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Gene: Tafa3 MGI:3046463

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Gene Summary

Name:
TAFA chemokine like family member 3
Synonyms:
Tafa-3,  Tafa3,  Sam3,  7530404M11Rik,  Fam19a3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Tafa3em1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Tafa3em1(IMPC)Mbp HOM Early adult 3.98×10-06
preweaning lethality, incomplete penetrance Tafa3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal bone structure Tafa3em1(IMPC)Mbp HOM Early adult 1.53×10-12

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tafa3 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 Tafa3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Aggressive behavior, Spasticity, Impaired social interactions, Slurred speech OMIM:618103
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Autism, Susceptibility To, X-Linked 4
Impulsivity, Attention deficit hyperactivity disorder, Aggressive behavior, Motor tics OMIM:300830
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior 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
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior 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 Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Gilles De La Tourette Syndrome
Self-mutilation, Phonic tics, Attention deficit hyperactivity disorder, Aggressive behavior, Moto... OMIM:137580
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions OMIM:606053
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia, Aggressive behavior OMIM:618221
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Pick Disease Of Brain
Motor stereotypy, Apathy, Emotional blunting, Disinhibition, Inappropriate laughter, Diminished m... OMIM:172700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... ORPHA:401901
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Stereotypical body rocking, Poor coordination, Recurrent hand flappin... OMIM:309548
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... ORPHA:66624
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... ORPHA:36899
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Aggr... ORPHA:100973
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300495
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Myoclonus, Anxiety, Difficulty walking, Attention deficit hyperact... OMIM:619191
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Unsteady gait, Self-mutilation OMIM:614063
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Self-injurious behavior, Poor eye contact, Involuntary movements, Spasticity, I... OMIM:617820
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor OMIM:159900
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Aggressive behavior, Inappropriate la... OMIM:619150
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Inappropriate behavior, Gait disturbanc... ORPHA:275864
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination OMIM:603218
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics OMIM:615483
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea ORPHA:494541
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Anxiety, Poor eye contact OMIM:619651
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Gait distur... OMIM:600795
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Anxiety, Attention deficit hyperactivity disorder, Bradykinesia OMIM:618878
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability OMIM:612069
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Difficulty walking, Spasticity, Irritability OMIM:617393
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Irritability OMIM:606438
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea OMIM:618760
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Poor eye contact OMIM:613886
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... OMIM:604326
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
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
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity OMIM:605909
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Clumsiness, Poor eye contact, Gait ataxia, Involuntary movements, Aggressive behavior, Emotional ... ORPHA:468620
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Shuffling gait, Inert... ORPHA:412066
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Anxiety, Motor stereotypy, Impaired social interactions ORPHA:168782
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... ORPHA:3077
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior OMIM:609425
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity, ... OMIM:618718
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Atypical Rett Syndrome
Poor eye contact, Inappropriate crying, Hand apraxia, Pill-rolling tremor, Panic attack, Stereoty... ORPHA:3095
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Developmental And Epileptic Encephalopathy 15
Poor eye contact, Irritability OMIM:615006
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Impulsivity, Depression, Chorea, Spasticity ORPHA:88616
Dopa-Responsive Dystonia
Agoraphobia, Abnormal social behavior, Depression, Poor coordination, Anxiety, Panic attack, Park... ORPHA:255
Foxg1 Syndrome
Motor stereotypy, Poor eye contact, Inappropriate crying, Myoclonus, Hyperkinetic movements, Ster... ORPHA:561854
