Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
microtubule-associated protein 6
Synonyms:
Mtap6,  2810411E12Rik,  STOP,  F-STOP

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Map6 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 Map6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Manganese Poisoning
Postural tremor, Dystonia, Gait disturbance, Aggressive behavior, Abnormality of extrapyramidal m... ORPHA:306682
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity, Motor tics OMIM:300830
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Corticobasal Syndrome
Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Limb apraxia... ORPHA:454887
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Perry Syndrome
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Shor... OMIM:168605
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Aggressive behavior, Myoclonus,... OMIM:606693
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... ORPHA:391411
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Aggressive behavior, Abnormality of extrapyramidal motor function, Cog... OMIM:607454
Dopa-Responsive Dystonia
Irritability, Abnormal social behavior, Anxiety, Oculogyric crisis, Panic attack, Lethargy, Gait ... ORPHA:255
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Shyness, Gait ataxia, Aggressive behavior OMIM:618221
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Hypokinesia, Tremor, Parkinson... OMIM:605407
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability OMIM:616657
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Happy demeanor, Tremor by anatomical site, Rigidity, Dimini... ORPHA:97349
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder OMIM:617665
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia, Freezing ... ORPHA:240094
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Stereotypy DECIPHER:8
Gilles De La Tourette Syndrome
Aggressive behavior, Self-mutilation, Phonic tics, Motor tics, Attention deficit hyperactivity di... OMIM:137580
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Impulsivity, Falls, Bradykinesia, Tremor,... ORPHA:240071
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Spasticity ORPHA:356996
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Limb dy... ORPHA:98762
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Huntington Disease
Clumsiness, Gait imbalance, Apathy, Irritability, Anxiety, Gait disturbance, Clonus, Bradykinesia... ORPHA:399
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300425
Autism
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608636
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ak... ORPHA:98773
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypokinesia, Hyper... ORPHA:238455
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, R... OMIM:309548
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Gait di... ORPHA:99
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Diminished movement, Limb apraxi... ORPHA:240103
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron... ORPHA:401901
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, Recurren... ORPHA:100973
Hereditary Late-Onset Parkinson Disease
Dystonia, Rigidity, Frequent falls, Shuffling gait, Bradykinesia, Apathy, Parkinsonism with favor... ORPHA:411602
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Death in infancy, Tongue fasciculations, Akinesia OMIM:618822
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood, Akinesia OMIM:619334
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Rigidity, Bradykinesia, Hypokinesia, Dysdiadochokinesis OMIM:609161
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Glycine Encephalopathy
Death in infancy, Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... OMIM:619150
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... ORPHA:275864
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... ORPHA:397933
N-Acetylaspartate Deficiency
Unsteady gait, Self-mutilation, Truncal ataxia, Stereotypy OMIM:614063
Pandas
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Inappropriate behavior, Rigidity, Aggressive behavior,... OMIM:600795
Aceruloplasminemia
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Apathy, Tremor, Ataxia, Craniofac... ORPHA:48818
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia OMIM:617270
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Irritability, Tongue fasciculations, Hypokinesia ORPHA:238329
Atypical Rett Syndrome
Involuntary movements, Dystonia, Gait disturbance, Panic attack, Limb myoclonus, Inappropriate cr... ORPHA:3095
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Difficulty walking, Spasticity, Stereotypy OMIM:617393
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, Stereotypy OMIM:239500
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia, Spasticity OMIM:300983
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hemiparesis, Spastic tetraparesis, Hyperactivity, Hypertonia, Impulsivity OMIM:604317
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Pick Disease Of Brain
Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Diminished motivation, Irritabili... OMIM:172700
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Abnormal neuron morphology, Falls, Shuffling gait, Bradykinesia, Apathy, ... ORPHA:412066
Parkinson Disease 23, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Resting tremor, Spasticity, Akinesia, Abnormal pyramidal sign, Limb dystonia OMIM:616840
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... OMIM:618218
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Amyotrophic lateral sclerosis, Apathy, Stereotypy, Emotional lability, Disinhibiti... OMIM:612069
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Diff... OMIM:619191
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysdiadochokin... ORPHA:247234
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Tetraplegia, Fasciculations, Hypokinesia OMIM:300816
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Mental Retardation With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Aggressive behavior, Speech apraxia, Stereotypy, Anxiety, Attention defi... OMIM:613670
Supranuclear Palsy, Progressive, 1
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retrocollis, Apath... OMIM:601104
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Stereotypy OMIM:615541
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Stereotypy, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... ORPHA:248111
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... ORPHA:3077
Supranuclear Palsy, Progressive, 2
Postural tremor, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, R... OMIM:609454
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression OMIM:605909
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Dystonia, Gait disturbance, Rigidity, Eyelid apraxia, Choreoathetosis, Abnormality ... OMIM:234200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Huntington Disease-Like 1
Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiety, Depression OMIM:603218
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Parkinsonism, Anxiety, De... OMIM:128235
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... ORPHA:71517
Pontocerebellar Hypoplasia, Type 11
Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Inability to walk, Broad... OMIM:617695
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Myoclonus, Poor e... ORPHA:561854
Muscular Hypertonia, Lethal
Hypertonia, Hypokinesia OMIM:254120
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Diminished movement, Myo... OMIM:608643
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia... OMIM:612716
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Bradykine... ORPHA:157941
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... OMIM:618718
Myopathy, Congenital, Compton-North
Death in infancy, Akinesia OMIM:612540
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Hypokinesia OMIM:618184
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Inability to walk, Stereotypy OMIM:617830
Combined Oxidative Phosphorylation Deficiency 1
Hypertonia, Poor eye contact, Spasticity, Hypokinesia OMIM:609060
Brown-Vialetto-Van Laere Syndrome 2
Clumsiness, Aggressive behavior, Hypokinesia, Ataxia, Tongue fasciculations OMIM:614707
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Developmental And Epileptic Encephalopathy 28
Spasticity, Rigidity, Hypokinesia OMIM:616211
Gaucher Disease, Perinatal Lethal
Opisthotonus, Neonatal death, Apathy, Hypokinesia, Akinesia OMIM:608013
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression ORPHA:88616
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300495
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Babinski sign, Spastic dysarthria, Stereotypy, Waddling gait, Spasticity, Prog... ORPHA:280763
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Stereotypy, Hyperactivity, Ataxia, Spasticity, Impaired social interactions OMIM:610042
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... OMIM:618917
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Stereotypy, Hyperactivit... ORPHA:449291
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypertonia, Death in childhood, Spastic tetraplegia, Akinesia OMIM:619147
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Hypokinesia OMIM:619063
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Early-Onset Schizophrenia
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Lack of peer relationship... ORPHA:96369
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy OMIM:618906
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cataplexy, Narcolepsy, Ataxia, Spasticity, Depression OMIM:604121
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Childhood Disintegrative Disorder
Anxiety, Impaired social interactions, Abnormal emotion/affect behavior, Stereotypy ORPHA:168782
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Hypokinesia, Resti... OMIM:168601
Lennox-Gastaut Syndrome
Aggressive behavior, Myoclonus, Falls, Hyperactivity, Personality disorder ORPHA:2382
Niemann-Pick Disease Type C
Clumsiness, Cataplexy, Apathy, Progressive gait ataxia, Abnormal social behavior, Abnormal pyrami... ORPHA:646
