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Gene: Kcna2 MGI:96659

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Gene Summary

Name:
potassium voltage-gated channel, shaker-related subfamily, member 2
Synonyms:
Kca1-2,  Mk-2,  Akr6a4,  Kv1.2

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
increased neutrophil cell number Kcna2em1(IMPC)H HET Early adult 8.31×10-09
preweaning lethality, complete penetrance Kcna2em1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Kcna2 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 Kcna2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus OMIM:616366
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, EEG ... ORPHA:442835

The table below shows human diseases predicted to be associated to Kcna2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Epilepsy, Benign Occipital
Seizure, EEG abnormality OMIM:132090
Epilepsy, Reading
Seizure, EEG abnormality OMIM:132300
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Seizures, Benign Familial Infantile, 3
Apnea, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal imp... OMIM:607745
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Benign Familial Neonatal Epilepsy
Apnea, Focal EEG discharges with secondary generalization, Simple febrile seizure, Focal-onset se... ORPHA:1949
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Apnea, Tonic seizure, EEG with focal spikes, Focal clonic seizure... ORPHA:140927
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
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
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Apnea, Multifocal epileptiform discharges, Respiratory insufficie... ORPHA:209370
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency, Seizure, EEG abnormality, Myoclonus, F... OMIM:300673
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, EEG with burst suppression,... OMIM:617290
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Seizure, Failure to thrive, Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 99
Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizur... OMIM:619606
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:615006
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Ravine Syndrome
Failure to thrive, Apnea, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst sup... OMIM:266100
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... ORPHA:157941
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges OMIM:616187
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifocal epileptiform ... ORPHA:599373
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Seizure, Apnea OMIM:615228
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclo... OMIM:616341
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Clonic seizure, Multifocal epileptiform discharges, Hypsarrhythmia, ... ORPHA:79097
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... ORPHA:725
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... OMIM:615400
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... ORPHA:276435
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity ORPHA:101075
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Pontocerebellar Hypoplasia Type 4
Central apnea, Seizure, Respiratory failure requiring assisted ventilation, Myoclonus ORPHA:166063
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Developmental And Epileptic Encephalopathy 61
Seizure, Apnea, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Phosphoserine Aminotransferase Deficiency
Seizure, Apnea, Myoclonus OMIM:610992
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypsarrhythmia OMIM:619561
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency, Tonic seizure OMIM:611722
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance ORPHA:101078
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsar... OMIM:600721
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes OMIM:614018
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Seizure, EEG abnormality, Status epilepticus, Myoclonus ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:254800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, EEG with burst suppression, Myoclonic seizure, Seizure, Res... ORPHA:168486
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Myoclonus, Atypical absence... ORPHA:2382
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... ORPHA:90117
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Myoclonic seizure, Seizure, Respiratory failure, Status epilept... OMIM:610127
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Hand tremor... ORPHA:352675
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nervous system electroph... OMIM:256731
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... OMIM:618587
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... OMIM:607682
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... ORPHA:101077
Kcnq2-Related Epileptic Encephalopathy
Epileptic spasm, Apnea, EEG with burst suppression, Hypsarrhythmia, Seizure, Generalized tonic se... ORPHA:439218
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss, Tip-toe gait, Gai... ORPHA:216866
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
2Q24 Microdeletion Syndrome
Central apnea, Seizure, Failure to thrive, Small for gestational age ORPHA:1617
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... OMIM:617665
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Apnea, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... ORPHA:280219
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Distal sensory impairment, Step... OMIM:609260
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ... ORPHA:225147
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... OMIM:617113
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Obesity, Limb dystonia OMIM:620270
