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:
Dbccr1,  Fam5a,  Dbc1

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
Dwarfism, Levi Type
Small for gestational age, Severe short stature OMIM:127100
22q11.2 distal deletion syndrome
Small for gestational age, Short stature DECIPHER:72
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, F... ORPHA:412066
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Decreased body weight, Unsteady gait, Short stature, Stereotypy,... OMIM:614063
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Irritability, Spastic tet... OMIM:616657
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Microcephaly, Short stature, Hyperactivity OMIM:616311
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cerebral atrophy, Irritability, Failure to thrive, Stereotypy, Microcephaly, ... OMIM:617393
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Pachygyria, Stereotypy OMIM:606053
Foxg1 Syndrome
Inability to walk, Impaired social interactions, Dystonia, Pachygyria, Agenesis of corpus callosu... ORPHA:561854
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Smith-Magenis syndrome
Self-mutilation, Short stature, Stereotypy, Hyperactivity DECIPHER:8
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Memory impairment, Aggressive behavior, Abnormality of extrapyramidal motor f... ORPHA:275864
Phosphoserine Phosphatase Deficiency
Hypertonia, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Micr... OMIM:614023
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Pica, Short stature, Stereotypy, ... OMIM:617270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Short s... OMIM:617862
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Hypoplasia of the corpus callosum, Hypertonia, Spastic tetrapare... OMIM:604317
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Hypoplasia of the corpus callosum, Poor coord... OMIM:617695
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Aggressive behavior, Spasticity ORPHA:356996
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Self-injurious behavior, Secondary microcephaly, P... OMIM:615282
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Microcephaly, Attent... OMIM:618709
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Abnormal cerebral white matter morphology, A... ORPHA:248111
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Small for gestational age, Anxiety, Failure to thrive, Stereoty... OMIM:609425
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Abnormal periventricular white matter morphology, Shyness, Difficulty walki... ORPHA:280763
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Short stature, Hyperactivity, Intrauterine growth retardation, Microcephaly OMIM:608747
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Hyperactivity, Short stature, Recurrent hand flapping, Intrauter... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Aggressive behavior, Apathy, Gait disturbance, Frontotemporal dementia, Cerebral cortic... OMIM:600795
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Short stature, Hyperactivity, Stereotypy, Microcephaly OMIM:615541
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Failure to thrive in infancy, Anxie... OMIM:613670
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Irritability, Failure to thrive, Stereotypica... ORPHA:500545
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Autism
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608636
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Dysphagia, Gait disturbance, Abnormal social behavior, Ata... ORPHA:391417
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Chorea, Apathy, Weight loss, Bradykinesia, Irritability, Anxiety OMIM:606438
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Growth delay, Cerebral atrophy, Failure to thrive, Hyperactivity, Tetrapleg... OMIM:274270
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, D... OMIM:605361
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, S... OMIM:619150
Huntington Disease-Like 1
Basal ganglia gliosis, Aggressive behavior, Dementia, Depression, Chorea, Unsteady gait, Anxiety,... OMIM:603218
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Impaired social i... ORPHA:3095
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Hypoplasia of the corpus callosum, Poor eye contact, Ataxia, Cerebra... OMIM:300983
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, ... ORPHA:88616
Developmental And Epileptic Encephalopathy 58
Inability to walk, Secondary microcephaly, Spastic diplegia, Stereotypy OMIM:617830
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Simplified gyral pattern, Hyperactivity, Microcephaly,... OMIM:613402
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memo... ORPHA:401901
Pick Disease Of Brain
Emotional blunting, Polyphagia, Apathy, Diminished motivation, Frontotemporal dementia, Irritabil... OMIM:172700
Mental Retardation, Autosomal Dominant 7
