Gene Summary

Name:
zinc finger SWIM-type containing 6
Synonyms:
2900036G02Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Zswim6em1(IMPC)J HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Zswim6 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 Zswim6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Failure to thrive, Hyperactivity, Tics, Hypertonia, Progressive microcephaly, Bro... OMIM:617865
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism OMIM:603671
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb, Hyp... ORPHA:1827

The table below shows human diseases predicted to be associated to Zswim6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Hyperactivity, Progressive microcephaly, Inability to walk, I... OMIM:616657
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Aggressive behavior, Abnormal corpus callosum morphology, Simplified gyral patter... OMIM:604317
N-Acetylaspartate Deficiency
Self-mutilation, Stereotypy, Truncal ataxia, Unsteady gait, Decreased body weight, Microcephaly OMIM:614063
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Stereotypy, Irritability, Spasticity, Cerebral atrophy, Difficulty walking, Mi... OMIM:617393
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Stereotypy, Ataxia, Attention deficit hyperactivity disorder... OMIM:618709
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Microcephaly OMIM:616311
Mental Retardation, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Spasticity, Large for gestational age ORPHA:356996
Juvenile Huntington Disease
Dystonia, Neuronal loss in basal ganglia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia,... ORPHA:248111
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Large basal ganglia, Chorea, Depression, Absent septum pellucidum, Stereotypy, Hyperact... ORPHA:88616
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... OMIM:609425
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, R... OMIM:309548
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... ORPHA:275864
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... OMIM:619150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia, Progressive microcephaly, Hypoplasia of the corpus callosum, Cerebral... OMIM:617862
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Inability to walk, Stereotypy OMIM:606053
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Simplified gyral pattern, Stereotypy, Tremor, Spastic tetraparesis, Perivent... OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Stereotypy DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ataxia, Progressive microcephaly, Hyperactivity, Hypoplasia of the corp... OMIM:613402
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... OMIM:600795
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing, Hypopl... OMIM:618760
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Spastic tetraplegia, Stereotypy, Hypertonia, Polymicrogyria, Secondary m... OMIM:615282
Gilles De La Tourette Syndrome
Aggressive behavior, Self-mutilation, Phonic tics, Motor tics, Attention deficit hyperactivity di... OMIM:137580
Childhood-Onset Benign Chorea With Striatal Involvement
Abnormal corpus striatum morphology, Chorea, Parkinsonism with favorable response to dopaminergic... ORPHA:494541
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron... ORPHA:401901
Glycine Encephalopathy
Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Agenesis of corpus call... OMIM:605899
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Huntington Disease-Like 1
Rigidity, Dysmetria, Chorea, Aggressive behavior, Basal ganglia gliosis, Incoordination, Unsteady... OMIM:603218
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxie... OMIM:606438
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk, Hypoplasia of th... OMIM:618090
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Inappropriate behavior, Abnormal neuron morphology, Shuffling gait, Bradykinesia, Falls,... ORPHA:412066
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral white matter hypoplasia, Failure to thrive, Irritability, Stereotypical hand wringing, S... ORPHA:500545
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Obesity, Aggressive behavior, Speech aprax... OMIM:613670
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Myoclonus, Abnorm... ORPHA:561854
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Stereotypical body rocking, Hyperactivity, Impulsivity, Recurren... ORPHA:100973
Pandas
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Aggressive behavior, Abnormality of e... ORPHA:500180
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Microcephaly OMIM:608747
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Stereotypy OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Microcephaly, Stereotypy OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia OMIM:617270
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Tetraplegia, Hyperactivity, Hypertonia, Cerebral atrophy, Agenesis of corpus c... OMIM:274270
