| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Oromandibular dystonia, Irritability, Abnormal pyramidal sign, Gait disturbance, Dysp... |
ORPHA:216873 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... |
ORPHA:275864 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Dysphagia, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Choreoathetosis, F... |
ORPHA:225154 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... |
ORPHA:401901 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Gait disturbance, Babinski sign, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... |
OMIM:600795 |
| Spinocerebellar Ataxia 17 |
|
Dystonia, Dysphagia, Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Glios... |
OMIM:607136 |
| Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Spastic hemiparesis, Apathy, Irritability, Abnormal pyramidal sign, Anxiety, Progress... |
ORPHA:282166 |
| Huntington Disease-Like 1 |
|
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Basal ganglia gliosis, Incoordination... |
OMIM:603218 |
| Huntington Disease |
|
Clumsiness, Gait imbalance, Decreased body mass index, Choking episodes, Apathy, Irritability, Or... |
ORPHA:399 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Dysphagia, Frequent falls, Torticollis, Gliosis, Spasticity, Mental deterioration, Gait ataxia, D... |
OMIM:618369 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dysphagia, Dystonia, Optic atrophy, Chorea, Myoclonus, A... |
OMIM:617282 |
| Pick Disease Of Brain |
|
Polyphagia, Gliosis, Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Irritability... |
OMIM:172700 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Gait disturbance, Dystonia, Dementia, Chorea, Weight loss, Parkinsonism, M... |
ORPHA:98934 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Dysphagia, Dystonia, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Me... |
OMIM:618093 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
| Striatonigral Degeneration, Infantile |
|
Dystonia, Dysphagia, Optic atrophy, Choreoathetosis, Failure to thrive, Spasticity |
OMIM:271930 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Gait disturbance, Dysphagia, Dementia, Chorea, Emotional lability |
OMIM:607674 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tre... |
OMIM:606438 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Dysphagia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Tremor, Hy... |
OMIM:261630 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Dementia, Akinetic mutism, Cognitive impairment, Myoclonus, Abnormality of extrapy... |
ORPHA:204 |
| Choreoathetosis, Familial Inverted |
|
Gait disturbance, Dementia, Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign |
OMIM:118750 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia, Pica |
OMIM:617270 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Dementia, Choreoathetosis, Cognitive impairment, Parkinsonism, Depression,... |
OMIM:616413 |
| Huntington Disease |
|
Dementia, Rigidity, Chorea, Gliosis, Bradykinesia, Gait ataxia, Depression |
OMIM:143100 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Agg... |
ORPHA:98811 |
| Chorea, Benign Hereditary |
|
Chorea, Anxiety, Gait disturbance |
OMIM:118700 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Dementia, Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign |
OMIM:125370 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Dysphagia, Weakness due to upper motor neuron dysfunction, Gliosis, Abnormality of... |
ORPHA:275872 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Small for gestational age, Progressive neurologic... |
OMIM:261640 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysphagia, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor f... |
OMIM:164500 |
| Juvenile Huntington Disease |
|
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive cerebella... |
ORPHA:248111 |
| Progressive Non-Fluent Aphasia |
|
Abnormality of extrapyramidal motor function, Astrocytosis, Abnormal lower motor neuron morpholog... |
ORPHA:100070 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... |
OMIM:619150 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dysphagia, Dystonia, Jerky head movements, Spastic gait, ... |
ORPHA:251282 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ... |
OMIM:213200 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... |
ORPHA:98810 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Mental det... |
OMIM:618317 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Gait disturbance, Dementia, Jerky head movements, Frequent fal... |
ORPHA:157941 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Rigidity, Gliosis, Shuffling gait, Bradykinesia, Frontal lobe dementia, Apraxia, Spasticity, Ment... |
OMIM:221820 |
| Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Dystonia, Choreoathetosis, Tetraplegia, Ataxia, Hemiplegia, Mental deterio... |
OMIM:614820 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Anxiety |
ORPHA:494541 |
| Spinocerebellar Ataxia Type 1 |
|
Impaired proprioception, Postural tremor, Dysphagia, Gait disturbance, Gait imbalance, Dystonia, ... |
ORPHA:98755 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Self-injurious behavior, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, ... |
OMIM:614254 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing |
OMIM:618760 |
| Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velo... |
ORPHA:98890 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Optic atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spasticity |
ORPHA:385 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Babinski sign, Optic atrophy, Chorea, Cognitive impairment, Abnormality of extrapyramidal motor f... |