Incoordination, Hyperactivity, Gait disturbance, Ataxia, Intrauterine growth retardation, Failure... OMIM:614104
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Eyelid myoclonus... ORPHA:208447
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Clumsiness, Focal T2 hyperintense thalamic lesion, De... ORPHA:79264
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Self-injurious behavior, Hypoplasia of the corpus callosum, ... OMIM:618760
Hyperprolinemia, Type I
Stereotypy, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Ataxia, Agyria, Agenesis of corpus callosum, Lissenceph... OMIM:300067
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Polyphagia, Stereotypy, Obesity OMIM:613886
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand... ORPHA:397933
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Cortical dysplasia, Focal cortical dys... OMIM:610042
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Apathy, Dysphagia, Frontotemporal dementia, Emotional lability, Babinski sign, Stereotypy, Spasti... OMIM:612069
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Chorea, Eyelid myoclonus, Self-injurious behavior... ORPHA:178469
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity, Agenesis of corpus callosum OMIM:605899
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Chorea, Apathy, Basal ganglia calcification, Anxiety, Cognitive impairment,... OMIM:615483
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Growth delay, Oculomotor apraxia, Ataxia, Hyperactivity, M... OMIM:612716
Huntington Disease
Decreased body mass index, Dystonia, Weight loss, Memory impairment, Aggressive behavior, Chorea,... ORPHA:399
Intellectual Developmental Disorder, X-Linked 98
Poor eye contact, Growth delay, Secondary microcephaly, Ataxia, Stereotypy, Failure to thrive, Hy... OMIM:300912
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Dysphagia, Cere... ORPHA:85278
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Small for gestational age, Stereotypy, Short stature, Hyperactivity, Microcephaly, Re... ORPHA:352490
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Aggressive behavior, Broad-based gait... ORPHA:3077
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Anxiety, Failure to... DECIPHER:45
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Self-injurious behavior, Cerebral atrophy, Ster... OMIM:618917
Immunodeficiency 8
Hyperactivity OMIM:615401
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Abnormality of extrapyramidal moto... ORPHA:500180
Pandas
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... ORPHA:66624
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Impulsivity, Anxiety, Hyperactivity, Microce... OMIM:616977
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Microcephaly, De... OMIM:618160
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Stereotypy, Hyperactivity, Microcephaly, Spas... OMIM:618718
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Mild postnatal growth retardation, Stereotypy, Hyperactivity, M... ORPHA:530983
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Short stature, Hyperactivity ORPHA:85288
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Decreased response to growth hormone stimuation test, Failure to thrive, Hyp... OMIM:615286
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Corpus callosum atrophy, Cerebral white matter atrophy, Abnormal pyramidal s... ORPHA:369939
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia... ORPHA:309246
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic moveme... ORPHA:457240
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Cerebral calcification, ... OMIM:261600
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Aggressive behavior, Dementia, Corpus callosum atrophy, Ga... ORPHA:168491
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior, Growth delay, Dysplastic corpus callosum, Primary microcep... OMIM:618010
Potocki-Lupski Syndrome
Hyperactivity, Hypoplasia of the corpus callosum, Poor eye contact, Oral-pharyngeal dysphagia, Sm... OMIM:610883
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Dystonia, Type II lissencephaly, Spastic diplegia, Postnatal growth r... ORPHA:300570
2Q23.1 Microdeletion Syndrome
Polyphagia, Growth delay, Self-injurious behavior, Ataxia, Stereotypy, Short stature, Hyperactivi... ORPHA:228402
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... ORPHA:391307
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Dystonia, Aggressive behavior, Hypoplasia of the corpus callosum, G... OMIM:300352
Xq25 Microduplication Syndrome
Hypoplasia of the corpus callosum, Anxiety, Short stature, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hypoplasia of the corpus callosum, Anxiety, Short stature, Hyperactivity OMIM:300979
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Neurofibrillary tangles, Dementia, Abnormal social behavior, Hypertonia, Oculomotor apra... ORPHA:1020
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Decreased body weight, Short stature, Hyperactivity, Microcephaly OMIM:618342
