Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myo... |
OMIM:616187 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Seizure, Abnormality of extrapyram... |
OMIM:614561 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Migraine, Familial Hemiplegic, 1 |
|
Fever, Ataxia, Confusion, Tremor, Hemiparesis, Seizure, Hemiplegia |
OMIM:141500 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je... |
ORPHA:308 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram... |
ORPHA:79262 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
Continuous Spikes And Waves During Sleep |
|
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... |
ORPHA:725 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... |
ORPHA:599373 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... |
ORPHA:401901 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Memory impairment |
ORPHA:85292 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Seizure, Abnormal nervous system electrophysiology, Motor deterioration |
OMIM:601780 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Ataxia, Poor coordination, Generalized non-motor (absence) sei... |
OMIM:617665 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Confusion, Tremor, Focal-onset seizure, Babinski sign, Ga... |
OMIM:615362 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... |
OMIM:254800 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dy... |
OMIM:261630 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity |
ORPHA:309169 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus |
ORPHA:86814 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... |
ORPHA:33069 |
Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Hypothermia, Chorea, Seizure, Status epilepticus, Spasticity |
OMIM:618557 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Mental deter... |
OMIM:615924 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Clonus, Hypothermia, Focal motor status epilepticus, Rigidity, Focal-onset s... |
OMIM:614498 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Abnormal nervous system ... |
OMIM:256731 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsin... |
ORPHA:79263 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Seizure, Epileptic spasm, Hypsarrhythmia |
OMIM:619561 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis... |
OMIM:213600 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Cognitive impairment, ... |
ORPHA:314632 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia... |
OMIM:617836 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity |
OMIM:615768 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Seizure, Dementia, Cognitive... |
OMIM:603472 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Cln5 Disease |
|
Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, Focal-onset seizure, ... |
ORPHA:228360 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... |
ORPHA:98763 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Cogn... |
OMIM:615528 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme... |
OMIM:617284 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Demen... |
OMIM:604326 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... |
ORPHA:240103 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Cogn... |
ORPHA:216873 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Hypothermia |
ORPHA:29822 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Cognitive impairment,... |
ORPHA:70594 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ... |
ORPHA:2590 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic mo... |
OMIM:233910 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Hypertonia, Mental deterioratio... |
OMIM:609260 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia |
ORPHA:210571 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Se... |
OMIM:261640 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Bradykinesia, Dementia, Dystonia, Memory impairment, Acti... |
OMIM:606438 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl... |
OMIM:617810 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Seizure, Memory impairment |
ORPHA:79234 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Short attention span, Bilateral tonic-clonic seizure with generalized onse... |
OMIM:619028 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Seizure, Dementia, Mental deterioration, Memory impairment |
ORPHA:820 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy... |
ORPHA:254881 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Dementia, Spastic paraparesis |
ORPHA:329284 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor |
OMIM:620158 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Seizure, Hypertonia, Hypothermia, Dystonia |
OMIM:614654 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Parkinsonism w... |
ORPHA:240085 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Cognitive impairment, Dyst... |
ORPHA:542310 |
Menkes Disease |
|
Epileptic spasm, Hypothermia, Babinski sign, Hypsarrhythmia, Seizure, Hypertonia |
OMIM:309400 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Dementia, Tongue fasciculations, Myoclonus, Generalized myoclo... |
OMIM:159950 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... |
ORPHA:1942 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Titu... |
ORPHA:280219 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia, Te... |
OMIM:618049 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable response to dopamin... |
OMIM:616710 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy |
ORPHA:86893 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, EEG abnormality, Dystonia |
OMIM:612126 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Babinski ... |
OMIM:608643 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Focal im... |
ORPHA:330050 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... |
OMIM:612164 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia, Seizure, Cognitive impairment, Mental deterioration |
ORPHA:3124 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ... |