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Chorea, Apathy, Motor tics, Parkinsonism, Anxiety, Depression OMIM:615483
Fetal Akinesia Deformation Sequence
Akinesia, Hypokinesia ORPHA:994
Cdkl5-Deficiency Disorder
Gait disturbance, Poor eye contact, Inappropriate laughter, Stereotypical hand wringing, Difficul... ORPHA:505652
Landau-Kleffner Syndrome
Frequent falls, Steppage gait, Aggressive behavior, Speech apraxia, Hyperactivity, Slurred speech... ORPHA:98818
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Chorea, Aggressive behavior, Abnormality of extrapyramidal motor funct... ORPHA:500180
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Irritability, Stereotypical hand wringing, Spasticity ORPHA:500545
Xq28 (MECP2) duplication
Progressive spasticity, Stereotypy, Inability to walk, Death in childhood, Anxiety, Gait ataxia, ... DECIPHER:45
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety ORPHA:101039
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... ORPHA:382
Childhood Absence Epilepsy
Limb myoclonus, Low self esteem, Punding, Abnormal social behavior, Anxiety, Attention deficit hy... ORPHA:64280
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Happy demeanor, Poor eye contact, Stereotypy, Spasticity, Unsteady gait, Gait ataxia, D... OMIM:617807
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait, Recurrent hand flapping OMIM:615516
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Hypokinesia OMIM:300073
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Hyperactivity,... ORPHA:228360
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Christianson Syndrome
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Truncal ataxia, De... ORPHA:85278
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... OMIM:619580
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... ORPHA:485350
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Spasticity, Anxiety, Depression OMIM:619467
Developmental And Epileptic Encephalopathy 30
Death in infancy, Stereotypy OMIM:616341
Arthrogryposis Multiplex Congenita 5
Dystonia, Death in infancy, Hand tremor, Hypertonia, Akinesia OMIM:618947
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Suicidal ideation, Stereotypy, Anxiety, Attention def... ORPHA:98784
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Cerebral palsy, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, L... ORPHA:163681
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Hypokinesia OMIM:610498
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Hyperkinetic movements, Anxiety OMIM:271980
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Stereotypy, Hyperactivity, Ataxia, Inco... OMIM:614104
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Self-mutilation, Stereotypy, Tremor, Hyperkinetic moveme... ORPHA:457240
Dpagt1-Cdg
Aggressive behavior, Tremor, Stereotypical body rocking, Ataxia, Inability to walk, Hypertonia, E... ORPHA:86309
Dystonia 26, Myoclonic
Torticollis, Myoclonus, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
African Trypanosomiasis
Involuntary movements, Gait disturbance, Paralysis, Choreoathetosis, Narcolepsy, Aggressive behav... ORPHA:3385
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Hypertonia, Tics, Broad-based gait, Unsteady gait OMIM:617865
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Babinski sign, Narcolepsy, Ataxia, Resting tremor, Spasticity, Head tremor, Depression ORPHA:314404
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Myoclonus, Self-mutilation, Poor eye contact, ... OMIM:103050
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, Babinski sign, Spasticity OMIM:617773
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Loss of ability to walk, Emoti... ORPHA:79264
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... ORPHA:352490
Mercaptolactate-Cysteine Disulfiduria
Hypokinesia OMIM:249650
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
Myoclonic-Astatic Epilepsy
Lack of peer relationships, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Trem... ORPHA:1942
Distal Xq28 Microduplication Syndrome
Self-biting, Aggressive behavior, Poor eye contact, Stereotypical body rocking, Tip-toe gait, Imp... ORPHA:293939
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608049
Lamb-Shaffer Syndrome
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping, Impaired social int... ORPHA:544254
Poliomyelitis
Paralysis, Low self esteem, Diminished movement, Fasciculations, Paraparesis, Inability to walk, ... ORPHA:2912
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Rett Syndrome, Congenital Variant
Athetosis, Dystonia, Inappropriate crying, Chorea, Tongue thrusting, Poor eye contact, Stereotypy... OMIM:613454
Gand Syndrome
Tics, Hyperactivity, Inappropriate laughter OMIM:615074
Disseminated Sclerosis With Narcolepsy
Narcolepsy, Cataplexy OMIM:223300
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Stereotypy, Anxiety, Attention deficit hyperactivit... ORPHA:313892
Bilateral Generalized Polymicrogyria
Dystonia, Self-injurious behavior, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid... ORPHA:208447
X-Linked Adrenoleukodystrophy
