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Gene: Brinp1 MGI:1928478

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Brinp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Brinp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
22q11.2 distal deletion syndrome
Short stature, Small for gestational age DECIPHER:72
Smith-Magenis syndrome
Motor stereotypy, Short stature, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Short stature OMIM:300271
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity, Spasticity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity, Short stature OMIM:616311
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Self-mutilation, Short stature, Truncal ataxia, Unsteady... OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Short stature, Pica, Spastic diplegia, Choreoathetosis... OMIM:617270
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination, Short stat... OMIM:309548
Fraxe Intellectual Disability
Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Short stature, Ag... ORPHA:100973
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Poor eye contact, Decreased body weight, Cognitive impairmen... ORPHA:561854
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, I... OMIM:616657
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron morphology, Mo... ORPHA:412066
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions, Inability to walk OMIM:606053
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability OMIM:617393
Intellectual Developmental Disorder, Autosomal Recessive 37
Aggressive behavior, Hyperactivity, Spasticity OMIM:615493
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... OMIM:613670
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Poor eye contact, Broad-based gait, ... OMIM:617695
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... OMIM:609425
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Decreased body weight, Hyperactivity, Short stature OMIM:608747
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Involuntary movem... OMIM:617820
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Frontotemporal dementia, Abulia, Mental deterioration, Memory impairmen... ORPHA:275864
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Short stature OMIM:617862
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... ORPHA:248111
Immunodeficiency 8
Hyperactivity OMIM:615401
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tr... OMIM:615924
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Failure to thrive, Hyperactivity, Growth delay, Agenesis of corpus callosum, Tetraplegia OMIM:274270
Pick Disease Of Brain
Motor stereotypy, Apathy, Diminished motivation, Emotional blunting, Polyphagia, Frontotemporal d... OMIM:172700
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Short stature, Babinski sign, Spastic dysarthria, Difficulty walking, Progressi... ORPHA:280763
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Hyperactivity, Small for gestational age, Short stature... OMIM:614104
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Aggressive behavior, Paroxysmal dyski... OMIM:619150
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Short st... ORPHA:3077
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia, Intrauterine growth r... OMIM:615282
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Poor eye contact, Hand apraxia, Pill-rolling tremor, Panic... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Hyperactivity, Aggressive behavior, Short stature OMIM:615541
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Memory impairment, Gait disturbance... OMIM:600795
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Poor eye contact, Hyperactivity, Tremor, Aggressive behavior, Spasticity OMIM:300983
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... ORPHA:391417
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... ORPHA:168782
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity, Polyphagia, Poor eye contact OMIM:613886
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Hyperactivity, Small for gestational age ORPHA:85288
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Glycine Encephalopathy
Hyperactivity, Myoclonus, Aggressive behavior, Agenesis of corpus callosum, Irritability OMIM:605899
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Hyperactivity, Hemiparesis, Aggressive behavior, Spastic tetraparesis OMIM:604317
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Spasticity, Emotional lability, Dysphagia, Frontotempora... OMIM:612069
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability ORPHA:500545
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Short stature, Cerebral p... ORPHA:352490
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity OMIM:618718
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Short stature, Aggressive behavior, Spasticity, Agenesis of cor... OMIM:615286
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Slender build, Recurrent hand flapping, Hyperactivity, Myoclonus, Cerebral pals... OMIM:617600
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pica, Anxiety, Pronoun reve... OMIM:615032
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Hyperactivity, Progressive language deterioration, Aggressive behavior,... OMIM:610042
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... ORPHA:79264
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Growth delay, Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oc... OMIM:612716
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Impaired social interactions, Hyperkinetic movements, Stereotypical hand... ORPHA:397933
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Decreased body weight, Hyperactivity, Short stature, Tremor, Attention deficit ... OMIM:618342
