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Spastic tetraparesis, Abnormal repetitive mannerisms, Optic atrophy, Aggre... |
OMIM:619470 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Parkinsonism, Apathy, Paraparesis, Apraxia, Abnormal lower motor neuron morphology,... |
OMIM:105550 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, Unsteady gait, Ataxia, Clumsiness, Cognitive impairment, Motor dete... |
ORPHA:79263 |
| N-Acetylaspartate Deficiency |
|
Self-mutilation, Unsteady gait, Broad-based gait, Abnormal repetitive mannerisms, Decreased body ... |
OMIM:614063 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis, Paroxysmal... |
OMIM:606777 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Spasticity, Impaired social interactions, Inability to walk, Self-injurious behavior, Abnormal re... |
OMIM:617820 |
| Frontotemporal Dementia |
|
Polyphagia, Parkinsonism, Apathy, Disinhibition, Inappropriate laughter, Dementia, Amyotrophic la... |
OMIM:600274 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired social interactions, Unsteady gait, Abnormal repetitive mannerisms, Impaired ability to ... |
OMIM:608636 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Hyperkinetic movements, Self-mutilation, Overweight, Gait disturbance, Anxiety, Tremor, Gliosis, ... |
ORPHA:457240 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Agitation, Anxiety, Failure to thrive, Tremor, Myoclonus, Compulsive behaviors |
OMIM:619651 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... |
ORPHA:71277 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Gait ataxia, Stereotypi... |
OMIM:618917 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hyperkinetic movements, Ataxia, Clonus, Agitation, Restlessness, Oculogyric crisis, Abnormality o... |
ORPHA:13 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Inability to walk, Ataxia, Abnormality of extr... |
OMIM:617672 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Gliosis, Incoordination, Dys... |
OMIM:213200 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Emotional lability, Spasticity, Parkinsonism, Subcortical dementia, Ataxia, Blepharospasm, Disinh... |
OMIM:606159 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Bipolar affective disorder, Anxiety,... |
ORPHA:485350 |
| Striatonigral Degeneration, Infantile |
|
Spasticity, Failure to thrive, Dysphagia, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:271930 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Dysphagia, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Bro... |
OMIM:617862 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Abnormal pyramidal sign, Impaired pain sensation, Inability to walk, Hyperactivity, L... |
ORPHA:500180 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Unsteady gait, Ataxia, Dysphagia, Tremor |
OMIM:615945 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Rabies |
|
Paresthesia, Anxiety, Attention deficit hyperactivity disorder, Vocal cord paresis, Cerebral pals... |
ORPHA:770 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired distal ... |
ORPHA:276435 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Agitation, Anxiety, Hemiplegia, Tremor |
OMIM:141500 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Dysphagia, Gliosis, Myoclonus, Hypertonia |
OMIM:225753 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Hyperkinetic movements, Gait disturbance, Cogwheel rigidity, Rigidity, Chorea, Myoclo... |
OMIM:616981 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Ataxia, Cognitive impairment, Tremor, Babinski sign |
OMIM:611105 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Dysphagia, Paresthesia, Fasciculations |
ORPHA:85162 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Parkinsonism, Chorea |
OMIM:616922 |
| Progressive Supranuclear Palsy |
|
Unsteady gait, Falls, Blepharospasm, Cognitive impairment, Dementia, Rigidity, Memory impairment,... |
ORPHA:683 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Emotional lability, Agitation, Abnormal repetitive mannerisms, Involuntary movements, Aggressive ... |
OMIM:617171 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Anxiety, Chorea, Myoclonus, Resting tremor, Involuntary movements, Choreoathetos... |
OMIM:606703 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Distal sensory impairment, Hand tremor, Tetraplegia, Gliosis, Fasciculations, Degeneration of ant... |
OMIM:604484 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Spinocerebellar Ataxia 43 |