Clumsiness, Gait disturbance, Paralysis, Aggressive behavior, Paraparesis, Progressive spastic pa... ORPHA:43
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Myoclonus, Cortical myoclonus, Stereotypy, Hyperactivity, ... ORPHA:168491
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Spasticity, Broad-based gait ORPHA:457260
Intermediate Nemaline Myopathy
Difficulty walking, Hypokinesia ORPHA:171433
Cerebral Creatine Deficiency Syndrome 1
Gait disturbance, Dystonia, Poor hand-eye coordination, Aggressive behavior, Stereotypy, Spastici... OMIM:300352
German Syndrome
Hypokinesia OMIM:231080
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Hyperactivity, Ataxia ORPHA:228402
Alg11-Cdg
Limb hypertonia, Opisthotonus, Hypokinesia, Ataxia, Hypertonia, Impaired social interactions ORPHA:280071
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Stereotypy, Hyperactivity,... OMIM:123450
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Stereotypy ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Poor eye contact, Lower limb spasticity, Stereotypy, Re... OMIM:300260
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Self-injurious behavior, Aggressive behavior, Conspicuously happy disposition, ... OMIM:300986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Exaggerated sta... ORPHA:309246
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Hypokinesia OMIM:615042
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Hemiparesis, Hyperactivity, Inability to walk, Irritability,... ORPHA:1929
Narcolepsy 3
Narcolepsy, Cataplexy OMIM:609039
Narcolepsy 1
Narcolepsy, Cataplexy OMIM:161400
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... OMIM:610217
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Anxiety, Stereotypy OMIM:617808
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Stereotypy, Ataxia, Emotional lability, Anxiety, Lethargy ORPHA:927
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Poor eye contact, Lower limb spasticity, Stereotypy, Hyperactiv... OMIM:300912
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Poor eye contact, Stereotypy ORPHA:411986
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric c... ORPHA:178469
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy OMIM:618504
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Ataxia, Hypertonia, Oculomotor apraxia, Disinhibition, Apraxia, Abnormal social behavi... ORPHA:1020
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Inappropriate laughter, Spasticity OMIM:618859
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy OMIM:301029
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Snijders Blok-Campeau Syndrome
Unsteady gait, Speech apraxia, Broad-based gait, Stereotypy OMIM:618205
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Dystonia, Babinski sign, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... ORPHA:309256
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Spasticity OMIM:615286
Narcolepsy 7
Narcolepsy, Cataplexy OMIM:614250
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Myoclonus, Tongue thrusting, Inappropriate laughter, Tremor, Atax... ORPHA:98794
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Stereotypy ORPHA:3306
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abno... ORPHA:363400
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Dystonia, Babinski sign, Frequent falls, Progressive gait ataxia, Intention tremor, D... ORPHA:309263
Hyperekplexia 1
Frequent falls, Myoclonus, Exaggerated startle response, Hypokinesia, Hypertonia OMIM:149400
48,Xxyy Syndrome
Stereotypy, Tremor, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:10
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Hyperactivity, Aggressive behavior, Abnormal pyramidal sign ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Stereotypy, Hyperactivity, Low frustration tolerance, Spasticity, Gait ataxia OMIM:300486
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Aggressive behavior, Spastic tetraplegia, S... OMIM:619121
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Rigidity, Frequent falls, Bipolar affective disorder, Abnormality of extrapyram... ORPHA:254892
Typical Nemaline Myopathy
Fatiguable weakness of proximal limb muscles, Gait disturbance, Hypokinesia, Waddling gait, Fatig... ORPHA:171436
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Dystonia, Babinski sign, Frequent falls, Chorea, Progressive gait ataxia, Intention t... ORPHA:309271
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Hyperkinetic movements OMIM:617302
Fragile X Syndrome
Hyperactivity, Poor eye contact OMIM:300624
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Chorea, Self-mutilation, Hyperactivity, Ataxia, Hypertonia ORPHA:52503
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Dystonia, Gait disturbance, Spastic tetraparesis, Hyperactivity, Ataxia, ... ORPHA:35069
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging, Stereotypy OMIM:182290
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Tongue thrusting, Inappropriate laughter, Ataxia, Broad-based gai... ORPHA:411511