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Tremor, Ataxia, Hyperactivity, Spasticity, Hypoplasia of the corpus callosum... OMIM:300983
Huntington Disease
Clumsiness, Gait imbalance, Decreased body mass index, Apathy, Irritability, Cerebral atrophy, An... ORPHA:399
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Pontocerebellar Hypoplasia, Type 11
Happy demeanor, Poor coordination, Stereotypy, Ataxia, Inability to walk, Decreased body weight, ... OMIM:617695
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... OMIM:618218
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Progressive microcephaly, Inability to wal... OMIM:618917
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Periventricular white matter hyperintensities, Impulsivity, Attention deficit hype... OMIM:301008
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Inappropriate crying, Limb myoclonus, Panic at... ORPHA:3095
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Diff... OMIM:619191
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, Spastic dysarthria, Cerebral cortical atrophy, Stereotypy, Waddling gait... ORPHA:280763
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Obesity, Aggressive behavior, Shuffling gait, Lower limb ... ORPHA:3077
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Cerebral atrophy, Anxiety, Hypoplasia of the corpus callosum, Microcephaly, Impuls... OMIM:616977
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy, Anxiety, Attention deficit hyperactivity disorder, Microcephaly OMIM:618906
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Chorea, Apathy, Motor tics, Basal ganglia calcification, Parkinsonism, Anxiety, Depres... OMIM:615483
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... OMIM:618718
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Happy demeanor, Small for gestational age, Inappr... OMIM:614104
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Xq28 (MECP2) duplication
Progressive spasticity, Failure to thrive, Gait ataxia, Stereotypy, Inability to walk, Anxiety, H... DECIPHER:45
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Parkinsonism,... OMIM:618093
Pick Disease Of Brain
Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Irritability, Diminished motivati... OMIM:172700
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... ORPHA:485350
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Corpus... ORPHA:228360
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Progressive microcephaly, Stereotypical hand wring... ORPHA:397933
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Amyotrophic lateral sclerosis, Apathy, Stereotypy, Emotional lability, Disinhibiti... OMIM:612069
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Christianson Syndrome
Dystonia, Cachexia, Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Aplasia/... ORPHA:85278
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cerebral calcification, Anxiet... OMIM:261600
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Chorea, Spastic tetraplegia, Hypertonia, Inability to walk, Irritability, Spas... OMIM:617864
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Bradykinesia, Tremor, Ataxia, Dysdiadoch... OMIM:615157
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Bilateral generalized polymicrogyria, Chorea, Self-injurious behavior, Leukoencephalopa... ORPHA:178469
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Stereotypy, Ataxia, Hyperactivity, Spasticity, Focal cortical dysplasia, Cor... OMIM:610042
Bilateral Generalized Polymicrogyria
Dystonia, Diffuse white matter abnormalities, Self-injurious behavior, Paroxysmal dyskinesia, Spa... ORPHA:208447
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Cerebral white matter atrophy, Aggressive behavior, Tetraplegia, Microcephaly,... ORPHA:369939
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Aggressive behavior, Hyperactivity, Spasticity, Decreased response to growth h... OMIM:615286
Aminoacylase 1 Deficiency
Hyperactivity, Cerebral atrophy OMIM:609924
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait, Obesity, Cessati... ORPHA:411515
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
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Self-mutilation, Stereotypy, Tremor, Hyperkinetic moveme... ORPHA:457240
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hypoplastic ... OMIM:619317
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Failure to thrive, Hyperactivity, Tics, Hypertonia, Progressive microcephaly, Bro... OMIM:617865
Ck Syndrome
Abnormal cerebral cortex morphology, Aggressive behavior, Slender build, Hyperactivity, Pachygyri... ORPHA:251383
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Hypoplasia of the corpus callosum ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety, Hypoplasia of the corpus callosum OMIM:300979
