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Gene: Brinp1 MGI:1928478

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
bone morphogenic protein/retinoic acid inducible neural specific 1
Synonyms:
Fam5a,  Dbc1,  Dbccr1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Brinp1 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 Brinp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity, Short stature DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
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, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased b... OMIM:614063
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Short stature, Decreased body weight OMIM:616311
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms, Short stature OMIM:300271
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
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
Foxg1 Syndrome
Short stature, Inability to walk, Choreoathetosis, Severe postnatal growth retardation, Agenesis ... ORPHA:561854
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... OMIM:617270
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Hartnup Disorder
Hyperactivity, Short stature, Attention deficit hyperactivity disorder, Episodic ataxia, Emotiona... OMIM:234500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Short stature, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repeti... OMIM:617862
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Short stature, Inability to walk, Limb ataxia, Self-injurious behavior,... OMIM:617695
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Intrauterine growth retardation OMIM:620270
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... OMIM:605899
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity, Short stature ORPHA:85288
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social inter... OMIM:617820
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms, Intrauterine growth retardation OMIM:615282
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Short stature, Small for gestational age, Failure to thrive in infancy, Bi... OMIM:614104
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria... OMIM:620242
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Hyperactivity, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Hsd10 Disease
Short attention span, Ataxia, Postnatal growth retardation, Choreoathetosis, Gait disturbance, Dy... ORPHA:391417
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Short stature, Aggressive behavior OMIM:615541
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Short stature, Shyness, Overweight, Difficulty walking, Abnormal repetitive manner... ORPHA:280763
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... ORPHA:411515
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Short stature, Small for gestational age, Repetitive compulsive behavior, Compulsi... ORPHA:352490
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Short stature, Aggressive behavior, Attention deficit hypera... OMIM:618342
Cdkl5-Deficiency Disorder
Growth delay, Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, Stereotypica... ORPHA:505652
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Short stature, Bruxism OMIM:300434
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... ORPHA:3077
Short Stature, Developmental Delay, And Congenital Heart Defects
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... OMIM:617044
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Short stature, Polyphagia, Growth delay, Self-injurious behavior, Abnormal... ORPHA:228402
Galloway-Mowat Syndrome 6
Short stature, Growth delay, Decreased body weight, Intrauterine growth retardation, Abnormal rep... OMIM:618347
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Mild postnatal growth retardation, Abnormal temper tantrums, Abnormal soci... ORPHA:530983
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,... OMIM:620292
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Short stature, Aggressive behavior, Failure to thrive, Agenesis of corpus callosum OMIM:615286
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Xq28 (MECP2) duplication
Inability to walk, Depression, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive man... DECIPHER:45
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Short stature, Postnatal growth retardation, Decreased body ... OMIM:608747
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... OMIM:607485
Intellectual Developmental Disorder, Autosomal Recessive 73
Irritability, Recurrent hand flapping, Impulsivity, Gait ataxia OMIM:619717
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Failure to thrive, Aggressive behavior OMIM:618362
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Christianson Syndrome
Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man... ORPHA:85278
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Aggressive behavior, Obesity, Impaired social interactions, Polyphagia ORPHA:329249
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Failure to thrive, Abnorm... ORPHA:927
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Gait ataxia, Intrauterine growth retardation, Crouch gait, Failure to thrive OMIM:620145
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o... ORPHA:79264
Potocki-Lupski Syndrome
Hyperactivity, Short stature, Small for gestational age, Oral-pharyngeal dysphagia, Failure to th... OMIM:610883
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking... OMIM:600430
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Short stature, Small for gestational age, Postnatal growth r... ORPHA:73272
Atypical Rett Syndrome
Restrictive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Growth delay, Gait distur... ORPHA:3095
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
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Short stature, Aggressive behavior, Irritability, Abnormal repetitive mannerisms ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Gait dist... OMIM:300986
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Smith-Magenis Syndrome
Hyperactivity, Short stature, Self hugging, Increased body weight, Head-banging, Onychotillomania... OMIM:182290
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors OMIM:620021
Bilateral Generalized Polymicrogyria
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Lateral ventricl... ORPHA:208447
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short attention span, Short stature, Aggressive behavior, Agitation OMIM:300558
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity ... OMIM:617788
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mut... ORPHA:457240
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Hijazi-Reis Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Growth delay OMIM:612716
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Postnatal growth retardation, Buli... OMIM:300912
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Growth delay... OMIM:123450
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Short stature, Tics, Attention deficit hyperactivity disorder OMIM:617808
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Self-injurious behavior, Inappropriate laughter, Bruxism, Stereotypical hand w... OMIM:614254
Gm2 Gangliosidosis, Ab Variant
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavi... ORPHA:309246
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Short stature, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injur... OMIM:620023
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Inappropriate laughter OMIM:618859
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Short stature, Aggressive behavior, Gait disturbance, Attention deficit hyperac... OMIM:300352
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Alazami Syndrome
Abnormal eating behavior, Postnatal growth retardation, Abnormal repetitive mannerisms, Self-muti... ORPHA:319671
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Intrauterine growth retardation, Hyperactivity, Failure to thrive, Aggressive behavior ORPHA:369939
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Short stature, Diminished ability to concentrate, Compulsive behaviors, Attention deficit... OMIM:615656
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Growth delay, Attention deficit hyperactivity disor... OMIM:619121
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Lateral ventricle dilatation, Abnormal repetitive mannerisms OMIM:613443
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Recurrent hand flapping, Pica OMIM:615032
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms, Growth delay, Self-injurious behavior, Intrauterine growth retard... ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... OMIM:617796
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Overweight, Repetitive compulsive behavior, Attention deficit hyperactivity... ORPHA:391372
Intellectual Developmental Disorder, Autosomal Dominant 48
Intrauterine growth retardation, Hyperactivity, Abnormal repetitive mannerisms, Lateral ventricle... OMIM:617751
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... ORPHA:411511
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Growth delay, Abnormal repetitive mannerisms ORPHA:3306
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Inability to walk, Repetitive compulsive behavior, Dysphagia, Depression, Hostility, Brux... OMIM:300260
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Gait disturbance, Impaired social interactions, Recurrent hand ... ORPHA:544254
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms ORPHA:529965
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D... ORPHA:98784
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Bruxism, Choreoathetosis, Growth delay, Dysphagia, Self-mutilation OMIM:619422
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Obesity, Low frustration tolera... ORPHA:163681
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Rauch-Steindl Syndrome
Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Intrauterine gro... OMIM:619695
48,Xxyy Syndrome
Ataxia, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitive manner... ORPHA:10
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia OMIM:619317
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Obesity, Agenesis of corpus callosum, Gait imbalance, A... OMIM:619312
Ritscher-Schinzel Syndrome 4
Ataxia, Short stature, Impulsivity, Aggressive behavior, Athetosis, Agenesis of corpus callosum, ... OMIM:619435
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia OMIM:619725
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Rett Syndrome
Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Motor deterioration,... OMIM:312750
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Short stature, Overweight, Head-banging, Self-injurious behavior, Lateral v... OMIM:619575
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Abnormal repetitive mannerisms, Self-injurious behavior, Compulsive be... OMIM:613174
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Pilarowski-Bjornsson Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms OMIM:617682
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-banging, Attention defi... OMIM:619103
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Postnatal growth retardation, Inability to walk, Partial ag... ORPHA:300570
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Choreoathetosis, Impaired social interactions, Attention deficit hyperactivity disorder,... ORPHA:261197
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Inability to walk, Lateral ventricle dilatation, Bruxism OMIM:615716
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Short stature, Rhizomelia, Aggres... ORPHA:319182
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Abnormal repetitive mannerisms, Inappropriate laughter, Failure to thrive, Agenesi... OMIM:615802
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
22Q11.2 Duplication Syndrome
Growth delay, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsiv... ORPHA:1727
Coffin-Siris Syndrome 7
Hyperactivity, Short stature, Severe temper tantrums, Compulsive behaviors, Abnormal repetitive m... OMIM:618027
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance OMIM:618141
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Lateral ventricle dilatatio... OMIM:619229
Distal Xq28 Microduplication Syndrome
Short stature, Impulsivity, Aggressive behavior, Self-biting, Depression, Tip-toe gait, Stereotyp... ORPHA:293939
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... OMIM:618914
Optic Atrophy 11
Hyperactivity, Ataxia, Short stature, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rock... OMIM:617302
Cystinosis
Short stature, Gait disturbance, Delayed puberty, Polydipsia, Failure to thrive, Abnormal repetit... ORPHA:213
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
Smith-Magenis Syndrome
Short stature, Failure to thrive in infancy, Obesity, Self-injurious behavior, Gait disturbance, ... ORPHA:819
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
White-Sutton Syndrome
Waddling gait, Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavio... OMIM:616364
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Short attention span, Hyperactivity, Obesity, Dysphagia, Decreased body weight ORPHA:589821
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Tongue thrusting ORPHA:77299
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Failure to thrive, Abnormal r... ORPHA:778
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Short stature, Compulsi... ORPHA:401777
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... OMIM:619293
Transketolase Deficiency
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... ORPHA:488618
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased body mass index, Confusion, Abnormal eating behavior, Aggr... ORPHA:247585
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... ORPHA:43
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Obesity, Intrauterine growth retardation, Failure to thrive, Self-m... ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Obesity, Choreoathetosis, Shuffling gait, Bruxism, Emotional lability, Spas... OMIM:300055
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Unsteady gait, Recurrent hand flapping, Pica, Short stature OMIM:618480
Oromandibular Dystonia
Depression, Weight loss, Dysphagia, Bruxism ORPHA:93958
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:261144
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Attention deficit hyperactivity diso... OMIM:620073
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,... ORPHA:476126
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Short stature, Cachexia, Athetosis, Self-mutilation ORPHA:52503
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia OMIM:617807
Intellectual Developmental Disorder, Autosomal Dominant 22
Short stature, Proportionate short stature, Growth delay, Bruxism, Intrauterine growth retardatio... OMIM:612337
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive OMIM:619239
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Prader-Willi Syndrome Due To Translocation
Short stature, Obesity, Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Ski... ORPHA:177907
Congenital Disorder Of Glycosylation, Type Iia
Short stature, Aggressive behavior, Postnatal growth retardation, Unsteady gait, Failure to thriv... OMIM:212066
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Abnormal repetitive mannerisms, Ataxia OMIM:619428
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Growth delay, Inappropriate l... OMIM:103050
2Q37 Microdeletion Syndrome
Short stature, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal ... ORPHA:1001
Rett Syndrome, Congenital Variant
Tongue thrusting, Athetosis, Irritability, Impaired social interactions, Bruxism, Abnormal repeti... OMIM:613454
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Short stature, Failure to thrive in infancy, Postnatal growth retardation, Tongue ... ORPHA:261323
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 1
Short attention span, Ataxia, Short stature, Aggressive behavior, Postnatal growth retardation, S... OMIM:156200
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Short stature, Limb ataxia, Self-injurious behavior, Truncal ataxia, Recurrent ... OMIM:617101
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen... ORPHA:309271
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Ataxia, Short stature, Abnormal eating behavior, Abnormal dr... ORPHA:209905
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Low frustration toleran... ORPHA:457279
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Abnormal repetitive mannerisms, Gait ataxia OMIM:616579
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Impaired soc... OMIM:309520
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619680
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
48,Xxxy Syndrome
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... ORPHA:96263
Argininemia
Hyperactivity, Anorexia, Postnatal growth retardation, Irritability, Spastic gait OMIM:207800
Bainbridge-Ropers Syndrome
Failure to thrive, Inability to walk, Growth delay, Self-injurious behavior, Lateral ventricle di... OMIM:615485
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Decreased body weight, Intrauterine growth retardation,... OMIM:619005
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Restrictive be... OMIM:619475
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia ORPHA:435638
Van Esch-O'Driscoll Syndrome
Short stature, Impulsivity, Shyness, Growth delay, Attention deficit hyperactivity disorder, Intr... OMIM:301030
47,Xyy Syndrome
Hyperactivity, Impaired social interactions, Impulsivity, Attention deficit hyperactivity disorder ORPHA:8
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Bruxism, Obesity, Irritability, Lat... OMIM:615873
Kleefstra Syndrome
Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Agenesis of corpus callosum... ORPHA:261494
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Impaired social interacti... OMIM:606232
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
White-Sutton Syndrome
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... ORPHA:468678
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Short stature, Aggressive behavior, Unsteady gait, Polyphagia, Obes... ORPHA:96121
Fg Syndrome Type 1
Broad-based gait, Short stature, Compulsive behaviors, Attention deficit hyperactivity disorder, ... ORPHA:93932
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... ORPHA:309263
Niemann-Pick Disease, Type C2
Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Megalocornea-Intellectual Disability Syndrome
Short stature, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Gait disturbance, Agitation, Bruxism OMIM:617903
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Partial agenesis of the corpus callosum, Self-injurious behavior, Agenesis of corp... OMIM:619512
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:353281
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Birth length less than 3rd percentile, Gait disturbance, Attention def... ORPHA:464311
9P13 Microdeletion Syndrome
Short stature, Attention deficit hyperactivity disorder, Bruxism ORPHA:324313
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Progressive... ORPHA:580
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior ORPHA:309256
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Growth delay, Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Bruxism, Agenesis of corpus callosum ORPHA:48652
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Short stature, Small for gestational age, Gait disturbance, Intrauterine growth re... ORPHA:464306
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cere... ORPHA:314647
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... ORPHA:353277
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Ataxia, Small for gestational age, Aggressive behavior, Inability to walk, Growth ... OMIM:617799
Dilated Cardiomyopathy With Ataxia
Growth delay, Repetitive compulsive behavior, Ataxia, Intrauterine growth retardation ORPHA:66634
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depressi... ORPHA:646
Nmda Receptor Encephalitis
Short attention span, Confusion, Hypersexuality, Depression, Choreoathetosis, Agitation, Memory i... ORPHA:217253
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Self-injurious behavior, Agenesis of corpus callosum, Severe failure to thr... ORPHA:468631
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Short stature, Aggressive behavior, Unsteady gait, Dysme... OMIM:614756
Mend Syndrome
Hyperactivity, Short stature, Aggressive behavior, Abnormal social behavior, Failure to thrive ORPHA:401973
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Growth delay, Postnatal growth retardation, Abnormal repetitive mannerisms OMIM:301040
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Abnormal repetitive mannerisms, Obesity, Aggressive behavior OMIM:301066
Pyruvate Carboxylase Deficiency
Failure to thrive, Ataxia, Anorexia, Growth delay, Tip-toe gait, Abnormal temper tantrums, Compul... ORPHA:3008
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Kinsship Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Short stature, Bruxism OMIM:619297
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri... ORPHA:522077
Okur-Chung Neurodevelopmental Syndrome
Ataxia, Recurrent hand flapping, Attention deficit hyperactivity disorder, Frequent temper tantru... OMIM:617062
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Short stature, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abnor... OMIM:617330
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Disproportionate short stature, Abnormal repetitive mannerisms ORPHA:508533
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Small for gestational age, Postnatal growth retardation, Inappropriate laughter, A... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Small for gestational age, Postnatal growth retardation, Inappropriate laughter, A... ORPHA:363958
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur... ORPHA:513456
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Obesity, Difficulty walking OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms, Short stature OMIM:309590
Oculocerebrorenal Syndrome Of Lowe
Short stature, Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyper... ORPHA:534
Developmental And Epileptic Encephalopathy 100
Choreoathetosis, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia OMIM:619777
1P36 Deletion Syndrome
Short stature, Polyphagia, Obesity, Self-injurious behavior, Agenesis of corpus callosum, Gait di... ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Short stature ORPHA:508498
Wolf-Hirschhorn Syndrome
Short stature, Small for gestational age, Growth delay, Severe postnatal growth retardation, Agen... OMIM:194190
Norrie Disease
Cachexia, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, Delaye... ORPHA:649
Ogden Syndrome
Short stature, Postnatal growth retardation, Growth delay, Irritability, Dysphagia, Intrauterine ... OMIM:300855
Lowe Oculocerebrorenal Syndrome
Short stature, Aggressive behavior, Postnatal growth retardation, Failure to thrive, Abnormal rep... OMIM:309000
Arboleda-Tham Syndrome
Growth delay, Gait imbalance, Dysphagia, Intrauterine growth retardation, Abnormal repetitive man... OMIM:616268
Histidinemia
Hyperactivity ORPHA:2157
Primrose Syndrome
Restlessness, Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Truncal obesit... OMIM:259050
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short stature, Growth delay, Attention deficit hyperactivity disorder, Dysphagia, Intrauterine gr... OMIM:619522
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Growth delay, Intrauterine growth retardation, Abnormal repetitive mannerisms OMIM:301044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Coffin-Siris Syndrome 12
Failure to thrive, Abnormal repetitive mannerisms, Short stature OMIM:619325
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms, Truncal obesity OMIM:612474
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Short stature, Inability to walk, Bruxism, Growth delay, Agenesis of co... ORPHA:2152
Williams Syndrome
Ataxia, Short stature, Failure to thrive in infancy, Obesity, Dysmetria, Depression, Gait disturb... ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Inability to walk, Bruxism, Agenesis of corpus callosum, Lateral... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Inability to walk, Bruxism, Agenesis of corpus callosum, Lateral... 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 Brinp1

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 Brinp1.

No publications found that use IMPC mice or data for Brinp1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Brinp1tm22(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Brinp1tm22(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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