Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, EEG with generalized epileptiform discharges, Myoclonic seizure, Myoclonus,... |
OMIM:616187 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
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 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Mental deterioration, Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal moto... |
OMIM:614561 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... |
OMIM:615127 |
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 |
Migraine, Familial Hemiplegic, 1 |
|
Fever, Seizure, Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Demen... |
ORPHA:308 |
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 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... |
ORPHA:725 |
Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal impaired a... |
ORPHA:599373 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... |
OMIM:613608 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Memory impairment, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impairment, Ataxi... |
ORPHA:401901 |
Epilepsy, Progressive Myoclonic, 6 |
|
Memory impairment, Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave c... |
OMIM:614018 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Memory impairment, Postural tremor, Abnormal pyramidal sign, Dementia, Progressive cerebellar ataxia |
ORPHA:85292 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Action tremor, EEG with poly... |
OMIM:617665 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia |
OMIM:611105 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
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 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Seizure, Motor deterioration |
OMIM:601780 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... |
ORPHA:36387 |
Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Mental deterioration, Seizure, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyr... |
OMIM:615362 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:617831 |
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... |
OMIM:615400 |
Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Mental deterioration, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myo... |
OMIM:254800 |
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 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Weight loss, Splenomegaly, Anorexia |
ORPHA:52416 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Recurrent fever, Myoclonus, Tremor, Hypertonia, Progressive neurologic deterioration, Dy... |
OMIM:261630 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
Sandhoff Disease, Adult Form |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, EEG with polyspike wave complexes,... |
OMIM:618587 |
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 |
Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention def... |
OMIM:616421 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
Dravet Syndrome |
|
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Cognitive impairment, Phot... |
ORPHA:33069 |
Phenylketonuria |
|
Seizure, Short attention span, Tremor, Lower limb spasticity, EEG abnormality, Ataxia, Dementia |
ORPHA:716 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
Developmental And Epileptic Encephalopathy 78 |
|
Spasticity, Seizure, Cerebral palsy, Chorea, Hypothermia, Status epilepticus |
OMIM:618557 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal si... |
OMIM:615924 |
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 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... |
OMIM:608105 |
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 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Generalized myoclonic seizure, EEG with burst suppression, Focal-onset seizure, Hypothermia, Rigi... |
OMIM:614498 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Spasticity, Seizure, Interictal EEG abnormality, Generalized-onset seizure, Chorea, Myocl... |
ORPHA:79263 |
Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Clumsiness, Limb tremor... |
OMIM:256731 |
Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Hypsarrhythmia, Seizure, Tremor |
OMIM:619561 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
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, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dysto... |
OMIM:213600 |
Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Spinocerebellar Ataxia Type 28 |
|
Spasticity, Memory impairment, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dy... |
ORPHA:101109 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Seizure, Febrile seizure (within t... |
OMIM:616366 |
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 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Hyperto... |
OMIM:617106 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
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 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal impaired awareness seizure, Seizure, Chorea, Complex febrile seizure... |
ORPHA:31709 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... |
ORPHA:314632 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, EEG abnormality, Bilateral tonic-clonic se... |
OMIM:617836 |
Corticobasal Syndrome |
|
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... |
ORPHA:454887 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxia |
OMIM:615768 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Mental deterioration, Typical absence seizure, Limb myoclonus, Seizure, Myoclonus, Tremor, Clumsi... |
