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Gene: Dao MGI:94859

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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:
D-amino acid oxidase
Synonyms:
Dao-1,  DAO,  Dao1

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 Dao 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.

The table below shows human diseases associated to Dao by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis
Spasticity, Fasciculations, Fatigable weakness of respiratory muscles, Babinski sign, Paralysis, ... ORPHA:803

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Motor... OMIM:239500
Diaminopentanuria
Ataxia, Hyperlysinuria, Cystinuria, Spasticity OMIM:222350
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Paraparesis, Lower limb spasticity, Hypertonia,... OMIM:612736
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Spasticity, Aggressive behavior, Hyperactivity OMIM:615493
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Paroxysmal dyskinesia, Ataxi... OMIM:619150
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Spasticity, Aggressive behavior, Hyperactivity ORPHA:356996
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... OMIM:617270
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Involuntary movements, Motor stereotypy, Agitation OMIM:617171
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Clumsiness... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Spasticity, Involuntary movements, Inability to walk, Motor stereotypy OMIM:617820
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Speech apraxia, Aggressive behavior, A... OMIM:613670
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Athetoid cerebral palsy, Hyper... OMIM:618218
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Spastic tetraplegia, Hypertonia OMIM:615282
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Abnormal pyramidal sign, Dysphagia, Hypertonia, Unstea... OMIM:617435
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Fasciculations, Disinhibition, Abnormality of extra... ORPHA:275864
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w... OMIM:618917
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Spasticity, Broad-based gait, Difficulty walking, Inability to walk, Lim... OMIM:617695
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Disinhibition, Rigidity, Aggressive behavior, Babinski sign, G... OMIM:600795
Primary Dystonia, Dyt13 Type
Involuntary movements, Postural tremor, Action tremor, Torticollis, Motor stereotypy ORPHA:98807
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hypera... OMIM:618718
Foxg1 Syndrome
Spasticity, Difficulty walking, Bruxism, Inability to walk, Myoclonus, Stereotypical hand wringin... ORPHA:561854
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Imp... ORPHA:3095
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Tryptophanuria With Dwarfism
Ataxia, Gait disturbance, Tryptophanuria OMIM:276100
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Attention deficit hyperactivity disorder, M... OMIM:619725
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Spastic dysarthria... ORPHA:280763
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Spasticity, Motor stereotypy OMIM:617393
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Motor stereotypy, Choreoath... OMIM:619317
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Disinhibition, Babinski sign, Dysphagia, Motor stereotypy OMIM:612069
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Motor stereotypy OMIM:619092
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Cerebral palsy, Attention deficit hyperactivity disorder, Repetitive compulsive behav... ORPHA:352490
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Inappropriate laughter, Chorea, ... OMIM:614254
Cystinosis
Aminoaciduria, Polydipsia, Abnormal pyramidal sign, Gait disturbance, Motor stereotypy ORPHA:213
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactiv... OMIM:614104
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Progressive spasticity, Motor stereotypy DECIPHER:45
Christianson Syndrome
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy ORPHA:85278
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxia,... OMIM:620141
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Gait distu... ORPHA:544254
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Recurrent hand flapping, Gait ataxia, Aggressive behavior, Attention deficit h... OMIM:619580
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine OMIM:300539
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Mo... OMIM:618342
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bruxism, Tremor, Babinsk... OMIM:300055
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Loss of ambulation, Clumsiness, Parkinsonism, Dysphagia, Myoclonic spasm... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Chorea, Recurrent hand flapping, Myoclonus, Attention deficit hyperactivity disor... OMIM:617600
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Oral-pharyngeal dysphagia, Paroxysmal dyskinesia, Eyelid myo... ORPHA:208447
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Babinski sign, Scissor ... OMIM:619121
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Inability to walk, Bruxism, Chorea, Rigidity, Repetitive compulsive behavior,... OMIM:300260
D-Glyceric Aciduria
Aminoaciduria, Spasticity, Myoclonus, Appendicular spasticity, Opisthotonus, Tongue thrusting, Sp... OMIM:220120
Smith-Magenis Syndrome
Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Hyp... OMIM:182290
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Skin-picking, Aggressiv... OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... OMIM:618825
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Spasticity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Poor coordination, ... OMIM:618430
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Hijazi-Reis Syndrome
Gait disturbance, Lower limb spasticity, Motor stereotypy, Ankle clonus OMIM:301094
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Hemiparesis, Limb hypertonia, Motor ... OMIM:618004