OMIM:258501 |
| Hsd10 Disease |
|
Gait disturbance, Dysphagia, Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia,... |
ORPHA:391417 |
| Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... |
OMIM:618218 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Dysphagia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairm... |
ORPHA:79263 |
| Sydenham Chorea |
|
Inappropriate behavior, Chorea, Emotional lability, Irritability, Unsteady gait, Hemiballismus |
ORPHA:306731 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Dystonia, Chorea |
OMIM:611031 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Gait disturbance, Inappropriate behavior, Aggressive behavior, Myoclonus, Gliosis,... |
OMIM:221770 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Depression, Rigi... |
OMIM:619491 |
| Spinocerebellar Ataxia 37 |
|
Dysphagia, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Babinski sign, Dysphagia, Dystonia, Dementia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, ... |
OMIM:606159 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Dystonia, Choreoathetosis, Tetraplegia, Episodic hemiplegia, Mental deteri... |
OMIM:104290 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity |
OMIM:611105 |
| Pandas |
|
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... |
ORPHA:66624 |
| N-Acetylaspartate Deficiency |
|
Self-mutilation, Stereotypy, Truncal ataxia, Unsteady gait, Decreased body weight |
OMIM:614063 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal dystonia, Dysphagia, Paroxysmal choreoathetosis |
OMIM:118800 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Babinski sign, Paroxysmal choreoathetosis, Difficulty walking, Frequent falls |
OMIM:500003 |
| Frontotemporal Dementia |
|
Polyphagia, Amyotrophic lateral sclerosis, Apathy, Inappropriate laughter, Inappropriate sexual b... |
OMIM:600274 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... |
OMIM:606777 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Hand tremor, Gliosis, Fasciculations, Tetraplegia, Distal sensory impairment, D... |
OMIM:604484 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity |
OMIM:616981 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Dysphagia, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Abnormal pyr... |
OMIM:617672 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... |
ORPHA:71277 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Dysphagia, Fasciculations, Tremor, Inability to walk, Abnormal sensory nerve co... |
ORPHA:276435 |
| Foxg1 Syndrome |
|
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairm... |
ORPHA:561854 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... |
OMIM:615362 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Dysphagia, Optic atrophy, Head titubation, Choreoathetosis, Failure to thrive, Cognitiv... |
OMIM:312080 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Dementia, Kinetic tremor, Chorea, Fasciculations, Progressive cerebell... |
ORPHA:98756 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Dysphagia, Dystonia, Amyotrophic lateral sclerosis, Gliosis, Frontotemporal... |
OMIM:300857 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... |
OMIM:615483 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Impaired social interactions, Stereotypy |
OMIM:606053 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor |
OMIM:300660 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... |
ORPHA:13 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Apathy, Extrapyramidal dyskinesia, Gliosis, Paraparesis, Abnormal ... |
OMIM:105550 |
| Progressive Supranuclear Palsy |
|
Dystonia, Dysphagia, Dementia, Rigidity, Cognitive impairment, Gliosis, Falls, Bradykinesia, Trem... |
ORPHA:683 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements |
OMIM:618497 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability |
OMIM:612126 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Parkinsonism, Chorea, Mental deterioration |
OMIM:616922 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Jerky head movements, Torticollis, Focal dyston... |
ORPHA:98807 |
| Dystonia With Ringbinden |
|
Dystonia, Chorea, Gait disturbance |
OMIM:224550 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Shyness |
OMIM:618221 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Dysphagia, Limb hypertonia, Impaired pain sensation, Chorea, Aggressive behavior, Abnor... |
ORPHA:500180 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... |
ORPHA:79262 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity, Depression |
OMIM:615889 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Poor eye contact, Ataxia, Inability to walk, Gait ataxia |
OMIM:618501 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Stereotypy, Irritability, Spasticity, Difficulty walking |
OMIM:617393 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Dementia, Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations,... |
OMIM:159950 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Dysphagia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deteriora... |
OMIM:233910 |
| Mental Retardation, Autosomal Dominant 6, With Or Without Seizures |
|
Dystonia, Chorea, Spasticity |
OMIM:613970 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Self-mutilation, Gliosis, Stereotypy, Tremor, Hyperkinet... |
ORPHA:457240 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Dysphagia, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls,... |
ORPHA:240103 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... |
ORPHA:85292 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Choreoathetosis, Failure to thrive, Myoclonus, Irritability |