ORPHA:2590 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Seizure, Tremor, Rigidity, Cognitive impairment, Ataxi... |
OMIM:603472 |
Dystonia 22, Juvenile-Onset |
|
Mental deterioration, Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lo... |
OMIM:620453 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Pill-rolling tremor, Seizure, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal si... |
OMIM:615528 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Cognitive ... |
OMIM:617284 |
Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... |
ORPHA:98763 |
Spastic Ataxia 2, Autosomal Recessive |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... |
OMIM:611302 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
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 |
Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdiadochokinesis... |
OMIM:604326 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... |
ORPHA:240103 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
OMIM:605909 |
Spinocerebellar Ataxia 48 |
|
Mental deterioration, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilate... |
OMIM:618093 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ... |
ORPHA:251282 |
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 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Tremor, Ataxia |
ORPHA:29822 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Temperature instability, Oculogyric crisis, Cerebral palsy, Bradykinesia, Seizure, Tremor, Rigidi... |
ORPHA:70594 |
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 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Temperature instability, Tetraparesis, Action tremor, Hypothermia, Abnormal pyramidal... |
ORPHA:99027 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Mental deterioration, Spasticity, Decreased motor nerve conduction velocity, Tremor, Babinski sig... |
OMIM:609260 |
N-Acetylglutamate Synthase Deficiency |
|
Seizure, Confusion, Hypothermia, Cognitive impairment, Hypertonia, Clonic seizure |
OMIM:237310 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor |
OMIM:158580 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Seizure, Recurrent fever, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, ... |
OMIM:261640 |
Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia |
ORPHA:210571 |
Huntington Disease-Like 2 |
|
Memory impairment, Chorea, Action tremor, Rigidity, Dystonia, Dementia, Bradykinesia, Subcortical... |
OMIM:606438 |
Parkinson Disease 17 |
|
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Tremor, Dysm... |
OMIM:617810 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Memory impairment, Hand tremor, Chorea, Postural tremor, Parkinsonism, Cognitive impairment, Deme... |
OMIM:615483 |
Crigler-Najjar Syndrome Type 1 |
|
Memory impairment, Seizure, Tremor |
ORPHA:79234 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Short attention span, Tremor, Dysmetria, Bilateral tonic-clonic seizure with generaliz... |
OMIM:619028 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
Sneddon Syndrome |
|
Mental deterioration, Memory impairment, Seizure, Chorea, Tremor, Hemiparesis, Dementia |
ORPHA:820 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonus, EEG with occipital epileptiform disch... |
ORPHA:254881 |
Leukoencephalopathy With Calcifications And Cysts |
|
Mental deterioration, Spasticity, Seizure, Tremor, Abnormal pyramidal sign, Cognitive impairment,... |
ORPHA:542310 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... |
OMIM:619279 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
ORPHA:329284 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo... |
OMIM:617145 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Spinocerebellar Ataxia 50 |
|
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia |
OMIM:620158 |
Spinocerebellar Ataxia 7 |
|
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... |
OMIM:164500 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Dystonia, Seizure, Hypertonia |
OMIM:614654 |
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 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Mental deterioration, Memory impairment, Tremor, Rigidity, Dystonia, Parkinsonism with favorable ... |
ORPHA:240085 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Spastic parapar... |
ORPHA:206443 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
Menkes Disease |
|
Seizure, Epileptic spasm, Hypothermia, Babinski sign, Hypsarrhythmia, Hypertonia |
OMIM:309400 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Cognitive impairment, Tr... |
OMIM:607346 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... |
ORPHA:521406 |
Caribbean Parkinsonism |
|
Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Par... |
ORPHA:97355 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Dementia, Frequent falls, Ge... |
OMIM:159950 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... |
ORPHA:280219 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Dement... |
OMIM:616710 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Weight loss, Splenomegaly, Anorexia |
ORPHA:86893 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Tremor, Fasciculations |
ORPHA:65684 |
Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Glut1 Deficiency Syndrome 2 |
|
Seizure, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Seizure, Confusion, ... |
ORPHA:282166 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-... |
ORPHA:1942 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Trem... |
ORPHA:330050 |
Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia |
OMIM:128235 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Temperature instability, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystoni... |
OMIM:618049 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Generalized myoclonic seizure, EEG with burst suppression, Epileptic spasm, T... |
OMIM:612164 |
Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
Saccharopinuria |
|
Mental deterioration, Seizure, Gait ataxia, Tremor, Cognitive impairment, Spastic diplegia |
ORPHA:3124 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Seizure, Recurrent fever, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Progressive ... |
OMIM:233910 |
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:620482 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis |
ORPHA:363710 |
Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Seizure, Limb ataxia... |
ORPHA:101 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Mental deterioration, Spasticity, Involuntary movements, Seizure, Abnormality of coordination, My... |
ORPHA:442835 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Seizure |
OMIM:610006 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia |
ORPHA:100083 |
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 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Temperature instability, Oculogyric crisis, Intermittent hypothermia, Limb dystoni... |
OMIM:608643 |
Urocanase Deficiency |
|
Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
Immunodeficiency 104 |
|
Splenomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy |
OMIM:608971 |
Hsd10 Disease |
|
Spastic paraparesis, Seizure, Short attention span, Myoclonus, Tremor, Rigidity, Ataxia, Choreoat... |
ORPHA:391417 |
Migraine, Familial Hemiplegic, 2 |
|
Fever, Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Aprax... |
OMIM:602481 |
Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Mental deterioration, Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Dem... |
OMIM:300894 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Focal dystonia, Generalized dystonia, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
Ataxia With Vitamin E Deficiency |
|
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hyperto... |
ORPHA:96 |
Classic Phenylketonuria |
|
Mental deterioration, Memory impairment, Seizure, Hemiplegia, Paraplegia, Tremor, Attention defic... |
ORPHA:79254 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... |
ORPHA:71517 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Fever, Seizure, Tetraparesis, Confusion, Chorea, Cogwheel rigidity, Action tr... |
OMIM:607483 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus, Hypothermia |
ORPHA:168593 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Ataxia |
OMIM:617917 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign |
OMIM:610245 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Focal dystonia, Extrapyramidal muscular rigidity, Speech apr... |
ORPHA:99750 |
Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Pa... |
OMIM:606693 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Progressive psychomotor deterioration... |
ORPHA:363400 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
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 |
Mast Cell Sarcoma |
|
Weight loss, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:66661 |
Developmental And Epileptic Encephalopathy 46 |
|
Seizure, Generalized-onset seizure, Tremor, Hypsarrhythmia, Limb hypertonia |
OMIM:617162 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Seizure, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG abnormality, Bilater... |
ORPHA:529665 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... |
ORPHA:397946 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Mental deterioration, Spasticity, Pill-rolling tremor, Resting tremor... |
OMIM:612953 |
Atypical Rett Syndrome |
|
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Neonatal seizure, Hand ap... |
ORPHA:3095 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Abnormal sensory nerve conduction velocity, Tremor, Fasciculations |
ORPHA:276435 |
Waisman Syndrome |
|
Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable r... |
OMIM:311510 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Tremor, Dysmetria, Rigidity, Tonic seizure, Bilateral tonic-clonic seizure, Generali... |
OMIM:618090 |
X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... |
ORPHA:53351 |
4H Leukodystrophy |
|
Mental deterioration, Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, P... |
ORPHA:289494 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Tremor, Ataxia |
ORPHA:101075 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Cognitive impairment... |
ORPHA:98773 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:615157 |
Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Spa... |
OMIM:616795 |
Follicular Lymphoma |
|
Weight loss, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:545 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia |
OMIM:619738 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Seizure, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, Status epilepticus, Intent... |
OMIM:614307 |
Gerstmann-Straussler Disease |
|
Spasticity, Memory impairment, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonis... |
OMIM:137440 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... |
OMIM:612016 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Seizure, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bilat... |
OMIM:619911 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Cognitive imp... |
OMIM:208920 |
Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
EEG with abnormally slow frequencies, Fever, Seizure, Hypothermia, Abnormality of temperature reg... |
OMIM:618493 |
Perry Syndrome |
|
Dementia, Parkinsonism, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Tongue fasciculations, Hypothermia, Exaggerated startle response |
OMIM:608800 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
Pelizaeus-Merzbacher Disease |
|
Mental deterioration, Spastic paraplegia, Generalized dystonia, Seizure, Intention tremor, Tremor... |
OMIM:312080 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration |
OMIM:176500 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Seizure, Hemiplegia, Chorea, Short ... |
ORPHA:225147 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Infantile spasms, Tremor, Ataxia |
OMIM:278780 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Cellulitis, Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Frontal lobe dementia, Chorea... |
ORPHA:157846 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Tremor, Ataxia |
ORPHA:101078 |
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 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Fragile X Tremor/Ataxia Syndrome |
|
Mental deterioration, Memory impairment, Resting tremor, Postural tremor, Gait ataxia, Action tre... |
OMIM:300623 |
Spinocerebellar Ataxia Type 27 |
|
Memory impairment, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia |
ORPHA:98764 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Progressive neurologic deterioration, Fasciculations, Decreased nerve conduction velocity, Tremor... |
ORPHA:329478 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Seizure, EEG with generalized slow activ... |
OMIM:300055 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Pseudomyxoma Peritonei |
|
Hernia, Weight loss, Lymphadenopathy |
ORPHA:26790 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... |
OMIM:618877 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Mental deterioration, Seizure, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hypertonia, Upp... |
ORPHA:137898 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Seizure, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Dys... |
OMIM:617435 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Enlarged mesenteric lym... |
OMIM:209950 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Progressive neurologic deterioration, Spasticity, Myoclonic seizure, Hypothermia |
OMIM:618329 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... |
OMIM:183090 |
Alexander Disease |
|
Spasticity, Seizure, Chorea, Hypothermia, Tremor, Abnormal pyramidal sign, Clonus, Tetraplegia, E... |
ORPHA:58 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Mental deterioration, Spasticity, Tremor |
OMIM:304700 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis |
OMIM:610185 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... |
OMIM:617013 |
Mu-Heavy Chain Disease |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Fever, Seizure, Spastic hemiparesis, Myoclonus, Hypothermia, Hypsarrhythmia, EEG abno... |
ORPHA:20 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Seizure, Tremor, Attention deficit hyperactivity disorder, Hypertonia, Ataxia |
OMIM:619556 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Sneddon Syndrome |
|
Mental deterioration, Seizure, Hemiplegia, Tremor |
OMIM:182410 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Seizure, Focal EEG discharges with secondary generalization, Tremor, Parkinsonism... |
ORPHA:3077 |
Nipah Virus Disease |
|
Myoclonus, Fever, Tremor |
ORPHA:99825 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Seizure, Tremor |
ORPHA:276608 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Spasticity, Seizure, EEG abnormality, Tremor |
OMIM:618718 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:391 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Seizure, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis |
OMIM:614831 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Photosensitive myoclonic seizure, Tremor, Hypertonia |
ORPHA:1192 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Progressive extrapyramidal muscular rigidity, Axial dystonia... |
ORPHA:240071 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Spasticity, Fever, Seizure, Chorea, Infantile spasms, Gait ataxia, Hypothermia, Hypertonia, Ataxi... |
ORPHA:255210 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Tremo... |
ORPHA:477673 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal... |
OMIM:616840 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... |
ORPHA:206594 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Pfapa Syndrome |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy |
OMIM:618987 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Serotonin Syndrome |
|
Mental deterioration, Fever, Seizure, Confusion, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia,... |
ORPHA:43116 |
Meningococcal Meningitis |
|
Fever, Hypothermia, Seizure |
ORPHA:33475 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Timothy Syndrome |
|
Hypothermia, Seizure |
OMIM:601005 |
Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Bradykinesia, Myoclonus, Tremo... |
ORPHA:199351 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Gait ataxia, Myoclonus, Tremor, Bilateral tonic-clonic seizure with generalize... |
OMIM:619092 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency 64 With Lymphoproliferation |
|
Failure to thrive, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, M... |
OMIM:618534 |
Trisomy X |
|
