| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Optic atrophy, Tremor, Spasticity, Limb dystonia, Emotional lability, Depression, Abnorma... |
ORPHA:216873 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Frontotemporal dementia, Myoclonus, Babinski sign, Rigidity, Inappropri... |
OMIM:600795 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Frontotemporal dementia, Abulia, Mental deterioration, Inappropriate be... |
ORPHA:275864 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Loss of ambulation, Failure to thrive, Myoclonus, Babinski sign, Basal gangli... |
ORPHA:225154 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Mem... |
ORPHA:401901 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Gliosis, Mental deterioration, Depression, Frequent falls, Gait ataxia, Spasticity, ... |
OMIM:618369 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Depres... |
OMIM:607136 |
| Huntington Disease |
|
Gait imbalance, Inability to walk, Mental deterioration, Babinski sign, Chorea, Difficulty walkin... |
ORPHA:399 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Optic atrophy, Involuntary mo... |
OMIM:617282 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Akine... |
ORPHA:282166 |
| Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Rigidity, Basal ganglia gliosis, Chorea, Aggressive behavior, Uns... |
OMIM:603218 |
| Huntington Disease-Like 2 |
|
Parkinsonism, Chorea, Memory impairment, Gait disturbance, Involuntary movements, Weight loss, Dy... |
ORPHA:98934 |
| Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Gliosis, Emotional blunting, Polyphagia, Disinhibition, Inappropriate l... |
OMIM:172700 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis, Bradykinesia, Mental deterioration, Depression, Rigidity, Parkinsonism, Memory impairmen... |
OMIM:221820 |
| Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Dystonia... |
OMIM:606438 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Mental deterioration, Cachexia, Depression, Babinski sign, Parkinsonism, Anxie... |
OMIM:618093 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance, Emotional lability, Dysphagia, Dementia |
OMIM:607674 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... |
OMIM:615483 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Cognitive impairment, Myoclonus, Babinski sign, Abnormal pyramidal sign, Akineti... |
ORPHA:204 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Aggressive behavior, Paroxysmal dyski... |
OMIM:619150 |
| Huntington Disease |
|
Gliosis, Bradykinesia, Depression, Rigidity, Chorea, Gait ataxia, Dementia |
OMIM:143100 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Torsion dystonia, Pa... |
ORPHA:98811 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia, Dementia |
OMIM:125370 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Frontotemporal dementia, Athetosis, Paralysis, Dysphagia,... |
OMIM:300857 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Cho... |
OMIM:618317 |
| Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Mental deterioration, Depression, Dysdiadochokinesis, Abnormal pyramidal sign, Park... |
OMIM:213600 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea, Dystonia |
OMIM:618760 |
| Huntington Disease-Like 1 |
|
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Cognitive impairment,... |
ORPHA:157941 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Optic atro... |
OMIM:164500 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... |
OMIM:213200 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Apathy, Gliosis, Progressive cerebellar ataxia, Frontotemporal dementia, Depression,... |
ORPHA:275872 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Depression, Myoclonus, Rig... |
ORPHA:248111 |
| Progressive Non-Fluent Aphasia |
|
Depression, Anxiety, Parkinsonism, Astrocytosis, Abnormal lower motor neuron morphology, Apraxia,... |
ORPHA:100070 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walkin... |
OMIM:500003 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasti... |
OMIM:617493 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... |
OMIM:614561 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Self-injurious behavior, Myoclonus, Oculogyric crisis, Hyperkinetic movements,... |
OMIM:614254 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... |
ORPHA:251282 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... |
OMIM:619738 |
| Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... |
ORPHA:98755 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Pica, Spastic diplegia, Choreoathetosis, Aggressive be... |
OMIM:617270 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea |
ORPHA:494541 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Cognitive impairment, Babinski sign, Chorea, Optic atrophy, Spasticity, Abnormality of ex... |
OMIM:258501 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Euphoria, Myoclonus, Babinski sign, Inappropriate behavior, Memory impairment, Gait dist... |
OMIM:221770 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Dysphagia |
OMIM:615945 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... |
ORPHA:79263 |
| Neurodegeneration With Brain Iron Accumulation |
|
Rigidity, Chorea, Optic atrophy, Spasticity, Dystonia, Abnormality of extrapyramidal motor function |
ORPHA:385 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Sydenham Chorea |
|
Inappropriate behavior, Chorea, Hemiballismus, Unsteady gait, Emotional lability, Irritability |
ORPHA:306731 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Depression, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tr... |
OMIM:619491 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait distur... |
OMIM:604484 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Decreased body weight, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Rigid... |
OMIM:617672 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Self-mutilation, Truncal ataxia, Unsteady gait |
OMIM:614063 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Developmental And Epileptic Encephalopathy 37 |