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Apnea, Focal motor status epilepticus, Focal-onset seizure, EEG with burst s... OMIM:614498
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Epileptic spasm, Bilateral tonic-clonic seizure with gener... ORPHA:314655
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction... ORPHA:99014
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus OMIM:616366
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Episodic tachypnea, Apnea, Seizure, M... ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fi... ORPHA:79263
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spasticity OMIM:617810
Mitochondrial Complex I Deficiency, Nuclear Type 14
Seizure, Apnea OMIM:618236
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Apnea OMIM:614198
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Infantile spasms, Seizure, EEG abnormality, Generalize... ORPHA:3095
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Apnea, Myoclonus, Myoclonic seizure OMIM:618225
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Myoclonus, Intractable, Neonatal
Clonic seizure, Apnea, Myoclonus OMIM:617235
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... OMIM:613855
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... OMIM:180800
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Dy... OMIM:302800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... OMIM:300423
Pontocerebellar Hypoplasia, Type 6
Seizure, Failure to thrive, Generalized-onset seizure, Apnea OMIM:611523
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia, EEG abnormality, Seizure OMIM:312750
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Spastic Paraparesis And Deafness
Tremor, Short stature, Spastic paraparesis OMIM:312910
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... OMIM:118300
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hyperekplexia 3
Respiratory arrest, Apnea, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Mitochondrial Complex I Deficiency, Nuclear Type 5
Seizure, Failure to thrive, Apnea, Respiratory insufficiency OMIM:618226
Peroxisome Biogenesis Disorder 11A (Zellweger)
Seizure, Failure to thrive, Apnea OMIM:614883
Joubert Syndrome 30
Seizure, Tachypnea, Apnea OMIM:617622
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia OMIM:617106
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Infantile spasms, Respiratory insufficiency, Hypsarrhythmia, Seizure OMIM:608093
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Bilateral tonic-clonic seizure OMIM:615031
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Central hypoventilation, Apnea, Seizure, Myoclonus, Neonatal death OMIM:620167
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... OMIM:616795
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Babinski sign... ORPHA:93952
Joubert Syndrome 9
Seizure, Apnea, Episodic tachypnea OMIM:612285
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Pontocerebellar Hypoplasia Type 2
Bilateral tonic-clonic seizure with generalized onset, Apnea, Infantile spasms, Simple febrile se... ORPHA:2524
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Seizure ORPHA:320385
Hyperekplexia 1
Apnea, Seizure, Myoclonus, Aspiration, Nocturnal seizures OMIM:149400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Seizure, Status epil... OMIM:618253
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Seizure, Apnea, EEG abnormality OMIM:261680
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Apnea, Febrile status epilepticus, Tonic seizure, Seizure, Status epil... OMIM:612949
Monomelic Amyotrophy
Tremor, Fasciculations, Abnormality of peripheral nerve conduction ORPHA:65684
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, EEG ... ORPHA:442835
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Apneic episodes precipitated by illness, fatigue, stress, Seizure, Res... OMIM:312170
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Seizure, Apnea, Infantile spasms OMIM:619797
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Seizure, Apnea, Obesity, EEG with generalized slow activity OMIM:300055
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal death, Pu... OMIM:265120
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Apnea, Respiratory insufficiency OMIM:618228
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Focal EEG discharges with secondary gene... ORPHA:3077
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Slurred speech, Babinski s... ORPHA:137898
Leukodystrophy, Hypomyelinating, 4
Seizure, Apnea OMIM:612233
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Mitochondrial Complex I Deficiency, Nuclear Type 10
Seizure, Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Apnea OMIM:619048
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia OMIM:300983
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo... ORPHA:391417
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Apneic episodes in infancy OMIM:610006
Developmental And Epileptic Encephalopathy 101
Seizure, Apnea, Myoclonus OMIM:619814
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... OMIM:610921
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidity, Gait ataxia, Choreo... OMIM:618877
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Glutamine Deficiency, Congenital
Neonatal death, Seizure, Neonatal respiratory distress, Apnea OMIM:610015
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Myoclonus, Difficulty wal... ORPHA:2590
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... OMIM:615157
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619913
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Spasticity ORPHA:33445
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Impaired distal vibration sensation, Limb a... OMIM:208920
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Apnea OMIM:616277