Attention deficit hyperactivity disorder, Seizure, Cognitive impairment, Tremor |
ORPHA:3375 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity |
DECIPHER:39 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Lymphadenopathy |
OMIM:619220 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
EEG with abnormally slow frequencies, Seizure, Heat intolerance, Myoclonus, Short attention span,... |
ORPHA:98794 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls |
OMIM:616719 |
Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Tbck-Related Intellectual Disability Syndrome |
|
EEG with generalized epileptiform discharges, Seizure, Hypothermia, Cognitive impairment, Multifo... |
ORPHA:488632 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Ethylene Glycol Poisoning |
|
Seizure, Confusion, Myoclonus, Hypothermia, Ataxia, Slurred speech |
ORPHA:31826 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Seizure, Tremor, Babinski sign, Limb hypertonia, EEG abnormality, Dystonia |
ORPHA:35708 |
Caspase 8 Deficiency |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:607271 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Generalized lipodystrophy, Splenomegaly, Lymphadenopathy, Flexion contracture, Panniculitis |
OMIM:619183 |
Cystathioninuria |
|
Seizure, Tremor |
ORPHA:212 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Mental deterioration, Memory impairment, Seizure, Dementia, Infantile spasms, Hypothermia, Ataxia... |
ORPHA:79282 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Seizure, Short attention span, Myoclonus, Hypothermia, Hyperkinetic movements, Hypertonia, Dyston... |
ORPHA:17 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Seizure, Chorea, Infantile spasms, Limb dystonia, Tremor, Rigidity, Cogn... |
ORPHA:25 |
Ataxia-Telangiectasia |
|
Spasticity, Seizure, Tremor, Cognitive impairment, Ataxia |
ORPHA:100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Hand tremor, Incoordination, Dysmetria, Tremor, Babins... |
OMIM:302800 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:620141 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Memory impairment, Resting tremor, Gait ataxia, Intention tremor, Rigidity, Babinski ... |
ORPHA:247234 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst... |
OMIM:128100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Japanese Encephalitis |
|
Opisthotonus, Cognitive impairment, Focal motor seizure, Choreoathetosis, Cogwheel rigidity, Hype... |
ORPHA:79139 |
Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Seizure, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis... |
OMIM:105210 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lympha... |
OMIM:602450 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Seizure, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia |
OMIM:607694 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
Immunodeficiency 52 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:617514 |
Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Fever, Extrapyramidal muscular rigidity, Chorea, Hypothermia, Tremor, Delirium |
ORPHA:94093 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
OMIM:168600 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno... |
OMIM:615559 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Follicular hyperplasia, Lymphadenopathy |
OMIM:619846 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center, Failure to thrive |
ORPHA:277 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Memory impairment, Chorea, Limb ataxia, Gait ataxia, Tremor... |
ORPHA:48818 |
Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... |
OMIM:613280 |
Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, Frequent falls |
OMIM:210000 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Mental deterioration, Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal mot... |
OMIM:614298 |
Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Focal myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Short atte... |
OMIM:619229 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
OMIM:613101 |
Parkinson Disease 1, Autosomal Dominant |
|
Mental deterioration, Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, Dementia, Brad... |
OMIM:168601 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Failure to thrive, Lymphadenopathy |
ORPHA:397596 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Tay-Sachs Disease |
|
Memory impairment, Typical absence seizure, Decerebrate rigidity, Seizure, Laryngeal dystonia, In... |
ORPHA:845 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Titubation, Dysmetria, Ataxia |
OMIM:619405 |
Early Infantile Epileptic Encephalopathy |
|
Spasticity, Generalized non-motor (absence) seizure, Episodic ataxia, Seizure, EEG with burst sup... |
ORPHA:1934 |
Young-Onset Parkinson Disease |
|
Spasticity, Frontal lobe dementia, Short attention span, Tremor, Rigidity, Dystonia, Cognitive im... |
ORPHA:2828 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Spastic gait, Memory impairment, Seizure, Tremor, Babinski sign, Abnormal pyramidal sign, Dementi... |
ORPHA:447753 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Mental deterioration, Memory impairment, Seizure, Tremor, Ataxia |
ORPHA:79095 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Seizure, Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoc... |
OMIM:618060 |
Parkinson Disease 20, Early-Onset |
|
Mental deterioration, Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykines... |
OMIM:615530 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:618495 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Memory impairment, Tremor, Rigidity, Dystonia, Cognitive impairment, Dementia, Bra... |
