Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... |
OMIM:604484 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Dysphagia, Spasti... |
ORPHA:225154 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Dystonia, A... |
OMIM:607136 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Optic atrophy, Abnorma... |
OMIM:236792 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... |
OMIM:213200 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal degeneration, De... |
OMIM:302800 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... |
OMIM:600795 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... |
OMIM:618369 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Hypsarrhythmia, G... |
ORPHA:204 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Frontotempo... |
ORPHA:275864 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat... |
OMIM:614436 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Axonal loss, Gliosis, Dystonia |
OMIM:300857 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata... |
ORPHA:282166 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Dysphagia, Bradykin... |
OMIM:221820 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large p... |
OMIM:208920 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... |
ORPHA:157941 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, EEG abnormality, Axonal lo... |
OMIM:221770 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
Hemimegalencephaly |
|
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... |
ORPHA:99802 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Cer... |
OMIM:225753 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:98856 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Par... |
OMIM:109150 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:90103 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Gliosi... |
OMIM:604218 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... |
OMIM:614959 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... |
OMIM:169500 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia... |
OMIM:612936 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, Ba... |
OMIM:603218 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Hypoplasia of the pons, Chorea, Optic atrophy, Dysphagia, Opisthotonus, Gliosis, Ce... |
OMIM:277470 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus |
OMIM:616187 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Axonal... |
OMIM:604168 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... |
ORPHA:363710 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, EEG... |
OMIM:600143 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, EEG abnormality, Neurodegeneration |
OMIM:610951 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Gliosis, Inappropriate laughter, Disinhibition, Neuronal loss in ... |
OMIM:172700 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment |
OMIM:616155 |
Cln5 Disease |
|
Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal central motor function, Ataxia,... |
ORPHA:228360 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, M... |
OMIM:615924 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... |
OMIM:256731 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... |
ORPHA:88628 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Peripheral axonal neuropathy, Resting tremor, A... |
OMIM:617225 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Temporal cortical atrophy, As... |
ORPHA:100070 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Hyperactivity, Ataxia |
OMIM:613402 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Cerebellar gliosis, EEG with focal sharp waves, Cerebral atrophy, Hyps... |
ORPHA:79243 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... |
OMIM:618876 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi... |
OMIM:302500 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigid... |
OMIM:618090 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Dystonia, Ataxia, Increased neuronal autofluoresc... |
ORPHA:79263 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Head titubation, Tremor, Babinski sign, Cerebral... |
OMIM:611302 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axo... |
ORPHA:309169 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Gliosis, Spas... |
OMIM:615095 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A... |
ORPHA:909 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Ankle clo... |
OMIM:616657 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... |
ORPHA:280210 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... |
ORPHA:599373 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal py... |
ORPHA:216873 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, EEG with burst suppression, Gliosis, Cerebella... |
ORPHA:168486 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory impai... |
OMIM:618387 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Hypoplasia of the ventral pons, Degener... |
OMIM:607596 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Blepharospasm, Bradykinesia, Falls, Glio... |
ORPHA:683 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Lim... |
OMIM:615157 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait disturbance, Abnormal repeti... |
ORPHA:457240 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, EEG with burst suppression, Babinski sign, Optic atrophy, Hypertonia, Gliosis, ... |
OMIM:614498 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, EEG abnormality, Gliosis |
OMIM:613002 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Cerebellar atrophy, Decr... |
OMIM:607250 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Microcytic anemia, Axonal degeneration, Falls, Tongue fasciculations |
OMIM:618811 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dysphagia... |
OMIM:617916 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... |
OMIM:617810 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... |
ORPHA:206594 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Dysph... |
OMIM:210000 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... |
ORPHA:248111 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... |
ORPHA:98764 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spasticity, Cerebral cortical ... |
OMIM:300983 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Hyperkinetic movements, Gli... |
OMIM:300957 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration, Waddling gait |
OMIM:618138 |
Developmental And Epileptic Encephalopathy 71 |
|
EEG with burst suppression, Gliosis |
OMIM:618328 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Hep... |
ORPHA:845 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Cer... |