|
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Limb dystonia, Torticollis, Jerky head movements, Postural tremor, Generalized ... |
ORPHA:98807 |
| Spinocerebellar Ataxia Type 2 |
|
Parkinsonism, Kinetic tremor, Progressive cerebellar ataxia, Postural tremor, Dementia, Chorea, G... |
ORPHA:98756 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Athetosis, Involuntary movements, Dystonia |
ORPHA:98809 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Porphyria, Acute Hepatic |
|
Paresthesia, Respiratory paralysis, Paralysis, Failure to thrive |
OMIM:612740 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Jerky head movements, Somatic sensory dy... |
ORPHA:240103 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Spastic tetraplegia, Clonus, Irritability, Chorea, Appendicular spasticity |
OMIM:613811 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Spasticity, Hyperkinetic movements, Chorea, Self-injurious behavior, Athetosis, Dysphagia, Involu... |
OMIM:617493 |
| Machado-Joseph Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Dystonia, Progressive cerebellar ataxia, Ataxia, Facial-li... |
OMIM:109150 |
| Hereditary Late-Onset Parkinson Disease |
|
Frequent falls, Parkinsonism, Dystonia, Apathy, Agitation, Akinesia, Parkinsonism with favorable ... |
ORPHA:411602 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Inability to walk, Cachexia, Upper limb spasticity, Dystonia, Ataxia, Head titubation, Amyotrophi... |
ORPHA:300605 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor |
OMIM:620158 |
| Atypical Rett Syndrome |
|
Spasticity, Impaired pain sensation, Hand apraxia, Limb myoclonus, Inability to walk, Gait distur... |
ORPHA:3095 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Spasticity, Gait disturbance, Ataxia, Blepharospasm, Clumsiness, Loss of ambulation, Optic disc p... |
OMIM:617282 |
| Foxg1 Syndrome |
|
Spasticity, Hyperkinetic movements, Impaired social interactions, Inability to walk, Difficulty w... |
ORPHA:561854 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Hyperkinetic movements, Small for gestational age, Gait disturbance, Anxiety, Truncal... |
OMIM:300957 |
| Developmental And Epileptic Encephalopathy 6B |
|
Hyperkinetic movements, Inability to walk, Ataxia, Chorea, Myoclonus, Abnormal repetitive manneri... |
OMIM:619317 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Parkinsonism, Cognitive impairment, Dementia, Memory impairment, Involuntary movements, Depressio... |
OMIM:616413 |
| Parkinson Disease 1, Autosomal Dominant |
|
Parkinsonism, Gait disturbance, Loss of ambulation, Dementia, Rigidity, Shuffling gait, Dysphagia... |
OMIM:168601 |
| Dystonia 12 |
|
Emotional lability, Parkinsonism, Torticollis, Unsteady gait, Anxiety, Tremor, Bradykinesia, Dysp... |
OMIM:128235 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Inability to walk, Cogwheel rigidity, Para... |
OMIM:607483 |
| Baker-Gordon Syndrome |
|
Athetoid cerebral palsy, Hyperkinetic movements, Inability to walk, Ataxia, Self-injurious behavi... |
OMIM:618218 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Myoclonus, Intractable, Neonatal |
|
Impaired oral bolus formation, Optic disc pallor, Athetosis, Dysphagia, Chorea, Myoclonus |
OMIM:617235 |
| Mepan Syndrome |
|
Spasticity, Limb dystonia, Gait disturbance, Ataxia, Axial dystonia, Chorea, Dysphagia, Failure t... |
ORPHA:508093 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Cognitive impairment, Motor deterioratio... |
ORPHA:79262 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Emotional lability, Spasticity, Gait disturbance, Unsteady gait, Memory impairment, Gliosis, Opti... |
OMIM:603896 |
| Hemimegalencephaly |
|
Hemiparesis, Abnormal neuron morphology, Gliosis, Myoclonus, Optic atrophy |
ORPHA:99802 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Hyperactivity, Anxiety, Failure to thrive, Gait ataxia, Abnormal repet... |
OMIM:609425 |
| Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Tetraplegia, Gliosis, Clonus |
OMIM:614959 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Athetosis, Involuntary movements, Choreoathetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
| Infantile Dystonia-Parkinsonism |
|
Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Oculogyric crisis, Irritability, Chorea, ... |
ORPHA:238455 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
| Dopa-Responsive Dystonia |
|
Inability to walk, Leg dystonia, Oculogyric crisis, Rigidity, Slurred speech, Dystonia, Emotional... |