ORPHA:683 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Lymphadenopathy |
ORPHA:858 |
Meige Disease |
|
Cellulitis, Atypical scarring of skin, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Immunodeficiency 54 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:609981 |
Perry Syndrome |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism, Frontotemporal dementia, Dystonia |
OMIM:168605 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Leishmaniasis |
|
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:507 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology |
OMIM:612840 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Seizure |
ORPHA:159 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Seizure, Tremor |
ORPHA:397744 |
Sepsis In Premature Infants |
|
Fever, Temperature instability, Hypothermia, Seizure |
ORPHA:90051 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Metachromatic Leukodystrophy |
|
Decerebrate rigidity, Seizure, Incoordination, Decreased nerve conduction velocity, Tremor, Ataxi... |
ORPHA:512 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Clumsiness, Attention deficit hyperactivity disorder, Hypothermia |
ORPHA:90674 |
Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly |
OMIM:620282 |
Immunodeficiency 7 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:615387 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Failure to thrive, Lymphadenopathy |
OMIM:618048 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Tularemia |
|
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss, Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:142 |
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 |
Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:1332 |
Encephalitis Lethargica |
|
Mental deterioration, Fever, Seizure, Tremor, Parkinsonism |
ORPHA:83600 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy |
OMIM:620514 |
Thyroid Lymphoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Mercury Poisoning |
|
Confusion, Dystonia, Seizure, Tremor |
ORPHA:330021 |
Tetanus |
|
Fever, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, Hypertonia |
ORPHA:3299 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
Hyperlysinemia |
|
Poor motor coordination, Seizure, EEG with spike-wave complexes, Short attention span, Dysmetria,... |
ORPHA:2203 |
Nephroblastoma |
|
Weight loss, Lymphadenopathy |
ORPHA:654 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Seizure, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exagger... |
OMIM:618056 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Splenomegaly, Cachexia, Lymphadenopathy, Anorexia |
ORPHA:824 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Seizure, Infantile spasms, Tremor, Hypsarrhythmia, Hypertonia |
OMIM:608093 |
Rhabdoid Tumor |
|
Weight loss, Lymphadenopathy |
ORPHA:69077 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Mental deterioration, Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action ... |
OMIM:254900 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Hemidystonia, Seizure, Speech apraxia, Tremor, Attention deficit hyperactivity disorder, Torticollis |
OMIM:619680 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia |
OMIM:616586 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Panniculitis, Lymphadenopathy, Lipodystrophy |
OMIM:617099 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Seizure |
OMIM:251880 |
Niemann-Pick Disease Type C |
|
Mental deterioration, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Cog... |
ORPHA:646 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Failure to thrive, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenop... |
ORPHA:911 |
Alternating Hemiplegia Of Childhood |
|
Episodic hemiplegia, Tetraparesis, Seizure, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oc... |
ORPHA:2131 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Roifman Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Hip contracture |
ORPHA:353298 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy, Hip contracture |
OMIM:616651 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Splenomegaly, Lipodystrophy, Lymphadenopathy, Flexion contracture, Panniculitis |
OMIM:617591 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:3226 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Seizure |
OMIM:223360 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Progressi... |
OMIM:614947 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
ORPHA:26793 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia, Failure to thrive |
ORPHA:276 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
OMIM:615122 |
Menkes Disease |
|
Spasticity, Seizure, Chorea, Hypothermia, Hypertonia |
ORPHA:565 |
Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia |
OMIM:146500 |
Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Asplenia, Lymphadenopathy |
OMIM:614034 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:98850 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Opisthotonus, Hypertonia, Tremor |
OMIM:250800 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:607115 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:257200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Seizure, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, EEG abnormality, Ataxia, Truncal... |
OMIM:615356 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Weight loss, Generalized lymphadenopathy |
ORPHA:33276 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Cellulitis |