OMIM:619725 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Hypsarrhythmia, EEG... |
ORPHA:442835 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Memory impairment, Dyssynergia, Dysmetria, Gait ataxia, Choreoathe... |
ORPHA:101 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100083 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Seizure, Hypothermia |
OMIM:610006 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Fever, Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal ... |
OMIM:607483 |
Immunodeficiency 104 |
|
Splenomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy |
OMIM:608971 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Myoclonus, Spastic para... |
ORPHA:391417 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Dementia, Spastic paraparesis, M... |
OMIM:300894 |
Trisomy X |
|
Tremor, Seizure, Attention deficit hyperactivity disorder, Cognitive impairment |
ORPHA:3375 |
Migraine, Familial Hemiplegic, 2 |
|
Fever, Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysmetria, Gait at... |
OMIM:602481 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Classic Phenylketonuria |
|
Tremor, Mental deterioration, Paraplegia, Seizure, Hypertonia, Attention deficit hyperactivity di... |
ORPHA:79254 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus, Hypothermia |
ORPHA:168593 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... |
ORPHA:276435 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia |
ORPHA:1368 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnor... |
ORPHA:52368 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive psychomotor deterio... |
ORPHA:363400 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
Mast Cell Sarcoma |
|
Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait ataxia, Generali... |
OMIM:618090 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Dementia, Parki... |
OMIM:311510 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Hypsarrhythmia, Seizure, Limb hypertonia |
OMIM:617162 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Infantile spasms, Tremor, Gait ataxia, Pill-rolling tremor, Seiz... |
ORPHA:3095 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... |
OMIM:614307 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of e... |
ORPHA:289494 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Cognitive impairment, Spa... |
OMIM:616795 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, EEG abnormality, Status ... |
ORPHA:529665 |
Follicular Lymphoma |
|
Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Dementia, Myoclonus, Trun... |
OMIM:137440 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Mental deterioration, Limb ataxia, Gait ataxia, Dementia, Cogni... |
OMIM:208920 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo... |
OMIM:619911 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia, EEG with abnormally slow frequencies, ... |
OMIM:618493 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Perry Syndrome |
|
Tremor, Dementia, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity |
OMIM:176500 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Short attention span, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, A... |
ORPHA:225147 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Cellulitis, Lymphadenopathy |
OMIM:615513 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Infantile spasms |
OMIM:278780 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation,... |
OMIM:312080 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Decreased nerve conduction velocity, Ataxia |
ORPHA:101078 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Tongue fasciculations, Hypothermia |
OMIM:608800 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Memory impairment |
ORPHA:98764 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... |
OMIM:300623 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia |
OMIM:617916 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, Focal impaired ... |
OMIM:617435 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Pseudomyxoma Peritonei |
|
Weight loss, Hernia, Lymphadenopathy |
ORPHA:26790 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Clumsiness, Poor fine motor coordination, ... |
ORPHA:137898 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Spasticity, Progressive neurologic deterioration, Hypothermia, Myoclonic seizure |
OMIM:618329 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
Alexander Disease |
|
Ataxia, Clonus, Hypothermia, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Seizure, EEG a... |
ORPHA:58 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor |
OMIM:610185 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Babin... |
OMIM:617013 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:100024 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Mental deterioration, Dystonia |
OMIM:304700 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Ataxia, Hypothermia, Spastic hemiparesis, Hypsarrhythmia, Seizure, EEG abnormality, Myoclo... |
ORPHA:20 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Weight loss, Lymphadenopathy, Hepatosplen... |
OMIM:209950 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Seizure, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:619556 |
Sneddon Syndrome |
|
Tremor, Seizure, Hemiplegia, Mental deterioration |
OMIM:182410 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
ORPHA:206594 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Seizure, Spasticity, EEG abnormality |
OMIM:618718 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Lower limb spasticity, Parkinsonism, Focal EEG discharges with secondary generali... |
ORPHA:3077 |
Immunodeficiency 52 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:617514 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... |
OMIM:607060 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Seizure, Progressive neurologic deterioration |
ORPHA:276608 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystonia, Mental ... |