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Anxiety, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia,... OMIM:618093
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... OMIM:618917
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Irritability ORPHA:500545
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Tremor, Choreoathetosis ORPHA:391417
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Hyperactivity, Aggressive behavior OMIM:615541
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal OMIM:615032
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Motor stereotypy, Limb ataxia, Poor ... OMIM:617695
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Hyperactivity, Cerebral palsy, Anxiety, Myoclonus, Cho... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Hyperactivity, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability OMIM:619717
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Punding ORPHA:64280
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Disinhibition, Apraxia, Oc... ORPHA:1020
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Vulto-Van Silfhout-De Vries Syndrome
Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Cdkl5-Deficiency Disorder
Inappropriate laughter, Poor eye contact, Stereotypical hand wringing ORPHA:505652
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior OMIM:619690
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... ORPHA:280763
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:617044
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Impulsivity, Recurrent hand flapping... OMIM:619580
Developmental And Epileptic Encephalopathy 67
Poor eye contact, Athetosis OMIM:618141
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Depression,... ORPHA:449291
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Aggressive behavior, Spasticity, Impaired social interactions OMIM:610042
Xq28 (MECP2) duplication
Motor stereotypy, Inability to walk, Depression, Anxiety, Progressive spasticity, Gait ataxia DECIPHER:45
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Depression, Anxiety, Suicidal ideation, Involuntary movements, Attention defici... ORPHA:98784
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... ORPHA:457240
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Hyperactivity, Stereotypical hand wringing, Incoordinat... OMIM:614104
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Depression, Myoclonus, Anxiety OMIM:616398
Unilateral Focal Polymicrogyria
Poor fine motor coordination, Spastic hemiparesis, Abnormal nonverbal communicative behavior, Hem... ORPHA:268947
Perry Syndrome
Akinesia, Apathy, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidi... OMIM:168605
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Depression, Anxie... ORPHA:79264
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping, Spasticity OMIM:618859
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:618504
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:615637
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Agg... ORPHA:313892
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Freq... ORPHA:309263
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... ORPHA:3198
Shukla-Vernon Syndrome
Broad-based gait, Motor stereotypy, Attention deficit hyperactivity disorder OMIM:301029
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Gait ataxia, Spasticity OMIM:617807
Snijders Blok-Campeau Syndrome
Broad-based gait, Speech apraxia, Motor stereotypy, Unsteady gait OMIM:618205
Fragile X Syndrome
Poor eye contact, Recurrent hand flapping, Self-biting OMIM:300624
Rett Syndrome, Congenital Variant
Motor stereotypy, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Tongue thrusting, Sp... OMIM:613454
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Inability to walk, Hyperactivity, Cortical myoclonus, Myoclonus, Anxiet... ORPHA:168491
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent falls, Gait a... ORPHA:309256
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Impaired social interactions ORPHA:544254
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Hyperactivity, Tremor, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:618342
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Conspicuously happy disposition, Hypertonia, Ataxia, Motor stereotypy, Self-injurious behavior, R... OMIM:300986
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping OMIM:620021
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Truncal ataxia, Gait ataxia, Inappropriate lau... ORPHA:85278
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Abnormal social behavior, Depression, Intention tremor, Decerebrate rigidity, Babinsk... ORPHA:309271
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Poor eye contact, Depression, Anxiety, Rigidity, Chorea, Hostility, Pro... OMIM:300260
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Anxiety, Tremor, Shyness, Aggressive behavior, Spasticity OMIM:300978
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Parkinsonism, Hypersexuality, Disinhibition, Repetitive compulsive behavior, Apraxia OMIM:607485
Young-Onset Parkinson Disease
Apathy, Impulsivity, Bradykinesia, Depression, Anxiety, Panic attack, Rigidity, Tremor, Spasticit... ORPHA:2828
Trichotillomania
Hair-pulling OMIM:613229