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Focal T2 hyperintense basal ganglia lesion... ORPHA:79264
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactiv... ORPHA:352490
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Spasticity, Broad-based gait, Hypoplasia of the corpus callos... ORPHA:457260
Landau-Kleffner Syndrome
Frequent falls, Steppage gait, Aggressive behavior, Speech apraxia, Hyperactivity, Slurred speech... ORPHA:98818
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia, Micro... OMIM:619092
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Spasticity, Recurrent hand flapping, Hypoplasia of the corpus callosum, C... OMIM:618859
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior, Failure to thrive OMIM:618362
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Punctate periventricular T2 hyperintense foci, ... ORPHA:309246
Optic Atrophy 11
Dysmetria, Leukoencephalopathy, Ataxia, Hyperactivity, Hyperkinetic movements, Microcephaly OMIM:617302
Mental Retardation, Autosomal Recessive 61
Babinski sign, Aggressive behavior, Hyperactivity, Spasticity, Secondary microcephaly, Hypoplasia... OMIM:617773
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neurodegeneration With Brain Iron Accumulation 2B
Babinski sign, Dystonia, Dysmetria, Chorea, Bradykinesia, Lewy bodies, Intention tremor, Hyperact... OMIM:610217
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Decreased body weight, Microcephaly OMIM:618342
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... ORPHA:382
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Frontal cortical atrophy, I... ORPHA:2388
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Myoclonus, Cortical myoclonus, Stereotypy, Ataxia, Corpus ... ORPHA:168491
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Stereotypy, Hyperactivity, Irritability, Abnormal cerebral white matter morp... ORPHA:391307
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Failure to thrive, Stereotypy, Ataxia, Emotional lability, Anxiety, Microcephaly, Let... ORPHA:927
Lennox-Gastaut Syndrome
Aggressive behavior, Myoclonus, Falls, Hyperactivity, Personality disorder ORPHA:2382
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Myoclonus, Tongue thrusting, Inappropriate laughter, Tremor, Atax... ORPHA:98794
Perry Syndrome
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Weight loss, Apathy, Bradykinesia,... OMIM:168605
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy,... ORPHA:1929
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Tongue thrusting, Corpus callosum atrophy, Spasticity, Diffuse cerebral atr... ORPHA:77299
Ck Syndrome
Aggressive behavior, Slender build, Hyperactivity, Pachygyria, Irritability, Polymicrogyria, Micr... OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Self-injurious behavior, Failure to thrive, Aggressive behavior, Conspicuously ... OMIM:300986
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Caudate atrophy, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis,... ORPHA:363400
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Cerebral palsy, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, L... ORPHA:163681
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination OMIM:617182
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Self-mutilation, Ataxia, Hypertonia, Hyperactivity, Microc... ORPHA:52503
Cdkl5-Deficiency Disorder
Gait disturbance, Impaired pain sensation, Inappropriate laughter, Stereotypical hand wringing, D... ORPHA:505652
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hyperactivity, Broad-based gait, Spasticity, Decreased body weight, Hypoplas... OMIM:300958
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Hyperactivity, Ataxia, Microc... ORPHA:228402
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Hyperkinetic movements, Anxiety OMIM:271980
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Happy demeanor, Stereotypy, Spasticity, Unsteady gait, Gait ataxia, Difficulty walking,... OMIM:617807
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Simplified gyral pattern, Tremor, Hyperactivity, Hypoplasia of ... OMIM:300354
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait, Recurrent hand flapping OMIM:615516
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Spastic gait, Aggressive beha... OMIM:619121
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Tongue thrusting, Inappropriate laughter, Ataxia, Recurrent hand ... ORPHA:411511
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Apathy, Lewy bodies, Repetitive compulsive behavior, Hypersexuality, Apr... OMIM:607485
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Stereotypy, Polymicrogyria, Abnormali... ORPHA:300570
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, Recurrent han... ORPHA:544254
Rett Syndrome
Gait disturbance, Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Primary microcephaly, ... ORPHA:778
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Spasticity, Anxiety, Depression OMIM:619467