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Repetitive compulsive behavior, Spasticity, Anxiety, Attention deficit hyperact... ORPHA:391372
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hyperactivity, Spasticity, Broad-based gait OMIM:300958
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Myoclonus, Tongue thrusting, Poor e... ORPHA:72
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Poor eye contact, Stereotypy, Tremor, Ataxia, Impulsivity, A... OMIM:619312
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tolerance, Stereotypy OMIM:619293
Potocki-Lupski Syndrome
Hyperactivity, Poor eye contact, Stereotypy OMIM:610883
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Poor eye contact, Stereotypy, Ataxia, Head tremor, No social interaction OMIM:619428
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Choreoathetosis, Self-biting, Chorea, Self-mutilation, Poor eye contact, Stereotypy, Re... ORPHA:522077
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Delayed social development, Torticollis, Spastic ataxia, Stereotypy, Spastic tetraplegi... ORPHA:300570
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Gait ataxia OMIM:300354
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Impaired social int... ORPHA:261197
Alazami Syndrome
Anxiety, Self-mutilation, Stereotypical hand wringing, Stereotypy ORPHA:319671
Rett Syndrome
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... ORPHA:778
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Stereotypy ORPHA:397612
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Choreoathetosis, Frequent falls, Chorea, Abnormality of extrapyrami... OMIM:615673
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Stereotypy ORPHA:238750
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Self-injurious behavior, Poor eye contact, Stereotypy, Inability to walk, Spasti... ORPHA:457351
22Q11.2 Duplication Syndrome
Anxiety, Attention deficit hyperactivity disorder, Stereotypy ORPHA:1727
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Anxiety, Chorea, Myoclo... ORPHA:217253
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Hypertonia, Ataxia, Depression, Bipolar affective disorder OMIM:601853
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Self-injurious behavior, Aggressive behavior, Stereotypy, Hypertonia, Impulsivity OMIM:618914
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior OMIM:616809
German Syndrome
Hypokinesia ORPHA:2077
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Spastic parap... OMIM:609727
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Aggressive behavior, Hyperactivity, Ataxia, Spasticity, Anxiety OMIM:618430
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Tongue thrusting, Spasticity ORPHA:77299
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Irritability, Anxiety, Hair... ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... OMIM:309520
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Hyperactivity, Ataxia, Incoordination, Overfriendliness, Spastic paraparesis ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Stereotypy OMIM:618825
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibition, Parkinsonism OMIM:607485
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Lower limb spasticity, Inappropriate laughter, Tics, Hyperactivity, Low frustrat... ORPHA:363686
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Poor eye contact, Stereotypy, Broad-based gait, Unsteady g... OMIM:606232
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Self-injurious behavior, Aggressive behavior, Emotional lability, Impaired social int... ORPHA:293987
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... ORPHA:139396
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypokinesia OMIM:613320
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Hair-pulling, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hyperactivity, Hyperto... ORPHA:447997
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Myopathy, Centronuclear, X-Linked
Hypokinesia OMIM:310400
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy ORPHA:488618
Smith-Magenis Syndrome
Gait disturbance, Self-injurious behavior, Stereotypy, Anxiety, Attention deficit hyperactivity d... ORPHA:819
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Aggressive behavior, Stereotypy, Ataxia, Impulsivity OMIM:619435
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Self-mutilation, Stereotypy, Tremor, Attention deficit hyperactivity disorde... ORPHA:476126
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Poor eye contact, Stereotypy OMIM:300672
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Impaired social interactions, Impulsivity ORPHA:8
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Head-banging, Stereotypy OMIM:619103
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, Hypertonia OMIM:618916
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Babinski sign, Aggressive behavior, Shuffling gait, Hyperactivity, Lower limb hypertonia, Low fru... OMIM:300534
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Stereotypy OMIM:616351
