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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 stature, Short attention span, Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
N-Acetylaspartate Deficiency
Broad-based gait, Short attention span, Self-mutilation, Decreased body weight, Short stature, Tr... OMIM:614063
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Intellectual Developmental Disorder, Autosomal Dominant 33
Short stature, Hyperactivity, Decreased body weight OMIM:616311
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Intellectual Developmental Disorder, X-Linked 72
Short stature, Motor stereotypy, Hyperactivity OMIM:300271
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Smith-Magenis syndrome
Short stature, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Stereotypical body rocking, Recurrent hand flapping, Agitation, ... OMIM:309548
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Stereotypical hand wr... ORPHA:561854
Fraxe Intellectual Disability
Intrauterine growth retardation, Stereotypical body rocking, Recurrent hand flapping, Agitation, ... ORPHA:100973
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... ORPHA:275864
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation OMIM:617171
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Schizophrenia 15
Hyperactivity OMIM:613950
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Short stature, Motor stereotypy OMIM:617862
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Frontotemporal dementia, Dyspha... OMIM:612069
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, De... OMIM:617695
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Sho... OMIM:234500
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Frontotemporal dem... OMIM:600795
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Inability to walk OMIM:617820
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Glycine Encephalopathy 1
Agenesis of corpus callosum, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impu... OMIM:605899
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Small for gestational age, Hyperactivity ORPHA:85288
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Intrauterine growth retardation, Motor stereotypy OMIM:615282
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Intrauterine growth retardation, Inappropriate laughter, Stereotypi... OMIM:614104
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Motor stereotypy, Failure to thrive, Irritability OMIM:617393
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Failure to thrive, Postnatal growth retardation, Short attention span, Aggressive beh... OMIM:620242
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia, Short stature ORPHA:329249
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy OMIM:617830
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Growth delay, Failure to thrive, Hyperactivity OMIM:274270
Hsd10 Disease
Postnatal growth retardation, Short attention span, Gait disturbance, Ataxia, Dysphagia, Abnormal... ORPHA:391417
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Weight loss, Hyperactivity, Ataxia, Deme... ORPHA:248111
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Cdkl5-Deficiency Disorder
Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Gait disturbanc... ORPHA:505652
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Excessive shyness, Short stature, Overweight, Motor stereotypy, Waddling gait ORPHA:280763
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Short st... ORPHA:352490
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Decreased body weight, Aggressive behavior, Attention deficit hype... OMIM:618342
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Bruxism, Hyperactivity OMIM:300434
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Proportionate short stature, Attention deficit hyperactivity disorder, C... OMIM:617044
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Gait ataxia, Emotional lability, Aggressive ... ORPHA:98818
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Paroxysmal bursts of laughter, Hyperactivi... ORPHA:228402
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Mild postnatal growth retardation, Hyperactivity, Ataxia, Motor stereot... ORPHA:530983
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Galloway-Mowat Syndrome 6
Growth delay, Intrauterine growth retardation, Decreased body weight, Paroxysmal bursts of laught... OMIM:618347
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping, Delayed early-childhood social milestone development OMIM:618147
Xq28 (MECP2) duplication
Depression, Failure to thrive, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Short stature OMIM:615286
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo... OMIM:608747
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity, Delayed early-childho... OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Impulsivity, Irritability OMIM:619717
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Christianson Syndrome
Inappropriate laughter, Gait ataxia, Cachexia, Dysphagia, Truncal ataxia, Motor stereotypy ORPHA:85278
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Failure to thrive, Hyperactivity OMIM:618362
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor s... ORPHA:927
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Atypical Rett Syndrome
Restrictive behavior, Inability to walk, Bruxism, Inappropriate laughter, Gait ataxia, Reduced so... ORPHA:3095
Developmental And Epileptic Encephalopathy 109
Crouch gait, Failure to thrive, Intrauterine growth retardation, Gait ataxia, Hyperactivity OMIM:620145
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Loss of ambulation, Dysphagia, Cognitive impairment, Motor deteri... ORPHA:79264