OMIM:616840 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Abnormal nerve conduction velocity |
ORPHA:99014 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis |
OMIM:614831 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas... |
ORPHA:240071 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Photosensitive myoclonic seizure, Progressive neurologic deterioration |
ORPHA:1192 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Decreased nerve conduction velocity, ... |
ORPHA:329478 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Hypothermia, Chorea, Gait ataxia... |
ORPHA:255210 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Failure to thrive in infancy |
OMIM:618987 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 mo... |
ORPHA:477673 |
Nipah Virus Disease |
|
Fever, Seizure, Tremor, Myoclonus |
ORPHA:99825 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Classic Hodgkin Lymphoma |
|
Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Serotonin Syndrome |
|
Fever, Clonus, Confusion, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Mental deterioration,... |
ORPHA:43116 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Meningococcal Meningitis |
|
Fever, Seizure, Hypothermia |
ORPHA:33475 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t... |
ORPHA:199351 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Ataxia, EEG with abnormally slow frequencies, Tremor, Seizure, EEG abnormal... |
ORPHA:98794 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Timothy Syndrome |
|
Seizure, Hypothermia |
OMIM:601005 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Bradykinesia, Dementia, Cognitive impairment, Dystonia, Memory i... |
ORPHA:683 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Ethylene Glycol Poisoning |
|
Ataxia, Confusion, Hypothermia, Slurred speech, Seizure, Myoclonus |
ORPHA:31826 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, F... |
ORPHA:97355 |
Tbck-Related Intellectual Disability Syndrome |
|
Multifocal seizures, Hypothermia, EEG with generalized epileptiform discharges, Seizure, Cognitiv... |
ORPHA:488632 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hypothermia, Infantile spasms, Poor fine motor coordination, Seizure, Dementia, Mental de... |
ORPHA:79282 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Cystathioninuria |
|
Tremor, Seizure |
ORPHA:212 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Flexion contracture, Generalized lipodystrophy, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short attention span, Hypothermia, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, ... |
ORPHA:17 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Seizure, Cognitive impairment, Spasticity |
ORPHA:100 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Dystonia |
OMIM:168600 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Dy... |
OMIM:302800 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Caspase 8 Deficiency |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:607271 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Seizure, A... |
ORPHA:25 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... |
OMIM:620141 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Failure ... |
OMIM:602450 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Dysdiadochokinesis, D... |
ORPHA:247234 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res... |
ORPHA:79139 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Myoclonus, Dystonia, Mental deter... |
OMIM:168601 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure... |
OMIM:105210 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dystonia, Spasticity |
OMIM:607694 |
Neuroleptic Malignant Syndrome |
|
Fever, Extrapyramidal muscular rigidity, Oculogyric crisis, Hypothermia, Tremor, Chorea, Delirium |
ORPHA:94093 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Dementia, Oculomotor apraxia |
ORPHA:240094 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Menta... |
OMIM:614298 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Short attention span, EEG with focal spike waves, Ataxia, Generalized clon... |
OMIM:619229 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls |
OMIM:210000 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Failure to thrive, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Seizure, Lower limb hypertoni... |
ORPHA:447753 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Bradykinesia, Frontal lobe dementia, Dementia, Cognitive ... |
ORPHA:2828 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... |
ORPHA:1934 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... |
OMIM:618060 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Seizure, Mental deterioration, Memory impairment |
ORPHA:79095 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me... |
OMIM:615530 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Incoordination, Dystonia, Tremor, Typical abs... |
ORPHA:845 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:618495 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Bradykinesia, Dystonia |
OMIM:168605 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Lymphadenopathy |
ORPHA:858 |
Meige Disease |
|
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center |
ORPHA:90186 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Immunodeficiency 54 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:609981 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, C... |
ORPHA:2131 |
Leishmaniasis |
|
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy |
ORPHA:507 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Seizure, Decreased nerve conduction velocity, Vocal cord paralysis |
ORPHA:397744 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Seizure, Hypothermia |
ORPHA:159 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Attention deficit hyperactivity disorder, Hypothermia, Clumsiness |
ORPHA:90674 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Lipodystrophy, Lymphadenopathy |
OMIM:618048 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:1332 |
