Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... |
OMIM:619491 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Memory impairment, Postural tremor, Abnormal pyramidal sign, Dementia, Progressive cerebellar ataxia |
ORPHA:85292 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... |
ORPHA:401901 |
Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Dystonia 22, Adult-Onset |
|
Upper limb postural tremor, Mental deterioration, Retrocollis, Babinski sign, Torticollis, Focal ... |
OMIM:620456 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:614561 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp |
OMIM:159900 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia |
OMIM:611105 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
OMIM:605909 |
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor |
ORPHA:308 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Sandhoff Disease, Adult Form |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
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 |
Spinocerebellar Ataxia Type 28 |
|
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... |
ORPHA:101109 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
Autosomal Spastic Paraplegia Type 72 |
|
Spastic gait, Postural tremor, Memory impairment, Rigidity |
ORPHA:401849 |
Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... |
OMIM:604326 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Mental deterioration, Depression, Confusion, Myoclonus, Emotional lability, Gait ataxia, Tremor, ... |
OMIM:615362 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
Dystonia 12 |
|
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Bradykinesia |
OMIM:128235 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... |
ORPHA:216873 |
Huntington Disease-Like 2 |
|
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Dementia,... |
OMIM:606438 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Tremor, Fasciculations |
ORPHA:99965 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... |
ORPHA:314632 |
Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:620482 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
Migraine, Familial Hemiplegic, 1 |
|
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
Corticobasal Syndrome |
|
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... |
ORPHA:454887 |
Spastic Ataxia 2, Autosomal Recessive |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... |
OMIM:611302 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Mental deterioration, Memory impairment, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... |
OMIM:213600 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxia |
OMIM:615768 |
Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Spinocerebellar Ataxia 48 |
|
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski ... |
OMIM:618093 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxi... |
OMIM:615924 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Chor... |
OMIM:261630 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... |
ORPHA:71517 |
Parkinson Disease 22, Autosomal Dominant |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:616710 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Memory impairment, Depression, Hand tremor, Chorea, Postural tremor, Parkinsonism, Cognitive impa... |
OMIM:615483 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Cognitive ... |
OMIM:617284 |
Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
Dystonia 23 |
|
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp |
OMIM:614860 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ... |
ORPHA:251282 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... |
ORPHA:98763 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... |
ORPHA:240103 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Irritability, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoat... |
OMIM:612126 |
Dystonia 22, Juvenile-Onset |
|
Mental deterioration, Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lo... |
OMIM:620453 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... |
ORPHA:99657 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Mental deterioration, Memory impairment, Depression, Tremor, Rigidity, Dystonia, Parkinsonism wit... |
ORPHA:240085 |
Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... |
OMIM:606159 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Parkinsonism With Polyneuropathy |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:619279 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... |
OMIM:615528 |
Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia |
ORPHA:210571 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo... |
OMIM:617145 |
Parkinson Disease 17 |
|
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia, Spasticity |
OMIM:618092 |
Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
Spinocerebellar Ataxia 50 |
|
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia |
OMIM:620158 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Clumsiness, Eosinophilia |
OMIM:253600 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
Spinocerebellar Ataxia 7 |
|
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... |
OMIM:164500 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Phenylketonuria |
|
Depression, Short attention span, Tremor, Lower limb spasticity, Ataxia, Dementia |
ORPHA:716 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration |
OMIM:176500 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... |
ORPHA:314978 |
Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Cognitive impairment, Tr... |
OMIM:607346 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... |
ORPHA:521406 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax... |
OMIM:619738 |
Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Perry Syndrome |
|
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Dementia |
ORPHA:178509 |
Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Caribbean Parkinsonism |
|
Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Par... |
ORPHA:97355 |
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
Gerstmann-Straussler Disease |
|
Spasticity, Memory impairment, Depression, Limb ataxia, Myoclonus, Emotional lability, Gait ataxi... |
OMIM:137440 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia |
ORPHA:306669 |
Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis |
ORPHA:363710 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Cognitive impairment, Motor deterio... |
ORPHA:79263 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Short attention span, Tremor, Dysmetria, Lower limb spasticity, Ataxia |
OMIM:619028 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
Urocanase Deficiency |
|
Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Irritability, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Prog... |
OMIM:261640 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Focal dystonia, Extrapyramidal muscular rigidity, Speech apr... |
ORPHA:99750 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Tremor, Rigidity, Irritability, Thrombocytopenia, Dystonia, Hemolytic anemia |