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hyperactivity, Short stature, Motor stereotypy, Sma... OMIM:610883
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attenti... OMIM:300986
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Gait ataxia, Stereotypical hand wringing, Compulsive ... OMIM:618917
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Recurrent hand flapping, Short attention span, Gait ataxia, Emotional lability... OMIM:619580
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity, Short stature, Motor stereotypy ORPHA:391307
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Intrauterine growth retardation, Reduced social reciprocity, Attention deficit... ORPHA:163976
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Short attention... ORPHA:73272
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Compulsive behaviors, Attention deficit hyperactivity disorder, Recurrent hand flapping OMIM:620021
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Gait ataxia, Self-mutilation, Hyperactivity, Short stature, Paroxysmal bursts of laughter, Impuls... OMIM:620445
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Growth delay, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, S... ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 51
Fixated interests, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attention def... OMIM:617788
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... ORPHA:1020
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Self-mutilation, Gait disturbance, Short stature, Overweight, Motor stereotypy ORPHA:457240
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Hijazi-Reis Syndrome
Postnatal growth retardation, Gait disturbance, Motor stereotypy OMIM:301094
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Aggressive behavior, Hyperactivity, Short stature, Restlessness, Agitation OMIM:300558
Lopes-Maciel-Rodan Syndrome
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Rett Syndrome
Growth delay, Failure to thrive, Difficulty walking, Bruxism, Inability to walk, Stereotypical ha... ORPHA:778
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Bulimia, Postnatal growth retardation, Stereotypical body rocking, Bruxism, Re... OMIM:300912
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
Cri-Du-Chat Syndrome
Growth delay, Difficulty walking, Oppositional defiant disorder, Short attention span, Overfriend... OMIM:123450
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hyperactivity, Short stat... OMIM:182290
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, Obesity, Low frustration tolerance, Self-mutilati... ORPHA:163681
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A... ORPHA:168491
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Coffin-Siris Syndrome 6
Short stature, Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Lateral ventricle dilatation, Disinhibition, Polyphagia, Repetitive compulsive... OMIM:607485
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Inability to walk, Bruxism, Inappropriate laughter, Stereotypical hand w... OMIM:614254
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Short attention span, Reduced ... OMIM:617854
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Cognitive i... ORPHA:309246
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:98794
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Growth delay, Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor g... OMIM:619121
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Failure to thrive, Reduced social reciprocity, Aggressive behavior, Attention d... OMIM:300352
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping OMIM:618859
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Growth delay, Hostility, Inability to walk, Bruxism, Decreased body weight, Repetitiv... OMIM:300260
Alazami Syndrome
Postnatal growth retardation, Abnormal eating behavior, Self-mutilation, Stereotypical hand wring... ORPHA:319671
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... OMIM:615656
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Motor stereotypy ORPHA:529965
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy, Lateral ventricle dilatation OMIM:613443
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Intrauterine growth retardation, Failure to thrive, Hyperactivity ORPHA:369939
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Short stature, Ch... OMIM:620023
4Q21 Microdeletion Syndrome
Self-injurious behavior, Growth delay, Intrauterine growth retardation, Agenesis of corpus callos... ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 48
Intrauterine growth retardation, Motor stereotypy, Hyperactivity, Lateral ventricle dilatation OMIM:617751
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Overweight, Recurrent hand flapping OMIM:615032
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Overweight, Motor stereotypy, Smal... OMIM:617796
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:411511
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment ORPHA:98784
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Reduced social reciprocity, Aggressive behavior, Dysphagia, Ataxia, Growth delay OMIM:619738
Spinocerebellar Ataxia, Autosomal Recessive 31
Bruxism, Self-mutilation, Dysphagia, Ataxia, Growth delay, Choreoathetosis OMIM:619422
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Motor stereotypy, Choreoathetosis, Ataxia OMIM:619317
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Failure to thrive, Stereotypical body rocking, Unsteady gait, Tongue thrusting,... OMIM:617865
48,Xxyy Syndrome
Depression, Obesity, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy ORPHA:10
Rauch-Steindl Syndrome
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Aggressive beha... OMIM:619695
Pilarowski-Bjornsson Syndrome
Postnatal growth retardation, Motor stereotypy OMIM:617682