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Myoclonus, Self-mutilation, Inappropriate laug... OMIM:103050
Coffin-Siris Syndrome 6
Stereotypy, Tics, Periventricular leukomalacia, Anxiety, Attention deficit hyperactivity disorder OMIM:617808
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Pain insensitivity, Lower limb spasticity, Stereotypy, ... OMIM:300260
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Gait disturbance, Aggressive behavior, Paraparesis, Progressive spastic pa... ORPHA:43
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Suicidal ideation, Stereotypy, Anxiety, Attention def... ORPHA:98784
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the inter... OMIM:615673
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Gait disturbance, Dystonia, Iron accumulation in globus pallidus, Spastic... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Myoclonus, Primary microcephaly, Hypertonia, Stereotypical hand wringi... ORPHA:289266
Cerebral Creatine Deficiency Syndrome 1
Gait disturbance, Dystonia, Failure to thrive, Poor hand-eye coordination, Aggressive behavior, S... OMIM:300352
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum, Truncal obesity OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Microcephaly OMIM:300434
Lamb-Shaffer Syndrome
Stereotypy, Ataxia, Hyperactivity, Upper motor neuron dysfunction, Microcephaly ORPHA:530983
Rett Syndrome, Congenital Variant
Athetosis, Dystonia, Inappropriate crying, Chorea, Tongue thrusting, Simplified gyral pattern, St... OMIM:613454
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Aggressive behavior, Hyperactivity, Anxiety, Microcephaly OMIM:300558
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Aggressive behavior, Hyperactivity, Obesity, Attention deficit hyperactivity disorder OMIM:301013
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Stereotypy, Hyperactivity, Hypoplasia of the corpus... OMIM:610883
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Cri-Du-Chat Syndrome
Small for gestational age, Aggressive behavior, Conspicuously happy disposition, Self-mutilation,... OMIM:123450
48,Xxyy Syndrome
Obesity, Stereotypy, Tremor, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:10
Alazami-Yuan Syndrome
Hyperactivity, Microcephaly OMIM:617126
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Stereotypy, Hyperactivity, Microcephaly ORPHA:3306
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Stereotypy, Anxiety, Attention deficit hyperactivit... ORPHA:313892
Smith-Magenis Syndrome
Impaired pain sensation, Self-mutilation, Stereotypy, Hyperactivity, Head-banging, Increased body... OMIM:182290
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Stereotypy, Hyperactivity, Recurrent hand flapping,... ORPHA:449291
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Impaired pain sensation, Microcephaly, Stereotypy OMIM:616579
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Stereotypy, Inability to walk, Occipital cortical atrophy, Hypoplasia of the corpus ca... ORPHA:411986
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Distal Xq28 Microduplication Syndrome
Self-biting, Aggressive behavior, Stereotypical body rocking, Tip-toe gait, Impulsivity, Anxiety,... ORPHA:293939
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Hair-pulling, Myoclonic spasms, Lower limb spasticity, Stereotypy, Primary microcephaly, ... ORPHA:447997
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Failure to thrive, Repetitive compulsive behavior, Spasticity, Overweight, Anxi... ORPHA:391372
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping, Cerebral atrophy OMIM:617268
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Cerebral degeneration, Dystonia, Rigidity, Choreoathetosis, Eyeli... OMIM:234200
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Tetraparesis, Stereotypy ORPHA:85277
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Failure to thrive, Aggressive behavior, Lower limb spasticity, Stereotypy, Secondary... OMIM:300912
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy OMIM:618504
Myoclonic-Astatic Epilepsy
Tremor, Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Unsteady gait, Abnormal pyramida... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy OMIM:301029
Snijders Blok-Campeau Syndrome
Unsteady gait, Broad-based gait, Speech apraxia, Stereotypy OMIM:618205
Obesity, Hyperphagia, And Developmental Delay
Obesity, Stereotypy OMIM:613886
Mental Retardation, Autosomal Dominant 48
Stereotypy, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Mi... OMIM:617751
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Self-injurious behavior, Aggressive behavior, Stereotypy, Hypertonia, Impulsivity... OMIM:618914
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Stereotypy, Tremor, Ataxia, Impulsivity, Obesity, Attention ... OMIM:619312