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Cerebral palsy, Poor eye contact, Isometric tremor, Stereotypy, Irritability, Anxiet... OMIM:619475
Histidinemia
Hyperactivity ORPHA:2157
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:609625
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Hyperactivity, Hypertonia, Ataxia, Spasticity, Abnormal central motor function, S... ORPHA:760
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Stereotypy, Ataxia, Low frustration tolerance, Unsteady gait ORPHA:457279
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Inability to... OMIM:619229
Severe Congenital Nemaline Myopathy
Hypokinesia ORPHA:171430
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Self-mutilation, Stereotypy, Hypertonia, Unsteady gait OMIM:212066
Angelman Syndrome
Clumsiness, Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, B... OMIM:105830
Argininemia
Frequent falls, Spastic gait, Hyperactivity, Irritability, Progressive spastic quadriplegia, Spas... OMIM:207800
Mend Syndrome
Hyperactivity, Hypertonia OMIM:300960
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity ORPHA:401777
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Stereotypy OMIM:615873
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Stereotypy, Attention deficit hyperactivity disorder, Abnormal soci... ORPHA:177907
7Q11.23 Microduplication Syndrome
Dysmetria, Self-injurious behavior, Aggressive behavior, Stereotypy, Hyperactivity, Unsteady gait... ORPHA:96121
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Pediatric-Onset Graves Disease
Mood swings, Tremor, Hyperactivity, Irritability, Hyperkinetic movements ORPHA:525731
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior OMIM:252920
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
3P25.3 Microdeletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:435638
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Stereotypy ORPHA:213
Bainbridge-Ropers Syndrome
Death in infancy, Self-injurious behavior, Stereotypy, Inability to walk, Hypertonia, Recurrent h... OMIM:615485
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spa... ORPHA:496641
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability ORPHA:447980
Brain-Lung-Thyroid Syndrome
Clumsiness, Dystonia, Involuntary movements, Choreoathetosis, Chorea, Myoclonus, Falls, Intention... ORPHA:209905
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Self-mutilation, Death in childhood, Stereotypy OMIM:619005
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Tongue thrusting, Hyperactivity, Stereotypical bod... ORPHA:261323
Citrullinemia Type Ii
Aggressive behavior, Tremor, Hyperactivity, Irritability, Lethargy ORPHA:247585
Niemann-Pick Disease, Type C2
Dystonia, Cataplexy, Stereotypy, Ataxia, Spasticity OMIM:607625
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Stereotypy, Hyperactivity, Incoordination ORPHA:468678
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Repetitive compulsive behavior, Hyperactivity, Impu... ORPHA:805
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity OMIM:614613
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Gait imbalance, Broad-based gait ORPHA:98795
Wiedemann-Steiner Syndrome
Aggressive behavior, Stereotypy, Hyperactivity, Low frustration tolerance, Anxiety ORPHA:319182
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia, Abnor... ORPHA:314647
Pyruvate Carboxylase Deficiency
Dystonia, Apathy, Poor eye contact, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal sign, Recurr... ORPHA:3008
Kleefstra Syndrome 1
Aggressive behavior, Apathy, Stereotypy OMIM:610253
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Danon Disease
Hypokinesia OMIM:300257
X-Linked Intellectual Disability, Cabezas Type
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Aggressive behavior, Hyperactivity, Spasticity, Impulsivity ORPHA:363528
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:73272
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Attention deficit hyperactivity disorder, Head-banging, Stereotypy OMIM:619575
Dilated Cardiomyopathy With Ataxia
Dystonia, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Action tremor ORPHA:66634
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy ORPHA:500159
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Stereotypy ORPHA:1001
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Bainbridge-Ropers Syndrome
Inability to walk, Recurrent hand flapping, Hypertonia ORPHA:352577
Hyperlysinemia
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Tremor, Hyperactivity, Neck hyperto... ORPHA:2203
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Inappropriate laughter, Stereotypy, Hypertonia, Spasticity OMIM:615802
Megalocornea-Intellectual Disability Syndrome
Ataxia, Stereotypy ORPHA:2479
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Self-mutilation, Stereotypy ORPHA:261494
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Joubert Syndrome 1
Aggressive behavior, Self-mutilation, Oculomotor apraxia, Hyperactivity, Ataxia, Hemifacial spasm OMIM:213300
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Hypokinesia ORPHA:258