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Abnormal pyramidal... ORPHA:309246
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618825
Intellectual Developmental Disorder, Autosomal Dominant 51
Hand-leading gestures, Tics, Aggressive behavior, Recurrent hand flapping OMIM:617788
Coffin-Siris Syndrome 6
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Tics OMIM:617808
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... OMIM:619121
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Poor eye contact ORPHA:411986
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Hyperactivity, Recurrent hand flapping,... ORPHA:98794
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor eye contact, Self-mutilation, Cerebral palsy, Stereotypical hand wringing, Low frust... ORPHA:163681
Distal Xq28 Microduplication Syndrome
Impulsivity, Poor eye contact, Stereotypical body rocking, Depression, Anxiety, Self-biting, Aggr... ORPHA:293939
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior ORPHA:397612
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Recurrent hand flapping, Tongue thrusti... ORPHA:411511
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping OMIM:613192
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor OMIM:619428
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Attention deficit hyperactivity disorder ORPHA:10
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Anxiety, Paraplegia, Emotional lability ORPHA:927
Alazami Syndrome
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation ORPHA:319671
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... OMIM:300912
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Aggressive be... OMIM:618914
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Self-mutilation,... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance OMIM:300486
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia... ORPHA:208447
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk OMIM:619877
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Anxiety, Oromotor apraxia, Attention deficit hyperactivity disorder, Spasticity, Repetitive compu... ORPHA:391372
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, Hyperactivity, Self-mutilation OMIM:182290
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit h... OMIM:619680
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hyperactivity, Hair-pulling, Myoclonic spasms, Clonus, Lower limb s... ORPHA:447997
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Self-injurious behavior ORPHA:238750
Rett Syndrome
Motor stereotypy, Inability to walk, Bradykinesia, Stereotypical hand wringing, Gait disturbance,... ORPHA:778
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Hypertonia, Motor stereotypy, Gait disturbance, Speech apraxia, Attention defic... OMIM:300352
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting, Inappropriate crying ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Choreoacanthocytosis
Falls, Chorea, Emotional lability, Slurred speech, Hypertonia, Loss of ambulation, Hyperactivity,... ORPHA:2388
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Incoordination, Motor stereotypy, Gait ataxia OMIM:616579
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Chorea, Spasticity, Eyelid myoclonus ORPHA:178469
Luscan-Lumish Syndrome
Slurred speech, Shyness, Anxiety, Aggressive behavior OMIM:616831
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... ORPHA:522077
Potocki-Lupski Syndrome
Motor stereotypy, Poor eye contact OMIM:610883
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior OMIM:619435
22Q11.2 Duplication Syndrome
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder ORPHA:1727
Niemann-Pick Disease Type C
Apathy, Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Abnormal social behavior, ... ORPHA:646
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Hyperactivity, Self-injurious behavi... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Anxiety, Hyperactivity, Irritability OMIM:617796
Radio-Tartaglia Syndrome
Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Tremor, Aggressive behavior OMIM:619312
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Tremor, Abnormal aggressive, impulsive or violent behavior, Ir... ORPHA:96263
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Motor stereotypy, Low frustration tolerance OMIM:619293
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Spastic diplegia, Delayed social development, Spasticity, Spastic ... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Self-injurious behavior, Tremor, Attention deficit hyperactivity disorder, Aggr... OMIM:617061
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Motor stereotypy OMIM:616351
Rauch-Steindl Syndrome
Motor stereotypy, Anxiety, Hyperactivity, Aggressive behavior OMIM:619695
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... ORPHA:261197
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rigidity, ... ORPHA:217253
Transketolase Deficiency
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:488618
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, Spastic paraparesis, Aggressive behavior, Incoordination ORPHA:369891
Smith-Magenis Syndrome
Motor stereotypy, Self-injurious behavior, Anxiety, Gait disturbance, Attention deficit hyperacti... ORPHA:819
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Self-injurious behavior, Poor eye contact, Limb hypertonia, Spasticity ORPHA:457351