Encephalitis Lethargica |
|
Fever, Parkinsonism, Tremor, Seizure, Mental deterioration |
ORPHA:83600 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss, Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Immunodeficiency 7 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:615387 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Tetanus |
|
Fever, Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
Thyroid Lymphoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:142 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Seizure, Hypothermia |
OMIM:251880 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic t... |
ORPHA:2203 |
Mercury Poisoning |
|
Tremor, Seizure, Confusion, Dystonia |
ORPHA:330021 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Seizure, Dementia, Decerebra... |
ORPHA:512 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
Nephroblastoma |
|
Weight loss, Lymphadenopathy |
ORPHA:654 |
Rhabdoid Tumor |
|
Weight loss, Lymphadenopathy |
ORPHA:69077 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Weight loss, Cachexia, Lymphadenopathy |
ORPHA:83469 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Infantile spasms, Tremor, Hypsarrhythmia, Seizure, Hypertonia |
OMIM:608093 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... |
OMIM:618056 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Lymphadenopathy |
OMIM:612783 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Tremor, Seizure, Attention deficit hyperactivity disorder |
OMIM:619680 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Orthostatic Hypotension 1 |
|
Seizure, Intermittent hypothermia |
OMIM:223360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramid... |
ORPHA:646 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Failure to th... |
ORPHA:911 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Lipodystrophy, Failure to thrive in infancy, Lymphadenopathy |
OMIM:617099 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
Roifman Syndrome |
|
Hip contracture, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopathy, Panniculitis, Failure to thrive |
OMIM:617591 |
Primary Myelofibrosis |
|
Anorexia, Cachexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Weight loss, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Roifman Syndrome |
|
Hip contracture, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic d... |
OMIM:614947 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
ORPHA:26793 |
Menkes Disease |
|
Hypothermia, Chorea, Seizure, Hypertonia, Spasticity |
ORPHA:565 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Failure to thrive, Absent tonsils |
ORPHA:276 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment |
OMIM:146500 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Hypersplenism, Weight loss, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:257200 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Cyclic Neutropenia |
|
Cellulitis, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, ... |
OMIM:606002 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Felty Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Cellulitis |
ORPHA:47612 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Failure to thrive, Lymph node hypoplasia |
OMIM:613179 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Seizure, Athetosis, Hyperkinetic movements, EEG... |
OMIM:615356 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Acute Intermittent Porphyria |
|
Fever, Confusion, Tremor, Seizure, Pseudobulbar paralysis, Respiratory paralysis, Mental deterior... |
ORPHA:79276 |
Klatskin Tumor |
|
Weight loss, Lymphadenopathy |
ORPHA:99978 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... |
OMIM:234200 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture |
OMIM:620232 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Short attention span, Hypothermia, Recurrent fever, Unexplained fevers, Abnormality of peripheral... |
ORPHA:642 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Legionnaires Disease |
|
Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Cellulitis |
ORPHA:549 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy |
OMIM:603909 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Marburg Hemorrhagic Fever |
|
Fever, Confusion, Hypothermia, Atypical absence status epilepticus, Seizure |
ORPHA:99826 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Dysphagia, Lymphadenopathy |
ORPHA:100026 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Fever, Confusion, Tremor |
OMIM:274150 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Anorexia, Weight loss |
ORPHA:514 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Griscelli Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Omenn Syndrome |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
ORPHA:39041 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly, Cellulitis |
OMIM:606367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Exaggerated startle response, Involuntary movements, Hypothermia, Seizure, Myocl... |
ORPHA:438213 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Splenomegaly, Hypocalcification of dental enamel, Lymphadenopathy |
ORPHA:169090 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Lymphadenopathy, Hepatosplenomegaly, Failure to ... |
ORPHA:39812 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Weigh... |
ORPHA:97289 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Seizure, Abnormality of extrapyram... |
OMIM:612199 |
Acute Promyelocytic Leukemia |
|
Weight loss, Addictive alcohol use, Anorexia, Lymphadenopathy |
ORPHA:520 |
Omenn Syndrome |
|
Splenomegaly, Failure to thrive, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Pancreatoblastoma |
|
Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d... |
OMIM:601104 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Weight loss, Ly... |
ORPHA:160 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Weight loss, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100080 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Cinca Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Cellulitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Failure to thrive, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Lymphadenopathy |