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Mild postnatal growth retardation, Abnormal social behav... ORPHA:530983
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea OMIM:618760
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Xq28 (MECP2) duplication
Motor stereotypy, Failure to thrive, Inability to walk, Anxiety, Progressive spasticity, Gait ata... DECIPHER:45
Potocki-Lupski Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Poor eye contact, Small for gestational age, ... OMIM:610883
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperactivity, Short stature, Polyphagia, Grow... ORPHA:228402
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Myoclonus, Falls, Aggressive behavior ORPHA:2382
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Spasticity, Chorea ORPHA:88616
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Chorea, Progressive extrapyramidal movement disor... ORPHA:382
Cdkl5-Deficiency Disorder
Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Growth delay ORPHA:505652
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Frequent falls,... ORPHA:98818
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioration, Self-mutilation, Men... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Hand-leading gestures, Recurrent hand flapping, Attention deficit hyperactivit... OMIM:617788
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... ORPHA:444002
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Proportionate short stature, Self-injurious behavior, Attention deficit hyperac... OMIM:617044
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hypertonia, Happy demeanor, Failure to thrive, Hyperactivity, Tics, Unsteady gait OMIM:617865
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Failure to thrive, Ataxia, Recurrent hand flapping, Poor eye contact, Stereotyp... OMIM:300912
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Cortical myoclonus, Inability to walk, Hyperactivity, Mental deteriorat... ORPHA:168491
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Hyperactivity, M... ORPHA:228360
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Irritability, Poor coordination OMIM:619717
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Short stature, Anxiety, Hyperkinetic movements, Gait disturban... ORPHA:457240
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Polyphagia, Obesity ORPHA:411515
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Short stature ORPHA:521258
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Conspicuously happy disposition, Recurrent hand flapping, S... OMIM:300986
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Recurrent hand flapping, Poor eye contact, Hyperactivi... ORPHA:449291
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Dysphagia ORPHA:85278
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... OMIM:618917
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300495
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Bradykinesia, Hyperactivity, Memory impairment, Self-biting, Nail-biting... OMIM:619827
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, ... ORPHA:500180
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Abnormal eating behavior, Gait disturbance, T... ORPHA:544254
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Abnormal pyramidal sign, Aggressive behavior, Intrauterine grow... ORPHA:369939
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Broad-based gait, Failure to thrive, Short stature, Gait disturbanc... OMIM:300352
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Hyperactivity,... ORPHA:98794
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Poor coordination, Abnormal social behavior, Abnormality of extra... ORPHA:255
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Abnormal social behavior, Anxiety, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Conspicuously happy disposition, Overfriendliness, Hyperactivity, S... OMIM:123450
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Poor eye contact, Self-biting OMIM:300624
Bilateral Generalized Polymicrogyria
Motor stereotypy, Growth delay, Self-injurious behavior, Short stature, Lateral ventricle dilatat... ORPHA:208447
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Short stature, Aggressive behavior, Irritability ORPHA:391307
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Truncal obesity OMIM:613192
Coffin-Siris Syndrome 6
Motor stereotypy, Short stature, Anxiety, Tics, Attention deficit hyperactivity disorder OMIM:617808
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Inability to walk, Poor eye contact, Decreased body weight, Anxiety, Ri... OMIM:300260
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, Hyperactivity, Self-mutilation, Short stature, Increased body weight OMIM:182290
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Myoclonus, Ab... ORPHA:363400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Failure to thrive, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional... ORPHA:927
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Cognitive impairment, Anxiety, Suicidal ideation, Involuntary movements, Attent... ORPHA:98784
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior OMIM:619690
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonu... OMIM:619580
Radio-Tartaglia Syndrome
Motor stereotypy, Gait imbalance, Ataxia, Poor eye contact, Tremor, Attention deficit hyperactivi... OMIM:619312
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Difficulty walking, Gait ataxia, Spasticity, ... OMIM:617807
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity, Short stature OMIM:300979
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Self-biting, Aggressive behavior, Growth delay ORPHA:3306
Optic Atrophy 11