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Obesity, Aggressive behavior, Myoclonus, Tongue thrustin... ORPHA:72
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Impaired vibr... OMIM:609727
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Agenesis of corpus callosum, Stereotypy ORPHA:238750
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... ORPHA:139396
Angelman Syndrome
Clumsiness, Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, B... OMIM:105830
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Stereotypy, Focal polymicrog... OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Stereotypy, Hyperactivity, Low frustration tolerance, Spasticity, Gait ataxia OMIM:300486
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Irritability OMIM:275000
Smith-Magenis Syndrome
Gait disturbance, Failure to thrive in infancy, Impaired pain sensation, Self-injurious behavior,... ORPHA:819
Childhood Absence Epilepsy
Limb myoclonus, Low self esteem, Punding, Anxiety, Attention deficit hyperactivity disorder, Depr... ORPHA:64280
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, Hypertonia, Cerebral atrophy OMIM:618916
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Hypertonia, Decreased response to growth hormone ... OMIM:601853
Brain-Lung-Thyroid Syndrome
Clumsiness, Involuntary movements, Dystonia, Choreoathetosis, Failure to thrive, Chorea, Myoclonu... ORPHA:209905
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Aggressive behavior, Self-mutilation, Primary microcephaly, Tremor, Stereotypy... ORPHA:476126
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Anxiety, Impulsivity ORPHA:101039
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Babinski sign, Failure to thrive, Aggressive behavior, Shuffling gait, Hyperactivity, Lower limb ... OMIM:300534
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Abnormal corpus callosum morphology, Stereotypy, Cavum septum pellucidum, At... ORPHA:457279
Ritscher-Schinzel Syndrome 4
Athetosis, Dysgenesis of the hippocampus, Chorea, Aggressive behavior, Stereotypy, Ataxia, Impuls... OMIM:619435
22Q11.2 Duplication Syndrome
Anxiety, Attention deficit hyperactivity disorder, Microcephaly, Stereotypy ORPHA:1727
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Obesity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Ina... OMIM:619229
Childhood Disintegrative Disorder
Anxiety, Abnormal emotion/affect behavior, Stereotypy ORPHA:168782
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Spasticity, Anxiety OMIM:618430
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis, Failure to thrive, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, ... ORPHA:261197
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Stereotypy, Microcephaly, Ataxia, Head tremor, Cerebral cortical atrophy OMIM:619428
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Stereotypy ORPHA:228384
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Obesity, Pain insensitivity OMIM:600430
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Microcephaly OMIM:619239
Rubinstein-Taybi Syndrome 2
Hyperactivity, Microcephaly OMIM:613684
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior, Microcephaly OMIM:616809
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Lower limb spasticity, Inappropriate laughter, Hyperactivity, Tics, Low frustrat... ORPHA:363686
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Failure to thrive, Inappropriate laughter, Stereotypy, Hypertonia, Spasticity, Cer... OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Microcephaly, Stereotypy OMIM:618825
Blepharophimosis-Impaired Intellectual Development Syndrome
Low frustration tolerance, Attention deficit hyperactivity disorder, Thin corpus callosum, Stereo... OMIM:619293
Niemann-Pick Disease, Type C2
Dystonia, Cataplexy, Stereotypy, Ataxia, Spasticity, Neurofibrillary tangles OMIM:607625
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum, Small for gestational age, Stereotypy OMIM:613174
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Spasticity, Attention deficit hyperactivity disorder, Hypoplasia ... ORPHA:401777
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior ORPHA:85327
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Dominant 34
Secondary microcephaly, Broad-based gait, Stereotypy OMIM:616351
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Failure to thrive, Self-mutilation, Hyperactivity, Obesity ORPHA:412035
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Self-injurious behavior, Primary microcephaly, Stereotypy, Inability to walk, Sp... ORPHA:457351
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Self-injurious behavior, Failure to thrive, Stereotypy, Overweight, Dila... OMIM:619575
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Obesity, Stereotypy OMIM:615873
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Choreoathetosis, Self-biting, Chorea, Self-mutilation, Stereotypy, Repetitive compulsiv... ORPHA:522077