White-Sutton Syndrome
Overfriendliness, Motor stereotypy, Self-injurious behavior, Anxiety, Tics, Aggressive behavior, ... OMIM:616364
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Self-mutilation, Tremor, Gait ataxia, Attention deficit hyperactivity disorder,... ORPHA:476126
Coffin-Siris Syndrome 7
Motor stereotypy, Hyperactivity OMIM:618027
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing OMIM:619854
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Poor eye contact OMIM:300672
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Anxiety, Aggressive b... OMIM:156200
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Abnormal pyramidal sign, Nonprogre... ORPHA:314647
Rett Syndrome
Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity OMIM:312750
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Head-banging, Attention deficit hyperactivity disorder OMIM:619103
Phelan-Mcdermid Syndrome
Motor stereotypy, Poor eye contact, Tongue thrusting, Aggressive behavior, Impaired social intera... OMIM:606232
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Inability to walk OMIM:617802
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance ORPHA:457279
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
49,Xxxxy Syndrome
Overfriendliness, Tremor, Shyness, Irritability, Low frustration tolerance ORPHA:96264
Optic Atrophy-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior ORPHA:401777
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, Tongue thrusting ORPHA:98795
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Motor stereotypy ORPHA:213
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Hyperactivity OMIM:615873
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:212066
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Stereotypical hand wringing, Tremor, Spas... OMIM:619229
Kleefstra Syndrome 1
Motor stereotypy, Apathy, Aggressive behavior OMIM:610253
1P21.3 Microdeletion Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Self-mutilation ORPHA:293948
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Spasticity, Inappropriate laughter OMIM:615802
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder ORPHA:435638
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ataxia, Isometric tremor, Falls, Tics, Spasticity, Emotional lability, Broad-based gait, Hyperton... OMIM:619475
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Impulsivity, Poor eye contact, Unilateral vocal cord paralysis, Shyness, Spasti... OMIM:301030
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired socia... ORPHA:177907
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia ORPHA:496641
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Chromosome 5P13 Duplication Syndrome
Motor stereotypy OMIM:613174
D-Glyceric Aciduria
Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia OMIM:220120
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Stereotypical body rocking, Inappropriate crying, Tongue ... ORPHA:261323
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Self-injurious behavior, Recurrent hand flapping OMIM:615485
White-Sutton Syndrome
Motor stereotypy, Self-injurious behavior, Hyperactivity, Aggressive behavior, Incoordination ORPHA:468678
Bainbridge-Ropers Syndrome
Hypertonia, Inability to walk, Recurrent hand flapping ORPHA:352577
Wiedemann-Steiner Syndrome
Motor stereotypy, Hyperactivity, Anxiety, Aggressive behavior, Low frustration tolerance ORPHA:319182
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Hypertonia, Irritability, Abnormal social beh... ORPHA:1675
Tuberous Sclerosis Complex
Impulsivity, Self-injurious behavior, Abnormal social behavior, Depression, Anxiety, Aggressive b... ORPHA:805
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
7Q11.23 Microduplication Syndrome
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Aggressive behavior, Impaired soci... ORPHA:96121
2Q37 Microdeletion Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:1001
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Aggressive behavior, Self-mutilation ORPHA:261494
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior OMIM:610954
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Self-injurious behavior, Head-banging, Attention deficit hyperactivity disorder OMIM:619575
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Ataxia, Poor gross motor coordination, Hyperactivity, Dysmetr... OMIM:614756
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal nonverbal communicative behavior, Spasticity ORPHA:485421
Dilated Cardiomyopathy With Ataxia
Action tremor, Ataxia, Lower limb spasticity, Repetitive compulsive behavior ORPHA:66634
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation OMIM:619005
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Pyruvate Carboxylase Deficiency
Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Abnormal pyramidal sign, Tremor ORPHA:3008
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, No social interaction, Opisthotonus ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Anxiety, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:464311
Mend Syndrome
Limb hypertonia, Aggressive behavior, Abnormal social behavior ORPHA:401973
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Self-injurious behavior, Anxiety, Hyperactivity OMIM:619512
