Gene Summary

Name:
potassium voltage-gated channel, shaker-related subfamily, beta member 2
Synonyms:
I2rf5,  F5,  Kcnb3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Kcnab2em1(IMPC)Mbp HOM Early adult 5.66×10-06
hyperactivity Kcnab2em1(IMPC)Mbp HOM Early adult 5.89×10-06
increased grip strength Kcnab2em1(IMPC)Mbp HOM Early adult 9.98×10-05
abnormal eye morphology Kcnab2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Kcnab2em1(IMPC)Mbp HOM Early adult 0.00
decreased lean body mass Kcnab2em1(IMPC)Mbp HOM Early adult 4.22×10-15
abnormal lymph node morphology Kcnab2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

72 Images

X-ray

XRay Images Whole Body Lateral Orientation

24 Images

Human diseases caused by Kcnab2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kcnab2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
1P36 Deletion Syndrome
Seizure, EEG abnormality, Hemiplegia/hemiparesis ORPHA:1606

The table below shows human diseases predicted to be associated to Kcnab2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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