OMIM:615010 |
Epilepsy, Progressive Myoclonic, 6 |
|
Memory impairment, Myoclonus, Tremor, Ataxia |
OMIM:614018 |
Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Mental deterioration, Spasticity, Depression, Pill-rolling tremor, Re... |
OMIM:612953 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
ORPHA:329284 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Leukoencephalopathy With Calcifications And Cysts |
|
Mental deterioration, Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Cognitive ... |
ORPHA:542310 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
Spinocerebellar Ataxia 42 |
|
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... |
OMIM:616795 |
Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... |
ORPHA:101 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Cognitive impairment... |
ORPHA:98773 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Sneddon Syndrome |
|
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia |
ORPHA:820 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Cinca Syndrome |
|
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Confusio... |
ORPHA:282166 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Ataxia |
OMIM:617917 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign |
OMIM:610245 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Emotional lability, Tremor |
OMIM:616269 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Depression, Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia... |
OMIM:615157 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia |
OMIM:607876 |
Spinocerebellar Ataxia Type 27 |
|
Memory impairment, Depression, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia |
ORPHA:98764 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor |
OMIM:613608 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri... |
ORPHA:1170 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
Spinocerebellar Ataxia With Epilepsy |
|
Depression, Myoclonus, Gait ataxia, Dysmetria, Tremor, Progressive neurologic deterioration, Dyst... |
ORPHA:254881 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp... |
ORPHA:70594 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... |
ORPHA:397946 |
Crigler-Najjar Syndrome Type 1 |
|
Memory impairment, Tremor |
ORPHA:79234 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... |
ORPHA:53351 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
Classic Phenylketonuria |
|
Mental deterioration, Memory impairment, Depression, Hemiplegia, Paraplegia, Tremor, Attention de... |
ORPHA:79254 |
Fragile X Tremor/Ataxia Syndrome |
|
Mental deterioration, Memory impairment, Depression, Resting tremor, Postural tremor, Gait ataxia... |
OMIM:300623 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia |
OMIM:618587 |
Pgm3-Cdg |
|
Ataxia, Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, C... |
ORPHA:443811 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Mental deterioration, Limb myoclonus, Myoclonus, Tremor, Clumsiness, Eyelid myoclonus, Frequent f... |
ORPHA:2590 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Frontal lobe dementia, Chorea... |
ORPHA:157846 |
Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
Immunodeficiency 23 |
|
Lymphopenia, Myoclonus, Abscess, Eosinophilia, Neutropenia, Ataxia, Cortical myoclonus, Hemolytic... |
OMIM:615816 |
Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... |
OMIM:606693 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Mental deterioration, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Br... |
OMIM:300894 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
Hsd10 Disease |
|
Spastic paraparesis, Short attention span, Myoclonus, Tremor, Rigidity, Ataxia, Choreoathetosis |
ORPHA:391417 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Parkinsonism, Lower limb sp... |
ORPHA:3077 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Cognitive imp... |
OMIM:208920 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
Saccharopinuria |
|
Mental deterioration, Gait ataxia, Tremor, Cognitive impairment, Spastic diplegia |
ORPHA:3124 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Irritability, Dystonia, Opisthotonus, Pa... |
OMIM:617013 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Progressive neurologic d... |
OMIM:233910 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Co... |
ORPHA:352649 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia |
OMIM:213200 |
Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Myoclonus, Tremor, Dementia, Frequent falls |
OMIM:159950 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Confusion, Chorea, Cogwheel rigidity, Action tremor, Gait ataxi... |
OMIM:607483 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis |
OMIM:618049 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia |
ORPHA:39041 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hemolytic anemia, Hand tremor |
OMIM:609153 |
Neuronal Intranuclear Inclusion Disease |
|
Tremor, Rigidity, Cognitive impairment, Ataxia, Dementia |
OMIM:603472 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal... |
OMIM:616840 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, ... |
OMIM:128100 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
Ataxia With Vitamin E Deficiency |
|
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hyperto... |
ORPHA:96 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... |
OMIM:618877 |
Pelizaeus-Merzbacher Disease |
|
Mental deterioration, Spastic paraplegia, Depression, Generalized dystonia, Intention tremor, Tre... |
OMIM:312080 |
Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis |
OMIM:610185 |
Waisman Syndrome |
|
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... |
OMIM:311510 |
Multiple System Atrophy, Parkinsonian Type |
|
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... |
ORPHA:98933 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Tremor, Frequent falls |
OMIM:616719 |
Late-Infantile/Juvenile Krabbe Disease |
|
Mental deterioration, Spastic paraparesis, Hemiplegia, Spastic diplegia, Emotional lability, Trem... |
ORPHA:206443 |
Parkinson Disease, Late-Onset |
|
Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
OMIM:168600 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... |
OMIM:183090 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, Limb dy... |
ORPHA:363400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
4H Leukodystrophy |
|
Mental deterioration, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressiv... |
ORPHA:289494 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Memory impairment, Depression, Emotional lability, Tremor, Irritability, Rigidity,... |
ORPHA:683 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia |
OMIM:619911 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Emotional lability, Tremor, Dystonia, Ba... |
OMIM:300055 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Mental deterioration, Spasticity, Tremor |
OMIM:304700 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Hemiplegia, Decreased proportion of CD4-pos... |
OMIM:243700 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Progressive extrapyramidal muscular rigidity, Axial dystonia... |