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy, Ataxia OMIM:619725
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Failure to thrive, Lateral ventricle dilatation, Frequent ... OMIM:619575
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Radio-Tartaglia Syndrome
Obesity, Gait imbalance, Agenesis of corpus callosum, Aggressive behavior, Attention deficit hype... OMIM:619312
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Ataxia, Short stature, Athetosis, Mo... OMIM:619435
Rett Syndrome
Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Motor deterioration, Gait apraxia, S... OMIM:312750
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Reduced social reciprocity, Attention deficit hyperactivity disorder,... ORPHA:261197
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Motor stereotypy, Sma... OMIM:613174
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Inability to walk, Postnatal growth retardation, Short attention sp... ORPHA:300570
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Frequent temper tantrums, Dysplastic corpus callosum, Attention deficit hyperactivi... OMIM:619103
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Bruxism, Growth delay, Lateral ventricle dilatation OMIM:615716
Wiedemann-Steiner Syndrome
Rhizomelia, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Sho... ORPHA:319182
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Inappropriate laughter, Agenesis of corpus callosum, Short stature, Motor ster... OMIM:615802
Coffin-Siris Syndrome 7
Hyperactivity, Short stature, Severe temper tantrums, Motor stereotypy, Compulsive behaviors OMIM:618027
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment, Dysdiadochokinesis OMIM:238700
22Q11.2 Duplication Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Growth delay ORPHA:1727
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait OMIM:618205
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Motor stereotypy, Ataxia OMIM:619092
Optic Atrophy 11
Stereotypical body rocking, Dysmetria, Attention deficit hyperactivity disorder, Hyperactivity, G... OMIM:617302
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Restless legs, Agitation... ORPHA:2828
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Motor stereotypy, Imp... OMIM:618914
Distal Xq28 Microduplication Syndrome
Depression, Tip-toe gait, Stereotypical body rocking, Aggressive behavior, Attention deficit hype... ORPHA:293939
Developmental And Epileptic Encephalopathy 67
Gait disturbance, Recurrent hand flapping, Athetosis OMIM:618141
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Inability to walk, Intrauterine growth retardation, Obesity, Short ... OMIM:619229
Cystinosis
Polydipsia, Failure to thrive, Gait disturbance, Delayed puberty, Short stature, Motor stereotypy ORPHA:213
Smith-Magenis Syndrome
Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention deficit hyperactivity d... ORPHA:819
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Loss of amb... ORPHA:2388
Infantile Neuroaxonal Dystrophy
Mental deterioration, Short attention span, Emotional lability, Unsteady gait, Gait disturbance, ... ORPHA:35069
White-Sutton Syndrome
Self-injurious behavior, Failure to thrive, Intrauterine growth retardation, Obesity, Overfriendl... OMIM:616364
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Lateral ventricle dilatation ORPHA:77299
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Short attention span, Decreased body weight, Hyperactivity, Dysphagia, Bradyphrenia ORPHA:589821
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... OMIM:619293
Citrullinemia Type Ii
Decreased body mass index, Memory impairment, Delayed menarche, Confusion, Abnormal eating behavi... ORPHA:247585
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H... ORPHA:43
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Motor stereotypy ORPHA:411986
Transketolase Deficiency
Self-injurious behavior, Proportionate short stature, Attention deficit hyperactivity disorder, C... ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617061
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Short stature, Pica, Recurrent hand flapping, Unsteady gait OMIM:618480
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Shuffling gait, Bruxism, Obesity, Emotional lability, Ataxia, Spastic gait, Restlessness, Choreoa... OMIM:300055
Fragile X Syndrome
Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Motor stereotypy OMIM:619877
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Oromandibular Dystonia
Bruxism, Weight loss, Dysphagia, Depression ORPHA:93958
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Agenesis of corpus callosum OMIM:620073
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Growth delay, Agenesis of corpus callosum ORPHA:261144
13Q12.3 Microdeletion Syndrome
Failure to thrive, Intrauterine growth retardation, Obesity, Self-mutilation, Hyperactivity, Shor... ORPHA:412035
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperacti... ORPHA:476126
X-Linked Creatine Transporter Deficiency
Self-mutilation, Cachexia, Hyperactivity, Ataxia, Short stature, Athetosis ORPHA:52503
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Gait ataxia, Broad-based gait, Motor stereotypy OMIM:617807
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Intellectual Developmental Disorder, Autosomal Dominant 22
Bruxism, Intrauterine growth retardation, Stereotypical hand wringing, Proportionate short statur... OMIM:612337
2Q37 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Short stature, Motor stereotypy, Compulsive be... ORPHA:1001
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy, Inability to walk OMIM:618004
Rett Syndrome, Congenital Variant
Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, Athetosis, Motor stereotypy OMIM:613454
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Motor stereotypy OMIM:618067
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Growth delay, Ataxia OMIM:619428
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Intrauterine growth retarda... ORPHA:177907
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Failure to thrive, Intrauterine growth retardation, Aggressive behavior,... OMIM:620494
Wagro Syndrome
Obesity, Emotional lability, Reduced social reciprocity, Low frustration tolerance, Polyphagia, A... OMIM:612469
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Postnatal growth retardation, Self-mutilation, Stereotypical hand wringing, Ag... OMIM:212066
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Failure to thrive in infancy, Postnatal growth retardation, Stereotypica... ORPHA:261323
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy OMIM:616351
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Postnatal growth retardation, Inappropriate laughter, Bruxism, Recurrent... OMIM:156200
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Inability to walk, Delayed menarche, Obesity, Inapprop... ORPHA:72
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Adenylosuccinase Deficiency
Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Aggressive behavior, Hyp... OMIM:103050
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Broad-based gait, Limb ataxia, Recurrent hand flapping, Short stature, T... OMIM:617101
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Lateral ventricle dilatation, Low frustration tolerance, Aggressive beh... ORPHA:457279
Brain-Lung-Thyroid Syndrome
Falls, Failure to thrive, Abnormal eating behavior, Short attention span, Agenesis of corpus call... ORPHA:209905
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Difficulty walking, Chorea,... ORPHA:309271
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Overfriendliness OMIM:616579
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Short ... ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Reduced social reciprocity, Agenesis of corpus callosum, Low frustration tole... OMIM:309520
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Motor stereotypy, Dysphagia OMIM:617802
Marbach-Schaaf Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Recurrent hand flapping OMIM:619680
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Short attention span, Gait ataxia, Dysmetria, Emotional lability, Hyperacti... OMIM:610217
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Intrauterine growth retardation, Self-mutilation, Decreased body weight, Attention deficit hypera... OMIM:619005
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Bainbridge-Ropers Syndrome
Self-injurious behavior, Failure to thrive, Lateral ventricle dilatation, Inability to walk, Intr... OMIM:615485
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Lateral ventricle dilatation, Bruxism, Intrauterine growth retardation, Obesit... OMIM:615873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Emotional lability, Decreased body weight, Cognitive impairment, Ataxia, Tics, ... OMIM:619475
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia ORPHA:435638
Van Esch-O'Driscoll Syndrome
Growth delay, Intrauterine growth retardation, Attention deficit hyperactivity disorder, Excessiv... OMIM:301030
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Reduced social reciprocity ORPHA:8
48,Xxxy Syndrome
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive o... ORPHA:96263
Argininemia
Postnatal growth retardation, Irritability, Hyperactivity, Anorexia, Spastic gait OMIM:207800
Kleefstra Syndrome
Self-injurious behavior, Obesity, Self-mutilation, Agenesis of corpus callosum, Aggressive behavi... ORPHA:261494
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
White-Sutton Syndrome
Self-injurious behavior, Obesity, Aggressive behavior, Hyperactivity, Short stature, Motor stereo... ORPHA:468678
Phelan-Mcdermid Syndrome
Broad-based gait, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusting, Uns... OMIM:606232
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Obesity, Motor stereotypy OMIM:610253
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Reduced social reciprocity, Dysmetria, Aggressive behavior, Mot... ORPHA:96121
Fg Syndrome Type 1
Broad-based gait, Slender build, Attention deficit hyperactivity disorder, Short stature, Abnorma... ORPHA:93932
Niemann-Pick Disease, Type C2
Dementia, Motor stereotypy, Dysphagia, Ataxia OMIM:607625
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age, Agitation, Hyperactivity ORPHA:424
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait... ORPHA:309263
Megalocornea-Intellectual Disability Syndrome
Short stature, Motor stereotypy, Ataxia ORPHA:2479
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Failure to thrive, Frequent temper tantrums, Agenesis of corpus callosum... OMIM:619512
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Gait disturbance, Recurrent hand flapping, Agitation OMIM:617903
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Abnormal temper tantrums, Mental deterioration, Growth dela... ORPHA:580
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Intrauterine growth retardation, Birth length less than 3rd percentile, Attent... ORPHA:464311
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353281
9P13 Microdeletion Syndrome
Short stature, Bruxism, Attention deficit hyperactivity disorder ORPHA:324313
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Growth delay, Dysphagia, Ataxia ORPHA:496641
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Agitation ORPHA:99819
Monosomy 22Q13.3
Bruxism, Obesity, Agenesis of corpus callosum, Hair-pulling, Hyperactivity ORPHA:48652
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Intrauterine growth retardation, Gait disturbance, Hyperactivity, Short statur... ORPHA:464306