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Self-injurious behavior, Abnormal pyramidal sign, Hyperkinetic move... ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Anxiety, Hyperactivity, Motor stereotypy ORPHA:464306
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia OMIM:619777
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injuriou... ORPHA:353281
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia OMIM:617330
Trichothiodystrophy
Hypertonia, Impaired social reciprocity, Intention tremor, Paraplegia/paraparesis, Abnormal pyram... ORPHA:33364
Dpagt1-Cdg
Hypertonia, Akinesia, Ataxia, Inability to walk, Head-banging, Stereotypical body rocking, Emotio... ORPHA:86309
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Impulsivity, Tip-toe gait, Self-mutilation, Spastic diplegia, Limb hypertonia, Cerebral p... OMIM:619950
Intellectual Developmental Disorder, Autosomal Dominant 22
Stereotypical hand wringing OMIM:612337
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior, Anxiety, Speech apraxia, Inappropriate laughter ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior, Anxiety, Speech apraxia, Inappropriate laughter ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Aggressive behavior OMIM:301066
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Aggressive behavior, Tongue thrusting, Hemiparesis ORPHA:369950
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity OMIM:301040
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Unsteady gait OMIM:616682
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Motor stereotypy, Stereotypical body rocking, Gait ataxia, Repetitive compulsiv... ORPHA:513456
Mucopolysaccharidosis Type 2
Impulsivity, Motor stereotypy, Hyperactivity, Aggressive behavior ORPHA:580
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Motor stereotypy, Poor eye contact OMIM:301044
Cardiofaciocutaneous Syndrome 1
Hypertonia, Tongue thrusting, Oculomotor apraxia OMIM:115150
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Self-injurious behavior, Depression, Anxiety, Attention deficit hyperactivity d... ORPHA:534
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Motor stereotypy OMIM:619297
Orofaciodigital Syndrome V
Overfriendliness OMIM:174300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injuriou... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injuriou... ORPHA:353277
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Pseudobulbar paralysis, Intention tremor, Anxiety, Speech apraxia, Shyness, Aggressive be... ORPHA:466791
Norrie Disease
Motor stereotypy, Hypertonia, Self-injurious behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:649
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Spastic diplegia, Hyperactivity, Poor coordination OMIM:309590
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Hypertonia, Ataxia, Anxiety, Stereotypical hand wringing, Gait disturbance, Agg... ORPHA:268261
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Difficulty walking OMIM:618653
Williams Syndrome
Overfriendliness, Ataxia, Dysmetria, Abnormal social behavior, Depression, Anxiety, Tremor, Invol... ORPHA:904
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Irritability OMIM:300855
Arboleda-Tham Syndrome
Gait imbalance, Motor stereotypy, Lower limb hypertonia OMIM:616268
Mgat2-Cdg
Stereotypical hand wringing ORPHA:79329
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Monosomy 22Q13.3
Hyperactivity, Hair-pulling ORPHA:48652
1P36 Deletion Syndrome
Gait disturbance, Motor stereotypy, Self-injurious behavior, Hemiplegia/hemiparesis ORPHA:1606
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aggressive behavior OMIM:309000
Primrose Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disor... OMIM:259050
Turner Syndrome Due To Structural X Chromosome Anomalies
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development ORPHA:99413
Turner Syndrome
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development ORPHA:881
Mosaic Monosomy X
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development ORPHA:99228
Monosomy X
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development ORPHA:99226
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Myoclonus, Stereotypical hand ... ORPHA:438213
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Mowat-Wilson Syndrome
Motor stereotypy, Happy demeanor, Ataxia, Anxiety, Spasticity, Impaired social interactions ORPHA:2152
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Impulsivity, Tip-toe gait, Stereotypical body rocking, Falls, Low frustration t... OMIM:619503
Wolf-Hirschhorn Syndrome
Motor stereotypy OMIM:194190
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Happy demeanor, Motor stereotypy, Inability to walk, Poor fine motor coordinati... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Happy demeanor, Motor stereotypy, Inability to walk, Poor fine motor coordinati... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tafa3

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 Tafa3.

No publications found that use IMPC mice or data for Tafa3.

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MGI Allele Allele Type Produced
Tafa3em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Tafa3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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