ORPHA:240071 |
Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto... |
OMIM:613280 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, A... |
OMIM:614298 |
Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Focal dystonia, Generalized dystonia, Tremor, Ankle clonus, Babinski sign, ... |
ORPHA:52368 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis |
OMIM:614831 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Tremor, Cognitive impairment, Ataxia, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia |
OMIM:617388 |
Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Depression, Myoclonus, Tremor, Rigidity... |
ORPHA:199351 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
Aceruloplasminemia |
|
Ataxia, Blepharospasm, Involuntary movements, Memory impairment, Chorea, Limb ataxia, Gait ataxia... |
ORPHA:48818 |
Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Angiostrongyliasis |
|
Hypereosinophilia, Irritability |
ORPHA:74 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Mental deterioration, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hypertonia, Upper motor ... |
ORPHA:137898 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Memory impairment, Resting tremor, Gait ataxia, Intention tremor, Rigidity, Babinski ... |
ORPHA:247234 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia |
OMIM:250800 |
Parkinson Disease 1, Autosomal Dominant |
|
Mental deterioration, Depression, Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, De... |
OMIM:168601 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Mental deterioration, Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, ... |
ORPHA:442835 |
Sneddon Syndrome |
|
Lymphopenia, Tremor, Hemiplegia, Mental deterioration |
OMIM:182410 |
Igg4-Related Pachymeningitis |
|
Confusion, Mental deterioration, Eosinophilia, Paraparesis |
ORPHA:449427 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Progressive neurologic deterioration, Depression, Fasciculations, Tremor, Parkinsonism, Dementia,... |
ORPHA:329478 |
Parkinson Disease 20, Early-Onset |
|
Mental deterioration, Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykines... |
OMIM:615530 |
Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
Perry Syndrome |
|
Depression, Tremor, Rigidity, Dystonia, Parkinsonism, Frontotemporal dementia, Bradykinesia |
OMIM:168605 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Young-Onset Parkinson Disease |
|
Spasticity, Depression, Frontal lobe dementia, Short attention span, Tremor, Rigidity, Dystonia, ... |
ORPHA:2828 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Hemiplegia/hemiparesis |
ORPHA:183 |
Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, Frequent falls |
OMIM:210000 |
Incontinentia Pigmenti |
|
Spasticity, Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder, Eosinophilia, Cogni... |
ORPHA:464 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia |
OMIM:607694 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Hemiparesis, Eosinophilia, Abnormal spleen morphology, Ataxia, Anemia, Liver a... |
ORPHA:284 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Titubation, Dysmetria, Ataxia |
OMIM:619405 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
Idiopathic Hypereosinophilic Syndrome |
|
Memory impairment, Dementia, Confusion, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenom... |
ORPHA:3260 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess |
ORPHA:400 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia |
ORPHA:1578 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
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Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Eosinophilia, Macrocytic anemia |
ORPHA:199299 |
Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnorma... |
OMIM:105210 |
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 |
Tay-Sachs Disease |
|
Memory impairment, Depression, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Frequent... |
ORPHA:845 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Spasticity |
OMIM:308300 |
Serotonin Syndrome |
|
Mental deterioration, Confusion, Myoclonus, Tremor, Irritability, Rigidity, Clonus, Hypertonia, D... |
ORPHA:43116 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Spasticity, Spastic gait, Tetraparesis, Gait ataxia, Action tremor, D... |
ORPHA:99027 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration |
ORPHA:713 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Depression, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent... |
OMIM:612716 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Mental deterioration, Spasticity, Depression, Acanthocytosis, Tremor, Rigidity, Dy... |
OMIM:234200 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia |
OMIM:616586 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Mental deterioration, Memory impairment, Depression, Tremor, Ataxia |
ORPHA:79095 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Ataxia, D... |
ORPHA:25 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Mental deterioration, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Thrombocytopenia, I... |
OMIM:254900 |
Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Cognitive impairment |
ORPHA:228123 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Spastic gait, Memory impairment, Tremor, Babinski sign, Abnormal pyramidal sign, Dementia, Spasti... |
ORPHA:447753 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:274000 |
Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia |
OMIM:146500 |
Niemann-Pick Disease Type C |
|
Mental deterioration, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal... |
ORPHA:646 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
Ataxia-Telangiectasia |
|
Progressive cerebellar ataxia, Dysdiadochokinesis, Lymphopenia, Decreased proportion of CD4-posit... |
OMIM:208900 |
Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Frontolimbic dementia, Limb dystonia, Axial dystonia, Retrocollis, Irritabilit... |
OMIM:601104 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Tremor, Schistocytosis, Thrombocyt... |
OMIM:274150 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Splenomegaly, Tremor, Irritability, Ataxia |
OMIM:201100 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... |
OMIM:606002 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Cushing Disease |
|
Depression, Memory impairment, Lymphopenia, Leukocytosis, Emotional lability, Dementia, Decreased... |
ORPHA:96253 |
Igg4-Related Kidney Disease |
|
Eosinophilia |
ORPHA:449395 |
Sarcoidosis |
|
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:797 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia |
ORPHA:449563 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation |
OMIM:147060 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Splenomegaly |
ORPHA:75565 |
Viss Syndrome |
|
Hypereosinophilia |
OMIM:619472 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Depression, Memory impairment, Lymphopenia, Leukocytosis, Emotional lability, Dementia, Decreased... |
ORPHA:99889 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |