Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
janus kinase and microtubule interacting protein 1
Synonyms:
Gababrbp,  C330021K24Rik,  5830437M04Rik,  Marlin-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Jakmip1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Jakmip1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Spasticity, Aggressive behavior, Impaired social interactions, Slurred speech OMIM:618103
Creutzfeldt-Jakob Disease
Abnormal cerebellum morphology, Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, ... OMIM:123400
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Abulia, Mental deterioration, Abnormality of extrapyramidal motor funct... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior OMIM:618221
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Rigidity, Memory impa... ORPHA:401901
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... ORPHA:168782
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, Poor fine motor coordination, Ment... ORPHA:268947
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Poor eye contact, Self-injurious behavior, Involuntary movemen... OMIM:617820
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... OMIM:615483
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Pick Disease Of Brain
Motor stereotypy, Apathy, Diminished motivation, Emotional blunting, Disinhibition, Inappropriate... OMIM:172700
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions OMIM:606053
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... OMIM:604326
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Aggressive behavior, Paroxy... OMIM:619150
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... OMIM:300495
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Cognitive impairment, Intention tremor, Dysdiadocho... ORPHA:208513
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Memory impa... OMIM:600795
Foxg1 Syndrome
Motor stereotypy, Poor eye contact, Cognitive impairment, Inappropriate crying, Myoclonus, Hyperk... ORPHA:561854
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Myoclonus, Dysdiadochok... OMIM:256731
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Cerebellar atrophy OMIM:617862
Atypical Rett Syndrome
EEG abnormality, Poor eye contact, Inappropriate crying, Hand apraxia, Pill-rolling tremor, Panic... ORPHA:3095
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability, Frontotem... OMIM:612069
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Abnormal social behavior, Semantic dementia, Myoclonus, Parkinsonism, Memory ... ORPHA:1020
Alg13-Cdg
Clumsiness, Poor eye contact, Cognitive impairment, Hypsarrhythmia, Abnormal lateral ventricle mo... ORPHA:324422
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Depression, Babinski sign, Parkinsonism, Anxiety, Chorea... OMIM:618093
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Irritability, Dementia OMIM:606438
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Ataxia, Cerebellar vermis atrophy, Poor eye contact, Progres... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, EEG with focal epileptiform discharges, Depression, EEG with gener... ORPHA:88616
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Progressive language deterioration, Spasticity, Aggres... OMIM:610042
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality, Aggressive behavior OMIM:239500
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Progressive language deterioration, C... ORPHA:79264
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Cognitive impairment, Spastic paraparesis, Depression, Dysdiadoc... OMIM:615157
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Cortical myoclonus, EEG with spike-w... ORPHA:168491
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Self-injurious behavior, Hyperkinetic movements, Chore... OMIM:618218
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Cerebellar vermis atrophy, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Self-mutilation OMIM:614063
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Self-injurious behavior, Stereotypical hand wringing, Chorea OMIM:618760
Cdkl5-Deficiency Disorder
Poor eye contact, Stereotypical hand wringing, Multifocal epileptiform discharges, Impaired pain ... ORPHA:505652
Smith-Magenis syndrome
Motor stereotypy, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Hypsarrhythmia OMIM:617830
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Chorea,... ORPHA:66624
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Tremor, Choreoathetosis ORPHA:391417
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Poor eye contact, Hypsarrhythmia, Athetosis OMIM:618141
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity, Irritability OMIM:617393
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior OMIM:618010
Dopa-Responsive Dystonia
Agoraphobia, Poor coordination, Abnormal social behavior, Abnormality of extrapyramidal motor fun... ORPHA:255
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:608049
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Irritability, Spasticity, Hypsarrhythmia ORPHA:500545
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Cognitive impairment, Jerk-locked premy... OMIM:607876
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Mental dete... OMIM:300623
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination, Aggressive b... OMIM:309548
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... ORPHA:309271
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior ORPHA:100973
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Motor stereotypy, Cognitive impairment, Increased theta frequency activity... ORPHA:98784
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity, ... ORPHA:280763
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Happy demeanor, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Spast... OMIM:617695
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Self-injurious behavior, Stereotypical hand wringing, Chorea, Gait ataxia, Spas... OMIM:618917
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... ORPHA:309263
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Cognitive impairment, Dilated fourth ventricle, I... ORPHA:370022
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Cerebe... OMIM:604213
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior OMIM:613670
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior, Cerebellar atrophy OMIM:619690
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Anxiety, Aggressive behavior OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 73
Impulsivity, Recurrent hand flapping, Poor coordination, Gait ataxia, Irritability OMIM:619717
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pronoun reversal, Anxiety OMIM:615032
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Self-injurious behavior, Tremor, Spasticity, Paroxysmal bursts... OMIM:618718
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Poor eye contact OMIM:613886
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, EEG with spike-wa... ORPHA:64280
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Poor eye contact, Myoclonus, Hypoplasia of the pons, Hypsarrhythmia, Multifocal... ORPHA:411986
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Continuous spike and waves during slow sleep, No soci... OMIM:619428
Young-Onset Parkinson Disease
Apathy, Bradykinesia, Impulsivity, Cognitive impairment, Depression, Anxiety, Rigidity, Panic att... ORPHA:2828
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... OMIM:619317
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Christianson Syndrome
Motor stereotypy, Conspicuously happy disposition, Truncal ataxia, Aplasia/Hypoplasia of the cere... ORPHA:85278
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Cerebellar vermis hypoplasia, Gait ataxia, Sp... OMIM:617807
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Chiari type I malformation, Recurrent hand flapping, Spasticity OMIM:618859
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Recurrent hand flapping, Impulsivity, Opisthotonus, Lim... OMIM:619580
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Tremor, Cerebella... ORPHA:457240
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Disinhibition, Hyper... OMIM:607485
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Rett Syndrome, Congenital Variant
Motor stereotypy, EEG abnormality, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Ton... OMIM:613454
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
EEG abnormality, Poor eye contact, Babinski sign, Chorea, Choreoathetosis, Spasticity OMIM:618451
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Poor eye contact, Recurrent hand flapping, Self-injurious behavior, Depression,... ORPHA:449291
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Decreased nerve conduction velocity, Abnormal social behavior, Decerebrate rigidity, ... ORPHA:309256
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Impaired social interactions, Abnorma... ORPHA:544254
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Inappropriate crying, Tongue thrusting, Late... ORPHA:77299
Niemann-Pick Disease Type C
Ataxia, Cerebellar vermis atrophy, Cataplexy, Abnormal social behavior, Mental deterioration, Cho... ORPHA:646
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation OMIM:619092
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Poor eye contact, Depression, Anxiety, Rigidity, Ch... OMIM:300260
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Abnor... ORPHA:309246
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Anxiety, Spastic ataxia OMIM:618906
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional lability ORPHA:927
Xq28 (MECP2) duplication
Motor stereotypy, Depression, Anxiety, Progressive spasticity, Gait ataxia DECIPHER:45
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Poor eye contact, EEG with spike-wave complexes, Self-... ORPHA:522077
Galloway-Mowat Syndrome 6
Motor stereotypy, Cerebellar vermis atrophy, Cerebellar atrophy, Paroxysmal bursts of laughter OMIM:618347
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, EEG abnormality, Recurrent hand flapping OMIM:617268
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... OMIM:300912
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Spastic diplegia, Abnormal cerebellar vermis morphology, Cerebella... ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Self-mutilation, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Gait atax... OMIM:300486
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Anxiety, Tremor, Shyness, Spasticity, Aggressive behavior OMIM:300978
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Stereotypical hand wringing, Incoordination, Inappropri... OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Conspicuously happy disposition, Recurrent hand flapping, S... OMIM:300986
4Q21 Microdeletion Syndrome
Motor stereotypy, Self-injurious behavior, Cerebellar hypoplasia, Tremor, Agenesis of corpus call... ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Anxiety, Chorea OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Aggressive behavior OMIM:615541
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Abnormal pyramidal sign, Nonprogre... ORPHA:314647
Fragile X Syndrome
Poor eye contact, Recurrent hand flapping, Self-biting OMIM:300624
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior ORPHA:352490
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Impulsivity, Cerebellar hypoplasia, Chorea, Athetosis, Aggressive behav... OMIM:619435
Rett Syndrome
EEG abnormality, Gait apraxia, Truncal ataxia, Stereotypical hand wringing, Motor deterioration, ... OMIM:312750
Choreoacanthocytosis
Mental deterioration, Chorea, Emotional lability, Slurred speech, Hypertonia, Bradyphrenia, Self-... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 51
Hand-leading gestures, Tics, Aggressive behavior, Recurrent hand flapping OMIM:617788
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior, EEG with generalized slow activity ORPHA:397612
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, EEG abnormality, Self-mutilation, Impaired pain sensation OMIM:182290
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar v... OMIM:617751
Potocki-Lupski Syndrome
Motor stereotypy, EEG abnormality, Poor eye contact OMIM:610883
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rigidity, ... ORPHA:217253
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Ataxia, EEG abnormality, Recurrent hand flapping, Myoclonus, Tongue thrusting, EE... ORPHA:98794
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Lateral ventricle dilatation, Spasticity, Spastic tetr... ORPHA:208447
Distal Xq28 Microduplication Syndrome
Poor eye contact, Impulsivity, Stereotypical body rocking, Depression, Anxiety, Self-biting, Aggr... ORPHA:293939
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Motor stereotypy, Hypoplasia of the pons, Chiari malformation, Low frustration ... OMIM:619293
Cri-Du-Chat Syndrome
Overfriendliness, Hypertonia, Motor stereotypy, Conspicuously happy disposition, Self-mutilation,... OMIM:123450
Radio-Tartaglia Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Impulsivity, Tremor, Aggressive behavior, Agenesis of... OMIM:619312
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Motor stereotypy, Ataxia, Dilated fourth ventricle, Cereb... OMIM:610688
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Chorea, Lateral ventricle dilatation, Spasticity, Eyel... ORPHA:178469
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Oculomotor apraxia,... OMIM:615960
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Abnormal nonverbal communicative behavior, ... ORPHA:485421
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Eye poking OMIM:204100
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor ORPHA:10
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Ataxia, EEG abnormality, Recurrent hand flapping, Tongue thrusting, Inappropriate... ORPHA:411511
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping, Hypsarrhythmia OMIM:618916
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Motor stereotypy, Gait ataxia, Incoordination, Impaired pain sensation OMIM:616579
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, EEG abnormality, Spastic paraparesis, Incoordination, Aggressive behavi... ORPHA:369891
Luscan-Lumish Syndrome
Anxiety, Shyness, Chiari malformation, Aggressive behavior, Slurred speech OMIM:616831
Angelman Syndrome
Happy demeanor, Ataxia, EEG abnormality, Poor eye contact, Recurrent hand flapping, Self-injuriou... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity, Aggressive behavior OMIM:618825
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, EEG abnormality, Poor eye contact, EEG with frontal sharp slow waves, Self-inju... ORPHA:457351
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
EEG abnormality, Anxiety, Oromotor apraxia, Spasticity, Repetitive compulsive behavior ORPHA:391372
Shukla-Vernon Syndrome
Motor stereotypy, Cerebellar atrophy OMIM:301029
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Anxiety, Self-injurious behavior, Aggressive behavior ORPHA:313892
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Tremor, Aggressive behavior OMIM:618342
Coffin-Siris Syndrome 6
Motor stereotypy, Anxiety, Tics OMIM:617808
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Hypsarrhythmia OMIM:619877
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Shyness OMIM:300801
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Aggressive behavior, Self-mutilation OMIM:615516
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, EEG with multifocal slow activity, Stereotypical hand wringing ORPHA:289266
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Spastic tetraplegia, Scissor gait, Ag... OMIM:619121
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Chiari type I malformat... ORPHA:261197
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Poor eye contact, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity OMIM:300672
Alazami Syndrome
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation ORPHA:319671
Snijders Blok-Campeau Syndrome
Motor stereotypy, Speech apraxia OMIM:618205
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping, Inferior cerebellar vermis hypoplasia OMIM:613192
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Self-injurious behavior, Impulsivity, Cerebral palsy, Aggressive be... OMIM:618914
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Agenesis of cerebellar vermis ORPHA:228384
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Tremor, Abnormal aggressive, impulsive or violent behavior, Ir... ORPHA:96263
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Speech apraxia, Spasticity, Aggressive behavior, Impaired social in... OMIM:300352
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Poor eye contact, Recurrent hand flapping, Self-injurious behavior, Anxiety, Cerebellar v... OMIM:156200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Cerebellar atrophy, Interictal epileptiform activity OMIM:617802
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Self-injurious behavior OMIM:617044
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Head-banging, Dysplastic corpus callosum, Partial agenesis of the corpus callos... OMIM:619103
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Cerebellar hypoplasia, Cerebellar dysplasia ORPHA:500159
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Aggressive behavior, Self-biting ORPHA:3306
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, EEG abnormality, EEG with focal spike waves, Upper limb spasticity, Myo... OMIM:619229
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Cerebellar vermis hypoplasia, Spasticity, Inappropri... OMIM:615802
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Tics, Spasticity, Hypsarrhythmia, Emotional lability, Impaired social i... OMIM:619475
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Self-injurious behavior, Anxiety, Impaired pain sensation ORPHA:819
Phelan-Mcdermid Syndrome
Motor stereotypy, Poor eye contact, Tongue thrusting, Aggressive behavior, Impaired pain sensatio... OMIM:606232
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Aggressive behavior, Irritability ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Pain insensitivity, Self-injurious behavior, Tremor, Aggressive behavior OMIM:617061
White-Sutton Syndrome
Overfriendliness, Motor stereotypy, Self-injurious behavior, Anxiety, Tics, Aggressive behavior, ... OMIM:616364
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping OMIM:620021
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Irritability, Myoclonic spasms, Hypsarrhythmia, Clonus, Lower limb ... ORPHA:447997
47,Xyy Syndrome
Impulsivity, Impaired social interactions, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis ORPHA:8
Coffin-Siris Syndrome 7
Motor stereotypy, Chiari type I malformation OMIM:618027
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Lateral ventricle dilatation, Aggressive behavior, Low frustration tole... ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Anxiety, Irritability OMIM:617796
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Poor eye contact, Impulsivity, Unilateral vocal cord paralysis, Spasticity, Shy... OMIM:301030
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, EEG abnormality, Abnormal social behavior, Abnormal aggressive, impulsive or violent ... ORPHA:1675
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Cerebellar atrophy, Fasc... ORPHA:496641
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Lateral ventri... ORPHA:177907
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Agenesis of corpus callosum OMIM:613174
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Aggressive behavior OMIM:619680
Rett Syndrome
Motor stereotypy, EEG abnormality, Bradykinesia, Stereotypical hand wringing, Limb apraxia ORPHA:778
White-Sutton Syndrome
Motor stereotypy, EEG abnormality, Self-injurious behavior, Hypoplasia of the pons, Aggressive be... ORPHA:468678
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia OMIM:607625
49,Xxxxy Syndrome
Overfriendliness, Tremor, Shyness, Irritability, Low frustration tolerance ORPHA:96264
D-Glyceric Aciduria
Opisthotonus, Myoclonus, Tongue thrusting, Spastic tetraplegia, Spasticity, Hypsarrhythmia OMIM:220120
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia, EEG abnormality ORPHA:2479
Pyruvate Carboxylase Deficiency
Ataxia, Apathy, Recurrent hand flapping, Poor eye contact, Cerebellar gliosis, Abnormal pyramidal... ORPHA:3008
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing OMIM:619854
7Q11.23 Microduplication Syndrome
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Cerebellar hypoplasia, Aggressive ... ORPHA:96121
Bilateral Perisylvian Polymicrogyria
Paraparesis, EEG with frontal focal spikes, Pseudobulbar paralysis, EEG with parietal focal spike... ORPHA:98889
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
22Q11.2 Duplication Syndrome
Motor stereotypy, Anxiety ORPHA:1727
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, EEG abnormality, Tongue thrusting ORPHA:98795
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Agoraphobia, Social and occupational deterioration, EEG abnormality, Impulsivit... ORPHA:353281
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Self-mutilation, Tremor, Gait ataxia, Aggressive behavior ORPHA:476126
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Self-injurious behavior, Abnormal pyramidal sign, Hypoplasia of the... ORPHA:468631
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Agenesis of corpus callosum ORPHA:261144
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Elongated superior cerebellar peduncle, Motor stereotypy, Self-injurious behavior, Anxiety, Hypop... OMIM:619512
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Self-injurious behavior, Recurrent hand flapping, Inferior cerebell... OMIM:615485
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Fg Syndrome Type 1
Abnormal cerebellum morphology, Abnormal social behavior ORPHA:93932
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia ORPHA:435638
Kleefstra Syndrome 1
Motor stereotypy, Apathy, Aggressive behavior OMIM:610253
Rauch-Steindl Syndrome
Motor stereotypy, Anxiety, Aggressive behavior OMIM:619695
Mend Syndrome
Abnormal social behavior, Limb hypertonia, Aggressive behavior, Abnormal auditory evoked potentia... ORPHA:401973
Wiedemann-Steiner Syndrome
Motor stereotypy, Anxiety, Psychomotor deterioration, Aggressive behavior, Low frustration tolerance ORPHA:319182
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive behavior, Agenesis of corp... ORPHA:261494
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy OMIM:618504
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Aggressive behavior, Self-mutilation OMIM:212066
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363958
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy OMIM:616351
Trichothiodystrophy
Hypertonia, Diffuse cerebellar atrophy, Impaired social reciprocity, Intention tremor, Paraplegia... ORPHA:33364
Tuberous Sclerosis Complex
Self-injurious behavior, Impulsivity, Abnormal social behavior, Depression, Anxiety, Aggressive b... ORPHA:805
Dpagt1-Cdg
Hypertonia, Abnormal cerebellum morphology, Ataxia, Head-banging, Stereotypical body rocking, Cer... ORPHA:86309
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Impaired pain sensation, EEG abnormality, Self-mutilation OMIM:619005
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Pain insensitivity, Dysmetria, Truncal ataxia, Cerebellar vermis hypopl... OMIM:617330
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior OMIM:610954
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Agoraphobia, Social and occupational deterioration, EEG abnormality, Impulsivit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Agoraphobia, Social and occupational deterioration, EEG abnormality, Impulsivit... ORPHA:353277
Bainbridge-Ropers Syndrome
Hypertonia, Cerebellar vermis hypoplasia, Recurrent hand flapping ORPHA:352577
Cystinosis
Motor stereotypy, Abnormal pyramidal sign ORPHA:213
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Stereotypical body rocking, Inappropriate crying, Tongue thrusting, Agen... ORPHA:261323
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia OMIM:619777
Optic Atrophy-Intellectual Disability Syndrome
Spasticity, Repetitive compulsive behavior ORPHA:401777
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Dysplastic corpus callosum, Stereotypical hand wringing OMIM:619179
1P21.3 Microdeletion Syndrome
Aggressive behavior, Self-injurious behavior, Shyness, Self-mutilation ORPHA:293948
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy OMIM:615873
Dilated Cardiomyopathy With Ataxia
Action tremor, Ataxia, Lower limb spasticity, Repetitive compulsive behavior ORPHA:66634
Mucopolysaccharidosis Type 2
Motor stereotypy, Impulsivity, Decreased nerve conduction velocity, Cognitive impairment, Mental ... ORPHA:580
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Dysplastic corpus callosum, Pseudobulbar paralysis, Intention tremor, Anxiety, Cerebellar... ORPHA:466791
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, No social interaction, Opisthotonus ORPHA:508533
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, EEG with parietal focal spikes, Aggressive behavior, EEG with occipital focal s... OMIM:301066
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Chiari type I malformation, Head-banging, Self-injurious behavior OMIM:619575
Transketolase Deficiency
Motor stereotypy, Self-injurious behavior ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum, Stereotypical hand wringing OMIM:612337
2Q37 Microdeletion Syndrome
Motor stereotypy ORPHA:1001
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, EEG abnormality, Poor eye contact, Hypsarrhythmia, Spastic tetrapar... OMIM:301044
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Ataxia, Poor gross motor coordination, Hand tremor, Dysmetria, Cerebellar hypop... OMIM:614756
Orofaciodigital Syndrome V
Overfriendliness, Agenesis of corpus callosum OMIM:174300
Trichotillomania
Hair-pulling OMIM:613229
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Motor stereotypy, Dandy-Walker malformation OMIM:619297
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity OMIM:301040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Stereotypical body rocking, Cerebellar hypoplasia, Gait ataxia, Repetitive comp... ORPHA:513456
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Impulsivity, Self-mutilation, Spastic diplegia, Cerebral palsy, Limb hypertonia, Stereoty... OMIM:619950
Norrie Disease
Motor stereotypy, Hypertonia, EEG abnormality, Self-injurious behavior, Anxiety, Aplasia/Hypoplas... ORPHA:649
Cardiofaciocutaneous Syndrome 1
Hypertonia, Tongue thrusting, Oculomotor apraxia OMIM:115150
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Anxiety ORPHA:464311
Williams Syndrome
Overfriendliness, Ataxia, Dysmetria, Abnormal social behavior, Depression, Anxiety, Tremor, Invol... ORPHA:904
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, EEG abnormality, Self-injurious behavior, Depression, Anxiety, Clonus ORPHA:534
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Anxiety ORPHA:464306
Mgat2-Cdg
Stereotypical hand wringing, Hypsarrhythmia ORPHA:79329
Monosomy 22Q13.3
Impaired pain sensation, Agenesis of corpus callosum, Cerebellar cortical atrophy, Hair-pulling ORPHA:48652
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Agenesis of corpus callosum ORPHA:508498
Mowat-Wilson Syndrome
Motor stereotypy, Happy demeanor, Ataxia, EEG with spike-wave complexes, Anxiety, Agenesis of cer... ORPHA:2152
1P36 Deletion Syndrome
Motor stereotypy, EEG abnormality, Self-injurious behavior, Hemiplegia/hemiparesis, Agenesis of c... ORPHA:1606
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Irritability OMIM:300855
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Hemiparesis, Tongue thrusting ORPHA:369950
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Ataxia, Anxiety, Stereotypical hand wringing, Aggressive behavior ORPHA:268261
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Happy demeanor, EEG abnormality, Poor fine motor coordination, Cerebellar hypop... ORPHA:261537
Arboleda-Tham Syndrome
Motor stereotypy, Lower limb hypertonia OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Spastic diplegia, Poor coordination OMIM:309590
Coffin-Siris Syndrome 12
Motor stereotypy, Chiari malformation, Enlarged cerebellum OMIM:619325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Happy demeanor, EEG abnormality, Poor fine motor coordination, Cerebellar hypop... ORPHA:261552
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Wolf-Hirschhorn Syndrome
Motor stereotypy, EEG abnormality, Agenesis of corpus callosum OMIM:194190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Turner Syndrome Due To Structural X Chromosome Anomalies
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:99413
Turner Syndrome
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:881
Mosaic Monosomy X
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:99228
Monosomy X
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:99226
Primrose Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Anxiety, Tics, Aggressive behavior OMIM:259050
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aggressive behavior OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Exaggerated startle response OMIM:619522
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
EEG abnormality, Impulsivity, Stereotypical body rocking, Low frustration tolerance OMIM:619503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Myoclonus, Involuntary movements, Stereotypical hand wringing, Exaggerated startle response ORPHA:438213

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 Jakmip1

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 Jakmip1.

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

Title Journal IMPC Allele PubMed ID
JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse. Neuron (November 2015) Jakmip1tm1(KOMP)Vlcg PMC4829343

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MGI Allele Allele Type Produced
Jakmip1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Jakmip1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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