OMIM:609056 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broa... |
OMIM:619470 |
| Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dysphagia, Dementia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... |
ORPHA:411602 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Small for gestational age, Gliosis, Increased body mass index, Truncal obesity,... |
OMIM:300957 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Chorea, Optic nerve hypoplasia, Spastic tetraplegia, Hypertonia, Inability to ... |
OMIM:617864 |
| Parkinson Disease 1, Autosomal Dominant |
|
Gait disturbance, Dysphagia, Dystonia, Dementia, Rigidity, Myoclonus, Shuffling gait, Bradykinesi... |
OMIM:168601 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression |
OMIM:159900 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety |
OMIM:141500 |
| Machado-Joseph Disease |
|
Babinski sign, Dysphagia, Dystonia, Dementia, Rigidity, Gliosis, Abnormality of extrapyramidal mo... |
OMIM:109150 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
| Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Gliosis, Poor eye contact, Tetraplegia, Spasticity |
OMIM:614959 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression |
ORPHA:88616 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Clonus, Opisthotonus, Amyotrophic lateral sclerosis, Hypertonia, Dystonia... |
ORPHA:300605 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Developmental And Epileptic Encephalopathy 27 |
|
Dystonia, Chorea, Spasticity |
OMIM:616139 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... |
ORPHA:53351 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of somatosensory evoked ... |
ORPHA:206594 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Optic atrophy, Dysphagia, Optic disc pallor, Head titubation, Dementia, Dysmetria, Gliosis, Inten... |
OMIM:301790 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Babinski sign, Dysphagia, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titub... |
OMIM:607483 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Clonus, Irritability, Spastic tetraplegia |
OMIM:613811 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Dysphagia, Paresthesia, Fasciculations |
ORPHA:85162 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Depression, Slowed slurred speech, Astrocytosis |
OMIM:172500 |
| Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Inappropriate crying, Limb myoclonus, Panic at... |
ORPHA:3095 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... |
OMIM:612716 |
| Neuroferritinopathy |
|
Involuntary movements, Babinski sign, Dysphagia, Dystonia, Arm dystonia, Leg dystonia, Writer's c... |
ORPHA:157846 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Spasticity, Choreoathetosis |
OMIM:617065 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Apathy, Tremor, Parkinsonism with favorable response to ... |
ORPHA:240085 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Athetosis, Dysphagia, Dystonia, Self-injurious behavior, Chorea, Hyperkine... |
OMIM:617493 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Dysphagia, Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Inability to ... |
OMIM:617695 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Optic atrophy, Stereotypy |
OMIM:617830 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Dystonia, Optic atrophy, Progressive extrapyramidal movement disorder, Cho... |
ORPHA:401768 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Stereotypy |
DECIPHER:8 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Dysphagia, Optic atrophy, Choreoathetosis, Self-mutilation, Tremor, Ataxia |
OMIM:619422 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Leukoencephalopathy With Vanishing White Matter |
|
Gait disturbance, Optic atrophy, Gliosis, Emotional lability, Spasticity, Unsteady gait, Memory i... |
OMIM:603896 |
| Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Impaired vibration sensation at ankles, Rigidity, Spastic gait, Memory impairment |
ORPHA:401849 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Involuntary movements, Dystonia, Chorea, Ataxia, Inability to walk |
OMIM:617804 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Babinski sign, Dystonia, Decreased motor nerve conduction velocity, Head ... |
OMIM:608804 |
| Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... |
OMIM:618917 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity, Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abno... |
OMIM:614947 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... |
OMIM:609425 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Polyphagia, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Poor eye contact, Polyphagia, Stereotypy |
OMIM:613886 |
| Huntington Disease-Like 3 |
|
Dystonia, Chorea, Abnormal head movements, Cognitive impairment, Abnormality of extrapyramidal mo... |
ORPHA:157946 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Babinski sign, Orthostatic hypotension due to autonomic dysfunction, Pseudobulbar paralysis, Glio... |
OMIM:169500 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, ... |
ORPHA:71517 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Aggressive behavior, Poor eye contact, Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Dysphagia, Choreoathetosis, Spastic tetraparesis, Hypertonia, Abnormal pyramidal sign, ... |
OMIM:308350 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety |
OMIM:602066 |
| Creutzfeldt-Jakob Disease |
|
Dementia, Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety... |
OMIM:123400 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety |
OMIM:606703 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Dystonia, Choreoathetosis, Failure to thrive, Tetraplegia, Spasticity |
OMIM:616034 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Mental deterioration |
OMIM:616187 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Babinski sign, Clonus, Optic atrophy, Myoclonic spasms, Rigidity, Gliosis, Hypertonia, Abnormal a... |
OMIM:614498 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Optic atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Dysphagia, Amyotrophic lateral sclerosis, Apathy, Stereotypy, Emotional lability, ... |
OMIM:612069 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608631 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Myoclonus, Gliosis, Spasticity |
OMIM:225753 |
| Infantile Dystonia-Parkinsonism |
|
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Irrita... |
ORPHA:238455 |
| Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300425 |
| Autism |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:607373 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608636 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... |
ORPHA:314632 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dysphagia, Limb fasciculations, Distal sensory impairment, Tremor, Inability to walk, Abnormal pe... |
ORPHA:90117 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Hemiparesis |
OMIM:607341 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Spinocerebellar Ataxia 1 |
|
Impaired proprioception, Decreased motor nerve conduction velocity, Paresthesia, Fasciculations, ... |
OMIM:164400 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618709 |
| Hemimegalencephaly |
|
Optic atrophy, Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis |
ORPHA:99802 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism |
OMIM:600116 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking |
ORPHA:324588 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... |
ORPHA:485350 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... |
OMIM:615768 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Falls, Shuffli... |
ORPHA:412066 |
| Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Involuntary movements, Optic neuropathy, Dementia, Dyssynergia, Choreoat... |
ORPHA:101 |
| Rabies |
|
Paresthesia, Cerebral palsy, Vocal cord paresis, Anxiety, Attention deficit hyperactivity disorde... |
ORPHA:770 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Babinski sign, Small for gestational age, Frequent falls, Torticollis, Choreoathetosis, Ataxia, L... |
OMIM:619054 |
| Spinocerebellar Ataxia Type 28 |
|
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... |
ORPHA:101109 |
| Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Writer's cramp, Tortic... |
ORPHA:98759 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Stereotypy |
OMIM:239500 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Dysphagia, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inabi... |
ORPHA:2590 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Depression, Spasticity |
OMIM:614307 |
| Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... |
OMIM:619317 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis, Salt craving |
OMIM:262900 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis, Difficulty walking |
OMIM:608634 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... |
OMIM:615924 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... |
ORPHA:382 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Self-injurious behavior, Obesity, Aggressive behavior, Speech aprax... |
OMIM:613670 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, F... |
OMIM:612953 |
| Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
| Folinic Acid-Responsive Seizures |
|
Dystonia, Optic atrophy, Chorea, Spastic tetraparesis, Ataxia, Hypertonia, Irritability, Broad-ba... |
ORPHA:79097 |
| Friedreich Ataxia |
|
Impaired proprioception, Babinski sign, Dysphagia, Dystonia, Impaired visually enhanced vestibulo... |
ORPHA:95 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... |
OMIM:615528 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Steppage gait, Decreased... |
OMIM:609260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Babinski sign, Dystonia, Choreoathetosis, Obesity, Spastic gait, Shuffling gait, Bradykinesia, Sp... |
OMIM:300055 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Dysphagia, Choreoathetosis, Dysmetria, Ataxia, Spasticity |
OMIM:618088 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... |
ORPHA:53583 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... |
OMIM:617225 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Dementia, Tremor by anatomical site, Cognitive i... |
ORPHA:98762 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Dementia, Li... |
ORPHA:454887 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Failure to thrive, Chorea, Progressive neurologic deterioration, Ataxia, Inability to ... |
ORPHA:70472 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Babinski sign, Dysphagia, Dystonia, Optic atrophy, Dysmetria, Chorea, Bradykinesia, Intention tre... |
OMIM:610217 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Chorea, Poor eye contact, Inability to walk, Spasticity |
OMIM:618557 |
| Myopathy, Spheroid Body |
|
Tremor, Dysphagia, Waddling gait, Broad-based gait |
OMIM:182920 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Cognitive impai... |
ORPHA:309246 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, R... |
OMIM:309548 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Long eyelashes, Low-set, posteriorly rotated ears, Hypocalcemia |
ORPHA:163693 |
| Leigh Syndrome |
|