ORPHA:255 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait, Obesity |
ORPHA:411515 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Dysdiadochokinesis, Diminished motivation, Dysmetria, Dystonia, Impaired social inte... |
OMIM:615157 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Huntington Disease-Like 3 |
|
Spasticity, Abnormal pyramidal sign, Broad-based gait, Cognitive impairment, Abnormal head moveme... |
ORPHA:157946 |
| Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Personality disorder, Torticollis, Dystonia, Anxiety, Writer's cramp, Panic attac... |
ORPHA:36899 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Irritability, Tremor, Dysphagia, Myoclonus, Hypertonia, Cho... |
OMIM:261630 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Neuroferritinopathy |
|
Emotional lability, Subcortical dementia, Parkinsonism, Leg dystonia, Difficulty walking, Blephar... |
ORPHA:157846 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Apathy, Falls, Parkinsonism with favorable response to dopaminergic medication, Anxiety, Rigidity... |
ORPHA:240085 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Autonomic erectile dysfunction, Ataxia, Pseudobulbar paralysis, Autonomic bladder dys... |
OMIM:169500 |
| Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:239500 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Impaired oropharyngeal swallow response, Limb dystonia, Torsion dystonia, Hand tr... |
ORPHA:53351 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Spasticity, Inability to walk, Hyperactivity, Bruxism, Paroxysmal bursts of laughter, Self-injuri... |
OMIM:618718 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Inability to walk, Spastic diplegia |
OMIM:617830 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Vocal cord paralysis, Decreased motor nerve conduction velocity |
ORPHA:640 |
| Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... |
ORPHA:99 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Distal sensory impairment, Gliosis, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
| Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Dystonia, Myoclonus, Chorea |
OMIM:616139 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Impaired vibratory sensation, Tremor |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 26 |
|
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Progressive gait ataxia,... |
ORPHA:101112 |
| Supranuclear Palsy, Progressive, 1 |
|
Parkinsonism, Limb dystonia, Apathy, Retrocollis, Astrocytosis, Axial dystonia, Falls, Rigidity, ... |
OMIM:601104 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Apathy, Ataxia, Abnormal head movements, Irritability |
ORPHA:71518 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Chorea, Dysphagia, Opisthotonus, Gliosis, Optic atrophy, Extrapyramidal dyskinesia,... |
OMIM:277470 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Cogwheel rigidity, ... |
OMIM:613135 |
| Hsd10 Disease |
|
Gait disturbance, Ataxia, Rigidity, Abnormal social behavior, Tremor, Dysphagia, Myoclonus, Optic... |
ORPHA:391417 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Somatic sensory dysfunction, Difficulty walking |
ORPHA:423296 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... |
OMIM:607317 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| 2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Long eyelashes, Hypocalcemia, Hypogonadism |
ORPHA:163693 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Emotional lability, Ataxia, Dementia, Abnormality of extrapyramidal motor function, Tremor, Gait ... |
OMIM:615362 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Impaired social interactions, Inability to walk |
OMIM:606053 |
| Cataract 11, Multiple Types |
|
Hypertonia, Chorea |
OMIM:610623 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Unsteady gait, Agitation, Ankle clonus, Bruxism, Tremor, Bra... |
OMIM:617435 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Distal sensory impairment, Limb ataxia, Oculomotor apraxia, Dystonia, Ataxia, Impaired distal vib... |
OMIM:208920 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Emotional lability, Spasticity, Apathy, Disinhibition, Frontotemporal dementia, Amyotrophic later... |
OMIM:612069 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Tremor, Waddling ... |
OMIM:616269 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Emotional lability, Parkinsonism, Torticollis, Limb dystonia, Anxiety, Dysphagia, Gait ataxia, Br... |