OMIM:618321 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... |
OMIM:616505 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Decreased nerve conduction velocity, Thrombocytopenia, ... |
OMIM:159550 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gait disturbance, Glio... |
OMIM:168601 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... |
ORPHA:500180 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Dysphagia, Abnormal sensory nerve... |
ORPHA:276435 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Cerebral atrophy, EEG abnormality... |
OMIM:614946 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... |
OMIM:614877 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Hyperactivity, Spastic tetrap... |
ORPHA:35069 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Reduction of oligodendroglia, Writer's cramp, Hea... |
OMIM:312080 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... |
ORPHA:137898 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Gliosis, Gait disturbance, Spasticity |
OMIM:603896 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykines... |
ORPHA:71517 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Gliosis, Dystonia, Spasticity |
OMIM:256000 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... |
OMIM:615889 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... |
OMIM:620011 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... |
OMIM:617145 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Compu... |
OMIM:619405 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hyperto... |
OMIM:619738 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Cer... |
OMIM:617435 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal sensory impairment, Gait ataxi... |
OMIM:616719 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Bradykinesia, Gliosis, ... |
ORPHA:411602 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Difficulty walking, Astrocytosis |
OMIM:611087 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Diaphra... |
OMIM:604320 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, O... |
OMIM:617193 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... |
OMIM:117360 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar v... |
ORPHA:98755 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phoni... |
OMIM:301107 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa... |
ORPHA:101077 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Self-injurious b... |
OMIM:271980 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, Gliosis, Neurodegeneration, Spasticity, Neuronal loss in centr... |
OMIM:616239 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Gliosis, Agitation, Disinhibition, ... |
OMIM:607485 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n... |
ORPHA:478029 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... |
OMIM:612126 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Dysph... |
OMIM:619847 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Splenomegaly, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdi... |
ORPHA:309854 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, EEG abnormality, Bradykinesia, Dystonia |
OMIM:617836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo... |
OMIM:278800 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... |
ORPHA:2585 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move... |
ORPHA:98759 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... |
OMIM:616811 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal ganglia gliosi... |
OMIM:604377 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... |
OMIM:203700 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Titubation, Gait ataxia, Bradykin... |
ORPHA:225147 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration |
OMIM:162100 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... |
OMIM:617665 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gai... |
ORPHA:216866 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... |
OMIM:607694 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Motor tics, Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneratio... |
OMIM:615643 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathetosis, Cerebellar ... |
OMIM:619422 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... |
OMIM:606159 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, Abnormal pyram... |
OMIM:248500 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebellar hypoplasia, Brain atr... |
OMIM:214150 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Dysmetria, Gait at... |
ORPHA:98771 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Frontotemporal cerebral atro... |
ORPHA:391417 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... |
ORPHA:329284 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Facial palsy, Optic atrophy, Cerebral atrophy, Distal sensory impairm... |
ORPHA:254886 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Cerebellar hy... |
ORPHA:529665 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... |
ORPHA:3095 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy, Dysphagia |
OMIM:618637 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysphagia, Dysdiadochokinesis, Prog... |
ORPHA:289494 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... |
ORPHA:330050 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Speech apraxia, Hyperactivity, EEG with frontal focal spikes, Impulsi... |
ORPHA:98818 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... |
ORPHA:139399 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Gliosis, Neutropenia, Ataxia, Hypsarrhythmia, Athetosis, Abnormal dentat... |
ORPHA:506 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Dyst... |
OMIM:606002 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance |
ORPHA:101078 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Dysphagia, Gra... |
OMIM:609454 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Hepatosplenomeg... |
ORPHA:2590 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Brain atrophy... |
OMIM:618718 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Dysmetria, ... |
OMIM:610217 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Abnormal neuron morphology, EEG wit... |
ORPHA:163681 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Dysphagia, Degeneration of anterior horn cells, Tongue fasciculations, Diff... |
OMIM:159950 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Hyperactivity, Ataxia, Poor motor coordination, Hypertriglyceridemia, Tremor, Ab... |
ORPHA:363400 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... |
ORPHA:382 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... |