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, EEG abnormality, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Hermansky-Pudlak Syndrome 10
EEG abnormality, Bilateral tonic-clonic seizure, Apnea, Focal myoclonic seizure OMIM:617050
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Pontocerebellar Hypoplasia, Type 16
Seizure, Apnea OMIM:619527
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hypoadrenocorticism, Familial
Seizure, Apnea OMIM:240200
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Seizure, Apnea, Hyperventilation OMIM:229700
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Seizure, Apnea ORPHA:137754
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor ORPHA:98771
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Spastic tetraparesis OMIM:619470
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, EEG with spike-wave c... ORPHA:36387
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Hyperglycinemia, Lactic Acidosis, And Seizures
Seizure, Apnea, Myoclonus, Respiratory insufficiency OMIM:614462
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Slender build OMIM:256030
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Fatal Familial Insomnia
Apnea, Myoclonus, Weight loss OMIM:600072
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Inability to wal... OMIM:312080
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Seizure, Failure to thrive, Apnea OMIM:210200
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive OMIM:619556
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
48,Xxyy Syndrome
Seizure, Asthma, Apnea, Obesity ORPHA:10
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Rigidity, ... OMIM:607483
Unilateral Polymicrogyria
Apnea, Epistaxis, Infantile spasms, Focal-onset seizure, Seizure, Status epilepticus, Myoclonus, ... ORPHA:268943
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment OMIM:607734
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Propionic Acidemia
Seizure, Failure to thrive, Tachypnea, Apnea OMIM:606054
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... ORPHA:282166
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... ORPHA:52368
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, Spasticity, EEG abnormality OMIM:618718
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Seizure, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dystonia,... OMIM:617435
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyram... ORPHA:289494
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Hypophosphatasia, Infantile
Seizure, Stillbirth, Failure to thrive, Apnea OMIM:241500
Developmental And Epileptic Encephalopathy 46
Tremor, Limb hypertonia, Failure to thrive, Hypsarrhythmia OMIM:617162
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Tremor, Dystonia OMIM:615010
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Apnea, Hyperventilation OMIM:617903
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... ORPHA:98784
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait, ... OMIM:616505
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls OMIM:159950
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Fatigable weakness OMIM:617143
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Seizure, Apnea, Large for gestational age ORPHA:79644
Joubert Syndrome 33
Apnea OMIM:617767
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Apnea, Focal-onset seizure, Generalized non-motor (absence) seizu... ORPHA:395
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Sudden episodic apnea, Intermittent episodes of respiratory in... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Sudden episodic apnea, Intermittent episodes of respiratory in... ORPHA:98914
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Bilateral tonic-clonic seizure, Hypop... OMIM:618426
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Developmental And Epileptic Encephalopathy 4
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor... OMIM:612164
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Ataxia With Vitamin E Deficiency
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... OMIM:277460
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, Myoclonic ... OMIM:619580
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Alternating Hemiplegia Of Childhood
Respiratory distress, Bilateral tonic-clonic seizure, Apnea, Focal motor seizure, Seizure, EEG ab... ORPHA:2131
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Hyperphenylalaninemia, Bh4-Deficient, B
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Tachypnea, Hypsarrhythmia, Weight loss, Seizure, EEG abnormality, Myoclonus ORPHA:20
Severe X-Linked Intellectual Disability, Gustavson Type
Seizure, Apneic episodes in infancy, Small for gestational age, Myoclonus ORPHA:3078
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... ORPHA:683
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, EEG... ORPHA:1942
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired distal vibration sensation, A... OMIM:606002
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Biotinidase Deficiency
Respiratory distress, Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Focal motor seizur... ORPHA:79241
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Infantile Neuroaxonal Dystrophy
Seizure, Apneic episodes in infancy, Abnormality of peripheral nerve conduction, Aspiration pneum... ORPHA:35069
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra... ORPHA:70594
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Seizure, Apneic episodes in infancy OMIM:618222
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Pseudo-Torch Syndrome 3
Seizure, Apnea, Respiratory insufficiency OMIM:618886
Wieacker-Wolff Syndrome
Seizure, Neonatal respiratory distress, Apnea OMIM:314580
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency, Hypsarrhythmia, Seizure, Failure to thrive ORPHA:521426
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... ORPHA:98889
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... ORPHA:363400
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Spinocerebellar Ataxia Type 13
Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Clumsiness, Titubatio... ORPHA:98768
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation ORPHA:544254
Chronic Bilirubin Encephalopathy
Central apnea, Seizure, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Seizure, Abnormal auditory evoked potentials ORPHA:529799
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... OMIM:300957
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Gaucher Disease, Type Ii
Apnea, Stridor, Seizure, Cough, Failure to thrive, Recurrent aspiration pneumonia OMIM:230900
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Joubert Syndrome
Seizure, Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG abnormality, Gait distur... ORPHA:812
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Seizure ORPHA:79330
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Riboflavin Transporter Deficiency
Tremor, Ataxia, Myoclonus, Cachexia ORPHA:97229
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Dyspnea, Episodic respiratory distress, ... ORPHA:255210
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Seizure, Decreased body weight, Neonatal death OMIM:608013
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Seizure, Apneic... ORPHA:348
Peroxisome Biogenesis Disorder 2A (Zellweger)
Seizure, Failure to thrive, Apnea OMIM:214110
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Inability to walk... OMIM:218000
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Abnormal posturing, Failure to thrive OMIM:614857
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Seizure, Respiratory failure, Focal impaired awareness seizu... OMIM:616482
Joubert Syndrome With Oculorenal Defect
Seizure, Tachypnea, Apnea ORPHA:2318
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Obesity, EEG abnormality,... ORPHA:98794
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma... OMIM:614298
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Seizure, Focal impaired awareness seizure, Apnea OMIM:618056
Joubert Syndrome With Renal Defect
Seizure, Apnea, Abnormal pattern of respiration ORPHA:220497
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Bilateral tonic-clonic seizure, Small for gestational age, Seizure, Focal impaired awarene... OMIM:617799
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypopnea, Seizure, Respiratory failure, Neonatal death, Respiratory arrest, Failure to thrive OMIM:617248
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Generalized-onset seizure, Apnea, Respiratory insufficiency, Seizure, Failure to thrive OMIM:617527
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Pontocerebellar Hypoplasia, Type 7
Seizure, Apnea, Myoclonus OMIM:614969
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, EE... OMIM:615356
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Joubert Syndrome With Ocular Defect
Seizure, Apnea, Abnormal pattern of respiration ORPHA:220493
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... OMIM:617988
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Tenorio Syndrome
Seizure, Recurrent pneumonia, Apnea OMIM:616260
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Limb hypertonia OMIM:617710
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Respiratory insufficiency, Seizure, Respiratory failure OMIM:608836
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Biotinidase Deficiency
Seizure, Tachypnea, Apnea OMIM:253260
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Decreased nerve conduction velocity, Tremor, Fasciculations, Difficulty walking, Fr... ORPHA:329478
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance ORPHA:457240
Slc39A8-Cdg
Seizure, Sudden episodic apnea, Failure to thrive in infancy, Hypsarrhythmia ORPHA:468699
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight OMIM:278760
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, EEG with burst suppression, Seizure, Pleural effusion OMIM:261740
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,... ORPHA:99956
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Myoclonus, Cardiorespiratory arrest OMIM:608643
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Narcolepsy 3
Narcolepsy OMIM:609039
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Orofaciodigital Syndrome Type 6
Seizure, Failure to thrive, Apnea, Episodic tachypnea ORPHA:2754
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Seizure, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Autosomal Recessive Spastic Paraplegia Type 77
Seizure, Sudden episodic apnea, Myoclonus ORPHA:466722
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Illum Syndrome
Apnea OMIM:208155
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Seizure, Failure to thrive, Neonatal breathing dysregulation OMIM:608091
Necrotizing Enterocolitis
Small for gestational age, Apnea ORPHA:391673
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... ORPHA:845
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... ORPHA:466768
Narcolepsy 1
Narcolepsy OMIM:161400
Joubert Syndrome With Hepatic Defect
Seizure, Apnea, Abnormal pattern of respiration ORPHA:1454
Carnitine-Acylcarnitine Translocase Deficiency
Seizure, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, EEG with focal spike waves, Ataxia, Tremor, Inability to walk, Overweight,... OMIM:619229
Pancreatic And Cerebellar Agenesis
Seizure, Failure to thrive, Apnea OMIM:609069
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, EEG with focal sharp waves, EEG abnormality, EEG with series of focal spikes, EEG ... ORPHA:522077
Genitopatellar Syndrome
Seizure, Apnea ORPHA:85201