ORPHA:71517 |
| Choreoathetosis, Familial Inverted |
|
Abnormal pyramidal sign, Progressive choreoathetosis, Gait disturbance, Dementia, Rigidity |
OMIM:118750 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Oral-pharyngeal dysphagia, Paralysis |
OMIM:616286 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Spastic tetraplegia, Anxiety, Athetosis, Self-injurious behavior, Chorea, Dystonia |
OMIM:619922 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Early-Onset X-Linked Optic Atrophy |
|
Emotional lability, Optic disc pallor, Decreased nerve conduction velocity, Dysdiadochokinesis, G... |
ORPHA:98890 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Paralysis |
OMIM:605285 |
| Folinic Acid-Responsive Seizures |
|
Ataxia, Broad-based gait, Difficulty walking, Irritability, Chorea, Spastic tetraparesis, Optic a... |
ORPHA:79097 |
| Progressive Non-Fluent Aphasia |
|
Parkinsonism, Restlessness, Astrocytosis, Apraxia, Anxiety, Abnormal lower motor neuron morpholog... |
ORPHA:100070 |
| Pelizaeus-Merzbacher Disease |
|
Inability to walk, Reduction of oligodendroglia, Mental deterioration, Progressive spastic quadri... |
OMIM:312080 |
| 2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Self-injurious behavior, Abnorm... |
ORPHA:228402 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Gait disturbance, Falls, Progressive neurologic deterioration, Action myoclonus, Dem... |
OMIM:616230 |
| Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Inability to walk, Dystonia, Chorea |
OMIM:615473 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Inability to walk, Ataxia, Chorea, Gait ataxia, Dysmetria |
OMIM:618501 |
| Spinocerebellar Ataxia 1 |
|
Limb ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Fasciculations, Impaired distal t... |
OMIM:164400 |
| Leigh Syndrome |
|
Emotional lability, Spasticity, Ataxia, Failure to thrive, Gliosis, Optic atrophy, Dystonia |
OMIM:256000 |
| Gordon Holmes Syndrome |
|
Dementia, Ataxia, Chorea |
OMIM:212840 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Chorea, Myoclonu... |
OMIM:617600 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia, Parkinsonism, Apathy, Agitation, Disinhibition, Apraxia, Frontotemporal dementia, Pro... |
OMIM:607485 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Familial Dyskinesia And Facial Myokymia |
|
Difficulty walking, Limb hypertonia, Chorea, Resting tremor, Myoclonus, Dystonia |
ORPHA:324588 |
| Developmental And Epileptic Encephalopathy 56 |
|
Obsessive-compulsive trait, Poor coordination, Ataxia, Anxiety, Attention deficit hyperactivity d... |
OMIM:617665 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Spasticity, Inability to walk, Ataxia, Progressive neurologic deterioration, Generalized dystonia... |
ORPHA:70472 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Decreased body weight, Inability to walk, Ataxia, Bruxism, Anxiety, Rigid... |
OMIM:300260 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... |
ORPHA:397946 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Anxiety, Speech apraxia, Attention deficit hyperactivity disorder, Failure to thrive in infancy, ... |
OMIM:613670 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Difficulty walking, Progressive extrapyramidal movement disorder, Chorea, Resting tremor,... |
ORPHA:401768 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Spasticity, Limb ataxia, Inability to walk, Poor coordination, Ataxia, Difficulty walking, Attent... |
OMIM:617695 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Tremor, Mental deterior... |
OMIM:615924 |
| Tay-Sachs Disease |
|
Inability to walk, Gliosis, Laryngeal dystonia, Fasciculations, Poor fine motor coordination, Dys... |
ORPHA:845 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Hyperactivity, Ataxia, Tremor, Optic atrophy, Aggressive behavior |
OMIM:300983 |
| Spinocerebellar Ataxia Type 17 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Blephar... |
ORPHA:98759 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul... |
ORPHA:65684 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Postural tremo... |
ORPHA:314632 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Athetosis, Choreoathetosis, Failure to thrive, Chorea |
OMIM:309541 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
| Friedreich Ataxia |
|
Spasticity, Limb ataxia, Inability to walk, Falls, Impaired proprioception, Decreased motor nerve... |