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Emotional lability, Anxiety, Stereotypy, Failure to thrive, Cognitive impairmen... ORPHA:927
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Steppage gait, Emotional lability, Social and occup... ORPHA:98818
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Polyphagia, Apathy, Frontotemporal dementia, Lewy bodies, Cereb... OMIM:607485
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormal eatin... ORPHA:544254
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hypoplastic hippocampus, Hyperkinetic movements, Ataxia, Myo... OMIM:619317
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Happy demeanor, Cessation of head growth, Hyperactivity, Broad-based... ORPHA:411515
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypoplasia of the corpus callosum, Dysphagia, Secondary microcephaly, Ataxia, Abnormal ea... ORPHA:98794
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Failure to thrive, Hyperactivity, Progressive microcephaly, Broa... OMIM:617865
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Failure to thrive, Hyperactivity OMIM:618362
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy, Proportionate shor... OMIM:617044
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Anxiety, Stereotypy, Microcephaly, Attention deficit hyperactivity disorder OMIM:618906
Ck Syndrome
Slender build, Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity, Micr... ORPHA:251383
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Eye of the tiger anomaly of globus pallidus, Dysphagia, Gait disturbance, Toe ... ORPHA:216866
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Growth delay, Self-injurious behavior, Microcephaly, Motor deteri... ORPHA:79254
Cdkl5-Deficiency Disorder
Difficulty walking, Poor eye contact, Gait disturbance, Growth delay, Stereotypical hand wringing ORPHA:505652
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Hemiparesis, Emotional lability, Subcortical cerebral atrophy, A... ORPHA:1929
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Poor eye contact, Spasticity, Unsteady gait, Stereotyp... OMIM:617807
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Chorea, Self-injurious behavior, Hyp... ORPHA:485350
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Optic Atrophy 11
Hyperkinetic movements, Ataxia, Dysmetria, Short stature, Hyperactivity, Leukoencephalopathy, Mic... OMIM:617302
Angelman Syndrome Due To A Point Mutation
Dysphagia, Ataxia, Obesity, Abnormal eating behavior, Tongue thrusting, Recurrent hand flapping, ... ORPHA:411511
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Hypertonia, Primary microcephaly, Small for gestational age, M... ORPHA:289266
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Hypertonia, Growth de... OMIM:123450
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Poor eye contact, Self-injurious beha... ORPHA:449291
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Hyperactivity, Chorea, Hypert... OMIM:610217
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy, Microcephaly OMIM:619092
Coffin-Siris Syndrome 6
Tics, Periventricular leukomalacia, Anxiety, Short stature, Stereotypy, Attention deficit hyperac... OMIM:617808
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hypoplasia of the corpus callosum, Babinski sign, Hyperactivity, Secondary m... OMIM:617773
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal cerebral wh... OMIM:300354
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Ck Syndrome
Slender build, Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity, Micr... OMIM:300831
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Occipital cortical atrophy, Hypoplasia of the corpus callosum, Poor eye contac... ORPHA:411986
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Aggressive behavior, Hypoplasia of the corpus callosum, Growth delay, Spastic gai... OMIM:619121
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Short stature, Hyperactivity OMIM:300434
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Spasticity, Cortical dysplasia, Hyperacti... ORPHA:457260
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Microcephaly, Aggressive behavior, Hyperactivity OMIM:300558
Choreoacanthocytosis
Hair-pulling, Hypertonia, Head titubation, Weight loss, Emotional lability, Head-banging, Cerebra... ORPHA:2388
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Psychomotor deterioration, Spastic tetraparesis, Abnormal pyramidal s... ORPHA:35069
Angelman Syndrome
Inability to walk, Tremor, Aggressive behavior, Hyperactivity, Polyphagia, Dysphagia, Self-injuri... ORPHA:72
Rett Syndrome, Congenital Variant
Impaired social interactions, Dystonia, Apraxia, Pachygyria, Chorea, Hypoplasia of the corpus cal... OMIM:613454
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Short stature, Hyperactivity, Mi... ORPHA:52503
Alazami Syndrome