|
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... |
OMIM:616981 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... |
OMIM:130950 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Poor eye contact, Self-injurious behavior, Involuntary movem... |
OMIM:617820 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Mental deterioration, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, A... |
OMIM:615362 |
| Dystonia With Ringbinden |
|
Gait disturbance, Dystonia, Chorea |
OMIM:224550 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Apathy, Inappropriate sexual behavior, Parkinsonism, Frontal lobe ... |
OMIM:600274 |
| Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Chorea, Kinetic tremor, Gait ataxia,... |
ORPHA:98756 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Depression, Myoclonus, Oculogyric crisis, Rigidit... |
ORPHA:13 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Impaired social interactions, Inability to walk |
OMIM:606053 |
| Progressive Supranuclear Palsy |
|
Gliosis, Blepharospasm, Bradykinesia, Impulsivity, Cognitive impairment, Depression, Rigidity, Fa... |
ORPHA:683 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Chorea, Progressive extrapyramidal movement disorder, Athetosis,... |
ORPHA:382 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Cognitive impairment, Depression, Parkinsonism, Memory impairment, Involuntary movements, Choreoa... |
OMIM:616413 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Chorea,... |
ORPHA:66624 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Apathy, Gliosis, Extrapyramidal dyskinesia, Depressio... |
OMIM:105550 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia, Dementia |
OMIM:615889 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Impulsivity, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, Sp... |
ORPHA:500180 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Mental deterioration, Parkinsonism, Chorea |
OMIM:616922 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability |
OMIM:617393 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Gliosis, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait dis... |
ORPHA:457240 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... |
ORPHA:85292 |
| Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormal autonomic ner... |
OMIM:109150 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia |
ORPHA:98809 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Small for gestational age, Depression, Increased body mass index, Hyperkinetic movements... |
OMIM:300957 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... |
OMIM:606703 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
| Intellectual Disability-Epilepsy-Extrapyramidal Syndrome |
|
Gait imbalance, Broad-based gait, Clumsiness, Poor eye contact, Tip-toe gait, Involuntary movemen... |
ORPHA:468620 |
| Hereditary Late-Onset Parkinson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Gliosis, Bradykinesia, Akinesia,... |
ORPHA:411602 |
| Parkinson Disease 1, Autosomal Dominant |
|
Gliosis, Bradykinesia, Resting tremor, Mental deterioration, Depression, Myoclonus, Rigidity, Par... |
OMIM:168601 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Dementia, Degeneration of anterior horn cells, Myoclonus, Facial palsy, Tongue fasciculations, Fr... |
OMIM:159950 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... |
OMIM:607483 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... |
OMIM:619725 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Striatonigral Degeneration, Infantile |
|
Failure to thrive, Optic atrophy, Choreoathetosis, Spasticity, Dysphagia, Dystonia |
OMIM:271930 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Chorea, Difficulty walking, Lower limb ... |
ORPHA:300605 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis, Poor eye contact, Spasticity, Clonus, Tetraplegia |
OMIM:614959 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... |
OMIM:618917 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Dysphagia, ... |
OMIM:261630 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Gliosis, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Head titubation, Optic atr... |
OMIM:301790 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Gliosis, Myoclonus, Spasticity, Dysphagia |
OMIM:225753 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Irritability, Spastic tetraplegia, Chorea, Clonus |
OMIM:613811 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Chorea, Involuntary movements, Dystonia |
OMIM:617804 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Developmental And Epileptic Encephalopathy 27 |
|
Poor eye contact, Myoclonus, Chorea, Spasticity, Dystonia |
OMIM:616139 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Aggressive behavior |
OMIM:618221 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Progressive ... |
OMIM:261640 |
| Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Memory impairment, Gait disturbance, Optic atrophy, Spasticity, Unsteady gait, Emotional... |
OMIM:603896 |
| Neuroferritinopathy |
|
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Cognitive impairment, Emotional labili... |
ORPHA:157846 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations, Dysphagia |
ORPHA:85162 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Depression, Ataxia, Slowed slurred speech, Astrocytosis |
OMIM:172500 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medication, Apathy,... |
ORPHA:240085 |
| Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Poor eye contact, Decreased body weight, Cognitive impairmen... |
ORPHA:561854 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Hypertonia, Failure to thrive, Inability to walk, Optic nerve hypoplasia, Chorea, Spasticity, Spa... |
OMIM:617864 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Poor eye contact, Decreased body w... |
OMIM:617695 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Athetosis, Choreoathetosis, Involuntary movements, Paroxysmal dyskinesia, Dystonia |