ORPHA:95 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Emotional lability, Spasticity, Hyperactivity, Chorea, Dysdiadochokinesis, Bradykinesia, Intentio... |
OMIM:610217 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis |
OMIM:105500 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Froment sign, Hypoesthesia, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal co... |
OMIM:162500 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Frequent falls, Limb myoclonus, Eyelid myoclonus, Inability to walk, Difficulty walking, Clumsine... |
ORPHA:2590 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Ataxia, Chorea |
OMIM:618683 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Decreased sensory nerve conduction velocity, Distal sensory impairment, Steppage gait... |
OMIM:609260 |
| Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Hemiparesis, Limb hypertonia, Bruxism, Paroxysmal dystonia, Chorea, Self-injur... |
OMIM:618004 |
| Spinocerebellar Ataxia 40 |
|
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... |
OMIM:616053 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Abnormal pyramidal sign, Spastic tetraplegia, Parkinsonism, Distal sensory impairment, Ataxia, Fa... |
OMIM:617225 |
| Lethal Congenital Contracture Syndrome 8 |
|
Distal sensory impairment, Vocal cord paralysis, Oral-pharyngeal dysphagia, Facial diplegia |
OMIM:616287 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Distal sensory impairment, Inability to walk, Somatic s... |
ORPHA:90117 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal sensory impairment, Paralysis |
OMIM:613710 |
| Angelman Syndrome |
|
Polyphagia, Inability to walk, Hyperactivity, Ataxia, Obesity, Anxiety, Inappropriate laughter, O... |
ORPHA:72 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Cognitive impairm... |
ORPHA:98762 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Spasticity, Overweight, Difficulty walking, Shyness, Progressive spastic paraplegia, Spastic dysa... |
ORPHA:280763 |
| Metachromatic Leukodystrophy, Adult Form |
|
Emotional lability, Spasticity, Frequent falls, Difficulty walking, Clumsiness, Progressive gait ... |
ORPHA:309271 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Parkinsonism, Limb ataxia, Kinetic tremor, Limb dystonia, Cognitive impairment, Rigid... |
ORPHA:101109 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... |
OMIM:302500 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Gait disturbance, Substantia nigra gliosis, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Steppage gait, Distal sensory impairment, Decreased motor nerve conduction velocity, Fasciculations |
OMIM:606595 |
| Choreoacanthocytosis |
|
Bruxism, Loss of ambulation, Mental deterioration, Slurred speech, Laryngeal dystonia, Bradyphren... |
ORPHA:2388 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Gait disturbance, Rigidity, Tremor, Gait ataxia, Delayed social... |
OMIM:618090 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Parkinsonism, Gait disturbance, Babinski sign, Hemiplegia, Titubation, Chorea, Dysphagia, Bradyki... |
ORPHA:225147 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Difficulty walking, Dementia, Tremor, Dysphagia, Facial palsy, Myoclonus, Tongue ... |
OMIM:159950 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebral palsy, Spastic tetraplegia, Ataxia, Limb hypertonia, Optic disc pallor, Gliosis, Babinsk... |
OMIM:612936 |
| Salt And Pepper Developmental Regression Syndrome |
|
Irritability, Failure to thrive, Myoclonus, Optic atrophy, Choreoathetosis |
OMIM:609056 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Emotional lability, Spastic tetraplegia, Parkinsonism, Ataxia, Restlessness, Bruxism, Apraxia, Sh... |
OMIM:300055 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Myoclonic spasms, Limb hypertonia, Clonus, Abnormal autonomic nervous system physiology, Rigidity... |
OMIM:614498 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Cognitive impairment, Tremor, Babinski sign... |
OMIM:615768 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Decreased amplitude of ... |
OMIM:619279 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Mental deterioration, Myoclonus, Ataxia |
OMIM:616187 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Hyperactivity, Ataxia, Cachexia, Aganglionic megacolon, Athetosis, Chorea, Hyper... |
ORPHA:52503 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Small for gestational age, Ataxia, Limb hypertonia, Progressive neurologic deterior... |
OMIM:261640 |