Self-mutilation, Postnatal growth retardation, Abnormal eating behavior, Anxiety, Stereotypy, Ste... ORPHA:319671
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Growth delay, Self-biting, Stereotypy, Hyperactivity, Microcephaly ORPHA:3306
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Growth delay, Stereotypy, Intrauterine growth retardation, Agene... ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Chorea, Dysphagia, Poor eye contact, Microcephaly, Ataxia, Decreased body weig... OMIM:300260
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, Pr... ORPHA:778
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Aggressive behavior, Poor eye contact, Growth de... OMIM:103050
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Hypoplasia of the corpus callosum, Abnormal social behavior, Anxiety, Attention... ORPHA:444002
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hypoplasia of the corpus callosum, Spasticity, Decreased body weight, Hypera... OMIM:300958
Smith-Magenis Syndrome
Self-mutilation, Head-banging, Increased body weight, Short stature, Stereotypy, Hyperactivity OMIM:182290
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Anxiety, Stereotypy, Involuntary movements, Suicidal ideation, Cognitive imp... ORPHA:98784
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Rhizomelia, Psychomotor deterioration, Dysphagia, Postnatal g... ORPHA:319182
Radio-Tartaglia Syndrome
Tremor, Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Poor eye contact, Ataxia, St... OMIM:619312
Alazami-Yuan Syndrome
Microcephaly, Short stature, Hyperactivity OMIM:617126
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Abnormal periventricular white matter morphology, Diff... ORPHA:139396
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Poor eye contact, Anxiety, Self-biting, Short stature, Microcephaly, Attenti... ORPHA:293939
Graves Disease, Susceptibility To, 1
Irritability, Polyphagia, Weight loss, Hyperactivity OMIM:275000
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Severe intrauterine growth retardation, Postnatal growth retardation, Truncal obes... ORPHA:73272
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Recurrent hand flapping, Spasticity OMIM:618859
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Overweight, Anxiety, Failure to thrive, Repetitive compulsive behavior, Attenti... ORPHA:391372
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Dementia, Punctate periventricular T2 hyperintense foci, Progressive gait a... ORPHA:309271
Myoclonic-Astatic Epilepsy
Impaired social interactions, Tremor, Abnormal emotion/affect behavior, Abnormal pyramidal sign, ... ORPHA:1942
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypoplasia of the corpus callosum, Hypertonia, Dysphagia, Secondary microcephaly, P... ORPHA:447997
Niemann-Pick Disease, Type C2
Dystonia, Neurofibrillary tangles, Dementia, Dysphagia, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia OMIM:618205
48,Xxyy Syndrome
Tremor, Ataxia, Anxiety, Stereotypy, Attention deficit hyperactivity disorder, Obesity ORPHA:10
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Dystonia, Clumsiness, Elevated circulating thyroid-stimulating hormon... ORPHA:209905
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Abnormality of extrapyramidal motor function, Hyperactivity, Rigidity, Spasticity, Akin... OMIM:234200
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Failur... ORPHA:261197
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Clumsiness, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abn... ORPHA:309263
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Anxiety, Stereotypy, Attention deficit hyperactivit... ORPHA:313892
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Overweight, Upper limb spasticity, Dysphagia, Ataxia, Intrauterine gro... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy, Recurrent hand flapping OMIM:617268
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Truncal obesity, Secondary microcephaly, Hyperactivity OMIM:613192
Sotos Syndrome 3
Hyperactivity OMIM:617169
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Aggressive behavior, Dementia, Paraparesis, Gait disturbance, Hemipar... ORPHA:43
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity OMIM:618504
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Tongue thrusting, Microcephaly, Diffuse cerebral atrophy, Dilation of la... ORPHA:77299
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Delayed puberty, Failure to thrive, Short stature, Ste... ORPHA:213
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Limb hypertonia, Exaggerat... OMIM:608643
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Self-injurious behavior, Gait disturbance, Failure to ... ORPHA:819
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Polymicrogyria, Stereotypy, Microcephaly, Dilation of lateral ... OMIM:617751
Helsmoortel-Van Der Aa Syndrome
Obesity, Short stature, Hyperactivity, Stereotypy, Decreased response to growth hormone stimuatio... OMIM:615873