ORPHA:31709 |
| Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Cognitive impairme... |
ORPHA:157946 |
| Myoclonus, Intractable, Neonatal |
|
Dysphagia, Myoclonus, Chorea, Athetosis |
OMIM:617235 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
| Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Poor eye contact, Inappropriate crying, Hand apraxia, Pill... |
ORPHA:3095 |
| Porphyria, Acute Hepatic |
|
Paresthesia, Failure to thrive, Paralysis, Respiratory paralysis |
OMIM:612740 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Dementia |
OMIM:118750 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk, Optic atrophy |
OMIM:617830 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Frontolimbic dementia, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Apathy, R... |
OMIM:601104 |
| Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Poor eye contact, Myoclonus, Anxiety, Tremor, Dystonia |
OMIM:619651 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Gliosis, Pseudobulbar paralysis, Autonomic erectile dysfunction, Orthostatic hypotension ... |
OMIM:169500 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... |
ORPHA:71517 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity, Polyphagia, Poor eye contact |
OMIM:613886 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... |
OMIM:618218 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Inco... |
OMIM:614947 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Self-injurious behavior, Anxiety, Chorea, Athetosis, Spastic tetraplegia, Dystonia |
OMIM:619922 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Truncal atax... |
OMIM:208920 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Impulsivity, Depression, Chorea, Spasticity, Dystonia |
ORPHA:88616 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
| Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... |
ORPHA:391417 |
| Creutzfeldt-Jakob Disease |
|
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... |
OMIM:123400 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... |
ORPHA:314632 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypertonia, Gliosis, Abnormal autonomic nervous system physiology, Babinski sign, Rigidity, Myocl... |
OMIM:614498 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Hypertonia, Ataxia, Chorea, Optic atrophy, Difficulty walking, Spastic tetrapar... |
ORPHA:79097 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, ... |
ORPHA:98759 |
| Infantile Dystonia-Parkinsonism |
|
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... |
ORPHA:238455 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Progressive neurologic deteriora... |
OMIM:616230 |
| Hemimegalencephaly |
|
Gliosis, Myoclonus, Hemiparesis, Optic atrophy, Abnormal neuron morphology |
ORPHA:99802 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Mental deterioration, Myoclonus, Limb myoclonus, Abnormal lower mo... |
ORPHA:2590 |
| Developmental And Epileptic Encephalopathy 17 |
|
Dystonia, Chorea, Athetosis |
OMIM:615473 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
| Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300425 |
| Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia |
OMIM:600116 |
| Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... |
OMIM:164400 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Inability to walk, Abnormal peripheral action potential... |
ORPHA:90117 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Depression, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Writ... |
ORPHA:36899 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Failure to thrive, Chorea, Athetosis |
OMIM:309541 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Memory impairment, Ab... |
ORPHA:412066 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, Polyphagia, Obesity, Inappropriate laughter |
ORPHA:411515 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Self-injurious behavior, Depression, Myoclonus, Anxiety, Chorea, A... |
ORPHA:485350 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Poor eye contact, Optic atrophy, Tremor, Spasticity, Aggressive behavior |
OMIM:300983 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Apathy, Babinski sign, Disinhibition, Spasticity... |
OMIM:612069 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... |
OMIM:615768 |
| Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... |
ORPHA:98890 |
| Pleoconial Myopathy With Salt Craving |
|
Salt craving, Paralysis |
OMIM:262900 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Ataxia, Inability to walk, Progressive neurologic deterioration, Chorea, Spast... |
ORPHA:70472 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus, Dementia |
ORPHA:308 |
| Leigh Syndrome |
|
Failure to thrive, Ataxia, Gliosis, Optic atrophy, Spasticity, Emotional lability, Dystonia |
OMIM:256000 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Mental deterioration, Abnorma... |
OMIM:617225 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Poor eye contact, Cerebral palsy, Chorea, Spasticity |
OMIM:618557 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Paralysis |
OMIM:608634 |
| Rabies |
|
Depression, Cerebral palsy, Anxiety, Vocal cord paresis, Paresthesia |
ORPHA:770 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Inability to walk, Mental deterioration, Optic atrophy, Tremor, Broad-based gait, Intenti... |
OMIM:312080 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Basal ganglia gliosis, Fas... |
OMIM:607596 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Gait ataxia, Aggressive ... |
OMIM:609425 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... |
ORPHA:98762 |
| Friedreich Ataxia |
|
Gait imbalance, Inability to walk, Poor fine motor coordination, Dysmetria, Limb ataxia, Intentio... |
ORPHA:95 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... |
OMIM:270500 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis |
OMIM:607641 |
| Developmental And Epileptic Encephalopathy 40 |
|