ORPHA:2686 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Chorea, Head tremor, Gait ataxia, Limb ataxia, Tremor,... |
OMIM:606002 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:619644 |
Felty Syndrome |
|
Cellulitis, Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:47612 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy |
OMIM:603909 |
Klatskin Tumor |
|
Weight loss, Lymphadenopathy |
ORPHA:99978 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:619750 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Legionnaires Disease |
|
Cellulitis, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia |
ORPHA:549 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Mental deterioration, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parki... |
OMIM:234200 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Ankle flexion contracture, Generalized lymphadenopathy, Knee flexion contracture, Hip contracture |
OMIM:620232 |
Pancreatoblastoma |
|
Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
Acute Intermittent Porphyria |
|
Mental deterioration, Memory impairment, Fever, Seizure, Pseudobulbar paralysis, Confusion, Tremo... |
ORPHA:79276 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618935 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Unexplained fevers, Recurrent fever, Short attention span, Hypothermia, Abnormality of peripheral... |
ORPHA:642 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia, Failure to thrive |
OMIM:613179 |
Marburg Hemorrhagic Fever |
|
Fever, Seizure, Confusion, Hypothermia, Atypical absence status epilepticus |
ORPHA:99826 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Weight loss, Anorexia |
ORPHA:514 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Failure to thrive |
ORPHA:98813 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Confusion, Fever, Tremor |
OMIM:274150 |
Gamma-Heavy Chain Disease |
|
Dysphagia, Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Chronic noninfectious lymphaden... |
ORPHA:97289 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
Omenn Syndrome |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
ORPHA:39041 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:381 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Failure to thrive in infancy, Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils |
OMIM:606367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Involuntary movements, Bilateral tonic-clonic seizure on awakening, Seizure, Epileptic spasm, Myo... |
ORPHA:438213 |
Castleman Disease |
|
Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Mediastinal ly... |
ORPHA:160 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:520 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Hypocalcification of dental enamel |
ORPHA:169090 |
Graft Versus Host Disease |
|
Failure to thrive, Fasciitis, Hepatosplenomegaly, Dupuytren contracture, Lipodystrophy, Lymphaden... |
ORPHA:39812 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus |
OMIM:603554 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia |
ORPHA:1578 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Frontolimbic dementia, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, T... |
OMIM:601104 |
Immunodeficiency 10 |
|
Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy |
OMIM:612783 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Weight loss, Lymphadenopathy, Abnormal lymph node morphology |
ORPHA:85450 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Failure to thrive, Lymphadenopathy |
ORPHA:169154 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:619802 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... |
OMIM:612716 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100080 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Splenomegaly, Weight loss, Generalized lymphadenopathy, Lymphadenopathy |
ORPHA:829 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Cellulitis, Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis |
OMIM:618986 |
Cinca Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Mevalonic Aciduria |
|
Failure to thrive, Fluctuating splenomegaly, Failure to thrive in infancy, Hepatosplenomegaly, Ly... |
OMIM:610377 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Lymphadenopathy |
OMIM:304790 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center, Failure to thrive |
OMIM:308230 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Failure to thrive, Lymphadenopathy |
OMIM:614700 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
OMIM:301078 |
Familial Pancreatic Carcinoma |
|
Hepatosplenomegaly, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:1333 |
Poems Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Lipodystrophy |
ORPHA:2905 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100082 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Cellulitis, Failure to thrive, Lymphadenopathy |
OMIM:617718 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Hypothermia, Seizure |
ORPHA:293987 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Malt Lymphoma |
|
Weight loss, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Failure to thrive, Lymphadenopathy |
OMIM:615895 |
Tafro Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:457077 |
Bronchial Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:97287 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Splenomegaly, Hepatosplenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:603553 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anorexia |