22Q11.2 Duplication Syndrome
Growth delay, Anxiety, Stereotypy, Microcephaly, Attention deficit hyperactivity disorder ORPHA:1727
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Low frustration tolerance, Stereotypy, Thin corpus callosum, Attention deficit ... OMIM:619293
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Aggressive behavior, Hypertonia, Postnatal growth retardation, Unsteady gait, Fa... OMIM:212066
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Hypoplasia of the corpus callosum, Growth delay, Dysphagia, Secondary microcephaly, Ata... ORPHA:496641
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Tetraparesis, Stereotypy, Cerebral cortical atrophy ORPHA:85277
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Low f... ORPHA:646
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal hippocampus morphology, Short stature, Repetitive com... ORPHA:401777
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Basal ganglia gliosis, Cerebral white matter atrophy, Agenesis of corpus callos... ORPHA:3008
Citrullinemia Type Ii
Tremor, Decreased body mass index, Lethargy, Aggressive behavior, Abnormal eating behavior, Irrit... ORPHA:247585
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Tremor, Gait ataxia, Aggressive behavior, Primary microcephaly, Failure to thriv... ORPHA:476126
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608049
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Head-banging, Dysplastic corpus callosum, Stereotypy, Microcephaly, Attenti... OMIM:619103
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Clumsiness, Punctate periventricular T2 hyperintense foci, Progressive gai... ORPHA:309256
Leber Congenital Amaurosis 1
Growth delay, Eye poking OMIM:204000
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Self-injurious behavior, Poor eye contact, ... ORPHA:457351
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Spastic tetraparesis, Dysplastic corpus callosum, ... OMIM:619179
Pediatric-Onset Graves Disease
Tremor, Polyphagia, Hyperkinetic movements, Irritability, Failure to thrive, Hyperactivity, Intra... ORPHA:525731
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Postnatal growth retardation, Failure to thrive in infancy, Tongue thrus... ORPHA:261323
Developmental And Epileptic Encephalopathy 87
Hypertonia, Cerebral atrophy, Recurrent hand flapping OMIM:618916
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Self-injurious behavior, Ataxia, Short stature, Hyperactivity, Cognitive impairment, ... OMIM:601853
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Hypertonia, Self-injurious behavior, Ster... OMIM:618914
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Agenesis of corpus callosum, Stereotypy OMIM:613174
Hyperphosphatasia With Mental Retardation Syndrome 6
Microcephaly, Growth delay, Aggressive behavior, Hyperactivity OMIM:616809
Mental Retardation, Autosomal Dominant 40
Microcephaly, Gait ataxia, Stereotypy OMIM:616579
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Anxiety, Limb myoclonus, Attention deficit hyperactivity disorder ORPHA:64280
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Dystonia, Chorea, Poor eye contact, Hyperkinetic movements, Hemiballismus, Ataxi... ORPHA:522077
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Decreased response to growt... ORPHA:177907
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal periventricular white matter morphology, Hypertonia, Cortical dysplasia, Cerebral hypopl... ORPHA:468631
White-Sutton Syndrome
Incoordination, Aggressive behavior, Hypoplasia of the corpus callosum, Self-injurious behavior, ... ORPHA:468678
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Stereotypy, Speech apraxia ORPHA:529965
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Aggressive behavior, Abnormal cerebral white matter morphology, Ataxia, ... ORPHA:457279
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Cessation of head growth, Tongue thrusting, Secondary microcephaly, Gait imbalance, Br... ORPHA:98795
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Short stature, Babinski sign, St... OMIM:615802
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Frontal cortical atrophy, Stereotypy ORPHA:228384
Phelan-Mcdermid Syndrome
Impaired social interactions, Aggressive behavior, Abnormal periventricular white matter morpholo... OMIM:606232
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Aggressive behavior, Hyperactivity OMIM:615824
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity, Failure to thrive, Short stature, Intrauterine growth retardation... ORPHA:412035
7Q11.23 Microduplication Syndrome
Impaired social interactions, Aggressive behavior, Hyperactivity, Polyphagia, Growth delay, Self-... ORPHA:96121
Hyperlysinemia
Tremor, Clumsiness, Hyperactivity, Poor motor coordination, Dysphagia, Spastic tetraparesis, Spas... ORPHA:2203
Chromosome 2Q37 Deletion Syndrome