Ataxia, Hyperactivity, Dysmetria, Short stature, Hyperkinetic movements OMIM:617302
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Growth delay, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyper... OMIM:619121
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Anxiety, Oromotor apraxia, Attention deficit hyperactivity disorder, Spasticit... ORPHA:391372
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Hyperactivity, Small for gestational age, Pica, Anxiety, Overweight, Irritability OMIM:617796
Shukla-Vernon Syndrome
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder OMIM:301029
Rauch-Steindl Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Short stature, Anxiety, Aggressive behavior, ... OMIM:619695
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Cognitive impairment, Hemiparesis, Memory impairment, Involunta... ORPHA:1929
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Tongue thrusti... ORPHA:411511
Alazami Syndrome
Motor stereotypy, Self-mutilation, Anxiety, Stereotypical hand wringing, Abnormal eating behavior... ORPHA:319671
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Hyperkinetic movements, Aggressive behavior OMIM:271980
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 26
Hypertonia, Hyperactivity, Small for gestational age, Short stature, Cerebral palsy, Intrauterine... OMIM:615834
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping OMIM:620021
4Q21 Microdeletion Syndrome
Motor stereotypy, Self-injurious behavior, Tremor, Growth delay, Intrauterine growth retardation,... ORPHA:238750
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Agg... ORPHA:313892
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Recurrent hand flapping, Self-injuri... ORPHA:72
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Short stature, Chorea, Lateral ventricle dilatation, S... ORPHA:178469
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Semantic dementia, Abnormal social behavior, Myoclonus, Parkinsonism, Memory ... ORPHA:1020
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618825
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Anxiety, Tremor, Attention deficit hyperactivity disorder, Obesity ORPHA:10
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Hyperactivity, Myoclonus, Anxiety, Chorea... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics OMIM:619927
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Hyperactivity, Small for gestational a... ORPHA:73272
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact ORPHA:411986
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait OMIM:618205
Rett Syndrome
Short stature, Gait apraxia, Cachexia, Stereotypical hand wringing, Truncal ataxia, Motor deterio... OMIM:312750
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Poor eye contact, Hyperactivity, Opisthotonus, Self-mutilation... OMIM:103050
Galloway-Mowat Syndrome 6
Motor stereotypy, Decreased body weight, Short stature, Growth delay, Intrauterine growth retarda... OMIM:618347
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hyperactivity, Cognitive impairment, Hemiparesis, Gait disturbance, Prog... ORPHA:43
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity, Short stature, Anxiety, Aggressive behavior OMIM:300558
Distal Xq28 Microduplication Syndrome
Poor eye contact, Stereotypical body rocking, Tip-toe gait, Short stature, Anxiety, Self-biting, ... ORPHA:293939
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Short stature, Chorea, Athetosis, Aggressive behavior, Dysphagia, Agene... OMIM:619435
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Hyperactivity, Self-mutilation, Short stature, Cachexia, Chorea, Athetosis ORPHA:52503
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Mental deterior... ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Decreased body weight, Hyperactivity, Aggressive behavior, Spasticity OMIM:300958
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Lack of peer re... ORPHA:1942
Wiedemann-Steiner Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Short stature, Anxiety, Rhizomelia, Psychomot... ORPHA:319182
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Anxiety, Spasticity, Aggressive behavior OMIM:619467
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Inability to walk, Postnatal growth retardation, Spastic diplegia,... ORPHA:300570
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Mental deterioration, Abnormal pyramidal sign, Progressive spasticity, Gai... ORPHA:35069
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor, Growth delay OMIM:619428
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Failure to thrive, Speech apraxia, Choreoathetosis, Attention deficit hyperacti... ORPHA:261197
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit h... OMIM:619680
Cystinosis
Motor stereotypy, Failure to thrive, Polydipsia, Short stature, Abnormal pyramidal sign, Gait dis... ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hyperactivity, Short stature, Tremor, Gait ataxia, Aggressive behavior, Delaye... OMIM:300354
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdi... OMIM:610217
White-Sutton Syndrome
Motor stereotypy, Overfriendliness, Failure to thrive, Self-injurious behavior, Hyperactivity, Sh... OMIM:616364
Choreoacanthocytosis
Mental deterioration, Chorea, Falls, Emotional lability, Weight loss, Slurred speech, Hypertonia,... ORPHA:2388
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Short stature, Small for gestational age, Myoclonus, Stereotypical hand wringing ORPHA:289266
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Aggressive behavior, Hyperactivity, Spasticity ORPHA:457260
Smith-Magenis Syndrome
Motor stereotypy, Self-injurious behavior, Short stature, Anxiety, Gait disturbance, Attention de... ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Intrauterine growth retardation, Hyperactivity OMIM:617751