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Motor stereotypy, Upper limb s... ORPHA:457240
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Motor stereotypy ORPHA:530983
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Inability to walk, Myoclonus, Obsessive-compulsive trait, Aggressive behavior, Gait d... ORPHA:168491
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Spasticity, Broad-based gait, Difficulty walking, Gait ataxia, Motor stereotypy OMIM:617807
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Motor stereotypy ORPHA:411986
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Hyp... OMIM:617865
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Motor stereotypy, Hypertonia OMIM:619877
Pitt-Hopkins-Like Syndrome 1
Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,... OMIM:610042
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy OMIM:613443
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Motor stereotypy, Agitation, Ataxia ORPHA:927
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Poor coordination, ... OMIM:620242
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin... OMIM:300912
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Tremor, Ataxia ORPHA:10
Ritscher-Schinzel Syndrome 4
Chorea, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity OMIM:619435
Rett Syndrome
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait disturbance, Br... ORPHA:778
Snijders Blok-Campeau Syndrome
Broad-based gait, Speech apraxia, Attention deficit hyperactivity disorder, Unsteady gait, Motor ... OMIM:618205
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Motor stereotypy OMIM:618067
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Radio-Tartaglia Syndrome
Gait imbalance, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia,... OMIM:619312
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cerebral palsy, Aggressive behavior, Hypertonia, Motor stereotypy, Impul... OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Pain insensitivity, Tremor, Aggressive behavior, Attention deficit hyper... OMIM:617061
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:411511
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting ORPHA:3306
Cri-Du-Chat Syndrome
Difficulty walking, Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive ... OMIM:123450
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Tremor ORPHA:238750
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Motor stereotypy, Ataxia OMIM:619428
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:98794
Potocki-Lupski Syndrome
Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy OMIM:616351
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Incoordination, Gait ataxia, Overfriendliness, Motor stereotypy OMIM:616579
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Spasticity, Poor hand-eye coordination, Speech apraxia, Aggressive behavior, At... OMIM:300352
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Motor stereotypy, Spasticity, Dysphagia ORPHA:572013
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Spasticity, Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Rett Syndrome, Congenital Variant
Spasticity, Bruxism, Chorea, Apraxia, Tongue thrusting, Athetosis, Motor stereotypy OMIM:613454
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Inability to walk, Myoclonus, Tremor, Stereotypical hand wringing, Lower limb spastic... OMIM:619229
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Motor stereotypy, Dysphagia OMIM:617802
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity ORPHA:391307
Smith-Magenis Syndrome
Self-injurious behavior, Impaired pain sensation, Attention deficit hyperactivity disorder, Gait ... ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 52
Pica, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity OMIM:617796
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Overfriendliness OMIM:619293
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Compulsive behaviors OMIM:613174
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Rett Syndrome
Spasticity, Bruxism, Gait ataxia, Stereotypical hand wringing, Gait apraxia, Truncal ataxia OMIM:312750
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Self-mutilation, Tremor, Aggressive behavior, Attention deficit hyperactivity disord... ORPHA:476126
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Athetoid cerebral palsy, Self-mutilation, Hyperkinetic movements, Repetiti... ORPHA:522077
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Inability to walk, Spastic ataxia, Oculomotor apraxia, Torticollis, Motor stereotypy,... ORPHA:300570
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Cataplexy, Fasciculations, Tetraplegia, Dysphagia, Ataxia, Progressive spasticity, Mo... ORPHA:496641
Chromosome 15Q11.2 Deletion Syndrome
Clumsiness, Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:615656
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Joubert Syndrome 6
Oculomotor apraxia, Motor stereotypy, Ataxia OMIM:610688
Pilarowski-Bjornsson Syndrome
Speech apraxia, Motor stereotypy OMIM:617682
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Bruxism, Aggressive behavior, Tongue thrusting, Unstea... OMIM:606232
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Aggressive behavior, Ataxia, Unsteady gait, Motor stereotypy ORPHA:457279
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Inappropriate laughter, Babinski sign, Hypertonia, Motor stereotypy OMIM:615802
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Aggressive behavior, Hyperactivity, Tics, Motor stereo... OMIM:616364
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Hypertonia, Unsteady gait, Mot... OMIM:212066
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Motor stereotypy, Attention deficit hyperactivity disorder, Paroxysmal dyskinesia... ORPHA:261197
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, C... OMIM:620494
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:98784
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1727
