| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... |
OMIM:160120 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... |
ORPHA:309169 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Mildly elevated creatine kinase, Tremor |
OMIM:614369 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... |
ORPHA:79299 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia |
OMIM:264070 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
| Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Fasciculations |
OMIM:615048 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... |
OMIM:615924 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Hyperm... |
ORPHA:521406 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Failure to thrive, Tremor |
OMIM:619651 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Abnorm... |
OMIM:213600 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Tremor, Hemiparesis |
OMIM:141500 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... |
ORPHA:99657 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... |
ORPHA:251282 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Limb fasciculations, Abnormal glucose homeostasis, Tremor, Elevated circulating creatine kinase c... |
ORPHA:90117 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... |
ORPHA:314632 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... |
OMIM:617284 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Ataxia, Dystonia |
OMIM:618093 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... |
ORPHA:240103 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati... |
OMIM:606159 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Increased body weight,... |
ORPHA:276608 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Elevated circulating creatine kinase concentration, Myoclonus, Tremor, Ataxia |
OMIM:614018 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ... |
OMIM:612736 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Saccharopinuria |
|
Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enzyme... |
ORPHA:3124 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis |
ORPHA:363710 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Elevated circulating creatine kinase concentration, Tremor, Fasciculations |
ORPHA:276435 |
| Parkinson Disease 17 |
|
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia |
OMIM:128235 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia |
OMIM:618387 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Small for gestational age, Tremor, Ataxia |
OMIM:278780 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, Ata... |
OMIM:261640 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... |
ORPHA:401768 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Tremor, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia, Increased serum py... |
OMIM:619405 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
| Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign |
OMIM:610245 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Hypomagnesemia, Abnormal... |
ORPHA:1578 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Elevated circulating phytanic acid concentration, Increased phytanic acid:pristanic a... |
OMIM:614307 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia |
OMIM:620158 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... |
ORPHA:397946 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Urocanic Aciduria |
|
Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentration, Truncal ataxia |
ORPHA:210128 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor |
ORPHA:79234 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Ataxia |
OMIM:617917 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... |
OMIM:600116 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... |
OMIM:617145 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia |
OMIM:618587 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... |
OMIM:612953 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Fre... |
OMIM:159950 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Fasciculations |
OMIM:313200 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... |
ORPHA:53351 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... |
OMIM:617013 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia |
OMIM:619738 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c... |
OMIM:208920 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma... |
ORPHA:70594 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Limb dys... |
ORPHA:363400 |
| Aceruloplasminemia |
|
Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Decreased circula... |
ORPHA:48818 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia |
OMIM:213200 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Increased total iron binding capacity, Tremor, Rigidity, Dystonia, Abnormali... |
OMIM:613280 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis |
OMIM:618049 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochokinesis, Progres... |
ORPHA:254881 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,... |
ORPHA:79263 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia |
OMIM:619028 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:615157 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
ORPHA:329284 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ... |
ORPHA:240085 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... |
ORPHA:96 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... |
OMIM:618877 |
| Cystathioninuria |
|
Cystathioninemia, Tremor |
ORPHA:212 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... |
ORPHA:99750 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... |
OMIM:619725 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... |
OMIM:606693 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Tremor, Decreased serum creatinine |
OMIM:617744 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Perry Syndrome |
|
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Obesity, Tremor, Dystonia, Babinski sign... |
OMIM:300055 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Chorea, Tremor, Abnormality of extrapyramidal motor function,... |
OMIM:615673 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Hyperphenylalaninemia, Dystonia, Chore... |
OMIM:233910 |
| Gerstmann-Straussler Disease |
|
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Weight loss, Apr... |
OMIM:137440 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatem... |
ORPHA:263455 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Failure to thrive, Hypoglycemia, Tremor, Babinski sign, Limb hypertonia, Dystonia |
ORPHA:35708 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... |
ORPHA:352649 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait |
OMIM:616795 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
| Insulinoma |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Tremor... |
ORPHA:97279 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Elevated circulating creatine kinase concentration, Tremor, Fasciculations |
ORPHA:209335 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level |
OMIM:218030 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... |
ORPHA:98773 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst... |
OMIM:128100 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Athetosis, Spasti... |
OMIM:617710 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Abnormal circulating crea... |
ORPHA:199351 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Failure to thrive, Generalized dystonia, Intention tremor, Tremor, Progressiv... |
OMIM:312080 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal cir... |
OMIM:612716 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss, Periodic paralysis, Tremor |
OMIM:613239 |
| Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia |
ORPHA:98764 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Spasticity, Cerebral palsy, Decreased circulating renin level, Hypokalemia, Athetosis, Spastic te... |
OMIM:615474 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Elevated ... |
OMIM:614298 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce... |
OMIM:606002 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:300894 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa... |
ORPHA:240071 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... |
OMIM:614381 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated circulating creatine kinase concentration, Type II diabetes mellitus, Tremor, Ataxia |
ORPHA:79095 |
| Perry Syndrome |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Dystonia |
OMIM:168605 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level |
OMIM:103900 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Fasting hypoglycemia, Ataxia, D... |
ORPHA:25 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:168600 |
| Ataxia-Telangiectasia |
|
Elevated circulating alpha-fetoprotein concentration, Dysdiadochokinesis, Failure to thrive, Gluc... |
OMIM:208900 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem... |
ORPHA:99027 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, O... |
ORPHA:79102 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Trem... |
ORPHA:3008 |
| Parkinson Disease 20, Early-Onset |
|
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia |
OMIM:615530 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Spasticity, Failure to thrive, Glycosuria, Glucose intolerance, Tremor, Babinski sign, Hypertonia... |
OMIM:616539 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:320 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyra... |
OMIM:234200 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:90793 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypoglycemia, Decreased circulating renin level, Hyponatremia, Hyperkalemia, Small for gestationa... |
OMIM:201750 |