Poor eye contact, Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic tetr... |
OMIM:617065 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Decreased sensory nerve conduction velocity, Mental deterioration, Decreased motor ne... |
OMIM:609260 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... |
OMIM:604326 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Cognitive impairment, Depression, Babinski sign, Rigidity, Parkinsonism, Head tremor... |
ORPHA:101109 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Gliosis, Progressive language deterioration, Parkinsonism, Memory impairment, Polyphagia,... |
OMIM:607485 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Long eyelashes, Low-set, posteriorly rotated ears, Hypogonadism |
ORPHA:163693 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Gliosis, Abnormality of extrapyramidal motor function, Distal sensory impairment |
OMIM:604218 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... |
ORPHA:306692 |
| Cataract 11, Multiple Types |
|
Hypertonia, Chorea |
OMIM:610623 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... |
ORPHA:309271 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis |
OMIM:606183 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, So... |
ORPHA:98763 |
| Tay-Sachs Disease |
|
Gliosis, Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Exaggerated startle respon... |
ORPHA:845 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Distal sensory impairment, Paralysis, Lethargy |
OMIM:613710 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
| Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Abnormal social behavior, Tremor, Difficulty walking, Emotional l... |
ORPHA:255 |
| Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Ataxia, Episodic quadriplegia, Mental deterioration, Choreoathetosis, Dystonia, Tetra... |
OMIM:614820 |
| Myopathy, Spheroid Body |
|
Dysphagia, Tremor, Broad-based gait, Waddling gait |
OMIM:182920 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Optic atrophy |
OMIM:210000 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Mental deterioration, Gliosis, Hemiparesis, Lethargy |
OMIM:613002 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Apathy, Abnormal head movements, Irritability |
ORPHA:71518 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Inappropr... |
ORPHA:225147 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
| Sneddon Syndrome |
|
Mental deterioration, Hemiparesis, Chorea, Memory impairment, Tremor, Dementia |
ORPHA:820 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Chorea, Frequent falls, Gait ... |
ORPHA:251347 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... |
OMIM:607346 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Inability to walk, Poor eye contact, Decreased body weight, Pain insens... |
OMIM:300260 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations |
OMIM:613728 |
| Spinocerebellar Ataxia 42 |
|
Ataxia, Impaired vibration sensation at ankles, Cognitive impairment, Depression, Babinski sign, ... |
OMIM:616795 |
| Huntington Disease-Like 3 |
|
Ataxia, Mental deterioration, Abnormal pyramidal sign, Chorea, Spasticity, Unsteady gait, Dystoni... |
OMIM:604802 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Gliosis, Extrapyramidal dyskinesia, Opisthotonus, Chorea, Optic atrophy, Dysphagia, Dystonia |
OMIM:277470 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Impulsivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiad... |
OMIM:610217 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis, Oral-pharyngeal dysphagia |
OMIM:616286 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Progressive neurologic deterioration, Tremor, ... |
OMIM:233910 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Cognitive imp... |
OMIM:617284 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticit... |
OMIM:615924 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis |
OMIM:605285 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... |
OMIM:616688 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Aggressive behavior |
OMIM:239500 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Poor eye contact, Babinski sign, Chorea, Choreoathetosis, Spasticity, Dystonia |
OMIM:618451 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Mental deterioration, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetr... |
OMIM:104290 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Enhancement of the ... |
OMIM:613608 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Cerebral palsy, Babinski sign, Spastic paraplegia, Spastic tetraplegia |
OMIM:612936 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fasciculations, ... |
ORPHA:65684 |
| Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, D... |
ORPHA:210571 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Gait disturban... |
ORPHA:101077 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Ataxia, Gliosis, Failure to thrive, Myoclonus, Astrocytosis, Paralysis, Dementia |
OMIM:203700 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Mental deterioration, Babinski sign, Chorea, Gait di... |
OMIM:250100 |
| Salt And Pepper Developmental Regression Syndrome |
|
Failure to thrive, Myoclonus, Optic atrophy, Choreoathetosis, Irritability |
OMIM:609056 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Impaired v... |
ORPHA:99947 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
| Xq28 (MECP2) duplication |
|
Motor stereotypy, Failure to thrive, Inability to walk, Depression, Anxiety, Progressive spastici... |
DECIPHER:45 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Mental deterioration, Tremor, Difficulty walking, Emotional lability, Lower l... |
ORPHA:206443 |
| Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotensio... |
ORPHA:97355 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Self-mutilation |
DECIPHER:8 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Dysphagia, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:118800 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Memory impairment, Tremor, Difficulty walking |