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Brain-Lung-Thyroid Syndrome
Failure to thrive, Ataxia, Clumsiness, Hyperactivity, Growth delay, Short stature, Intention trem... ORPHA:209905
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Short... ORPHA:309246
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Polyphagia, Repetiti... OMIM:607485
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:615637
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Limb myoclonus, Attention deficit hyperactivity disorder, Punding ORPHA:64280
Rett Syndrome
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... ORPHA:778
22Q11.2 Duplication Syndrome
Motor stereotypy, Growth delay, Anxiety, Attention deficit hyperactivity disorder ORPHA:1727
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tol... OMIM:619293
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Hyperactivity, Mental deterioration, Babinski sign... OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance OMIM:300486
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Obesity, Hyperactivity, Short stature OMIM:615873
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hyperactivity, Irritability, Myoclonic spasms, Clonus, Dysphagia, L... ORPHA:447997
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Head-banging, Dysplastic corpus callosum, Partial agenesis of the corpus callos... OMIM:619103
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Self-injurious behavior, Stereotypical body rocking, Short stature, Tongue thrusti... ORPHA:261323
Coffin-Siris Syndrome 7
Motor stereotypy, Hyperactivity, Short stature OMIM:618027
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Self-injurious behavior, Tremor, Attention deficit hyperactivity disorder, Aggr... OMIM:617061
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Hyperactivity, Chorea, Frequent falls, Tremor, Difficulty walking, Choreoathe... OMIM:615673
Rett Syndrome, Congenital Variant
Motor stereotypy, Poor eye contact, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia, Imp... OMIM:613454
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Intrauterine growth retardation, Ataxia, Inability to walk, Decreased body weig... OMIM:619229
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Failure to thrive, Self-mutilation, Short stature, Aggressive behav... OMIM:212066
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Self-mutilation, Short stature, Obesity, Intrauterine growth re... ORPHA:412035
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Self-injurious behavior, Short stature, Aggressive behavior, Obesity OMIM:600430
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Agenesis of corpus callosum, Small for gestational age OMIM:613174
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Self-mutilation, Tremor, Gait ataxia, Attention deficit hype... ORPHA:476126
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk OMIM:619877
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Short stature OMIM:601853
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Hyperactivity, Hyperkinetic movements, Tremor, Polyphagia, Emotion... ORPHA:525731
Citrullinemia Type Ii
Hyperactivity, Delayed menarche, Memory impairment, Abnormal eating behavior, Decreased body mass... ORPHA:247585
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Transketolase Deficiency
Motor stereotypy, Proportionate short stature, Self-injurious behavior, Attention deficit hyperac... ORPHA:488618
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... ORPHA:309263
Leber Congenital Amaurosis 1
Growth delay, Eye poking OMIM:204000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Falls, Tics, Spasticity, Emotional lability, Impaired social interactio... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Recurrent hand flapping, Self-injurious behavior, Poor eye contact, Short stature, Anxiet... OMIM:156200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Hyperactivity, Poor coordination, Anxiety, Spasticity, Aggressive behavior, Obesity OMIM:618430
Optic Atrophy-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior, Short stature ORPHA:401777
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Postnatal growth retardation, Speech apraxia ORPHA:529965
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Short stature, Anxiety,... ORPHA:177907
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Hyperactivity, Anxiety, Nail-biting, Attention deficit hyperactivity disorder,... ORPHA:485405
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Decreased body weight, Hyperactivity, Short stature, Babinski sign, Shuffling ... OMIM:300534
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Failure to thrive, Hyperactivity, Aggressive behavior, Intrauterine growth retardation OMIM:615824
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Failure to thrive, Short stature, Babinski sign, Spasticity, Agenes... OMIM:615802
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Mild short stature, Hyperactivity, Intrauterine growth retardation OMIM:614613
7Q11.23 Microduplication Syndrome
Motor stereotypy, Growth delay, Self-injurious behavior, Hyperactivity, Dysmetria, Short stature,... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Incoordination, Overfriendliness, Gait ataxia OMIM:616579
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Failure to thrive, Head-banging, Self-injurious behavior, Short stature, Attent... OMIM:619575
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Dysphagia, Motor stereotypy, Inability to walk OMIM:617802
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
Hyperlysinemia
Failure to thrive, Clumsiness, Hyperactivity, Opisthotonus, Dysmetria, Tip-toe gait, Spastic dipl... ORPHA:2203
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... ORPHA:522077