Aggressive behavior, Self-injurious behavior, Short stature, Hyperactivity, Obesity OMIM:600430
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Mental Retardation, Autosomal Dominant 34
Secondary microcephaly, Stereotypy, Broad-based gait OMIM:616351
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Growth delay, Agenesis of corpus callosum, Stereotypy ORPHA:261144
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
2Q37 Microdeletion Syndrome
Short stature, Stereotypy, Microcephaly, Attention deficit hyperactivity disorder, Obesity ORPHA:1001
Dilated Cardiomyopathy With Ataxia
Dystonia, Bilateral basal ganglia lesions, Growth delay, Ataxia, Action tremor, Lower limb spasti... ORPHA:66634
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Microcephaly, Aggressive behavior, Stereotypy OMIM:618825
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy, Proportionate shor... ORPHA:488618
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Failure to thrive, Hyperactivity OMIM:619239
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Ataxia, Stereotypy, Attention ... ORPHA:435638
Coffin-Siris Syndrome 7
Short stature, Hyperactivity OMIM:618027
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Impulsivity, Hyperactivit... ORPHA:8
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Hypoplastic hippocampus, Abnormal social behavior, Abnormal pyramidal sign, ... ORPHA:314647
Rubinstein-Taybi Syndrome 2
Microcephaly, Hyperactivity OMIM:613684
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Tics, Abnormal cerebral white matter morphology, Low frustration tolerance, Lowe... ORPHA:363686
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Gait disturbance, Cerebral cortical atrophy, Birth length less... ORPHA:464311
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... OMIM:612199
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Failure to thrive, Hyperactivity, Intrauterine growth retarda... ORPHA:485405
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Poor coordination, Spasticity, Ataxia, Anxiety, Hyperactivity, Obesity OMIM:618430
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Postnatal growth retardation, Small for gestational age, Short stature, Hype... OMIM:609625
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Polymicrogyr... ORPHA:500159
Developmental And Epileptic Encephalopathy 2
Inability to walk, Poor eye contact, Myoclonus, Stereotypy, Progressive microcephaly OMIM:300672
Kleefstra Syndrome
Self-mutilation, Aggressive behavior, Self-injurious behavior, Cerebral cortical atrophy, Short s... ORPHA:261494
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Hypoplasia of the corpus callosum, Gait disturbance, Anterior pituitary hypoplasia... ORPHA:464306
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Cachexia, Short stature, Hyperactivity, Microcephaly, Broad-based ga... ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Aggressive behavior, Emotional lability, Low frustration tolerance,... OMIM:309520
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microcephaly, Short stature, Hyperactivity OMIM:618089
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Microcephaly, Short stature, Ataxia ORPHA:2479
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Chromosome 15Q25 Deletion Syndrome
Growth delay, Attention deficit hyperactivity disorder, Short stature, Hyperactivity OMIM:614294
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Stereotypy ORPHA:397612
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Mild short stature, Hyperactivity, Obesity OMIM:614613
Mend Syndrome
Hypertonia, Short stature, Hyperactivity OMIM:300960
Kleefstra Syndrome 1
Aggressive behavior, Apathy, Stereotypy, Microcephaly, Obesity OMIM:610253
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, Cerebral cortical atrophy, Hyperactivity, Secon... OMIM:105830
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Incoordination, Spastic paraparesis, Aggressive behavior, Ataxia, Short stature... ORPHA:369891
19P13.3 Microduplication Syndrome
Growth delay, Self-injurious behavior, Cerebral atrophy, Irritability, Hyperactivity, Intrauterin... ORPHA:447980
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
48,Xxxy Syndrome
Tremor, Abnormal social behavior, Obesity, Irritability, Anxiety, Attention deficit hyperactivity... ORPHA:96263
Bainbridge-Ropers Syndrome
Inability to walk, Hypertonia, Abnormal cerebral white matter morphology, Recurrent hand flapping... ORPHA:352577
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Self-mutilation, Decreased body weight, Stereotypy, Intrauterine growth retardation, Attention de... OMIM:619005
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Hyperactivity, Hypoplasia of the corpus callosum, Gait disturbance, Decrease... ORPHA:363528
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Postnatal growth retardation, Spastic gait... OMIM:207800
Brooks-Wisniewski-Brown syndrome
Agenesis of corpus callosum, Poor coordination, Spastic diplegia, Cerebral atrophy, Small for ges... OMIM:300612