ORPHA:168491 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... |
ORPHA:206443 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Ba... |
ORPHA:98761 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leukoc... |
OMIM:615673 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... |
OMIM:619470 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Aggressive behavior, Impulsi... |
OMIM:607454 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, EEG wit... |
OMIM:617302 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Spasticity, Dysphagia, Abnormal posturing |
OMIM:304700 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... |
ORPHA:98768 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... |
ORPHA:93952 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Severe temper tantrums, Aggressive behavior... |
OMIM:617710 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes |
OMIM:614018 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Postural tremor, Splenomegaly, Babinski sign, Lower limb hypertonia, ... |
OMIM:301072 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... |
ORPHA:276198 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... |
ORPHA:542310 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Progressive cer... |
ORPHA:485350 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,... |
OMIM:277460 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Axonal loss, Steppa... |
OMIM:118300 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Splenomegaly, Chorea, Inability to walk, Optic atrophy, Ce... |
ORPHA:404454 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:614381 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Clonus, Aggressive behavior, Unsteady gait, Babinski sign, Dysmetria, Hypsarrhythm... |
OMIM:617773 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Abnormal autonomic nervous ... |
ORPHA:97229 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Increased theta frequency ... |
ORPHA:1929 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Dysphagia, Progressive cer... |
OMIM:183086 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy, Ab... |
OMIM:619092 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:168600 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... |
ORPHA:280219 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Inability to walk, Astrocytosis, Pontocerebellar atrophy, Dysphagia |
ORPHA:258 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spasticity |
ORPHA:88619 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti... |
OMIM:619556 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, A... |
ORPHA:369939 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... |
OMIM:137440 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Splenomegaly, Unsteady gait, Astrocytosis, Brain... |
ORPHA:90324 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... |
ORPHA:64753 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis |
OMIM:300215 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidity, Cerebral atrophy, G... |
OMIM:618877 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism, Aggressive behavior |
OMIM:606688 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Myoc... |
ORPHA:2382 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus |
OMIM:616366 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysphagia, Choreoathetosis, Dystoni... |
OMIM:617664 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Cerebral cortical ... |
ORPHA:306669 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol... |
OMIM:618056 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Opis... |
OMIM:103050 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... |
OMIM:301008 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysme... |
OMIM:615273 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Hyper... |
OMIM:252160 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Focal EEG d... |
ORPHA:3077 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... |
OMIM:607483 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C... |
ORPHA:157846 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic para... |
OMIM:616586 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... |
ORPHA:309246 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hypertonia, Dys... |
OMIM:261640 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Decreased circulating... |
ORPHA:139396 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetit... |
OMIM:614104 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive trait, Gait dis... |
ORPHA:544254 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Gliosis, ... |
OMIM:252150 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr... |
ORPHA:1192 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, EEG... |
ORPHA:1942 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Tremor, Splenomegaly, Optic atrophy, EEG abnormality, Pontocerebellar atrophy |
OMIM:608799 |
Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Gliosis, Cerebellar hypoplasia |
ORPHA:261652 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Salt craving, Ataxia, Inability to walk, Hypera... |
ORPHA:199343 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hy... |
OMIM:612164 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof... |
OMIM:601162 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cerebral atrophy, Normochromic anemia, Neutropenia, Abnormal posturing, Thrombocytopenia |
OMIM:614857 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... |
ORPHA:466768 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Spastic tet... |
OMIM:619913 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... |
OMIM:620023 |
Cockayne Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Peripheral axonal neuropathy,... |
ORPHA:191 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Hypertonia, Tics,... |
OMIM:617865 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Tremor, Gait ataxia, Cerebellar vermis atrophy |
OMIM:300354 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Cerebral atrophy, Hypsarrhythmia, Dysphagia, Limb hypertonia |
OMIM:617162 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... |
ORPHA:98794 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, EEG abnormality, Gliosis, Spasticity |
OMIM:124000 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... |
ORPHA:2388 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Cerebellar v... |
OMIM:617988 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Rigidity, Tremor, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... |
OMIM:146500 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... |