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Seizure, Myoclonus, Failure to thrive ORPHA:17
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... ORPHA:512
Hyperlysinemia
Neck hypertonia, Failure to thrive, Poor motor coordination, Spastic tetraparesis, Tremor, Spasti... ORPHA:2203
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Fatigable weakness of skeletal muscles OMIM:617239
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure, Apnea, Respiratory insufficiency, Respiratory failure, Failure to... OMIM:252010
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Narcolepsy 7
Narcolepsy OMIM:614250
Joubert Syndrome 21
Apnea, Dyspnea, Seizure, Respiratory failure, Chronic sinusitis OMIM:615636
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Stuve-Wiedemann Syndrome 1
Seizure, Apnea, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:601559
Xp21 Deletion Syndrome
Seizure, Apneic episodes in infancy ORPHA:261476
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Tarp Syndrome
Seizure, Failure to thrive, Apnea ORPHA:2886
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Small for gestational age, Obesity, Seizure, Failure to thrive ORPHA:98754
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Marshall-Smith Syndrome
Apnea, Stridor, Aspiration pneumonia, Decreased body weight, Pulmonary arterial hypertension, Fai... OMIM:602535
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Small for gestational age, Obesity, Seizure, Failure to thrive ORPHA:98793
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Seizure, Failure to thrive, Apnea OMIM:300373
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Small for gestational age, Obesity, Seizure, Failure to thrive ORPHA:177904
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia ORPHA:25
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Small for gestational age, Obesity, Seizure, Failure to thrive ORPHA:177901
Joubert Syndrome 1
Central apnea, Hemifacial spasm, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, EEG abnormality, Gait distu... ORPHA:58
Early Infantile Epileptic Encephalopathy
Failure to thrive, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, EEG abnor... ORPHA:1934
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... ORPHA:79139
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Postnatal growth retardation,... ORPHA:90321
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Growth delay, Neonatal death, Intrauterine growth reta... OMIM:614052
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Bohring-Opitz Syndrome
Severe failure to thrive, Seizure, Apnea ORPHA:97297
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Seizure, Tracheomalacia, Tra... OMIM:114290
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Schwartz-Jampel Syndrome
Apnea, Cachexia, Respiratory insufficiency, Decreased body weight, Pulmonary arterial hypertension ORPHA:800
Shprintzen-Goldberg Syndrome
Failure to thrive, Apnea ORPHA:2462
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Failure to thrive, Ataxia OMIM:201100
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesity OMIM:614947
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Spastic diplegia, Tetraparesis, Failure to thrive OMIM:613179
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Mosaic Variegated Aneuploidy Syndrome
Seizure, Apnea ORPHA:1052
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Apnea, Pulmonary arterial hypertension... OMIM:300855
Vici Syndrome
Postnatal growth retardation, Abnormal posturing, Failure to thrive OMIM:242840
Diethylstilbestrol Syndrome
Central apnea, Small for gestational age ORPHA:1916
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Wolfram Syndrome
Central apnea, Seizure, Respiratory insufficiency ORPHA:3463
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Epileptic spasm, Apnea, Breathing dysregulation, Seizure, Myoclonus, Aspiration ... ORPHA:438213
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Abnormality... OMIM:612199
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Asthma, Seizure, EEG abnormality, Focal impaired awareness ... OMIM:619503
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Orofaciodigital Syndrome Type 2
Tachypnea, Bilateral tonic-clonic seizure, Apnea ORPHA:2751
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Semilobar Holoprosencephaly
Central apnea, Seizure, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration,... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Seizure, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Seizure, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration,... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Seizure, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration,... ORPHA:93924
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Abnormal... ORPHA:646
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Apnea ORPHA:285
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Seizure, Narcolepsy ORPHA:293987
African Trypanosomiasis
Seizure, Narcolepsy ORPHA:3385
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Pallister-Killian Syndrome
Obesity, Seizure, Stillbirth, Apneic episodes in infancy, Hyperventilation OMIM:601803

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 Kcna2

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 Kcna2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Gradual decorrelation of CA3 ensembles associated with contextual discrimination learning is impaired by Kv1.2 insufficiency. Hippocampus (December 2021) Kcna2tm1c(EUCOMM)Wtsi Kcna2tm1a(EUCOMM)Wtsi 34964210

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
Kcna2em1(IMPC)H Intra-exon deletion Mice
Kcna2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcna2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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