2Q37 Microdeletion Syndrome
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder, Short stature ORPHA:1001
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Obesity, Stereotypical hand wringing OMIM:619854
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Lateral ventricle dilatation, Aggressive behavior, Unsteady gait, Low f... ORPHA:457279
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Babinski sign, Spastic paraplegia, Clonus, Upper limb spasticity, Lower limb spast... OMIM:609727
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Spasticity, Tongue thrusting ORPHA:77299
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Dysplastic corpus callosum, Short stature, Stereotypical hand wringing, Spasti... OMIM:619179
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... ORPHA:309256
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Tremor, Attention deficit hyperactivity disorder, Abnormal agg... ORPHA:96263
Argininemia
Hyperactivity, Postnatal growth retardation, Spastic paraparesis, Progressive spastic quadriplegi... OMIM:207800
White-Sutton Syndrome
Motor stereotypy, Hyperactivity, Self-injurious behavior, Short stature, Aggressive behavior, Inc... ORPHA:468678
Intellectual Developmental Disorder, Autosomal Dominant 22
Growth delay, Short stature, Stereotypical hand wringing, Proportionate short stature, Intrauteri... OMIM:612337
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Growth delay, Agenesis of corpus callosum ORPHA:261144
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Poor eye contact, Short stature, Unilateral vocal cord paralysis, Attention def... OMIM:301030
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Dysphagia, Growth delay,... ORPHA:496641
Phelan-Mcdermid Syndrome
Motor stereotypy, Broad-based gait, Poor eye contact, Tongue thrusting, Aggressive behavior, Unst... OMIM:606232
D-Glyceric Aciduria
Failure to thrive, Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia, Gr... OMIM:220120
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Failure to thrive, Inability to walk, Self-injurious behavior, Recu... OMIM:615485
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dysphagia, Dementia OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Decreased body weight, Self-mutilation, Attention deficit hyperactivity disorde... OMIM:619005
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Abnormal social behavior, Mental deterioration, Chorea, Tremor, Lower limb spa... ORPHA:646
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Self-injurious behavior, Cerebral palsy, Aggressive behavior OMIM:618914
Pyruvate Carboxylase Deficiency
Failure to thrive, Ataxia, Apathy, Recurrent hand flapping, Poor eye contact, Tip-toe gait, Abnor... ORPHA:3008
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Limb hypertonia, ... ORPHA:457351
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hyperactivity, Short stature, Cachexia, Tremor, Aggressive behavior, Obesity ORPHA:85293
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder ORPHA:435638
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Broad-based gait, Gait imbalance, Tongue thrusting ORPHA:98795
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Broad-based gait OMIM:616351
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior ORPHA:397612
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Impaired social interactions, Agenesis of... OMIM:309520
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Self-mutilation, Short stature, Aggressive behavior, O... ORPHA:261494
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Birth length less than 3... ORPHA:464311
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Failure to thrive, Hyperactivity, Self-injurious behavior, Anxiety, Partial age... OMIM:619512
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact OMIM:300672
Mucopolysaccharidosis, Type Iiic
Dysphagia, Motor deterioration, Hyperactivity OMIM:252930
Angelman Syndrome
Broad-based gait, Clumsiness, Hyperactivity, Progressive gait ataxia, Limb tremor, Obesity OMIM:105830
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Hand tremor, Small for gestational age ORPHA:424
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Short stature, Anx... ORPHA:464306
Kleefstra Syndrome 1
Motor stereotypy, Obesity, Apathy, Aggressive behavior OMIM:610253
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia, Short stature ORPHA:2479
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Hyperactivity, Spastic paraparesis, Cerebral palsy, Spasticity, Abnormal cent... ORPHA:760
Dyggve-Melchior-Clausen Disease
Failure to thrive, Inability to walk, Hyperactivity, Severe short stature, Disproportionate short... ORPHA:239
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Agoraphobia, Social and occupational deterioration, Abnormal fear/anxiety-relat... ORPHA:353281
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Self-injurious behavior, Severe short stature, Severe failure to th... ORPHA:468631
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Repetitive compulsive behavior, Growth delay, Lower limb spasticity, Intra... ORPHA:66634
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Ataxia, Poor gross motor coordination, Hyperactivity, Hand tr... OMIM:614756
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Myoclonus, Anxiety, Rigidity, No social interaction, Chorea, Memo... ORPHA:217253
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Hand tremor ORPHA:99819
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Mucopolysaccharidosis Type 2
Motor stereotypy, Hyperactivity, Cognitive impairment, Mental deterioration, Short stature, Progr... ORPHA:580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Agoraphobia, Social and occupational deterioration, Abnormal fear/anxiety-relat... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Agoraphobia, Social and occupational deterioration, Abnormal fear/anxiety-relat... ORPHA:353277