OMIM:218000 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Restlessness, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atroph... |
OMIM:617186 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Aggressive be... |
ORPHA:572798 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Myoclonus, Dysphagia,... |
OMIM:607426 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... |
OMIM:601853 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Corpus callosum atrophy, Abnormal cerebellum morphology, Tremor, Babinski sign, Impaired vibratio... |
ORPHA:447753 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat... |
OMIM:619574 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le... |
OMIM:616271 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Limb tremor, Clumsiness, ... |
OMIM:105830 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Splenomegaly, Corpus callosum atrophy, G... |
OMIM:261515 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, ... |
ORPHA:48818 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... |
OMIM:105210 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gliosis, Dysphagia |
ORPHA:26791 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... |
ORPHA:43 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Decreased nerve condu... |
OMIM:214500 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Hyperactivi... |
ORPHA:760 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... |
ORPHA:79139 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Hypsarrhythmia, Abnormal pons morphology, Gliosis, Cerebellar hypoplasia, ... |
OMIM:300868 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Cerebral atrophy, Dysp... |
OMIM:222300 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Eosinophilia, Tremor, Atrophy of the spinal cord, Fasciculations |
ORPHA:99965 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Splenomegaly, Tremor, Slurred speech, EEG abnormalit... |
ORPHA:812 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... |
OMIM:300486 |
Papillorenal Syndrome |
|
Chiari type I malformation, Optic disc coloboma, Gliosis |
OMIM:120330 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutil... |
ORPHA:52503 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Dysmetria, Dysphagia, Gliosis, Truncal at... |
OMIM:220111 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... |
ORPHA:167 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compuls... |
ORPHA:646 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscul... |
ORPHA:240071 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anem... |
OMIM:254900 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Tremor, EEG with burst suppression, ... |
ORPHA:1934 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Neurodegeneration, Dysphagia |
OMIM:615919 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria |
OMIM:615578 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... |
ORPHA:502423 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... |
OMIM:617600 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Aggressive behavior, Hypertonia, Gliosis, Gait disturbance, Dysphagia, ... |
ORPHA:268261 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Brain atrophy, F... |
OMIM:620327 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spasti... |
OMIM:609727 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, EEG with focal spike waves, Ataxia, Tremor, Inability to walk, Multifocal ... |
OMIM:619229 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysph... |
ORPHA:25 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... |
ORPHA:99956 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... |
OMIM:168605 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetria, Dysdiadocho... |
OMIM:617675 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnor... |
ORPHA:2131 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar... |
OMIM:213300 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Hypera... |
OMIM:617281 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Tip-toe gait, Compulsive b... |
ORPHA:3008 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp... |
OMIM:615574 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... |
OMIM:212065 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Tremor, Abnormal cerebellum morphology, Inability to walk,... |
ORPHA:86309 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... |
ORPHA:297 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Oculomotor... |
ORPHA:220497 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Facial palsy, Tremor, R... |
ORPHA:254892 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abnormal eating behavior,... |
ORPHA:209905 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Dysphagia, Leukopenia, T lymphocytopenia, Neutropenia, Decreased pr... |
OMIM:242840 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Facial palsy, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Gliosis, Compuls... |
OMIM:615873 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Oculomotor... |
ORPHA:475 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Oral-pharyngeal dysphagia, Tremor, Gliosis, Attention deficit hyperactivity disord... |
ORPHA:506358 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Anemia |
ORPHA:71272 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Hyperlysinemia |
|
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... |
ORPHA:512 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, EEG abnormali... |
ORPHA:58 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Abnormal autonomic nervous... |
ORPHA:2828 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Splenomegaly, Oculomotor apraxia, Optic disc colobo... |
ORPHA:1454 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Enlarged cerebellum, Ataxia |
OMIM:620047 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... |
OMIM:613179 |
Diets-Jongmans Syndrome |
|
Gliosis, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618846 |
Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Progressive spastic quadriplegia, Spastic paraparesi... |
OMIM:207800 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, ... |
OMIM:615512 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Poor gross motor coo... |
OMIM:614756 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Dysphagia, Hypsarrhythmia, Hypertonia... |
ORPHA:447997 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Tremor, Dysphagia, Difficulty walking, Brain atrophy |
OMIM:164310 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis |
OMIM:617403 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... |
ORPHA:642 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |