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Gene: Cbarp MGI:1354170

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Gene Summary

Name:
calcium channel, voltage-dependent, beta subunit associated regulatory protein
Synonyms:
Dos,  R29144/1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased anxiety-related response Cbarptm2e.1(EUCOMM)Hmgu HOM Early adult 9.31×10-05
increased thigmotaxis Cbarptm2e.1(EUCOMM)Hmgu HOM   Early adult 8.83×10-05
abnormal behavior Cbarptm2e.1(EUCOMM)Hmgu HOM   Early adult 8.83×10-05
decreased vertical activity Cbarptm2e.1(EUCOMM)Hmgu HOM   Early adult 6.07×10-07
decreased body length Cbarptm2e.1(EUCOMM)Hmgu HOM Early adult 7.92×10-06
decreased exploration in new environment Cbarptm2e.1(EUCOMM)Hmgu HOM Early adult 4.66×10-07
decreased locomotor activity Cbarptm2e.1(EUCOMM)Hmgu HOM Early adult 2.87×10-06
abnormal eye anterior chamber depth Cbarptm2e.1(EUCOMM)Hmgu HOM Early adult 8.74×10-08
abnormal bone structure Cbarptm2e.1(EUCOMM)Hmgu HOM   Early adult 2.47×10-05
decreased bone mineral content Cbarptm2e.1(EUCOMM)Hmgu HOM   Early adult 3.37×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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Human diseases caused by Cbarp 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 Cbarp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
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
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, 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
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn... OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions, Aggressive behavior OMIM:618103
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Tremor, Depression, Inappropriate behavior, Cognitive impairment, Dystonia, Memory impair... ORPHA:401901
Pick Disease Of Brain
Abnormal repetitive mannerisms, Frontotemporal dementia, Irritability, Disinhibition, Inappropria... OMIM:172700
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitiv... OMIM:619150
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe... OMIM:617820
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Hsd10 Disease
Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci... ORPHA:391417
Foxg1 Syndrome
Dystonia, Inability to walk, Choreoathetosis, Impaired social interactions, Bruxism, Difficulty w... ORPHA:561854
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
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
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions OMIM:611092
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Shyness, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms ORPHA:280763
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions ORPHA:397933
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Dysmetria, Depressio... OMIM:615157
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Ataxia, Impaired social interactions, Intention tremor ORPHA:137831
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Spinocerebellar Ataxia Type 29
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... ORPHA:208513
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Tremor, Inability to walk, Tongue thrusting, Gait ataxia, Pill-ro... ORPHA:3095
Young-Onset Parkinson Disease
Restless legs, Short attention span, Dystonia, Impulsivity, Tremor, Depression, Bradykinesia, Fro... ORPHA:2828
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... ORPHA:101039
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi... OMIM:619738
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Bruxism, Bradykinesia, Agitation, Dysphagia, Abnormal repetitive... OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... OMIM:614104
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... OMIM:617695
Christianson Syndrome
Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe... ORPHA:85278
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Failure to thrive, Abnorm... ORPHA:927
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... OMIM:618218
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior ORPHA:329249
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bradykinesia, Attention deficit hyperactivity disorder, Dystonia, Abnorma... OMIM:619725
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to... OMIM:617854
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
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... ORPHA:449291
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Tremor, Gait disturbance, Impaired social interactions, Recurre... ORPHA:544254
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal... OMIM:618917
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Dysphagia, Failure to thrive, Abnormal repetitive man... DECIPHER:45
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... OMIM:618342
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... ORPHA:98794
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... ORPHA:309263
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Dystonia, Aggressive behavior, Gait disturbance, Attention deficit hyperactivit... OMIM:300352
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:352490
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Depression, Blepharospasm, Li... ORPHA:93958
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... ORPHA:411511
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Impaired social interactions, Att... ORPHA:1942
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Failure to t... OMIM:617864
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Rett Syndrome
Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, Dystonia, Failu... ORPHA:778
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms OMIM:619317
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Cognitive impairment, Attention deficit hyperactivity disorder, ... ORPHA:98784
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Impaired social int... ORPHA:261197
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Failure to thrive, Impaired social interactions ORPHA:163976
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty w... OMIM:123450
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive b... OMIM:615656
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitiv... ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent... OMIM:300986
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... ORPHA:309256
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... OMIM:300912
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Motor deterioration, Ster... OMIM:312750
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Rett Syndrome, Congenital Variant
Dystonia, Tongue thrusting, Irritability, Athetosis, Impaired social interactions, Bruxism, Abnor... OMIM:613454
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Repetitive compulsive behavior, Inability to walk, Dysphagia, Depression, Hostility, Brux... OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
48,Xxxy Syndrome
Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior... ORPHA:96263
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... ORPHA:314647
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Niemann-Pick Disease Type C
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive... ORPHA:646
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repe... OMIM:618004
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive mannerisms OMIM:617807
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... OMIM:600430
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... ORPHA:845
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... OMIM:182290
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Torticollis, Inability to walk, Delayed early-childhood soc... ORPHA:300570
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype... OMIM:619312
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... OMIM:610883
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire... OMIM:612469
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... ORPHA:208447
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Choreoacanthocytosis
Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dyston... ORPHA:2388
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... OMIM:619293
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... OMIM:617796
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Fg Syndrome Type 1
Broad-based gait, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social... ORPHA:93932
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:476126
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Irritability, Self-injurious behavior... OMIM:616364
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Overweight, Inability to walk, Tremor, Obesity, Agitation, Dysphagi... OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia, Head tremor OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention ... OMIM:617061
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Self-injurious behavior, Gait disturbance, Attention defic... ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... OMIM:300486
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms OMIM:619435
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem... OMIM:619475
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Tongue thrusting, Unsteady gait, Impaired social interacti... OMIM:606232
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired s... ORPHA:177907
Cystinosis
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Nmda Receptor Encephalitis
Short attention span, Confusion, Oculogyric crisis, Hypersexuality, Depression, Choreoathetosis, ... ORPHA:217253
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Niemann-Pick Disease, Type C2
Ataxia, Dysphagia, Dementia, Dystonia, Abnormal repetitive mannerisms OMIM:607625
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be... OMIM:613174
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Shyness, Obesity, Self-injurious behavior, Self-mu... ORPHA:293948
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... ORPHA:457279
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia OMIM:268800
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil... OMIM:212066
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Overweight, Head-banging, Self-injurious behavior, Attention deficit hypera... OMIM:619575
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... ORPHA:319182
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive, Cognitive impairment, Dysphagia OMIM:617527
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or viol... ORPHA:1675
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... ORPHA:1001
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Limb dystonia ORPHA:457351
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Rauch-Steindl Syndrome
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Mend Syndrome
Failure to thrive, Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Dystonia, Abnormal repetiti... ORPHA:522077
Bainbridge-Ropers Syndrome
Inability to walk, Self-injurious behavior, Recurrent hand flapping, Failure to thrive, Abnormal ... OMIM:615485
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Failure to thrive OMIM:615574
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness OMIM:301030
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Obesity, Irritability, Truncal... OMIM:615873
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Decrea... OMIM:619005
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor... ORPHA:468678
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Gait disturbance, Attention deficit hyperactivity disorder, Failure to... ORPHA:464311
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... ORPHA:261494
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... OMIM:614756
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Abnormal repetitive mannerisms, Obesity, Aggressive behavior OMIM:301066
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Trichothiodystrophy
Reduced social reciprocity, Intention tremor, Gait ataxia ORPHA:33364
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive, Abnormal repetitiv... ORPHA:464306
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, Abnormal repetitive ... OMIM:617330
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t... OMIM:619512
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Abnormal repetitive mannerisms, Choreoathetosis, Dysphagia OMIM:619777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur... ORPHA:513456
Williams Syndrome
Ataxia, Failure to thrive in infancy, Tremor, Obesity, Dysmetria, Depression, Gait disturbance, G... ORPHA:904
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Obesity, Difficulty walking OMIM:618653
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Kinsship Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Bruxism OMIM:619297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... ORPHA:534
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Arboleda-Tham Syndrome
Dystonia, Abnormal repetitive mannerisms, Gait imbalance, Dysphagia OMIM:616268
1P36 Deletion Syndrome
Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Dysphagia, Failure to thrive, Abn... ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp... ORPHA:438213
Norrie Disease
Cachexia, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Failur... ORPHA:649
Ogden Syndrome
Irritability, Torticollis, Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Self-injurious behavior, Truncal obesity, Failure to thrive, Abnormal repetitive mannerisms OMIM:612474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... OMIM:259050
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Wolf-Hirschhorn Syndrome
Small for gestational age, Failure to thrive, Abnormal repetitive mannerisms OMIM:194190
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Bruxism, Impaired social interactions, Dysphagia, De... ORPHA:2152
Coffin-Siris Syndrome 12
Failure to thrive, Abnormal repetitive mannerisms OMIM:619325
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive m... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive m... 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 Cbarp

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 Cbarp.

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

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
Cbarptm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cbarptm2e(EUCOMM)Hmgu Targeted, non-conditional allele Mice
Cbarptm2e.1(EUCOMM)Hmgu Promoter excision from Targeted, non-conditional allele Mice

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