ORPHA:139411 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Weight loss, Generalized ... |
ORPHA:50918 |
H Syndrome |
|
Hepatosplenomegaly, Hernia, Lipodystrophy, Lymphadenopathy, Camptodactyly |
ORPHA:168569 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia |
ORPHA:226307 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:809 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss, Lymphadenopathy |
ORPHA:139402 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100086 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
Farber Disease |
|
Hepatosplenomegaly, Flexion contracture, Failure to thrive, Lymphadenopathy |
ORPHA:333 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Cervical lymphadenopathy, Elbow flexion contracture, Hepatosplenomegaly,... |
OMIM:602782 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:540 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Lymphadenopathy, Anorexia |
ORPHA:33226 |
Q Fever |
|
Hepatosplenomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:781 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enthesitis, Flexion contracture |
ORPHA:85408 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Hepatosplenomegaly, Absence of lymph node germinal center |
ORPHA:79124 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Hyper-Igd Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:260920 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Panniculitis, Agi... |
OMIM:615688 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
Neuroblastoma |
|
Weight loss, Lymphadenopathy |
ORPHA:635 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Failure to thrive, Polysplenia, Failure to thrive in infancy, Splenomegaly, Lym... |
OMIM:619418 |
Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Lymphatic Filariasis |
|
Lymphadenitis, Lymphadenopathy, Lymphangiectasis, Abnormality of the lymphatic system |
ORPHA:2035 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Failure to thrive, Lymphadenopathy |
ORPHA:83471 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:98849 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection, Failure to thrive |
OMIM:600802 |
Cherubism |
|
Submandibular lymph node enlargement, Macular scar |
OMIM:118400 |
Selective Igm Deficiency |
|
Cellulitis, Lymphadenitis, Lymphadenopathy, Fasciitis |
ORPHA:331235 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Camptodactyly of finger, Elbow flexion contracture, Loss of facial adipose tis... |
OMIM:256040 |
Sarcoidosis |
|
Fever, Hypothermia |
ORPHA:797 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Splenomegaly, Cachexia, Lymphadenopathy |
ORPHA:37042 |
Multiple Myeloma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:29073 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:214500 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Lymphangioleiomyomatosis |
|
Shagreen patch, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system |
ORPHA:538 |
Immunodeficiency 31C |
|
Splenomegaly, Weight loss, Lymphadenopathy |
OMIM:614162 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Cellulitis, Splenomegaly, Lymphadenopathy, Fasciitis |
ORPHA:32960 |
Hennekam Syndrome |
|
Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma |
ORPHA:2136 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Hypersplenism, Chronic noninfectious lymphadenopathy, Splenomegaly, ... |
ORPHA:3261 |
Coccidioidomycosis |
|
Atypical scarring of skin, Abnormality of the spleen, Lymphadenopathy, Panniculitis, Mediastinal ... |
ORPHA:228123 |
Congenital Syphilis |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:499009 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
Brucellosis |
|
Failure to thrive, Hypersplenism, Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Small for... |
ORPHA:1304 |
Ileal Neuroendocrine Tumor |
|
Weight loss, Lymphadenopathy |
ORPHA:100078 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:167 |
Tangier Disease |
|
Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy |
ORPHA:31150 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Generalized lymphadenopathy, Weight loss, Anorexia, Mediastinal lymphadenopathy |
OMIM:181000 |
Behçet Disease |
|
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:117 |
Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Follicular hyperplasia, Weight loss, Lymphadenopathy, Anorexia |
OMIM:619381 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Anorexia, Neoplasm of the thymus, Dorsocervical fat pad, Increase... |
ORPHA:99889 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy, Enthesitis |
ORPHA:324625 |
Systemic Lupus Erythematosus |
|
Weight loss, Lymphadenopathy, Anorexia |
ORPHA:536 |
Familial Mediterranean Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Igg4-Related Kidney Disease |
|
Weight loss, Lymphadenitis, Lymphadenopathy |
ORPHA:449395 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:667 |
Crimean-Congo Hemorrhagic Fever |
|
Splenomegaly, Lymphadenopathy, Agitation, Anorexia |
ORPHA:99827 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss, Lymphadenopathy |
ORPHA:79078 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
African Trypanosomiasis |
|
Hepatosplenomegaly, Splenomegaly, Aggressive behavior, Weight loss, Lymphadenopathy |
ORPHA:3385 |
Blau Syndrome |
|
Splenomegaly, Lymphadenopathy, Camptodactyly of finger |
ORPHA:90340 |
Primary Sjögren Syndrome |
|
Lymphadenopathy |
ORPHA:289390 |
Leptospirosis |
|
Lymphadenopathy, Anorexia |
ORPHA:509 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy |
ORPHA:449563 |
1P36 Deletion Syndrome |
|
Seizure, EEG abnormality, Hemiplegia/hemiparesis |
ORPHA:1606 |