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Gene: Kcnab2 MGI:109239

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal lymph node morphology Kcnab2em1(IMPC)Mbp HOM Early adult 0.00
increased grip strength Kcnab2em1(IMPC)Mbp HOM Early adult 9.98×10-05
enlarged lymph nodes Kcnab2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Kcnab2em1(IMPC)Mbp HOM Early adult 0.00
decreased lean body mass Kcnab2em1(IMPC)Mbp HOM Early adult 4.22×10-15
hyperactivity Kcnab2em1(IMPC)Mbp HOM Early adult 7.35×10-06
increased total body fat amount Kcnab2em1(IMPC)Mbp HOM Early adult 5.66×10-06

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

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X-ray

XRay Images Whole Body Lateral Orientation

24 Images

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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
EEG abnormality, Seizure, 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
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kcnab2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kcnab2.

No publications found that use IMPC mice or data for Kcnab2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kcnab2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcnab2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Kcnab2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kcnab2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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