OMIM:614018 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Ataxia, Gliosis, Inability to walk, Titubation, Difficulty walking, Lower limb... |
ORPHA:280210 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Fasciculations, Difficulty walking, Decreased motor nerve conduction velocity |
OMIM:615575 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Decreased motor nerve conduction velocity, Hand paresthesia, Froment sign, Vocal co... |
OMIM:162500 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Gliosis, Decreased nerve conduction velocity, Abnormal pyramidal sign, Optic atrophy, Spa... |
OMIM:256600 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Cognitive impairment, Decreased motor nerve ... |
OMIM:603472 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... |
ORPHA:397933 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Dystonia |
OMIM:618497 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Depression, Truncal ataxia, Memory impairment, Gait disturban... |
ORPHA:98764 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Impulsivity, Recurrent hand flapping, Poor coordination, Gait ataxia, Irritability |
OMIM:619717 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:101078 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Neuromuscular dysphagia, Apathy, Axial dystonia, Progressive cerebellar ataxia,... |
ORPHA:227510 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hypertonia, Gliosis, Opisthotonus, Small for gestational age, Cerebral palsy, Babinski sign, Myoc... |
OMIM:619847 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor |
OMIM:616710 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Hypertonia, Failure to thrive, Dysmetria, Intention tremor, Abnormal pyramidal ... |
OMIM:617964 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
| 2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter |
ORPHA:228402 |
| Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Frontolimbic dementia, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Apathy, R... |
OMIM:609454 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Apathy, Abnormal lower motor neuron morphology, Disinhibition, Dys... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Apathy, Abnormal lower motor neuron morphology, Disinhibition, Dys... |
OMIM:616437 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Abnor... |
ORPHA:309246 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... |
ORPHA:79264 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Abnormal ... |
ORPHA:3077 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hearing impairment, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Cdkl5-Deficiency Disorder |
|
Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Inappropriat... |
ORPHA:505652 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior, Obesity,... |
OMIM:613670 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Abnormal autonomic nervous system physiology, Cachexia, Myoclonus, Tremor, Optic disc pal... |
ORPHA:97229 |
| Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Recurrent hand flapping, Poor eye co... |
ORPHA:72 |
| Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia, Dystonia |
OMIM:618285 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Depression, Ankle clonus, Babinski sign, Tetraparesis, Abnormal lo... |
OMIM:613954 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Fasciculations, Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait |
OMIM:606595 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Difficulty walking, Truncal ataxia, Chorea |
ORPHA:369840 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity, Small for gestational age |
OMIM:278780 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Cognitive impairment, Depression, Dysdiadoc... |
OMIM:615157 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Rigidity, Parkin... |
OMIM:300894 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Tremor, Spasticity, Paroxysmal burs... |
OMIM:618718 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... |
OMIM:183090 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Lethargy |
ORPHA:289916 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability |
ORPHA:500545 |
| Nasu-Hakola Disease |
|
Chorea, Memory impairment, Frontal lobe dementia, Disinhibition, Spasticity, Oculomotor apraxia, ... |
ORPHA:2770 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Dystonia, Choreoathetosis, Spasticity, Irritability |
OMIM:614249 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... |
ORPHA:352641 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia |
OMIM:615282 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Ataxia, Gliosis, Failure to thrive |
OMIM:220111 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
| Christianson Syndrome |
|
Motor stereotypy, Conspicuously happy disposition, Cachexia, Truncal ataxia, Gait ataxia, Dysphag... |
ORPHA:85278 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
| Isaacs Syndrome |
|
Fasciculations, Weight loss, Distal sensory impairment |
ORPHA:84142 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Happy demeanor, Poor eye contact, Optic atrophy, Difficulty walking, Gait ataxi... |
OMIM:617807 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
| Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Abnormal autonomic nervous system physiology, Depression, Rigidity,... |
OMIM:168600 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Decreased motor nerve conduction velocity, Bab... |
OMIM:302800 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... |
OMIM:617145 |
| X-Linked Creatine Transporter Deficiency |
|
Hypertonia, Ataxia, Aganglionic megacolon, Self-mutilation, Cachexia, Chorea, Athetosis, Dystonia |
ORPHA:52503 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Facial diplegia, Failure to thrive, Inability to walk, Hyperkinetic movements, Athetosis, Spastic... |
OMIM:612073 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
|