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Pri... ORPHA:496641
16P12.1P12.3 Triplication Syndrome
Skin-picking, Failure to thrive, Decreased response to growth hormone stimulation test, Hyperacti... ORPHA:485405
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Stereotypy, Ataxia, Abnormality of thalamus morphology, Attention ... ORPHA:435638
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Chromosome 10Q26 Deletion Syndrome
Small for gestational age, Aggressive behavior, Hyperactivity, Broad-based gait, Microcephaly OMIM:609625
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... ORPHA:73272
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Failure to thrive, Simplified gyral pattern, Spastic tetraparesis, Pa... OMIM:619179
Alazami Syndrome
Anxiety, Self-mutilation, Stereotypical hand wringing, Stereotypy ORPHA:319671
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Failure to thrive in infancy, Self-injurious behavior, Tongue thrusting, Hy... ORPHA:261323
Pyruvate Carboxylase Deficiency
Dystonia, Periventricular cysts, Failure to thrive, Cerebral white matter atrophy, Apathy, Basal ... ORPHA:3008
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Aggressive behavior, Self-mutilation, Stereotypy, Hypertonia, Unsteady gait, M... OMIM:212066
Wiedemann-Steiner Syndrome
Failure to thrive, Aggressive behavior, Abnormal corpus callosum morphology, Stereotypy, Hyperact... ORPHA:319182
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Subcortical cerebral atrophy, Stereotypy, Hyperacti... ORPHA:468678
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Stereotypy ORPHA:397612
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Cerebral hypoplasia, Self-injurious behavior, Simplified gyral p... ORPHA:468631
Citrullinemia Type Ii
Decreased body mass index, Aggressive behavior, Tremor, Hyperactivity, Cerebral edema, Irritabili... ORPHA:247585
Pediatric-Onset Graves Disease
Mood swings, Failure to thrive, Tremor, Hyperactivity, Irritability, Hyperkinetic movements, Micr... ORPHA:525731
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait, Secondary microcephaly, Cessation of head growth ORPHA:98795
Phelan-Mcdermid Syndrome
Impaired pain sensation, Aggressive behavior, Tongue thrusting, Stereotypy, Broad-based gait, Uns... OMIM:606232
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy, Polymicrogyria, Abnormal periventricular white matter morphology, Hypoplasia of the c... ORPHA:500159
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Failure to thrive, Aggressive behavior, Hyperactivity, Spasticity, Impulsivity,... ORPHA:363528
Hyperlysinemia
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Failure to thrive, Tremor, Neck hyp... ORPHA:2203
Early Infantile Epileptic Encephalopathy
Dystonia, Diffuse white matter abnormalities, Choreoathetosis, Self-injurious behavior, Failure t... ORPHA:1934
Bainbridge-Ropers Syndrome
Inability to walk, Hypertonia, Abnormal cerebral white matter morphology, Recurrent hand flapping... ORPHA:352577
Dilated Cardiomyopathy With Ataxia
Dystonia, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Bilateral basal ganglia ... ORPHA:66634
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Hypertonia, Hyperactivity, Spasticity, Abnormal central motor function, S... ORPHA:760
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Large for gestational age,... ORPHA:457485
Bainbridge-Ropers Syndrome
Self-injurious behavior, Failure to thrive, Stereotypy, Hypertonia, Inability to walk, Dilation o... OMIM:615485
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait, Obesity, Microcephaly ORPHA:85293
Cystinosis
Failure to thrive, Abnormal pyramidal sign, Gait disturbance, Stereotypy ORPHA:213
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Agenesis of co... OMIM:309520
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Microcephaly, Stereotypy ORPHA:261144
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cerebral palsy, Torticollis, Isometric tremor, Stereotypy, Irritability, Anxiety, Decreased body ... OMIM:619475
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Microcephaly OMIM:618089
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability, Cerebral atrophy, Microcephaly ORPHA:447980
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Poor motor coordination, Dysmetria, Aggressive behavior, Ataxia, Hyperactivity, Hippocampal atrop... OMIM:614756
2Q37 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Microcephaly, Stereotypy ORPHA:1001
Kleefstra Syndrome 1
Aggressive behavior, Apathy, Stereotypy, Obesity, Microcephaly OMIM:610253
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Small for gestational age, Failure to thrive, Posterior pituitary hypoplasia, S... ORPHA:464311
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Anxiety, Obesity, Head-banging, Stereotypy, Attention deficit hyper... ORPHA:177907
Glass Syndrome
Happy demeanor, Aggressive behavior, Hyperactivity, Broad-based gait, Microcephaly OMIM:612313