Dystonia, Optic atrophy, Failure to thrive, Gliosis, Ataxia, Emotional lability, Spasticity |
OMIM:256000 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Distal sensory impairment, Myoclonus, Abnormality of extrapyramidal motor function, Gliosis |
OMIM:604218 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Dystonia, Optic atrophy, Choreoathetosis, Failure to thrive, Spastic tetraplegia, Spasticity |
OMIM:618238 |
| Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Babinski sign, Dystonia, Optic atrophy, Orthostatic hypotension due to autonomic dysf... |
ORPHA:309271 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Shuffling gait, Bradykinesia, Falls, Apathy, Resting tremor, Short stepped shuffling ga... |
ORPHA:306692 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Abnormality of extrapyramidal motor function, Choreoathetosis |
OMIM:301020 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Depression |
OMIM:162350 |
| Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Anxiety, Oculogyric crisis, Abnormal social behavior, Lethargy, Gait ... |
ORPHA:255 |
| Jaberi-Elahi Syndrome |
|
Dystonia, Optic atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to walk... |
OMIM:617988 |
| Tay-Sachs Disease |
|
Clumsiness, Fasciculations, Incoordination, Anxiety, Gait disturbance, Dysmetria, Decerebrate rig... |
ORPHA:845 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Optic atrophy, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... |
ORPHA:98763 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Mental deterioration, Gliosis, Hemiparesis |
OMIM:613002 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Distal sensory impairment, Tremor, Ocu... |
OMIM:208920 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Frequent falls, Dysmetria, Chorea, Myoclonus, Intention tremor, Oculomotor apraxia, Ata... |
ORPHA:251347 |
| Sneddon Syndrome |
|
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment |
ORPHA:820 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Dysphagia, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cereb... |
OMIM:607346 |
| Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... |
ORPHA:36899 |
| Fraxe Intellectual Disability |
|
Clumsiness, Aggressive behavior, Stereotypical body rocking, Hyperactivity, Impulsivity, Recurren... |
ORPHA:100973 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gait ataxia |
OMIM:606183 |
| Choreoacanthocytosis |
|
Dystonia, Dysphagia, Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips du... |
OMIM:200150 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Depression |
OMIM:204300 |
| Spinocerebellar Ataxia 42 |
|
Babinski sign, Dysphagia, Impaired vibration sensation at ankles, Spastic gait, Cognitive impairm... |
OMIM:616795 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
| Lethal Congenital Contracture Syndrome 7 |
|
Oral-pharyngeal dysphagia, Paralysis, Facial diplegia |
OMIM:616286 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia, Gliosis, Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibiti... |
OMIM:607485 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Basal ganglia gliosis, Fasciculations, Degeneration of anterior horn cells |
OMIM:607596 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Fasciculations, Degeneration of anterior horn... |
ORPHA:65684 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Irritability, Prolonged brainstem auditory evoked potentials, Hemiplegia, Acroparesth... |
ORPHA:206443 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Dysphagia, Gait disturbance, Dystonia, Inappropriate crying, Chorea, Bradykinesia,... |
ORPHA:225147 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Abnormal head movements, Apathy, Ataxia, Irritability |
ORPHA:71518 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Decreased motor nerve conduction velocity |
OMIM:605285 |
| Horner Syndrome, Congenital |
|
Paralysis, Congenital Horner syndrome |
OMIM:143000 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Obesity, Aggressive behavior, Shuffling gait, Lower limb ... |
ORPHA:3077 |
| Huntington Disease-Like 3 |
|
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity, Unsteady gait... |
OMIM:604802 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Progressive spasticity, Babinski sign, Choreoathetosis |
OMIM:612233 |
| Pettigrew Syndrome |
|
Self-injurious behavior, Gait ataxia, Spasticity, Choreoathetosis |
OMIM:304340 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... |
OMIM:300894 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Gait disturbance, Tremor, Inability to walk, Difficult... |
ORPHA:101077 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Dystonia, Babinski sign, Choreoathetosis, Chorea, Poor eye contact, Spasticity |
OMIM:618451 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Dysphagia, Absent brainstem auditory responses, Choreoathetosis |
OMIM:617519 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Steppage gait, Impaired temperature sensation, Impaired pain sensation, Limb fasciculations |
ORPHA:99940 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Albinism, Hearing impairment |
OMIM:600501 |
| Dystonia 9 |
|
Dystonia, Paresthesia, Choreoathetosis, Cognitive impairment, Episodic ataxia, Spastic paraplegia... |
OMIM:601042 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Dystonia 16 |
|
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... |
ORPHA:210571 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Dysphagia, Failure to thrive, Stereotypy, Inability to walk, Anxiety, Gai... |
DECIPHER:45 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Dysphagia, Rigidity, Chorea, Lower limb spasticity, Poor eye contact, Ste... |
