| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:187950 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... |
OMIM:614201 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... |
OMIM:187800 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:155100 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Episodic Ataxia, Type 8 |
|
Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
OMIM:616055 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... |
OMIM:601399 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor |
ORPHA:85292 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... |
OMIM:139090 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
| Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia |
OMIM:614860 |
| Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... |
OMIM:231200 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... |
ORPHA:420485 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia |
ORPHA:210571 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
| Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... |
OMIM:619374 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Prolonged bleeding time... |
OMIM:187900 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
| Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired ADP-induced platelet agg... |
OMIM:153670 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Hand tremor, Lower limb spasticity |
ORPHA:401835 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation |
OMIM:300835 |
| Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... |
ORPHA:454887 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:615768 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... |
OMIM:614074 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia |
OMIM:605909 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... |
OMIM:604326 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Tremor, Hemiplegia |
OMIM:141500 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia |
OMIM:615924 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... |
ORPHA:521406 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... |
ORPHA:216873 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... |
OMIM:617284 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
| Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:276880 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... |
OMIM:213600 |
| Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia |
OMIM:128235 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
| Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dystonia |
ORPHA:324588 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... |
ORPHA:240103 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... |
ORPHA:251282 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor |
OMIM:620158 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Dystonia |
OMIM:619651 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Limb hypertonia, Parkinsonism, Rigidity, Dystonia, Bradykine... |
OMIM:615528 |
| Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
| Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor |
OMIM:613608 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:618093 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dystonia, Bra... |
ORPHA:71517 |
| Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor |
OMIM:615362 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... |
ORPHA:53351 |
| Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Laryngeal dys... |
OMIM:612067 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... |
OMIM:617145 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
| Urocanic Aciduria |
|
Gait ataxia, Action tremor, Truncal ataxia, Ataxia |
ORPHA:210128 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:306669 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia |
OMIM:618049 |
| Sitosterolemia 1 |
|
Thrombocytopenia, Impaired platelet aggregation, Giant platelets |
OMIM:210250 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia |
OMIM:619738 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor |
OMIM:213200 |
| Dystonia 34, Myoclonic |
|
Writer's cramp, Torticollis, Myoclonus, Hand tremor, Head tremor, Dystonia |
OMIM:619724 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:329284 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Tremor, Lower limb spasticity, Dystonia |
OMIM:617916 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... |
OMIM:618877 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Resting tremor, Rigidity, Myoclonus, Dystonia, Involuntary ... |
ORPHA:391411 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... |
ORPHA:98773 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Choreoathetosis, Dystonia, Ataxia |
OMIM:612126 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad... |
ORPHA:240085 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Dystonia, Bradykinesia |
OMIM:619911 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... |
OMIM:261640 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Tremor, Ataxia |
OMIM:614018 |
| Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Reduced natural killer cell activity, Impaired ADP-induced plat... |
OMIM:608233 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Dysmetria, Tremor, Ataxia |
OMIM:618387 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia |
OMIM:233910 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Tremor, Hypertonia |
OMIM:176500 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... |
OMIM:606693 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Dysmetria, Tremor, Ataxia |
OMIM:619405 |
| Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... |
ORPHA:99750 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia |
ORPHA:70594 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial... |
ORPHA:420492 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Dystonia, Intention t... |
OMIM:619725 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor |
OMIM:614307 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls |
OMIM:616719 |
| Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor |
OMIM:616795 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia |
ORPHA:101078 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia |
OMIM:617106 |
| Mgat2-Cdg |
|
Decreased circulating antibody level, Impaired platelet aggregation, Decreased circulating IgG level |
ORPHA:79329 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Dystonia, Bradykinesia |
OMIM:617435 |
| Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... |
OMIM:128100 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor |
ORPHA:1170 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor |
OMIM:614831 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... |
ORPHA:352649 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism |
ORPHA:178509 |
| Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
OMIM:613280 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... |
ORPHA:96 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Babinski sign, Scissor gait, T... |
OMIM:617013 |
| Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor |
ORPHA:98764 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:311510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetosis, Ataxia... |
OMIM:300055 |
| Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls |
OMIM:210000 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Blepharospasm, Ataxia, Tremor |
OMIM:607876 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:607694 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Tremor, Dystonia |
OMIM:208920 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Tremor, Dystonia |
ORPHA:542310 |
| Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocytopenia |
ORPHA:324636 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, Limb dystonia |
OMIM:616840 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with favorable response to dop... |
ORPHA:240071 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor |
OMIM:618060 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Writer's cramp, Choreoathetosis, Ataxia, Progressive spastic quadriplegi... |
OMIM:312080 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:168600 |
| Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Abnormal pyramidal sign, Apraxia, Babinski sign, Focal dystonia, Tremor, Oromandibu... |
ORPHA:52368 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... |
OMIM:614381 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
OMIM:300894 |
| Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
| Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response to dopamin... |
ORPHA:199351 |
| Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dystonia, Bradykinesia |
OMIM:615530 |
| Chédiak-Higashi Syndrome |
|
Thrombocytopenia, Abnormal platelet function, Increased proportion of CD25+ mast cells, Abnormali... |
ORPHA:167 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia |
OMIM:616586 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Abnormal platelet morphology, Thrombocytopenia, Abnormal platelet function |
ORPHA:906 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Bradykinesia |
ORPHA:240094 |
| Noonan Syndrome |
|
Abnormal platelet function |
ORPHA:648 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
| Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Parkinsonism, Rigidity, Torticollis, Limb ataxia, Ataxia, Tre... |
ORPHA:48818 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
| Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Spastic gait, Dysdiadochokinesis, Upper limb po... |
ORPHA:99027 |
| Leukocyte Adhesion Deficiency |
|
Impaired neutrophil chemotaxis, Impaired platelet aggregation, Thrombocytosis, Bone marrow hypoce... |
ORPHA:2968 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor... |
OMIM:618056 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor |
OMIM:618527 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... |
OMIM:606002 |
| Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Bradykinesia |
OMIM:146500 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid apraxia, Abnor... |
OMIM:234200 |
| Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Parkinsonism, Rigidity, Eyelid apraxia, Limb dystonia, Tremor, Axial dystonia, Brady... |
OMIM:601104 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cerebral palsy |
ORPHA:853 |