| Spinocerebellar Ataxia 12 |
|
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Anxiety, Dysdiadochokinesis, Head tr... |
OMIM:604326 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Inability to walk, Anxiety, Failure to thrive, Dysphagia, Gait ataxia, Ab... |
DECIPHER:45 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Mental deterioration, Gliosis, Hemiparesis, Lethargy |
OMIM:613002 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Self-mutilation, Ataxia, Bruxism, Tremor, Dysphagia, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:619422 |
| Fragile X Tremor/Ataxia Syndrome |
|
Obsessive-compulsive trait, Parkinsonism, Impaired tandem gait, Disinhibition, Impaired distal vi... |
OMIM:300623 |
| Alternating Hemiplegia Of Childhood 2 |
|
Ataxia, Hemiplegia, Episodic quadriplegia, Mental deterioration, Tetraplegia, Choreoathetosis, Dy... |
OMIM:614820 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Apathy, Disinhibition, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dys... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Apathy, Disinhibition, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dys... |
OMIM:616437 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Somatic sensory dysfunction, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... |
ORPHA:363710 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
| Ataxia-Telangiectasia-Like Disorder |
|
Frequent falls, Oculomotor apraxia, Ataxia, Chorea, Dysdiadochokinesis, Gait ataxia, Intention tr... |
ORPHA:251347 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations |
OMIM:183050 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Frequent falls, Impaired pain sensation, Distal sensory impairment, Paresthesia, Somatic sensory ... |
ORPHA:99947 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment |
OMIM:619658 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Small for gestational age, Spastic tetraplegia, Limb dystonia, Clonus, Babinski sign,... |
OMIM:619847 |
| Combined Saposin Deficiency |
|
Hyperkinetic movements, Myoclonus, Fasciculations, Babinski sign, Optic atrophy |
OMIM:611721 |
| Obsolete: Early-Onset Schizophrenia |
|
Emotional lability, Polyphagia, Impairment in personality functioning, Suicidal ideation, Abnorma... |
ORPHA:96369 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Parkinsonism, Hyperactivity, Broad-based gait, Bipolar af... |
ORPHA:3077 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Difficulty walking, Irritability, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:617393 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Impaired social interactions, Self-injurious behavior, Stereotypical hand... |
ORPHA:397933 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Dysphagia, Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Corticobasal Syndrome |
|
Limb myoclonus, Parkinsonism, Limb dystonia, Gait disturbance, Oromotor apraxia, Somatic sensory ... |
ORPHA:454887 |
| Sneddon Syndrome |
|
Hemiparesis, Dementia, Memory impairment, Chorea, Tremor, Mental deterioration |
ORPHA:820 |
| Sandhoff Disease, Juvenile Form |
|
Abnormal pyramidal sign, Gait disturbance, Ataxia, Cognitive impairment, Abnormality of extrapyra... |
ORPHA:309162 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Loss of ambulation, Mental deterioration, Neuromuscular dysphagia, Slurred speech, Emotional labi... |
ORPHA:206443 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Dementia, Rigi... |
OMIM:616710 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Impaired vibration sensation at ankles, Unsteady gait, Ataxia, Cognitive... |
OMIM:616795 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Progressive neurologic deterioration, Rigidity, Irritabi... |
OMIM:233910 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Hyperkinetic movements, Inability to walk, Bruxism, Myoclonus, Stereotypical hand wringing, Chore... |
OMIM:618497 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Cln5 Disease |
|
Spasticity, Obsessive-compulsive trait, Inability to walk, Hyperactivity, Ataxia, Poor gross moto... |
ORPHA:228360 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment, Weight loss |
ORPHA:84142 |
| L-2-Hydroxyglutaric Aciduria |
|
Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Gliosis, Spastic t... |
OMIM:236792 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Impaired distal vibration sensation, Cogwheel rigidity, Parkinsonism wit... |