OMIM:304790 |
Mevalonic Aciduria |
|
Failure to thrive in infancy, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Fail... |
OMIM:610377 |
Familial Pancreatic Carcinoma |
|
Weight loss, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:1333 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:233710 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Cervical lymphadenopathy, Failure to thrive, Lymphadenopathy |
OMIM:617718 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Failure to thrive, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Seizure, Hypothermia |
ORPHA:293987 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:233690 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy |
ORPHA:52417 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Failure to thrive, Lymphadenopathy |
OMIM:615895 |
Carney Triad |
|
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy |
ORPHA:139411 |
Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100082 |
Poems Syndrome |
|
Weight loss, Lipodystrophy, Lymphadenopathy |
ORPHA:2905 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph nod... |
ORPHA:50918 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Splenomegaly, Failure to thrive, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
H Syndrome |
|
Lipodystrophy, Lymphadenopathy, Hepatosplenomegaly, Hernia, Camptodactyly |
ORPHA:168569 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:809 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia |
ORPHA:226307 |
Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
Farber Disease |
|
Failure to thrive, Flexion contracture, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100086 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Splenomegaly, Cervical lymphadenopathy, Elbow flexion contracture, Lymph... |
OMIM:602782 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss, Lymphadenopathy |
ORPHA:139402 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:540 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:33226 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Weight loss, Lymphadenopathy, Enthesitis, Hepatosplenomegaly |
ORPHA:85408 |
Q Fever |
|
Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Panniculitis, Agitation, Bone marrow hypocellu... |
OMIM:615688 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Failure to thrive in infancy, Hepatosplenomegaly |
ORPHA:79124 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Failure to thrive in infancy, Splenomegaly, Lymphadenopathy, Polysplenia, Failu... |
OMIM:619418 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:306400 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:98849 |
Cherubism |
|
Macular scar, Submandibular lymph node enlargement |
OMIM:118400 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Common Variable Immunodeficiency |
|
Splenomegaly, Failure to thrive in infancy, Lymphadenopathy |
ORPHA:1572 |
Selective Igm Deficiency |
|
Lymphadenitis, Fasciitis, Cellulitis, Lymphadenopathy |
ORPHA:331235 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Lipodystrophy, Camptodactyly of finger, Splenomegaly, Adipose tiss... |
OMIM:256040 |
Sarcoidosis |
|
Fever, Hypothermia |
ORPHA:797 |
Multiple Myeloma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:29073 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:214500 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Fasciitis, Cellulitis, Lymphadenopathy |
ORPHA:32960 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Failure to thrive in infancy, Cachexia, Lymphadenopathy |
ORPHA:37042 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Panniculitis... |
ORPHA:3261 |
Hennekam Syndrome |
|
Camptodactyly of finger, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma |
ORPHA:2136 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Shagreen patch, Lymphadenopathy |
ORPHA:538 |
Immunodeficiency 31C |
|
Splenomegaly, Weight loss, Lymphadenopathy |
OMIM:614162 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Atypical scarring of ski... |
ORPHA:228123 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
Brucellosis |
|
Small for gestational age, Anorexia, Hypersplenism, Splenomegaly, Lymphadenopathy, Weight loss, F... |
ORPHA:1304 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
Ileal Neuroendocrine Tumor |
|
Weight loss, Lymphadenopathy |
ORPHA:100078 |
Behçet Disease |
|
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy |
ORPHA:117 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Dorsocervical fat pad, Anorexia, Neoplasm of the thymus, Increased body weight, Weight loss, Abno... |
ORPHA:99889 |
Chikungunya |
|
Cervical lymphadenopathy, Enthesitis, Lymphadenopathy |
ORPHA:324625 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymphadenopathy, Weight loss |
OMIM:181000 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Follicular hyperplasia, Splenomegaly, Weight loss, Lymphadenopathy |
OMIM:619381 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Familial Mediterranean Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:667 |
Crimean-Congo Hemorrhagic Fever |
|
Splenomegaly, Agitation, Anorexia, Lymphadenopathy |
ORPHA:99827 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss, Lymphadenopathy |
ORPHA:79078 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Weight loss, Lymphadenopathy |
ORPHA:449395 |
African Trypanosomiasis |
|
Aggressive behavior, Splenomegaly, Hepatosplenomegaly, Weight loss, Lymphadenopathy |
ORPHA:3385 |
Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:536 |
Blau Syndrome |
|
Splenomegaly, Camptodactyly of finger, Lymphadenopathy |
ORPHA:90340 |
Leptospirosis |
|
Anorexia, Lymphadenopathy |
ORPHA:509 |
Primary Sjögren Syndrome |
|
Lymphadenopathy |
ORPHA:289390 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy |
ORPHA:449563 |
1P36 Deletion Syndrome |
|
EEG abnormality, Seizure, Hemiplegia/hemiparesis |
ORPHA:1606 |