Megalocornea-Intellectual Disability Syndrome
Ataxia, Microcephaly, Stereotypy ORPHA:2479
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Ster... ORPHA:217253
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Small for gestational age, Failure to thrive, Primary microcephaly, Microcephal... ORPHA:464306
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Partial agenesis of the corpus callosum, Self-injurious behavior, Failure to thrive, Stereotypy, ... OMIM:619512
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Self-mutilation, Stereotypy, Microcephaly, Obesity,... ORPHA:261494
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Hyperactivity, Ataxia, Incoordination, Spastic paraparesis ORPHA:369891
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy ORPHA:488618
Mend Syndrome
Hyperactivity, Hypertonia OMIM:300960
7Q11.23 Microduplication Syndrome
Dysmetria, Self-injurious behavior, Aggressive behavior, Obesity, Simplified gyral pattern, Stere... ORPHA:96121
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Weight loss, Small for gestational age ORPHA:424
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Self-mutilation, Stereotypy, Attention deficit hyperactivity disorder, D... OMIM:619005
Developmental And Epileptic Encephalopathy 2
Inability to walk, Progressive microcephaly, Myoclonus, Stereotypy OMIM:300672
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
47,Xyy Syndrome
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Increased circulating gonad... ORPHA:8
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Obesity, Hypoplasia of the corpus callosum, Microcephaly ORPHA:254346
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity OMIM:614613
Dpagt1-Cdg
Failure to thrive, Aggressive behavior, Tremor, Stereotypical body rocking, Hypertonia, Ataxia, I... ORPHA:86309
Brooks-Wisniewski-Brown syndrome
Small for gestational age, Poor coordination, Hyperactivity, Spastic diplegia, Cerebral atrophy, ... OMIM:300612
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Small for gestational age, Aggressive behavior, Hyperactivity, Agenesis of corpus ca... OMIM:619148
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Aggressive behavior, Tongue thrusting, Hemiparesis, Broad-based gait, Abnormal... ORPHA:369950
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pineal cyst, Failure to thrive, Stereotypy, Repetitive compulsive behavior, Stereotypical body ro... ORPHA:513456
Dyggve-Melchior-Clausen Disease
Frequent falls, Failure to thrive, Spastic tetraparesis, Hyperactivity, Inability to walk, Diffic... ORPHA:239
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Pain insensitivity, Self-mutilation OMIM:256800
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tongue fasciculations ORPHA:166108
Joubert Syndrome 1
Aggressive behavior, Self-mutilation, Hyperactivity, Oculomotor apraxia, Ataxia, Hemifacial spasm... OMIM:213300
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Cortical tubers, Repetitive compulsive behavior, Pi... ORPHA:805
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Weight loss ORPHA:99819
Argininemia
Frequent falls, Spastic gait, Hyperactivity, Irritability, Progressive spastic quadriplegia, Spas... OMIM:207800
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior OMIM:252920
Koolen-De Vries Syndrome
Small for gestational age, Failure to thrive, Conspicuously happy disposition, Hyperactivity, Imp... OMIM:610443
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Broad-based gait, Pain insensitivi... OMIM:617330
Norrie Disease
Clonus, Cachexia, Abnormality of the diencephalon, Self-injurious behavior, Failure to thrive, St... ORPHA:649
Monosomy 22Q13.3
Hair-pulling, Impaired pain sensation, Hyperactivity, Obesity, Agenesis of corpus callosum ORPHA:48652
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Tics, Impaired pain sensation ORPHA:261211
Seckel Syndrome 1
Hyperactivity, Pachygyria, Microcephaly, Large basal ganglia OMIM:210600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Posterior pituitary hy... ORPHA:268261
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Stereotypy, Hypertonia, Inability to walk, Hypoplasia of the corpus callosum, Micro... ORPHA:508533
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Poor coordination, Stereotypy, Hyperactivity, Spastic diplegia, Cerebr... OMIM:309590
Ogden Syndrome
Hypertonia, Cerebral atrophy, Microcephaly, Stereotypy OMIM:300855
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Stereotypy, Obesity, Hypoplasia of the corpus callosum, Difficulty walking, Microcephaly OMIM:618653
Cardiofaciocutaneous Syndrome 1
Hypoplasia of the frontal lobes, Failure to thrive, Tongue thrusting, Oculomotor apraxia, Hyperto... OMIM:115150
Bone Marrow Failure Syndrome 3
Failure to thrive, Hyperactivity, Microcephaly OMIM:617052
Stankiewicz-Isidor Syndrome
Hyperactivity, Pineal cyst OMIM:617516
Mend Syndrome