OMIM:128230 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Apathy, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor... |
ORPHA:306692 |
| Christianson Syndrome |
|
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Cachexia, Dysphagia, Gait atax... |
ORPHA:85278 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Difficulty walking, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... |
OMIM:619191 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Small for gestational age, Gait disturbance, Hyperactivity, Ataxia, Failure to thrive in infancy,... |
OMIM:614104 |
| Huntington Disease-Like 3 |
|
Spasticity, Abnormal pyramidal sign, Unsteady gait, Ataxia, Abnormality of extrapyramidal motor f... |
OMIM:604802 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Paroxysmal dyskinesia, Chorea |
ORPHA:79137 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Emotional lability, Myoclonic spasms, Parkinsonism, Clumsiness, Cognitive impairment, Anxiety, Lo... |
ORPHA:79264 |
| Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Ataxia, Optic disc pallor, Cachexia, Abnormal autonomic nervou... |
ORPHA:97229 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Gait disturbance, Retrocollis, Cognitive impairment, Tip-toe gait, Tremo... |
OMIM:617284 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Abnormal pyramidal sign, Distal sensory impairment, Ataxia, Impaired distal vibration sensation, ... |
OMIM:616688 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired pain sensation, Impaired distal vibration sensation, Decreased motor nerve conduction ve... |
OMIM:607706 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Spasticity, Spastic tetraplegia, Inability to walk, Irritability, Chorea, Optic nerve hypoplasia,... |
OMIM:617864 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cognitive impairment, Ri... |
ORPHA:98763 |
| Hereditary Geniospasm |
|
Intention tremor, Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
| Myopathy With Extrapyramidal Signs |
|
Frequent falls, Hyperactivity, Ataxia, Clonus, Clumsiness, Difficulty walking, Abnormality of ext... |
OMIM:615673 |
| Manganese Poisoning |
|
Emotional lability, Impairment in personality functioning, Dystonia, Gait disturbance, Cogwheel r... |
ORPHA:306682 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Tremor, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the ... |
OMIM:613608 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Inability to walk, Difficulty walking, Somatic sensory dysfunction, Decreased m... |
ORPHA:101077 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Frequent falls, Emotional lability, Upper limb hypertonia, Progressive cerebellar ataxia, Progres... |
ORPHA:254343 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Small for gestational age, Myoclonus, Spastic tetraparesis, Lethargy, Choreoathetosis |
OMIM:617065 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Spastic tetraplegia, Impaired social interactions, Unsteady gait, Ataxia... |
OMIM:256600 |
| Nasu-Hakola Disease |
|
Spasticity, Oculomotor apraxia, Disinhibition, Frontal lobe dementia, Irritability, Chorea, Memor... |
ORPHA:2770 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Ataxia, Loss of ambulation, Dysphagia, Positive Romberg sign, Babinski sign, Choreoat... |
OMIM:618088 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Ataxia, Difficulty walking, Dystonic gait, Titubation, Failure to thrive, Glio... |
ORPHA:280210 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Obsessive-compulsive trait, Impaired social interactions, Gait disturba... |
ORPHA:544254 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism |
OMIM:612526 |
| Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Limb ataxia, Gait ataxia, Intention tremor, Fasciculations, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:613728 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Alopecia |
ORPHA:100025 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Frequent falls, Dystonia, Oculomotor apraxia, Unsteady gait, Ataxia, Chorea, Dysdiadochokinesis, ... |
OMIM:604391 |
| Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Limb ataxia, Hand tremor, Ataxia, Dysphagia, Fasciculations, Tongue fasciculations, Basal ganglia... |
OMIM:607596 |
| Metachromatic Leukodystrophy |
|
Emotional lability, Spastic tetraplegia, Gait disturbance, Ataxia, Decreased nerve conduction vel... |
OMIM:250100 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