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy OMIM:619103
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Gait disturbance, Recurrent hand flapping, Agitation OMIM:617903
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Spasticity, Inability to walk, Limb hypertonia, Motor stereotypy ORPHA:457351
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Progressive spastic quadriplegia, Clonus, Torticollis, Ataxia, Tics... OMIM:619475
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Dysphagia, Ataxia, Motor stereotypy OMIM:607625
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Bainbridge-Ropers Syndrome
Self-injurious behavior, Inability to walk, Recurrent hand flapping, Hypertonia, Motor stereotypy OMIM:615485
White-Sutton Syndrome
Self-injurious behavior, Incoordination, Aggressive behavior, Hyperactivity, Compulsive behaviors... ORPHA:468678
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1001
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy OMIM:610253
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Speech apraxia, Gait ataxia, Dysmetria, Dysphagia, Ataxia, ... OMIM:617330
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy, Incoordination OMIM:610954
Choreoacanthocytosis
Resting tremor, Hair-pulling, Loss of ambulation, Parkinsonism, Bradykinesia, Dysphagia, Socially... ORPHA:2388
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Lower limb spasticity, Clonus, Dysphagia, Hyperactivity, Hypertonia, Myoclonic spas... ORPHA:447997
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Motor stereotypy OMIM:300672
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism... ORPHA:96121
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation ORPHA:261494
Developmental And Epileptic Encephalopathy 100
Chorea, Myoclonus, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathetosis OMIM:619777
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Limb myoclonus ORPHA:64280
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, C... ORPHA:177907
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hand tremor, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyp... OMIM:614756
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Aminoaciduria, Attention deficit hyperactivity disorder, Clonus, Compuls... ORPHA:534
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity ... OMIM:619575
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Opisthotonus, Motor stereotypy, Hypertonia ORPHA:508533
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Impaired pain sensation, Self-mutilation OMIM:619005
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Aggressive behavior, Motor stereotypy OMIM:309000
Kinsship Syndrome
Myoclonus, Bruxism, Spastic tetraparesis, Motor stereotypy OMIM:619297
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Spasticity, Hyperkinetic movements, Abnormal pyramidal sign, Hypertonia,... ORPHA:468631
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Motor stereotypy OMIM:301040
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Frequent temper tantrums, Hyperactivity, Compulsive behaviors, Motor ste... OMIM:619512
Van Esch-O'Driscoll Syndrome
Spasticity, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Motor ster... OMIM:301030
Nmda Receptor Encephalitis
Involuntary movements, Chorea, Myoclonus, Rigidity, Opisthotonus, Motor stereotypy, Choreoathetos... ORPHA:217253
Helsmoortel-Van Der Aa Syndrome
Bruxism, Polyphagia, Attention deficit hyperactivity disorder, Dysphagia, Hyperactivity, Compulsi... OMIM:615873
Wiedemann-Steiner Syndrome
Aggressive behavior, Motor stereotypy, Dysphagia, Hyperactivity ORPHA:319182
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Pain insensitivity, Broad-based gait, Fixated interests, Hair-pulling, P... OMIM:620330
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Gait disturbance, Motor stereotypy ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Motor stereotypy, Hyperactivity ORPHA:464306
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Stereotypical body rocking, Gait ataxia, Repetitive compulsive behavior, Motor ... ORPHA:513456
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Moto... ORPHA:580
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Motor stereotypy OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Motor stereotypy OMIM:301066
Arboleda-Tham Syndrome
Gait imbalance, Motor stereotypy, Dysphagia, Lower limb hypertonia OMIM:616268
Ogden Syndrome
Hypertonia, Motor stereotypy, Dysphagia, Torticollis OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Motor stereotypy, Hyperactivity, Spastic diplegia OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
1P36 Deletion Syndrome
Self-injurious behavior, Hemiplegia/hemiparesis, Polyphagia, Gait disturbance, Dysphagia, Motor s... ORPHA:1606
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Comp... ORPHA:353281
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Motor stereotypy, Hypertonia OMIM:301044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Comp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Comp... ORPHA:353277
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy, Tremor OMIM:612474
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Ataxia, T... OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Norrie Disease
Self-injurious behavior, Attention deficit hyperactivity disorder, Clonus, Hypertonia, Motor ster... ORPHA:649
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Wolf-Hirschhorn Syndrome
Motor stereotypy OMIM:194190
Mowat-Wilson Syndrome
Spasticity, Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Ata... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Mot... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Mot... ORPHA:261552
Amyotrophic Lateral Sclerosis
Spasticity, Fasciculations, Fatigable weakness of respiratory muscles, Babinski sign, Paralysis, ... ORPHA:803

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 Dao

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 Dao.

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

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