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ... OMIM:234200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... ORPHA:353277
Legius Syndrome
Short attention span, Attention deficit hyperactivity disorder, Hyperactivity, Cognitive impairme... ORPHA:137605
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy, Inability to walk ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 54
Inability to walk, Bruxism, Irritability, Aggressive behavior, Ataxia, Short stature, Growth dela... OMIM:617799
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Self-injurious behavior, Intrauterine growth retardation, Agenesis of corpu... ORPHA:468631
Nmda Receptor Encephalitis
Mania, Memory impairment, Depression, Confusion, Short attention span, Delirium, Motor stereotypy... ORPHA:217253
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... OMIM:620330
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Low frustration... ORPHA:646
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity di... OMIM:614756
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Growth delay, Choreoathetosis OMIM:612716
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Growth delay, Motor stereotypy OMIM:301040
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Dysmetria, Aggressive behavior, Ataxia, Unsteady gait, Abnormal social behavio... ORPHA:314647
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Obesity, Motor stereotypy, Short attention span OMIM:301066
Pyruvate Carboxylase Deficiency
Ataxia, Abnormal temper tantrums, Failure to thrive, Tip-toe gait, Recurrent hand flapping, Agene... ORPHA:3008
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
Mend Syndrome
Failure to thrive, Aggressive behavior, Hyperactivity, Short stature, Abnormal social behavior ORPHA:401973
Kinsship Syndrome
Short stature, Bruxism, Motor stereotypy, Failure to thrive OMIM:619297
Developmental And Epileptic Encephalopathy 2
Inability to walk, Motor stereotypy OMIM:300672
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Motor stereotypy, Choreoath... ORPHA:522077
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Short stature, Truncal ataxia, Motor... OMIM:617330
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Frequent temper tantrums, Recurrent hand flapping, Attention deficit hyperacti... OMIM:617062
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy OMIM:610954
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Obesity, Abnormal fear-induced behavior, Abdominal obesity OMIM:219090
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, Motor stereotypy ORPHA:508533
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Inappropriate laughter, Postnatal growth retardation, Overfriendliness, Agenesis o... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Inappropriate laughter, Postnatal growth retardation, Overfriendliness, Agenesis o... ORPHA:363958
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Agenesis of corpus callosum, Polyphagia, Gai... ORPHA:1606
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Obesity, Motor stereotypy OMIM:618653
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Motor stereotypy, Dysphagia, Choreoathetosis OMIM:619777
Cornelia De Lange Syndrome 6
Compulsive behaviors, Intrauterine growth retardation, Hair-pulling OMIM:620568
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Failure to thrive, Attention deficit hyperactivity disorder,... ORPHA:534
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Failure to thrive, Stereotypical body rocking, Gait ataxia, Repetitive compulsi... ORPHA:513456
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short stature, Motor stereotypy, Small for gestational age, Hyperactivity OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Motor stereotypy, Agenesis of corpus callosum ORPHA:508498
Wolf-Hirschhorn Syndrome
Failure to thrive, Intrauterine growth retardation, Agenesis of corpus callosum, Severe postnatal... OMIM:194190
Norrie Disease
Self-injurious behavior, Failure to thrive, Irritability, Cachexia, Attention deficit hyperactivi... ORPHA:649
Ogden Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Irritability, Motor stereotypy, Dy... OMIM:300855
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Postnatal growth retardation, Aggressive behavior, Short stature, Motor stereo... OMIM:309000
Arboleda-Tham Syndrome
Growth delay, Intrauterine growth retardation, Gait imbalance, Dysphagia, Motor stereotypy OMIM:616268
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Delayed p... OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Growth delay, Intrauterine growth retardation, Attention deficit hyperactivity disorder, Dysphagi... OMIM:619522
Histidinemia
Hyperactivity ORPHA:2157
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Intrauterine growth retardation, Growth delay OMIM:301044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Coffin-Siris Syndrome 12
Short stature, Motor stereotypy, Failure to thrive OMIM:619325
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy, Failure to thrive, Truncal obesity OMIM:612474
Mowat-Wilson Syndrome
Broad-based gait, Growth delay, Inability to walk, Bruxism, Reduced social reciprocity, Decreased... ORPHA:2152
Williams Syndrome
Depression, Failure to thrive in infancy, Obesity, Gait imbalance, Overfriendliness, Dysmetria, A... ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Failure to thrive, Lateral ventricle dilatation, Inability to walk, Bruxism, Ag... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Failure to thrive, Lateral ventricle dilatation, Inability to walk, Bruxism, Ag... 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.

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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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