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus, No social interaction, Disproporti... ORPHA:508533
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Broad-based gait, Ataxia, Dysmetria, Short stature, Truncal ataxia, Speech apra... OMIM:617330
Mend Syndrome
Failure to thrive, Hyperactivity, Abnormal social behavior, Short stature, Limb hypertonia, Aggre... ORPHA:401973
Fg Syndrome Type 1
Broad-based gait, Slender build, Short stature, Abnormal social behavior, Attention deficit hyper... ORPHA:93932
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior OMIM:610954
Bainbridge-Ropers Syndrome
Hypertonia, Inability to walk, Recurrent hand flapping ORPHA:352577
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Failure to thrive, Ataxia, Tip-toe gait, Self-mutilation, Short stature, Spastic diplegia, Cerebr... OMIM:619950
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Postnatal growth retardation, Growth delay, Spasticity OMIM:301040
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia, Dysphagia OMIM:619777
1P36 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hemiplegia/hemiparesis, Self-injurious behavior, Short statu... ORPHA:1606
Legius Syndrome
Attention deficit hyperactivity disorder, Short stature, Hyperactivity, Cognitive impairment ORPHA:137605
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity, Small for gestational age, Poor coordination, Spastic diplegia, ... OMIM:309590
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Failure to thrive, Hemiparesis, Tongue thrusting, Aggressive behavior, Obesity ORPHA:369950
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Kinsship Syndrome
Motor stereotypy, Failure to thrive, Short stature, Myoclonus, Spastic tetraparesis OMIM:619297
Norrie Disease
Motor stereotypy, Hypertonia, Failure to thrive, Self-injurious behavior, Cachexia, Anxiety, Atte... ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Hypertonia, Ataxia, Small for gestational age, Short stature, Anxiety, Stereoty... ORPHA:268261
Dpagt1-Cdg
Hypertonia, Ataxia, Head-banging, Inability to walk, Akinesia, Stereotypical body rocking, Failur... ORPHA:86309
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Tuberous Sclerosis Complex
Self-injurious behavior, Hyperactivity, Abnormal social behavior, Anxiety, Attention deficit hype... ORPHA:805
Cardiofaciocutaneous Syndrome 1
Hypertonia, Failure to thrive, Short stature, Tongue thrusting, Oculomotor apraxia OMIM:115150
Early Infantile Epileptic Encephalopathy
Failure to thrive, Self-injurious behavior, Hyperactivity, Myoclonus, Tremor, Choreoathetosis, Sp... ORPHA:1934
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Broad-based gait, Failure to thrive, Stereotypical body rocking, Gait ataxia, R... ORPHA:513456
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Failure to thrive, Self-injurious behavior, Short stature, Anxiety, Attention d... ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Obesity, Aggressive behavior OMIM:301066
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Slender build, Abnormal social behavior, Small for gestational age, Anxiety, Sp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Slender build, Abnormal social behavior, Small for gestational age, Anxiety, Sp... ORPHA:363958
Monosomy 22Q13.3
Obesity, Hyperactivity, Agenesis of corpus callosum, Hair-pulling ORPHA:48652
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Postnatal growth retardation, Short stature, Dysphagia... OMIM:300855
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Obesity, Difficulty walking OMIM:618653
Arboleda-Tham Syndrome
Motor stereotypy, Gait imbalance, Lower limb hypertonia, Dysphagia, Growth delay, Intrauterine gr... OMIM:616268
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Agenesis of corpus callosum, Short stature ORPHA:508498
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, Poor eye contact, Spastic tetraparesis, Growth delay, Intrauterine ... OMIM:301044
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or violen... ORPHA:1675
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Exaggerated startle response, Short stature, Attention deficit hyperactivity di... OMIM:619522
Wolf-Hirschhorn Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Severe postnatal growth retardati... OMIM:194190
Mgat2-Cdg
Failure to thrive, Stereotypical hand wringing ORPHA:79329
Primrose Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Short stature, Anxiety, Truncal obesity, Tics,... OMIM:259050
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Failure to thrive, Aggressive behavior, Short stature OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Unsteady gait OMIM:616682
Mowat-Wilson Syndrome
Motor stereotypy, Happy demeanor, Ataxia, Broad-based gait, Inability to walk, Decreased body wei... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Short stature, Myoclonus, Ster... ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Happy demeanor, Broad-based gait, Inability to walk, Failure to thrive, Poor fi... ORPHA:261537
Coffin-Siris Syndrome 12
Motor stereotypy, Failure to thrive, Short stature OMIM:619325
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Short stature, Anx... ORPHA:904
Trichotillomania
Hair-pulling OMIM:613229
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Happy demeanor, Broad-based gait, Inability to walk, Failure to thrive, Poor fi... ORPHA:261552
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Failure to thrive, Stereotypical body rocking, Tip-toe gait, Falls, Dysphagia, ... OMIM:619503

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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