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Gene: Camk2a MGI:88256

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

calcium/calmodulin-dependent protein kinase II alpha

Synonyms:

alpha-CaMKII

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Camk2a 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.

Human diseases associated with Camk2a (2 diseases)
Human diseases predicted to be associated with Camk2a (362 diseases)

The table below shows human diseases associated to Camk2a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Recessive 63		Myoclonic seizure	OMIM:618095
Intellectual Developmental Disorder, Autosomal Dominant 53		Irritability, Unsteady gait	OMIM:617798

The table below shows human diseases predicted to be associated to Camk2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizophrenia 15	Hyperactivity	OMIM:613950
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Specific Language Impairment 2	Deficit in phonologic short-term memory	OMIM:606712
Specific Language Impairment 1	Deficit in phonologic short-term memory	OMIM:606711
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Major Affective Disorder 1	Mania, Depression	OMIM:125480
Major Depressive Disorder	Depression	OMIM:608516
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Alzheimer Disease 10	Memory impairment, Dementia	OMIM:609636
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Schizophrenia 19	Cognitive impairment	OMIM:617629
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Familial Alzheimer-Like Prion Disease	Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype...	ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social...	OMIM:608636
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Obsessive-Compulsive Disorder	Collectionism, Compulsive behaviors, Skin-picking, Depression	OMIM:164230
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se...	OMIM:619970
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 64	Impaired social interactions, Aggressive behavior	OMIM:618103
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Pick Disease Of Brain	Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion...	OMIM:172700
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv...	ORPHA:101039
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ...	OMIM:617113
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner...	OMIM:614063
Isolated Focal Cortical Dysplasia	Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei...	ORPHA:65683
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure	OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w...	OMIM:301008
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d...	ORPHA:2382
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Hyperactivity, Irritability	OMIM:616657
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition...	OMIM:600795
Epilepsy, Progressive Myoclonic, 12	Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment...	OMIM:619191
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner...	OMIM:612069
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms	OMIM:619150
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilat...	ORPHA:98818
Frontotemporal Dementia	Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri...	OMIM:600274
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social inter...	OMIM:617820
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing	ORPHA:397933
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Stxbp1-Related Encephalopathy	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	ORPHA:599373
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno...	ORPHA:1020
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Self-injurious behav...	ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia	OMIM:609425
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior	OMIM:620270
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior	OMIM:248510
Hsd10 Disease	Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior	ORPHA:391417
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls...	ORPHA:444002
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Impaired social interactions, Co...	ORPHA:561854
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Seizure, Hyperactivity, Myoclonus	OMIM:615924
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ...	ORPHA:248111
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh...	ORPHA:449291
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis...	OMIM:261600
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Impaired social interactions, Aggressive behavior	ORPHA:329249
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Bruxism	OMIM:300434
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Gand Syndrome	Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc...	OMIM:271980
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior	OMIM:300983
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv...	OMIM:618917
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware...	OMIM:620292
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors	OMIM:619467
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive...	OMIM:604317
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors	OMIM:620021
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:300558
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition...	OMIM:607485
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ...	OMIM:614104
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Abnormal repetitive mannerisms, Difficulty walking, Shyness	ORPHA:280763
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox...	ORPHA:228402
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti...	OMIM:619580
Atypical Rett Syndrome	Restrictive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Gait disturbance, Agitati...	ORPHA:3095
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Aggressive behavior, Depression, Impaired social interactions, Dysphagia	OMIM:619738
Xq28 (MECP2) duplication	Inability to walk, Depression, Gait ataxia, Dysphagia, Abnormal repetitive mannerisms	DECIPHER:45
Intellectual Developmental Disorder, Autosomal Recessive 74	Hyperactivity	OMIM:617169
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Typical ...	ORPHA:168491
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic...	OMIM:617600
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o...	ORPHA:79264
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D...	ORPHA:98784
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized...	ORPHA:485350
Young-Onset Parkinson Disease	Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag...	ORPHA:2828
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Abnormal neu...	ORPHA:163681
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile...	OMIM:619913
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Ataxia, Aggressive behavior, Gait apraxia, Dysmetria, Gait ataxia, Limb ataxia, Depression, Dysdi...	OMIM:615157
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Christianson Syndrome	Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms	ORPHA:85278
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Depression, Abnormal synaptic transmission, Dementia, Falls, Cognitiv...	ORPHA:683
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne...	ORPHA:927
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor tics, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia	OMIM:619725
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Att...	OMIM:617854
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Impaired social interactions, Aggressive behavior	OMIM:616083
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior	ORPHA:457260
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t...	ORPHA:98794
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus	OMIM:618314
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma...	OMIM:600430
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Developmental And Epileptic Encephalopathy 6B	Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia	OMIM:619317
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ...	ORPHA:43
Myoclonic-Astatic Epilepsy	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Simple feb...	ORPHA:1942
Fragile X Syndrome	Hyperactivity, Recurrent hand flapping, Self-biting	OMIM:300624
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Gait disturbance, Depression	ORPHA:457240
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity	OMIM:300143
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
X-Linked Intellectual Disability, Van Esch Type	Impaired social interactions, Attention deficit hyperactivity disorder	ORPHA:163976
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai...	ORPHA:35069
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Seizure, Hyperactivity, Infantile spasms, Tonic seizure	OMIM:619239
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att...	OMIM:300986
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Diminished ability to concentrate, Impaired social interactions, Compulsive behaviors, At...	OMIM:615656
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms, Ataxia, Gait ataxia	OMIM:619092
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod...	OMIM:617865
Histidinemia	Hyperactivity	ORPHA:2157
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Imp...	OMIM:300912
Rett Syndrome, Congenital Variant	Tongue thrusting, Athetosis, Irritability, Impaired social interactions, Bruxism, Abnormal repeti...	OMIM:613454
Cri-Du-Chat Syndrome	Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive...	OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil...	OMIM:300486
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Inability to walk, Repetitive compulsive behavior, Dysphagia, Depression, Hostility, Brux...	OMIM:300260
Mucopolysaccharidosis, Type Iiib	Seizure, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior	OMIM:252920
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:618430
Wagro Syndrome	Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Impaired social ...	OMIM:612469
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys...	OMIM:610217
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Abnormal repetitive mannerisms	OMIM:619877
Insulin-Like Growth Factor I Deficiency	Short attention span, Hyperactivity	OMIM:608747
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder...	OMIM:300352
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms	OMIM:617796
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Metachromatic Leukodystrophy, Adult Form	Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr...	ORPHA:309271
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Inappropriate laughter, Self-...	OMIM:103050
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
48,Xxyy Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia, Depression	ORPHA:10
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia	OMIM:617807
47,Xyy Syndrome	Hyperactivity, Impaired social interactions, Impulsivity, Attention deficit hyperactivity disorder	ORPHA:8
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord...	OMIM:619293
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Developmental And Epileptic Encephalopathy 64	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Intellectual Developmental Disorder, Autosomal Recessive 63	Myoclonic seizure	OMIM:618095
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur...	ORPHA:139396
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior	ORPHA:309256
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Rett Syndrome	Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism...	ORPHA:778
48,Xxxy Syndrome	Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres...	ORPHA:96263
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l...	ORPHA:309263
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Overfriendliness, Abnormal repetitive mannerisms, Gait ataxia	OMIM:616579
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Proximal 16P11.2 Microdeletion Syndrome	Choreoathetosis, Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit ...	ORPHA:261197
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Irritabili...	ORPHA:247585
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:619435
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde...	OMIM:619312
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
X-Linked Creatine Transporter Deficiency	Athetosis, Hyperactivity, Ataxia, Self-mutilation	ORPHA:52503
White-Sutton Syndrome	Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, A...	OMIM:616364
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i...	ORPHA:314647
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia	OMIM:619428
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Inability to walk, Delayed early-childhood social milestone...	ORPHA:300570
Argininemia	Irritability, Hyperactivity, Spastic gait, Anorexia	OMIM:207800
Fg Syndrome Type 1	Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity...	ORPHA:93932
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,...	ORPHA:476126
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Niemann-Pick Disease Type C	Ataxia, Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depressi...	ORPHA:646
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:457279
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Impaired social interacti...	OMIM:606232
Smith-Magenis Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:819
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Shyness, Aggressive behavior, Self-injurious behavior, Self-mutilation	ORPHA:293948
Cystinosis	Polydipsia, Abnormal repetitive mannerisms, Gait disturbance	ORPHA:213
Insensitivity To Pain, Congenital, With Anhidrosis	Emotional lability, Hyperactivity, Self-mutilation	OMIM:256800
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia	ORPHA:435638
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb...	OMIM:234200
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self...	ORPHA:805
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Niemann-Pick Disease, Type C2	Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso...	OMIM:619575
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat...	ORPHA:319182
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive manner...	OMIM:619229
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Choreoacanthocytosis	Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica...	OMIM:212066
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation	ORPHA:99819
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness	OMIM:301030
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ...	OMIM:619475
Nmda Receptor Encephalitis	Short attention span, Confusion, Hypersexuality, Depression, Choreoathetosis, Agitation, Memory i...	ORPHA:217253
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation	ORPHA:424
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj...	ORPHA:96121
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol...	ORPHA:1675
Mend Syndrome	Hyperactivity, Abnormal social behavior, Aggressive behavior	ORPHA:401973
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri...	ORPHA:522077
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:619005
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det...	ORPHA:580
Bainbridge-Ropers Syndrome	Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:615485
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Ataxia, Dysphagia	ORPHA:496641
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Compulsive behaviors, Dysph...	OMIM:615873
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha...	OMIM:620330
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abnormal repetitive ...	OMIM:617330
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf...	ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Gait disturbance	ORPHA:464311
Developmental And Epileptic Encephalopathy 100	Choreoathetosis, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia	OMIM:619777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms	OMIM:301040
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Gait disturbance	ORPHA:464306
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:508533
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Abnorm...	ORPHA:513456
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms, Difficulty walking	OMIM:618653
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Oculocerebrorenal Syndrome Of Lowe	Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord...	ORPHA:534
Trichothiodystrophy	Reduced social reciprocity, Gait ataxia	ORPHA:33364
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Williams Syndrome	Ataxia, Dysmetria, Depression, Gait disturbance, Gait imbalance, Attention deficit hyperactivity ...	ORPHA:904
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Ogden Syndrome	Irritability, Abnormal repetitive mannerisms, Dysphagia	OMIM:300855
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Gait imbalance, Dysphagia	OMIM:616268
Norrie Disease	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:649
1P36 Deletion Syndrome	Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abnormal repetitive mannerisms	ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Primrose Syndrome	Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyper...	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522
Intellectual Developmental Disorder, Autosomal Dominant 53	Irritability, Unsteady gait	OMIM:617798
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Coffin-Siris Syndrome 12	Abnormal repetitive mannerisms	OMIM:619325
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms	OMIM:194190
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Inability to walk, Bruxism, Impaired social interactions, Dysphagia, Ab...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	ORPHA:261552

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 Camk2a

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 Camk2a.

No publications found that use IMPC mice or data for Camk2a.

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
Camk2a^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Camk2a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Camk2a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Camk2a^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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