| Multiple System Atrophy, Cerebellar Type |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb ataxia, Autonomic erectile dysfunctio... |
ORPHA:227510 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal pyramidal sign, Abnormal fear/anxiety-related behavior, Anxiety,... |
ORPHA:309246 |
| Gerstmann-Straussler Disease |
|
Spasticity, Emotional lability, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesi... |
OMIM:137440 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Small for gestational age, Hypertonia, Gliosis |
OMIM:615095 |
| Rett Syndrome, Congenital Variant |
|
Spasticity, Impaired social interactions, Bruxism, Apraxia, Irritability, Chorea, Athetosis, Tong... |
OMIM:613454 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Abnormal pyramidal sign, Broad-based gait, Optic disc pallor, Shuffling gait, Failure to thrive, ... |
OMIM:617964 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Urocanase Deficiency |
|
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Aggressive behavior, Truncal ataxia, Dysmetria |
OMIM:276880 |
| Supranuclear Palsy, Progressive, 2 |
|
Parkinsonism, Apathy, Retrocollis, Axial dystonia, Falls, Postural tremor, Rigidity, Irritability... |
OMIM:609454 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Impaired tandem gait, Tremor, Impulsivity, Myoclonus, Lower limb spasticity, Dysmetria |
OMIM:619028 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Tetraparesis, Ankle clonus, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:613954 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Difficulty walking, Slender build, Astrocytosis |
OMIM:611087 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Abnormal nerve conduction velocity, Tremor |
ORPHA:101075 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Frequent falls, Unsteady gait, Ataxia, Dementia, Gait imbalance, Myoclonus, Choreoathetosis |
OMIM:301020 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis, Lower limb spasticity |
OMIM:615119 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
| Niemann-Pick Disease Type C |
|
Bipolar affective disorder, Progressive neurologic deterioration, Mental deterioration, Dystonia,... |
ORPHA:646 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:620152 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Hyperactivity, Ataxia, Tremor, Aggressive behavior, Choreoathetos... |
OMIM:612716 |
| Perry Syndrome |
|
Parkinsonism, Apathy, Abnormality of extrapyramidal motor function, Tremor, Depression, Weight loss |
ORPHA:178509 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Spastic tetraplegia, Hypertonia |
OMIM:615282 |
| Developmental And Epileptic Encephalopathy 78 |
|
Spasticity, Cerebral palsy, Inability to walk, Chorea |
OMIM:618557 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Ataxia, Loss of ambulation, Memory impairment, Tremor, Myoclonus |
OMIM:614018 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased sensory nerve conduction velocity, Gait disturbance, Somatic sensory dysfunction, Ataxi... |
OMIM:603472 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Parkinsonism, Apathy, Abnormal neuron morphology, Motor neuron atrophy, F... |
ORPHA:412066 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Gait disturbance, Distal sensory impairment, Ataxia, Parki... |
OMIM:606693 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Dystonia, Inability to walk, Ataxia, Gliosis, Basal ganglia gliosis, C... |
ORPHA:79243 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Lethargy, Choreoathetosis, Dystonia |
ORPHA:289916 |
| Choreoacanthocytosis |
|
Emotional lability, Progressive choreoathetosis, Parkinsonism, Tics, Disinhibition, Anxiety, Deme... |
OMIM:200150 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Difficulty walking, Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
| Amyotrophic Lateral Sclerosis |
|
Spasticity, Emotional lability, Motor neuron atrophy, Agitation, Anxiety, Amyotrophic lateral scl... |
ORPHA:803 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Pseudobulbar paralysis, Amyotrophic lateral sclerosis, Dysphagia, Fasciculations, Deg... |
OMIM:105400 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... |
OMIM:183090 |
| Perry Syndrome |
|
Inappropriate behavior, Parkinsonism, Suicidal ideation, Apathy, Disinhibition, Anxiety, Rigidity... |
OMIM:168605 |
| X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hemiparesis, Hyperactivity, Clumsiness, Paraparesis, Disinhibition, ... |
ORPHA:43 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