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Poor motor coordination, Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Posterior Meningocele
Upper limb spasticity, Paraplegia, Hypokinesia, Hypertonia, Difficulty walking ORPHA:268810
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Stereotypy, Inability to walk, Hypertonia, No social interaction ORPHA:508533
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Attention deficit hyperactivity disorder, Anxiety, Stereotypy ORPHA:464311
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Hyperactivity, Anxiety, Stereotypy OMIM:619512
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Anxiety, Stereotypy ORPHA:464306
Mend Syndrome
Abnormal social behavior, Hyperactivity, Aggressive behavior, Limb hypertonia ORPHA:401973
Mucopolysaccharidosis Type 3
Gait disturbance, Loss of ambulation, Aggressive behavior, Vocal cord paresis, Hyperactivity, Ata... ORPHA:581
Mucopolysaccharidosis, Type Iiic
Hyperactivity OMIM:252930
Early Infantile Epileptic Encephalopathy
Dystonia, Choreoathetosis, Self-injurious behavior, Myoclonus, Tremor, Hyperactivity, Spasticity,... ORPHA:1934
Rat-Bite Fever
Diminished movement ORPHA:31205
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Speech apraxia OMIM:618505
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyr... ORPHA:468631
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Dyggve-Melchior-Clausen Disease
Frequent falls, Spastic tetraparesis, Hyperactivity, Inability to walk, Difficulty walking ORPHA:239
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Tongue thrusting, Broad-based gait, Hemiparesis ORPHA:369950
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Broad-based gait, Gait ataxia OMIM:617330
Oculocerebrorenal Syndrome Of Lowe
Clonus, Death in infancy, Self-injurious behavior, Stereotypy, Anxiety, Attention deficit hyperac... ORPHA:534
Mucopolysaccharidosis Type 2
Impulsivity, Hyperactivity, Aggressive behavior, Stereotypy ORPHA:580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353277
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Stereotypy OMIM:301066
Ogden Syndrome
Hypertonia, Stereotypy OMIM:300855
Norrie Disease
Clonus, Self-injurious behavior, Stereotypy, Hypertonia, Irritability, Anxiety, Attention deficit... ORPHA:649
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Death in infancy, Stereotypy OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based gait, Gait at... ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gait disturbance, Aggressive behavior, Ataxia, Hypertonia, Stereotypical hand wringing, Broad-bas... ORPHA:268261
Cardiofaciocutaneous Syndrome 1
Oculomotor apraxia, Hypertonia, Tongue thrusting OMIM:115150
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Stereotypy OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Spastic diplegia, Poor coordination, Stereotypy OMIM:309590
Rubinstein-Taybi Syndrome 1
Abnormal fear/anxiety-related behavior, Poor coordination, Agoraphobia, Self-mutilation, Stereoty... OMIM:180849
Arboleda-Tham Syndrome
Gait imbalance, Lower limb hypertonia, Stereotypy OMIM:616268
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Stereotypy OMIM:618653
Brooks-Wisniewski-Brown syndrome
Hyperactivity, Spastic diplegia, Poor coordination OMIM:300612
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... ORPHA:642
1P36 Deletion Syndrome
Self-injurious behavior, Gait disturbance, Hemiplegia/hemiparesis, Stereotypy ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Poor eye contact, Stereotypy OMIM:301044
Mgat2-Cdg
Stereotypical hand wringing ORPHA:79329
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Stereotypy, Tics, Anxiety OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response, Stereotypy OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Dystonia, Myoclonus, Exaggerated startle response, Inability to walk, Ster... ORPHA:438213
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Stereotypy OMIM:309000
Mowat-Wilson Syndrome
Happy demeanor, Stereotypy, Ataxia, Inability to walk, Spasticity, Broad-based gait, Anxiety, Imp... ORPHA:2152
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Falls, Stereotypical body rocking, Low frustration tolerance, Tip-toe gait, Broad-based gait, Imp... OMIM:619503
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Happy demeanor, Stereotypy, Inability to walk, Poor fine motor coordination, Spasticity, Broad-ba... ORPHA:261537
Coffin-Siris Syndrome 12
Stereotypy OMIM:619325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Stereotypy, Inability to walk, Poor fine motor coordination, Spasticity, Broad-ba... ORPHA:261552
Wolf-Hirschhorn Syndrome
Stereotypy OMIM:194190

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 Map6

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 Map6.

No publications found that use IMPC mice or data for Map6.

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MGI Allele Allele Type Produced
Map6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Map6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Map6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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