OMIM:300260 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Small for gestational age, Choreoathetosis, Episodic ataxia, Lethargy |
OMIM:312170 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Difficulty walking, Fasciculations |
OMIM:615575 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... |
ORPHA:397933 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression |
OMIM:605909 |
| Schimke X-Linked Mental Retardation Syndrome |
|
Spasticity, Choreoathetosis |
OMIM:312840 |
| Caribbean Parkinsonism |
|
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypoten... |
ORPHA:97355 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Babinski sign, Cerebral palsy, Gliosis, Spastic tetraplegia, Spastic paraplegia |
OMIM:612936 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... |
ORPHA:98764 |
| Xylosidase Deficiency |
|
Choreoathetosis |
OMIM:278900 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Polyphagia, Self-injurious behavior, Stereotypy, Hyperactivity, At... |
ORPHA:228402 |
| Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... |
ORPHA:726 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus, Irritability |
OMIM:263550 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Paralysis, Dementia, Failure to thrive, Myoclonus, Gliosis, Astrocytosis, Ataxia, Hypertonia |
OMIM:203700 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Optic atrophy, Impaired temperature sensation, Paresthesia, Frequ... |
ORPHA:99947 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... |
OMIM:618718 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex, Tremor, Difficulty... |
OMIM:613608 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oral-pharyng... |
ORPHA:178469 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Gait disturbance, Dementia, Rigidity, Decreased sensor... |
OMIM:603472 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Dysphagia, Amyotrophic lateral sclerosis, Apathy, Fasciculations, Abnormal lower motor neuron mor... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Dysphagia, Amyotrophic lateral sclerosis, Apathy, Fasciculations, Abnormal lower motor neuron mor... |
OMIM:616437 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity diso... |
OMIM:619191 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea |
ORPHA:98809 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal sensory impairment, Steppage gait, Decreased motor nerve conduction velocity, Fasciculations |
OMIM:606595 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Ataxia |
OMIM:618876 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ataxia |
ORPHA:101078 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dysphagia, Optic disc pallor, Myoclonic spasms, Dementia, Poor motor coordination, Mo... |
ORPHA:79264 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
| Metachromatic Leukodystrophy |
|
Babinski sign, Gait disturbance, Dystonia, Optic atrophy, Chorea, Decreased nerve conduction velo... |
OMIM:250100 |
| Supranuclear Palsy, Progressive, 1 |
|
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia, Glios... |
OMIM:601104 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Dystonia, Shyness, Spastic dysarthria, Stereotypy, Waddling gait, Difficulty walki... |
ORPHA:280763 |
| Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Dementia, Chorea, Apathy, Exaggerated startle response, Spastic tetraparesis... |
OMIM:272750 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Dystonic gait, Failure to thrive, Gliosis, Lower limb spasticity, Ataxia, Inability to walk, Titu... |
ORPHA:280210 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia, Impulsivity |
OMIM:619028 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Babinski sign, Dysphagia, Amyotrophic lateral sclerosis, Lower limb spasticity, Fasciculations, A... |
OMIM:613954 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis, Impaired distal tactile sensation, Paresthesia |
ORPHA:90064 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials |
OMIM:608105 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Optic atrophy, Dementia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinson... |
ORPHA:329284 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... |
ORPHA:227510 |
| Riboflavin Transporter Deficiency |
|
Dysphagia, Optic disc pallor, Abnormal cranial nerve morphology, Cachexia, Aggressive behavior, M... |
ORPHA:97229 |
| Angelman Syndrome |
|
Optic atrophy, Dysphagia, Optic disc pallor, Happy demeanor, Polyphagia, Self-injurious behavior,... |
ORPHA:72 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Decreased nerve conduction velocity, Ataxia, Spasticity |
OMIM:183050 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Kufor-Rakeb Syndrome |
|
Babinski sign, Dysphagia, Gait disturbance, Dystonia, Dementia, Rigidity, Torticollis, Aggressive... |
OMIM:606693 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... |
OMIM:618877 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Dystonia, Opisthotonus, Choreoathetosis, Spastic tetraparesis, Inability to walk, Generalized dys... |
OMIM:619653 |
| Insulinoma |
|
Paresthesia, Polyphagia, Abnormality of pain sensation, Tremor, Transient global amnesia, Anxiety... |
ORPHA:97279 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Waddling gait, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Choreoathetosis, Aggressive behavior, Progressive neurologic deterioration, Spasti... |
OMIM:300438 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... |
OMIM:619580 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment |
OMIM:619658 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Dystonia, Decreased nerve conduction velocity, Choreoathetosis |
OMIM:614932 |