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Babinski sign, Hyperactivity, C... OMIM:609727
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Aggressive behavior, Hyperactivity ORPHA:85327
Glass Syndrome
Aggressive behavior, Happy demeanor, Short stature, Hyperactivity, Microcephaly, Broad-based gait OMIM:612313
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Polymicrogyria, Hyperactiv... ORPHA:457485
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Aggressive behavior, Hyperactivity, Growth delay, Self-injurious be... ORPHA:353281
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Rhizomelia, Spastic tetraparesis, Severe short stature, Di... ORPHA:239
Hydranencephaly
Dysgenesis of the thalamus, Lethargy, Abnormal corpus striatum morphology, Hypoplastic hippocampu... ORPHA:2177
Intellectual Disability, Birk-Barel Type
Dysphagia, Tongue fasciculations, Hyperactivity ORPHA:166108
Mucopolysaccharidosis, Type Iiic
Dysphagia, Motor deterioration, Hyperactivity OMIM:252930
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Disproportionate short stature, Hypoplasia of the corpus callosum, Hypertonia,... ORPHA:508533
Ogden Syndrome
Hypertonia, Cerebral atrophy, Postnatal growth retardation, Short stature, Stereotypy, Microcephaly OMIM:300855
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Episodic ataxia, Tremor, Dystonia, Pachygyria, Hypoplasia of ... ORPHA:1934
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
19P13.12 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Self-injurious behavior, Hyperactivity, Intrauterine growth re... ORPHA:254346
Seckel Syndrome 1
Pachygyria, Proportionate short stature, Postnatal growth retardation, Large basal ganglia, Hyper... OMIM:210600
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Hemiparesis, Tongue thrusting, Failure to... ORPHA:369950
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Hypotonia, Ataxia, And Delayed Development Syndrome
Gait ataxia, Truncal ataxia, Speech apraxia, Dysphagia, Ataxia, Stereotypy, Dysmetria, Short stat... OMIM:617330
Chromosome 13Q33-Q34 Deletion Syndrome
Aggressive behavior, Anencephaly, Small for gestational age, Short stature, Hyperactivity, Microc... OMIM:619148
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Hyperactivity, Cerebral... ORPHA:760
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, Aggressive behavior, Hyperactivity, Self-injurious behavior, Agorap... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, Aggressive behavior, Hyperactivity, Self-injurious behavior, Agorap... ORPHA:353277
Mend Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal social behavior, Limb hypertonia... ORPHA:401973
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Pachygyria, Hypoplasia of the corpus callosum, Stereotypy, Failure to thrive, Microc... ORPHA:513456
Fg Syndrome Type 1
Slender build, Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavior, Small pituita... ORPHA:93932
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aggressive behavior, Hypoplasia of the corpus callosum, Hypertonia, Gait disturbance, Dysphagia, ... ORPHA:268261
Norrie Disease
Hypertonia, Self-injurious behavior, Cerebral cortical atrophy, Delayed puberty, Abnormality of t... ORPHA:649
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity, Growth delay, Short sta... ORPHA:580
Tuberous Sclerosis Complex
Aggressive behavior, Abnormal social behavior, Self-injurious behavior, Cortical dysplasia, Anxie... ORPHA:805
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypoplasia of the corpus callosum, Poor coordination, Spastic diplegia, Cerebral atrophy, Small f... OMIM:309590
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss, Hyperactivity ORPHA:99819
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Oculomotor apraxia, Ataxia, Hemifacial spasm, Hyperactivity... OMIM:213300
1P36 Deletion Syndrome
Polyphagia, Dysphagia, Self-injurious behavior, Gait disturbance, Hemiplegia/hemiparesis, Cerebra... ORPHA:1606
Cardiofaciocutaneous Syndrome 1
Aplasia/Hypoplasia of the corpus callosum, Hypertonia, Oculomotor apraxia, Cerebral cortical atro... OMIM:115150
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Pain insensitivity, Hyperactivity, Emotional lability OMIM:256800
16P11.2P12.2 Microdeletion Syndrome
Tics, Hyperactivity, Short stature, Intrauterine growth retardation ORPHA:261211
Koolen-De Vries Syndrome
Hyperactivity, Hypoplasia of the corpus callosum, Small for gestational age, Anxiety, Failure to ... OMIM:610443
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Cerebral cortical atrophy, Unsteady gait, Hippocampal atrophy, Dysme... OMIM:614756
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
Bone Marrow Failure Syndrome 3
Hyperactivity, Failure to thrive, Short stature, Intrauterine growth retardation, Microcephaly OMIM:617052
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Hypertonia, Cerebral atrophy, Hyperintensity of cere... ORPHA:1675