Limb hypertonia, Failure to thrive, Aggressive behavior, Hyperactivity, Hypoplasia of the corpus ... ORPHA:401973
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
Hereditary Sensory And Autonomic Neuropathy Type 4
Trophic limb changes, Impaired temperature sensation, Self-mutilation, Hyperesthesia, Painless fr... ORPHA:642
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Microcephaly, Stereotypy OMIM:616682
Trichotillomania
Hair-pulling OMIM:613229
Kinsship Syndrome
Failure to thrive, Myoclonus, Primary microcephaly, Spastic tetraparesis, Stereotypy, Microcephaly OMIM:619297
Mucopolysaccharidosis Type 3
Gait disturbance, Loss of ambulation, Aggressive behavior, Vocal cord paresis, Ataxia, Hypertonia... ORPHA:581
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Microcephaly, Choreoathetosis OMIM:234100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Large for gestational age, Hyperactivity, Attention deficit hyperactivity diso... OMIM:607721
Rubinstein-Taybi Syndrome 1
Abnormal fear/anxiety-related behavior, Poor coordination, Agoraphobia, Failure to thrive, Self-m... OMIM:180849
1P36 Deletion Syndrome
Gait disturbance, Self-injurious behavior, Failure to thrive, Cerebral cortical atrophy, Stereoty... ORPHA:1606
Distal Monosomy 12Q
Failure to thrive in infancy, Impaired pain sensation, Self-mutilation, Pituitary adenoma, Hypera... ORPHA:96149
Mgat2-Cdg
Failure to thrive, Progressive microcephaly, Stereotypical hand wringing ORPHA:79329
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Small for gestational age, Aggressive behavior, Conspicuously happy d... OMIM:613406
Oculocerebrorenal Syndrome Of Lowe
Clonus, Self-injurious behavior, Failure to thrive, Stereotypy, Anxiety, Attention deficit hypera... ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Aggressive behavior, Stereotypy OMIM:301066
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus c... ORPHA:508498
Monosomy 9Q22.3
Hyperactivity, Calcification of falx cerebri, Large for gestational age ORPHA:77301
Mucopolysaccharidosis Type 2
Impulsivity, Hyperactivity, Aggressive behavior, Stereotypy ORPHA:580
Coffin-Siris Syndrome
Aggressive behavior, Simplified gyral pattern, Hyperactivity, Agenesis of corpus callosum, Microc... ORPHA:1465
Maternal Phenylketonuria
Hyperactivity, Hypoplasia of the corpus callosum, Microcephaly ORPHA:2209
Arboleda-Tham Syndrome
Gait imbalance, Lower limb hypertonia, Microcephaly, Stereotypy OMIM:616268
Smith-Lemli-Opitz Syndrome
Hypoplasia of the frontal lobes, Failure to thrive, Aggressive behavior, Self-mutilation, Hyperac... OMIM:270400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:457284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Dystonia, Abnormality of the anterior pituitary, Myoclonus, Exaggerated st... ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypoplasia, Happy deme... ORPHA:261537
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Aggressive behavior, Periventricular cysts, Stereotypy OMIM:309000
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Truncal obesity, Stereotypy, Tics, Cerebral calcifi... OMIM:259050
Wolf-Hirschhorn Syndrome
Periventricular cysts, Small for gestational age, Failure to thrive, Absent septum pellucidum, St... OMIM:194190
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Mowat-Wilson Syndrome
Happy demeanor, Large basal ganglia, Impaired pain sensation, Stereotypy, Ataxia, Focal white mat... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypoplasia, Happy deme... ORPHA:261552
Histidinemia
Hyperactivity ORPHA:2157
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Stereotypy, Spastic tetraparesis, Hypertonia, Hypoplasia of the corpus callosum, Microcephaly OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response, Microcephaly, Stereotypy OMIM:619522
Coffin-Siris Syndrome 12
Failure to thrive, Hippocampal atrophy, Microcephaly, Stereotypy OMIM:619325
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Decreased response to growth hormone stimulation test, Obesity ORPHA:280651
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Falls, Stereotypical body rocking, Periventricular white matter hyperintensiti... OMIM:619503
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Paroxysmal bursts of laughter, Hyperactivity, Obesity, Lower limb hypertonia, Microcephaly OMIM:309580
8Q24.3 Microdeletion Syndrome
Small for gestational age, Tics, Hyperactivity, Low frustration tolerance, Ectopic posterior pitu... ORPHA:508488
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism OMIM:603671
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb, Hyp... ORPHA:1827

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 Zswim6

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 Zswim6.

No publications found that use IMPC mice or data for Zswim6.

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MGI Allele Allele Type Produced
Zswim6em1(IMPC)J Exon Deletion Mice

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