Coffin-Siris Syndrome
Aggressive behavior, Oral aversion, Growth delay, Postnatal growth retardation, Hyperactivity, In... ORPHA:1465
Kinsship Syndrome
Spastic tetraparesis, Primary microcephaly, Myoclonus, Short stature, Failure to thrive, Stereoty... OMIM:619297
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Hypoplasia of the corpus callosum, Stereotypy, Microcephaly, Obesity OMIM:618653
Hallermann-Streiff Syndrome
Proportionate short stature, Small for gestational age, Hyperactivity, Microcephaly, Choreoathetosis OMIM:234100
Rubinstein-Taybi Syndrome 1
Self-mutilation, Hyperactivity, Growth delay, Poor coordination, Agoraphobia, Postnatal growth re... OMIM:180849
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity OMIM:300486
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Overfriendliness, Speech apraxia, Hypoplasia of the corpus callosum, Abnormal soci... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Overfriendliness, Speech apraxia, Hypoplasia of the corpus callosum, Abnormal soci... ORPHA:363958
Wolf-Hirschhorn Syndrome
Cavum septum pellucidum, Agenesis of corpus callosum, Absent septum pellucidum, Growth delay, Per... OMIM:194190
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Short stature, Stereotypy, Micro... ORPHA:508498
Mucopolysaccharidosis, Type Iiid
Dysphagia, Hyperactivity OMIM:252940
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Vocal cord paresis, Aggressive behavior, Dementia, Dysphagi... ORPHA:581
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Delayed puberty, Anxiety, Failure to thrive, Short stature, Stereotypy, ... ORPHA:534
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Involuntary movements, Abnormality of the anterior pituitary, Absent... ORPHA:438213
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Unsteady gait, Stereotypy OMIM:616682
Arboleda-Tham Syndrome
Lower limb hypertonia, Stereotypy, Intrauterine growth retardation, Microcephaly, Gait imbalance OMIM:616268
Witteveen-Kolk Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Growth delay, Decreased response to growt... OMIM:613406
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypoplasia of the corpus callosum, Failure to thrive, Short stature, Hyperactivity, Large for ges... OMIM:607721
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Pain insensitivity, Difficulty walking, Impair... ORPHA:642
Mowat-Wilson Syndrome
Happy demeanor, Spasticity, Hypoplasia of the corpus callosum, Ataxia, Abnormal hippocampus morph... ORPHA:2152
Distal Monosomy 12Q
Self-mutilation, Growth delay, Pituitary adenoma, Failure to thrive in infancy, Short stature, Hy... ORPHA:96149
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Hypoplasia of the corpus callosum, Dysphagia, Poor fine motor coordination, Ce... ORPHA:261537
Dubowitz Syndrome
Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Hyperactivity OMIM:223370
Smith-Lemli-Opitz Syndrome
Self-mutilation, Aggressive behavior, Hyperactivity, Hypoplasia of the corpus callosum, Hypertoni... OMIM:270400
Maternal Phenylketonuria
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity ORPHA:2209
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Failure to thrive, Short stature, Stereotypy, Periventricular cysts OMIM:309000
Distal Trisomy 17Q
Rhizomelia, Severe short stature, Short stature, Hyperactivity, Microcephaly ORPHA:3379
Monosomy 22Q13.3
Hair-pulling, Agenesis of corpus callosum, Hyperactivity, Obesity ORPHA:48652
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Growth delay, Poor eye conta... OMIM:301044
Nijmegen Breakage Syndrome
Intrauterine growth retardation, Microcephaly, Short stature, Hyperactivity OMIM:251260
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Poor fine motor coordination, Cerebral white matter hypoplasia, Happy demeanor, Spasticity, Hypop... ORPHA:261552
Monosomy 9Q22.3
Hyperactivity, Large for gestational age, Hydrocephalus, Calcification of falx cerebri ORPHA:77301
Coffin-Siris Syndrome 12
Hippocampal atrophy, Failure to thrive, Short stature, Stereotypy, Microcephaly OMIM:619325
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Hyperactivity ORPHA:457284
Acrodysostosis With Multiple Hormone Resistance
Mild short stature, Obesity, Hyperactivity, Intrauterine growth retardation, Decreased response t... ORPHA:280651
Williams Syndrome
Overfriendliness, Tremor, Abnormality of extrapyramidal motor function, Abnormal social behavior,... ORPHA:904
Trichotillomania
Hair-pulling OMIM:613229
8Q24.3 Microdeletion Syndrome
Hyperactivity, Tics, Hypoplasia of the corpus callosum, Dysphagia, Poor eye contact, Ectopic post... ORPHA:508488
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Lower limb hypertonia, Short stature, Hyperactivity, Microcephaly, Obesity OMIM:309580
Histidinemia
Hyperactivity ORPHA:2157

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_Bact_P) Targeting vectors
Brinp1tm22(L1L2_gt2) Targeting vectors

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